DNAI1_HUMAN
ID DNAI1_HUMAN Reviewed; 699 AA.
AC Q9UI46; B7Z7U1; Q5T8G7; Q8NHQ7; Q9UEZ8;
DT 11-JAN-2001, integrated into UniProtKB/Swiss-Prot.
DT 01-MAY-2000, sequence version 1.
DT 03-AUG-2022, entry version 175.
DE RecName: Full=Dynein axonemal intermediate chain 1;
DE AltName: Full=Axonemal dynein intermediate chain 1;
GN Name=DNAI1;
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 [GENOMIC DNA / MRNA] (ISOFORM 1).
RC TISSUE=Testis, and Trachea;
RX PubMed=10577904; DOI=10.1086/302683;
RA Pennarun G., Escudier E., Chapelin C., Bridoux A.-M., Cacheux V., Roger G.,
RA Clement A., Goossens M., Amselem S., Duriez B.;
RT "Loss-of-function mutations in a human gene related to Chlamydomonas
RT reinhardtii dynein IC78 result in primary ciliary dyskinesia.";
RL Am. J. Hum. Genet. 65:1508-1519(1999).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=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 [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15164053; DOI=10.1038/nature02465;
RA Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L.,
RA Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R.,
RA Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S.,
RA Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K.,
RA Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y.,
RA Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C.,
RA Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E.,
RA Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M.,
RA Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J.,
RA Frankish A., Frankland J.A., French L., Fricker D.G., Garner P.,
RA Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S.,
RA Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E.,
RA Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D.,
RA Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E.,
RA Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K.,
RA Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S.,
RA Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J.,
RA Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E.,
RA McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V.,
RA Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S.,
RA Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K.,
RA Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J.,
RA Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M.,
RA West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L.,
RA Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M.,
RA Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J.,
RA Dunham I.;
RT "DNA sequence and analysis of human chromosome 9.";
RL Nature 429:369-374(2004).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND VARIANT SER-8.
RC TISSUE=Testis;
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 PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-131 AND SER-134, AND
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Sperm;
RX PubMed=12509440; DOI=10.1074/jbc.m202325200;
RA Ficarro S., Chertihin O., Westbrook V.A., White F., Jayes F., Kalab P.,
RA Marto J.A., Shabanowitz J., Herr J.C., Hunt D.F., Visconti P.E.;
RT "Phosphoproteome analysis of capacitated human sperm. Evidence of tyrosine
RT phosphorylation of a kinase-anchoring protein 3 and valosin-containing
RT protein/p97 during capacitation.";
RL J. Biol. Chem. 278:11579-11589(2003).
RN [6]
RP INTERACTION WITH BICD2.
RX PubMed=23664119; DOI=10.1016/j.ajhg.2013.04.013;
RA Peeters K., Litvinenko I., Asselbergh B., Almeida-Souza L., Chamova T.,
RA Geuens T., Ydens E., Zimon M., Irobi J., De Vriendt E., De Winter V.,
RA Ooms T., Timmerman V., Tournev I., Jordanova A.;
RT "Molecular defects in the motor adaptor BICD2 cause proximal spinal
RT muscular atrophy with autosomal-dominant inheritance.";
RL Am. J. Hum. Genet. 92:955-964(2013).
RN [7]
RP SUBCELLULAR LOCATION.
RX PubMed=27120127; DOI=10.1002/humu.23005;
RA Jeanson L., Thomas L., Copin B., Coste A., Sermet-Gaudelus I.,
RA Dastot-Le Moal F., Duquesnoy P., Montantin G., Collot N., Tissier S.,
RA Papon J.F., Clement A., Louis B., Escudier E., Amselem S., Legendre M.;
RT "Mutations in GAS8, a gene encoding a nexin-dynein regulatory complex
RT subunit, cause primary ciliary dyskinesia with axonemal disorganization.";
RL Hum. Mutat. 37:776-785(2016).
RN [8]
RP SUBCELLULAR LOCATION, AND TISSUE SPECIFICITY.
RX PubMed=33263282; DOI=10.7554/elife.58662;
RA Lee C., Cox R.M., Papoulas O., Horani A., Drew K., Devitt C.C., Brody S.L.,
RA Marcotte E.M., Wallingford J.B.;
RT "Functional partitioning of a liquid-like organelle during assembly of
RT axonemal dyneins.";
RL Elife 9:0-0(2020).
RN [9]
RP INTERACTION WITH CFAP45 AND CFAP52.
RX PubMed=33139725; DOI=10.1038/s41467-020-19113-0;
RA Dougherty G.W., Mizuno K., Noethe-Menchen T., Ikawa Y., Boldt K.,
RA Ta-Shma A., Aprea I., Minegishi K., Pang Y.P., Pennekamp P., Loges N.T.,
RA Raidt J., Hjeij R., Wallmeier J., Mussaffi H., Perles Z., Elpeleg O.,
RA Rabert F., Shiratori H., Letteboer S.J., Horn N., Young S., Struenker T.,
RA Stumme F., Werner C., Olbrich H., Takaoka K., Ide T., Twan W.K.,
RA Biebach L., Grosse-Onnebrink J., Klinkenbusch J.A., Praveen K.,
RA Bracht D.C., Hoeben I.M., Junger K., Guetzlaff J., Cindric S., Aviram M.,
RA Kaiser T., Memari Y., Dzeja P.P., Dworniczak B., Ueffing M., Roepman R.,
RA Bartscherer K., Katsanis N., Davis E.E., Amirav I., Hamada H., Omran H.;
RT "CFAP45 deficiency causes situs abnormalities and asthenospermia by
RT disrupting an axonemal adenine nucleotide homeostasis module.";
RL Nat. Commun. 11:5520-5520(2020).
RN [10]
RP VARIANT SER-8, AND VARIANT KTGS SER-515.
RX PubMed=11231901; DOI=10.1086/319511;
RA Guichard C., Harricane M.-C., Lafitte J.-J., Godard P., Zaegel M., Tack V.,
RA Lalau G., Bouvagnet P.;
RT "Axonemal dynein intermediate-chain gene (DNAI1) mutations result in situs
RT inversus and primary ciliary dyskinesia (Kartagener syndrome).";
RL Am. J. Hum. Genet. 68:1030-1035(2001).
RN [11]
RP INVOLVEMENT IN CILD1.
RX PubMed=25186273; DOI=10.1183/09031936.00052014;
RA Raