UNC80_HUMAN
ID UNC80_HUMAN Reviewed; 3258 AA.
AC Q8N2C7; B2RN50; B4DQY9; B4DZB3; C4IXS8; C9J1U3; Q96JI4; Q96SS0;
DT 16-AUG-2005, integrated into UniProtKB/Swiss-Prot.
DT 24-MAR-2009, sequence version 2.
DT 03-AUG-2022, entry version 131.
DE RecName: Full=Protein unc-80 homolog;
GN Name=UNC80 {ECO:0000312|HGNC:HGNC:26582}; Synonyms=C2orf21, KIAA1843;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 3; 4; 5 AND 6), AND
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 840-3258 (ISOFORM 4).
RC TISSUE=Teratocarcinoma, and Testis;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15815621; DOI=10.1038/nature03466;
RA Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P.,
RA Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C.,
RA Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L.,
RA Du H., Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A.,
RA Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J.,
RA Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M.,
RA Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T.,
RA Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S.,
RA Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K.,
RA McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C.,
RA Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S.,
RA Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C.,
RA Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M.,
RA Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C.,
RA Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J.,
RA Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E.,
RA Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X.,
RA Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M.,
RA Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C.,
RA Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S.,
RA Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H.,
RA Wilson R.K.;
RT "Generation and annotation of the DNA sequences of human chromosomes 2 and
RT 4.";
RL Nature 434:724-731(2005).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
RC TISSUE=Brain;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 826-3258 (ISOFORM 2).
RC TISSUE=Brain;
RX PubMed=11347906; DOI=10.1093/dnares/8.2.85;
RA Nagase T., Nakayama M., Nakajima D., Kikuno R., Ohara O.;
RT "Prediction of the coding sequences of unidentified human genes. XX. The
RT complete sequences of 100 new cDNA clones from brain which code for large
RT proteins in vitro.";
RL DNA Res. 8:85-95(2001).
RN [6]
RP SEQUENCE REVISION.
RX PubMed=12168954; DOI=10.1093/dnares/9.3.99;
RA Nakajima D., Okazaki N., Yamakawa H., Kikuno R., Ohara O., Nagase T.;
RT "Construction of expression-ready cDNA clones for KIAA genes: manual
RT curation of 330 KIAA cDNA clones.";
RL DNA Res. 9:99-106(2002).
RN [7]
RP INVOLVEMENT IN IHPRF2, AND TISSUE SPECIFICITY.
RX PubMed=26545877; DOI=10.1136/jmedgenet-2015-103352;
RA Perez Y., Kadir R., Volodarsky M., Noyman I., Flusser H., Shorer Z.,
RA Gradstein L., Birnbaum R.Y., Birk O.S.;
RT "UNC80 mutation causes a syndrome of hypotonia, severe intellectual
RT disability, dyskinesia and dysmorphism, similar to that caused by mutations
RT in its interacting cation channel NALCN.";
RL J. Med. Genet. 53:397-402(2016).
RN [8]
RP INVOLVEMENT IN IHPRF2, AND VARIANT IHPRF2 SER-1700.
RX PubMed=26708751; DOI=10.1016/j.ajhg.2015.11.004;
RG Care4Rare Canada Consortium;
RG Baylor-Hopkins Center for Mendelian Genomics;
RA Stray-Pedersen A., Cobben J.M., Prescott T.E., Lee S., Cang C., Aranda K.,
RA Ahmed S., Alders M., Gerstner T., Aslaksen K., Tetreault M., Qin W.,
RA Hartley T., Jhangiani S.N., Muzny D.M., Tarailo-Graovac M.,
RA van Karnebeek C.D., Lupski J.R., Ren D., Yoon G.;
RT "Biallelic mutations in UNC80 cause persistent hypotonia, encephalopathy,
RT growth retardation, and severe intellectual disability.";
RL Am. J. Hum. Genet. 98:202-209(2016).
RN [9]
RP INVOLVEMENT IN IHPRF2, AND VARIANT IHPRF2 MET-189.
RX PubMed=26708753; DOI=10.1016/j.ajhg.2015.11.013;
RA Shamseldin H.E., Faqeih E., Alasmari A., Zaki M.S., Gleeson J.G.,
RA Alkuraya F.S.;
RT "Mutations in UNC80, encoding part of the UNC79-UNC80-NALCN channel
RT complex, cause autosomal-recessive severe infantile encephalopathy.";
RL Am. J. Hum. Genet. 98:210-215(2016).
RN [10]
RP SUBCELLULAR LOCATION.
RX PubMed=32494638; DOI=10.1126/sciadv.aaz3154;
RA Chua H.C., Wulf M., Weidling C., Rasmussen L.P., Pless S.A.;
RT "The NALCN channel complex is voltage sensitive and directly modulated by
RT extracellular calcium.";
RL Sci. Adv. 6:eaaz3154-eaaz3154(2020).
CC -!- FUNCTION: Auxiliary subunit of the NALCN sodium channel complex, a
CC voltage-gated ion channel responsible for the resting Na(+)
CC permeability that controls neuronal excitability (By similarity).
CC Activated by neuropeptides substance P, neurotensin, and extracellular
CC Ca(2+) that regulates neuronal excitability by controlling the sizes of
CC NALCN-dependent sodium-leak current. UNC80 is essential for NALCN
CC sensitivity to extracellular Ca(2+) (By similarity).
CC {ECO:0000250|UniProtKB:Q8BLN6}.
CC -!- SUBUNIT: NALCN complex consists of NALCN and auxiliary subunits, UNC79,
CC UNC80 and NACL1. These auxiliary subunits are essential for the NALCN
CC complex function (By similarity). Interacts (via N-terminus half) with
CC NALCN; this interaction facilitates NALCN surface localization (By
CC similarity). Interacts with UNC79 (By similarity). UNC80 bridges NALCN
CC to UNC79 (By similarity). {ECO:0000250|UniProtKB:B1AL88,
CC ECO:0000250|UniProtKB:Q8BLN6}.
CC -!- SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:32494638};
CC Multi-pass membrane protein {ECO:0000255}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=7;
CC Name=1;
CC IsoId=Q8N2C7-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q8N2C7-2; Sequence=VSP_031528;
CC Name=3;
CC IsoId=Q8N2C7-3; Sequence=VSP_036742, VSP_036743;
CC Name=4;
CC IsoId=Q8N2C7-4; Sequence=VSP_036745, VSP_036746;
CC Name=5;
CC IsoId=Q8N2C7-5; Sequence=VSP_036741, VSP_036744;
CC Name=6;
CC IsoId=Q8N2C7-6; Sequence=VSP_036741, VSP_036745, VSP_036746;
CC Name=7;
CC IsoId=Q8N2C7-7; Sequence=VSP_054289, VSP_036744;
CC -!- TISSUE SPECIFICITY: Moderately expressed in fetal brain, spinal cord,
CC skeletal muscle, thymus, spleen, fetal liver, small intestine, colon,
CC kidney and uterus. Highly expressed in adrenal gland, prostate and
CC testis, as well as in brain and cerebellum.
CC {ECO:0000269|PubMed:26545877}.
CC -!- PTM: Phosphorylated on tyrosine residues.
CC {ECO:0000250|UniProtKB:Q8BLN6}.
CC -!- DISEASE: Hypotonia, infantile, with psychomotor retardation and
CC characteristic facies 2 (IHPRF2) [MIM:616801]: An autosomal recessive,
CC neurodegenerative disease characterized by severe truncal hypotonia
CC since birth or early infancy, progressive peripheral spasticity, and
CC profound psychomotor developmental delay. Some patients may have
CC seizures. {ECO:0000269|PubMed:26545877, ECO:0000269|PubMed:26708751,
CC ECO:0000269|PubMed:26708753}. Note=The disease is caused by variants
CC affecting the gene represented in this entry.
CC -!- SIMILARITY: Belongs to the unc-80 family. {ECO:0000305}.
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DR EMBL; AK027583; BAB55211.1; -; mRNA.
DR EMBL; AK090815; BAC03521.1; -; mRNA.
DR EMBL; AK299022; BAG61101.1; -; mRNA.
DR EMBL; AK302830; BAG64025.1; -; mRNA.
DR EMBL; AC006385; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC006464; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC007038; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471063; EAW70468.1; -; Genomic_DNA.
DR EMBL; BC136690; AAI36691.1; -; mRNA.
DR EMBL; BC136693; AAI36694.1; -; mRNA.
DR EMBL; AB058746; BAB47472.2; -; mRNA.
DR CCDS; CCDS2387.2; -. [Q8N2C7-7]
DR CCDS; CCDS46504.1; -. [Q8N2C7-1]
DR RefSeq; NP_115893.1; NM_032504.1. [Q8N2C7-1]
DR RefSeq; NP_872393.3; NM_182587.3. [Q8N2C7-7]
DR PDB; 7SX3; EM; 3.10 A; E=1-3258.
DR PDB; 7SX4; EM; 3.50 A; E=1-3258.
DR PDBsum; 7SX3; -.
DR PDBsum; 7SX4; -.
DR SMR; Q8N2C7; -.
DR BioGRID; 130032; 9.
DR IntAct; Q8N2C7; 7.
DR MINT; Q8N2C7; -.
DR STRING; 9606.ENSP00000391088; -.
DR TCDB; 1.A.1.11.15; the voltage-gated ion channel (vic) superfamily.
DR GlyGen; Q8N2C7; 1 site, 1 O-linked glycan (1 site).
DR iPTMnet; Q8N2C7; -.
DR PhosphoSitePlus; Q8N2C7; -.
DR BioMuta; UNC80; -.
DR DMDM; 226698393; -.
DR EPD; Q8N2C7; -.
DR MassIVE; Q8N2C7; -.
DR PaxDb; Q8N2C7; -.
DR PeptideAtlas; Q8N2C7; -.
DR PRIDE; Q8N2C7; -.
DR Antibodypedia; 52283; 71 antibodies from 11 providers.
DR DNASU; 285175; -.
DR Ensembl; ENST00000272845.10; ENSP00000272845.5; ENSG00000144406.19. [Q8N2C7-7]
DR Ensembl; ENST00000439458.5; ENSP00000391088.1; ENSG00000144406.19. [Q8N2C7-1]
DR GeneID; 285175; -.
DR KEGG; hsa:285175; -.
DR UCSC; uc010zjc.1; human. [Q8N2C7-1]
DR CTD; 285175; -.
DR DisGeNET; 285175; -.
DR GeneCards; UNC80; -.
DR GeneReviews; UNC80; -.
DR HGNC; HGNC:26582; UNC80.
DR HPA; ENSG00000144406; Group enriched (brain, pituitary gland, retina).
DR MalaCards; UNC80; -.
DR MIM; 612636; gene.
DR MIM; 616801; phenotype.
DR neXtProt; NX_Q8N2C7; -.
DR OpenTargets; ENSG00000144406; -.
DR Orphanet; 371364; Hypotonia-speech impairment-severe cognitive delay syndrome.
DR PharmGKB; PA165697705; -.
DR VEuPathDB; HostDB:ENSG00000144406; -.
DR eggNOG; ENOG502QSTP; Eukaryota.
DR GeneTree; ENSGT00640000091496; -.
DR HOGENOM; CLU_000495_1_0_1; -.
DR InParanoid; Q8N2C7; -.
DR OrthoDB; 82175at2759; -.
DR PhylomeDB; Q8N2C7; -.
DR TreeFam; TF313531; -.
DR PathwayCommons; Q8N2C7; -.
DR Reactome; R-HSA-2672351; Stimuli-sensing channels.
DR SignaLink; Q8N2C7; -.
DR SIGNOR; Q8N2C7; -.
DR BioGRID-ORCS; 285175; 13 hits in 1062 CRISPR screens.
DR ChiTaRS; UNC80; human.
DR GenomeRNAi; 285175; -.
DR Pharos; Q8N2C7; Tbio.
DR PRO; PR:Q8N2C7; -.
DR Proteomes; UP000005640; Chromosome 2.
DR RNAct; Q8N2C7; protein.
DR Bgee; ENSG00000144406; Expressed in cerebellar vermis and 117 other tissues.
DR ExpressionAtlas; Q8N2C7; baseline and differential.
DR Genevisible; Q8N2C7; HS.
DR GO; GO:0030424; C:axon; IBA:GO_Central.
DR GO; GO:0034703; C:cation channel complex; IBA:GO_Central.
DR GO; GO:0005886; C:plasma membrane; IDA:UniProtKB.
DR GO; GO:0005261; F:cation channel activity; IBA:GO_Central.
DR GO; GO:0055080; P:cation homeostasis; IBA:GO_Central.
DR InterPro; IPR045852; UNC80.
DR InterPro; IPR031542; UNC80_N.
DR Pfam; PF19424; UNC80; 1.
DR Pfam; PF15778; UNC80_N; 1.
PE 1: Evidence at protein level;
KW 3D-structure; Alternative splicing; Cell membrane; Disease variant;
KW Membrane; Neurodegeneration; Phosphoprotein; Reference proteome;
KW Transmembrane; Transmembrane helix.
FT CHAIN 1..3258
FT /note="Protein unc-80 homolog"
FT /id="PRO_0000089348"
FT TRANSMEM 2268..2288
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 2398..2418
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 2785..2805
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 2831..2851
FT /note="Helical"
FT /evidence="ECO:0000255"
FT REGION 152..173
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 291..316
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 449..468
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 522..560
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 697..717
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 732..784
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 963..1019
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1034..1076
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1404..1447
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1817..1836
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 2942..2982
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 3051..3213
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 152..167
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 291..311
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 697..712
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 963..978
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1035..1061
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1404..1431
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 2942..2963
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 3071..3110
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 3190..3213
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 257
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q8BLN6"
FT MOD_RES 525
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q8BLN6"
FT MOD_RES 3042
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q8BLN6"
FT VAR_SEQ 1..2554
FT /note="Missing (in isoform 5 and isoform 6)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_036741"
FT VAR_SEQ 314..320
FT /note="ASLVIPP -> STFHFPP (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039,
FT ECO:0000303|PubMed:15489334"
FT /id="VSP_036742"
FT VAR_SEQ 321..3258
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039,
FT ECO:0000303|PubMed:15489334"
FT /id="VSP_036743"
FT VAR_SEQ 822..826
FT /note="Missing (in isoform 7)"
FT /evidence="ECO:0000305"
FT /id="VSP_054289"
FT VAR_SEQ 2604..3258
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:11347906"
FT /id="VSP_031528"
FT VAR_SEQ 3020..3038
FT /note="Missing (in isoform 5 and isoform 7)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_036744"
FT VAR_SEQ 3020
FT /note="S -> R (in isoform 4 and isoform 6)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_036745"
FT VAR_SEQ 3021..3258
FT /note="Missing (in isoform 4 and isoform 6)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_036746"
FT VARIANT 131
FT /note="R -> W (in dbSNP:rs35822936)"
FT /id="VAR_033656"
FT VARIANT 189
FT /note="V -> M (in IHPRF2; dbSNP:rs864321623)"
FT /evidence="ECO:0000269|PubMed:26708753"
FT /id="VAR_075874"
FT VARIANT 1505
FT /note="D -> G (in dbSNP:rs4673492)"
FT /id="VAR_060196"
FT VARIANT 1700
FT /note="P -> S (in IHPRF2; dbSNP:rs869025316)"
FT /evidence="ECO:0000269|PubMed:26708751"
FT /id="VAR_075875"
FT CONFLICT 185
FT /note="V -> A (in Ref. 1; BAC03521)"
FT /evidence="ECO:0000305"
FT CONFLICT 272
FT /note="C -> R (in Ref. 1; BAC03521)"
FT /evidence="ECO:0000305"
FT CONFLICT 826
FT /note="N -> Q (in Ref. 5; BAB47472)"
FT /evidence="ECO:0000305"
FT HELIX 23..33
FT /evidence="ECO:0007829|PDB:7SX3"
FT HELIX 44..54
FT /evidence="ECO:0007829|PDB:7SX3"
FT HELIX 76..95
FT /evidence="ECO:0007829|PDB:7SX3"
FT HELIX 108..120
FT /evidence="ECO:0007829|PDB:7SX3"
FT HELIX 182..192
FT /evidence="ECO:0007829|PDB:7SX3"
FT HELIX 193..195
FT /evidence="ECO:0007829|PDB:7SX3"
FT TURN 196..198
FT /evidence="ECO:0007829|PDB:7SX3"
FT HELIX 215..219
FT /evidence="ECO:0007829|PDB:7SX3"
FT TURN 227..229
FT /evidence="ECO:0007829|PDB:7SX3"
FT HELIX 329..338
FT /evidence="ECO:0007829|PDB:7SX3"
FT HELIX 345..364
FT /evidence="ECO:0007829|PDB:7SX3"
FT HELIX 654..664
FT /evidence="ECO:0007829|PDB:7SX3"
FT HELIX 670..686
FT /evidence="ECO:0007829|PDB:7SX3"
FT HELIX 785..797
FT /evidence="ECO:0007829|PDB:7SX3"
FT HELIX 819..835
FT /evidence="ECO:0007829|PDB:7SX3"
FT HELIX 839..852
FT /evidence="ECO:0007829|PDB:7SX3"
FT HELIX 855..866
FT /evidence="ECO:0007829|PDB:7SX3"
FT HELIX 896..913
FT /evidence="ECO:0007829|PDB:7SX3"
FT HELIX 916..919
FT /evidence="ECO:0007829|PDB:7SX3"
FT HELIX 922..924
FT /evidence="ECO:0007829|PDB:7SX3"
FT HELIX 925..940
FT /evidence="ECO:0007829|PDB:7SX3"
FT HELIX 945..950
FT /evidence="ECO:0007829|PDB:7SX3"
FT HELIX 952..955
FT /evidence="ECO:0007829|PDB:7SX3"
FT HELIX 1177..1191
FT /evidence="ECO:0007829|PDB:7SX3"
FT HELIX 1202..1207
FT /evidence="ECO:0007829|PDB:7SX3"
FT TURN 1208..1210
FT /evidence="ECO:0007829|PDB:7SX3"
FT STRAND 1211..1213
FT /evidence="ECO:0007829|PDB:7SX4"
FT HELIX 1215..1234
FT /evidence="ECO:0007829|PDB:7SX3"
FT HELIX 1268..1292
FT /evidence="ECO:0007829|PDB:7SX3"
FT HELIX 1339..1359
FT /evidence="ECO:0007829|PDB:7SX3"
FT TURN 1453..1455
FT /evidence="ECO:0007829|PDB:7SX3"
FT HELIX 1460..1468
FT /evidence="ECO:0007829|PDB:7SX3"
FT STRAND 1469..1471
FT /evidence="ECO:0007829|PDB:7SX3"
FT HELIX 1485..1502
FT /evidence="ECO:0007829|PDB:7SX3"
FT HELIX 1555..1563
FT /evidence="ECO:0007829|PDB:7SX3"
FT HELIX 1571..1578
FT /evidence="ECO:0007829|PDB:7SX3"
FT TURN 1579..1582
FT /evidence="ECO:0007829|PDB:7SX3"
FT HELIX 1585..1597
FT /evidence="ECO:0007829|PDB:7SX3"
FT HELIX 1598..1600
FT /evidence="ECO:0007829|PDB:7SX3"
FT HELIX 1604..1620
FT /evidence="ECO:0007829|PDB:7SX3"
FT HELIX 1622..1633
FT /evidence="ECO:0007829|PDB:7SX3"
FT HELIX 1638..1653
FT /evidence="ECO:0007829|PDB:7SX3"
FT TURN 1654..1656
FT /evidence="ECO:0007829|PDB:7SX3"
FT HELIX 1659..1661
FT /evidence="ECO:0007829|PDB:7SX3"
FT HELIX 1666..1669
FT /evidence="ECO:0007829|PDB:7SX3"
FT HELIX 1737..1749
FT /evidence="ECO:0007829|PDB:7SX3"
FT HELIX 1753..1755
FT /evidence="ECO:0007829|PDB:7SX3"
FT HELIX 1758..1762
FT /evidence="ECO:0007829|PDB:7SX3"
FT HELIX 1845..1848
FT /evidence="ECO:0007829|PDB:7SX3"
FT HELIX 1851..1857
FT /evidence="ECO:0007829|PDB:7SX3"
FT HELIX 1870..1884
FT /evidence="ECO:0007829|PDB:7SX3"
FT HELIX 1886..1899
FT /evidence="ECO:0007829|PDB:7SX3"
FT HELIX 1903..1917
FT /evidence="ECO:0007829|PDB:7SX3"
FT HELIX 1922..1941
FT /evidence="ECO:0007829|PDB:7SX3"
FT HELIX 1947..1962
FT /evidence="ECO:0007829|PDB:7SX3"
FT HELIX 1970..1980
FT /evidence="ECO:0007829|PDB:7SX3"
FT TURN 1984..1986
FT /evidence="ECO:0007829|PDB:7SX3"
FT STRAND 1996..2001
FT /evidence="ECO:0007829|PDB:7SX3"
FT STRAND 2003..2006
FT /evidence="ECO:0007829|PDB:7SX3"
FT STRAND 2010..2013
FT /evidence="ECO:0007829|PDB:7SX3"
FT HELIX 2020..2031
FT /evidence="ECO:0007829|PDB:7SX3"
FT HELIX 2035..2037
FT /evidence="ECO:0007829|PDB:7SX3"
FT STRAND 2040..2045
FT /evidence="ECO:0007829|PDB:7SX3"
FT TURN 2046..2049
FT /evidence="ECO:0007829|PDB:7SX3"
FT HELIX 2058..2061
FT /evidence="ECO:0007829|PDB:7SX3"
FT STRAND 2071..2076
FT /evidence="ECO:0007829|PDB:7SX3"
FT HELIX 2079..2109
FT /evidence="ECO:0007829|PDB:7SX3"
FT HELIX 2113..2115
FT /evidence="ECO:0007829|PDB:7SX3"
FT HELIX 2116..2129
FT /evidence="ECO:0007829|PDB:7SX3"
FT HELIX 2133..2138
FT /evidence="ECO:0007829|PDB:7SX3"
FT HELIX 2142..2145
FT /evidence="ECO:0007829|PDB:7SX3"
FT TURN 2148..2150
FT /evidence="ECO:0007829|PDB:7SX3"
FT HELIX 2151..2174
FT /evidence="ECO:0007829|PDB:7SX3"
FT HELIX 2186..2199
FT /evidence="ECO:0007829|PDB:7SX3"
FT HELIX 2204..2220
FT /evidence="ECO:0007829|PDB:7SX3"
FT HELIX 2222..2225
FT /evidence="ECO:0007829|PDB:7SX3"
FT TURN 2231..2233
FT /evidence="ECO:0007829|PDB:7SX3"
FT HELIX 2234..2243
FT /evidence="ECO:0007829|PDB:7SX3"
FT TURN 2244..2246
FT /evidence="ECO:0007829|PDB:7SX3"
FT HELIX 2248..2277
FT /evidence="ECO:0007829|PDB:7SX3"
FT HELIX 2278..2280
FT /evidence="ECO:0007829|PDB:7SX3"
FT HELIX 2297..2308
FT /evidence="ECO:0007829|PDB:7SX3"
FT HELIX 2317..2320
FT /evidence="ECO:0007829|PDB:7SX3"
FT STRAND 2330..2332
FT /evidence="ECO:0007829|PDB:7SX4"
FT HELIX 2343..2356
FT /evidence="ECO:0007829|PDB:7SX3"
FT STRAND 2358..2360
FT /evidence="ECO:0007829|PDB:7SX3"
FT HELIX 2361..2387
FT /evidence="ECO:0007829|PDB:7SX3"
FT HELIX 2391..2414
FT /evidence="ECO:0007829|PDB:7SX3"
FT HELIX 2415..2419
FT /evidence="ECO:0007829|PDB:7SX3"
FT HELIX 2480..2516
FT /evidence="ECO:0007829|PDB:7SX3"
FT HELIX 2531..2547
FT /evidence="ECO:0007829|PDB:7SX3"
FT TURN 2548..2550
FT /evidence="ECO:0007829|PDB:7SX3"
FT HELIX 2552..2555
FT /evidence="ECO:0007829|PDB:7SX3"
FT HELIX 2558..2566
FT /evidence="ECO:0007829|PDB:7SX3"
FT TURN 2567..2570
FT /evidence="ECO:0007829|PDB:7SX3"
FT TURN 2576..2578
FT /evidence="ECO:0007829|PDB:7SX3"
FT HELIX 2579..2598
FT /evidence="ECO:0007829|PDB:7SX3"
FT HELIX 2600..2605
FT /evidence="ECO:0007829|PDB:7SX3"
FT HELIX 2609..2624
FT /evidence="ECO:0007829|PDB:7SX3"
FT HELIX 2626..2630
FT /evidence="ECO:0007829|PDB:7SX3"
FT HELIX 2633..2645
FT /evidence="ECO:0007829|PDB:7SX3"
FT HELIX 2671..2687
FT /evidence="ECO:0007829|PDB:7SX3"
FT TURN 2688..2691
FT /evidence="ECO:0007829|PDB:7SX3"
FT HELIX 2695..2698
FT /evidence="ECO:0007829|PDB:7SX3"
FT HELIX 2699..2701
FT /evidence="ECO:0007829|PDB:7SX3"
FT HELIX 2707..2713
FT /evidence="ECO:0007829|PDB:7SX3"
FT HELIX 2716..2721
FT /evidence="ECO:0007829|PDB:7SX3"
FT HELIX 2734..2748
FT /evidence="ECO:0007829|PDB:7SX3"
FT HELIX 2788..2804
FT /evidence="ECO:0007829|PDB:7SX3"
FT TURN 2805..2808
FT /evidence="ECO:0007829|PDB:7SX3"
FT HELIX 2809..2812
FT /evidence="ECO:0007829|PDB:7SX3"
FT HELIX 2813..2819
FT /evidence="ECO:0007829|PDB:7SX3"
FT HELIX 2821..2825
FT /evidence="ECO:0007829|PDB:7SX3"
FT STRAND 2829..2831
FT /evidence="ECO:0007829|PDB:7SX3"
FT HELIX 2832..2843
FT /evidence="ECO:0007829|PDB:7SX3"
FT HELIX 2848..2854
FT /evidence="ECO:0007829|PDB:7SX3"
FT HELIX 2857..2860
FT /evidence="ECO:0007829|PDB:7SX3"
FT HELIX 2868..2870
FT /evidence="ECO:0007829|PDB:7SX3"
FT HELIX 2873..2879
FT /evidence="ECO:0007829|PDB:7SX3"
FT HELIX 2891..2908
FT /evidence="ECO:0007829|PDB:7SX3"
SQ SEQUENCE 3258 AA; 363390 MW; 5C1A4EA11D2B85F0 CRC64;
MVKRKSSEGQ EQDGGRGIPL PIQTFLWRQT SAFLRPKLGK QYEASCVSFE RVLVENKLHG
LSPALSEAIQ SISRWELVQA ALPHVLHCTA TLLSNRNKLG HQDKLGVAET KLLHTLHWML
LEAPQDCNNE RFGGTDRGSS WGGSSSAFIH QVENQGSPGQ PCQSSSNDEE ENNRRKIFQN
SMATVELFVF LFAPLVHRIK ESDLTFRLAS GLVIWQPMWE HRQPGVSGFT ALVKPIRNII
TAKRSSPINS QSRTCESPNQ DARHLEGLQV VCETFQSDSI SPKATISGCH RGNSFDGSLS
SQTSQERGPS HSRASLVIPP CQRSRYATYF DVAVLRCLLQ PHWSEEGTQW SLMYYLQRLR
HMLEEKPEKP PEPDIPLLPR PRSSSMVAAA PSLVNTHKTQ DLTMKCNEEE KSLSSEAFSK
VSLTNLRRSA VPDLSSDLGM NIFKKFKSRK EDRERKGSIP FHHTGKRRPR RMGVPFLLHE
DHLDVSPTRS TFSFGSFSGL GEDRRGIEKG GWQTTILGKL TRRGSSDAAT EMESLSARHS
HSHHTLVSDL PDPSNSHGEN TVKEVRSQIS TITVATFNTT LASFNVGYAD FFNEHMRKLC
NQVPIPEMPH EPLACANLPR SLTDSCINYS YLEDTEHIDG TNNFVHKNGM LDLSVVLKAV
YLVLNHDISS RICDVALNIV ECLLQLGVVP CVEKNRKKSE NKENETLEKR PSEGAFQFKG
VSGSSTCGFG GPAVSGAGDG GGEEGGGGDG GGGGGDGGGG GGGGGGPYEK NDKNQEKDES
TPVSNHRLAL TMLIKIVKSL GCAYGCGEGH RGLSGDRLRH QVFRENAQNC LTKLYKLDKM
QFRQTMRDYV NKDSLNNVVD FLHALLGFCM EPVTDNKAGF GNNFTTVDNK STAQNVEGII
VSAMFKSLIT RCASTTHELH SPENLGLYCD IRQLVQFIKE AHGNVFRRVA LSALLDSAEK
LAPGKKVEEN EQESKPAGSK RSEAGSIVDK GQVSSAPEEC RSFMSGRPSQ TPEHDEQMQG
ANLGRKDFWR KMFKSQSAAS DTSSQSEQDT SECTTAHSGT TSDRRARSRS RRISLRKKLK
LPIGKRNWLK RSSLSGLADG VEDLLDISSV DRLSFIRQSS KVKFTSAVKL SEGGPGSGME
NGRDEEENFF KRLGCHSFDD HLSPNQDGGK SKNVVNLGAI RQGMKRFQFL LNCCEPGTIP
DASILAAALD LEAPVVARAA LFLECARFVH RCNRGNWPEW MKGHHVNITK KGLSRGRSPI
VGNKRNQKLQ WNAAKLFYQW GDAIGVRLNE LCHGESESPA NLLGLIYDEE TKRRLRKEDE
EEDFLDDSTV NPSKCGCPFA LKMAACQLLL EITTFLRETF SCLPRPRTEP LVDLESCRLR
LDPELDRHRY ERKISFAGVL DENEDSKDSL HSSSHTLKSD AGVEEKKEGS PWSASEPSIE
PEGMSNAGAE ENYHRNMSWL HVMILLCNQQ SFICTHVDYC HPHCYLHHSR SCARLVRAIK
LLYGDSVDSL RESSNISSVA LRGKKQKECS DKSCLRTPSL KKRVSDANLE GKKDSGMLKY
IRLQVMSLSP APLSLLIKAA PILTEEMYGD IQPAAWELLL SMDEHMAGAA AAMFLLCAVK
VPEAVSDMLM SEFHHPETVQ RLNAVLKFHT LWRFRYQVWP RMEEGAQQIF KIPPPSINFT
LPSPVLGMPS VPMFDPPWVP QCSGSVQDPI NEDQSKSFSA RAVSRSHQRA EHILKNLQQE
EEKKRLGREA SLITAIPITQ EACYEPTCTP NSEPEEEVEE VTNLASRRLS VSPSCTSSTS
HRNYSFRRGS VWSVRSAVSA EDEEHTTEHT PNHHVPQPPQ AVFPACICAA VLPIVHLMED
GEVREDGVAV SAVAQQVLWN CLIEDPSTVL RHFLEKLTIS NRQDELMYML RKLLLNIGDF
PAQTSHILFN YLVGLIMYFV RTPCEWGMDA ISATLTFLWE VVGYVEGLFF KDLKQTMKKE
QCEVKLLVTA SMPGTKTLVV HGQNECDIPT QLPVHEDTQF EALLKECLEF FNIPESQSTH
YFLMDKRWNL IHYNKTYVRD IYPFRRSVSP QLNLVHMHPE KGQELIQKQV FTRKLEEVGR
VLFLISLTQK IPTAHKQSHV SMLQEDLLRL PSFPRSAIDA EFSLFSDPQA GKELFGLDTL
QKSLWIQLLE EMFLGMPSEF PWGDEIMLFL NVFNGALILH PEDSALLRQY AATVINTAVH
FNHLFSLSGY QWILPTMLQV YSDYESNPQL RQAIEFACHQ FYILHRKPFV LQLFASVAPL
LEFPDAANNG PSKGVSAQCL FDLLQSLEGE TTDILDILEL VKAEKPLKSL DFCYGNEDLT
FSISEAIKLC VTVVAYAPES FRSLQMLMVL EALVPCYLQK LKRQTSQVET VPAAREEIAA
TAALATSLQA LLYSVEVLTR PMTAPQMSRC DQGHKGTTTA NHTMSSGVNT RYQEQGAKLH
FIRENLHLLE EGQGIPREEL DERIAREEFR RPRESLLNIC TEFYKHCGPR LKILQNLAGE
PRVIALELLD VKSHMRLAEI AHSLLKLAPY DTQTMESRGL RRYIMEMLPI TDWTAEAVRP
ALILILKRLD RMFNKIHKMP TLRRQVEWEP ASNLIEGVCL TLQRQPIISF LPHLRSLINV
CVNLVMGVVG PSSVADGLPL LHLSPYLSPP LPFSTAVVRL VALQIQALKE DFPLSHVISP
FTNQERREGM LLNLLIPFVL TVGSGSKDSP WLEQPEVQLL LQTVINVLLP PRIISTSRSK
NFMLESSPAH CSTPGDAGKD LRREGLAEST SQAAYLALKV ILVCFERQLG SQWYWLSLQV
KEMALRKVGG LALWDFLDFI VRTRIPIFVL LRPFIQCKLL AQPAENHEEL SARQHIADQL
ERRFIPRPLC KSSLIAEFNS ELKILKEAVH SGSAYQGKTS ISTVGTSTSA YRLSLATMSR
SNTGTGTVWE QDSEPSQQAS QDTLSRTDEE DEENDSISMP SVVSEQEAYL LSAIGRRRFS
SHVSSMSVPQ AEVGMLPSQS EPNVLDDSQG LAAEGSLSRV ASIQSEPGQQ NLLVQQPLGR
KRGLRQLRRP LLSRQKTQTE PRNRQGARLS TTRRSIQPKT KPSADQKRSV TFIEAQPEPA
AAPTDALPAT GQLQGCSPAP SRKPEAMDEP VLTSSPAIVV ADLHSVSPKQ SENFPTEEGE
KEEDTEAQGA TAHSPLSAQL SDPDDFTGLE TSSLLQHGDT VLHISEENGM ENPLLSSQFT
FTPTELGKTD AVLDESHV
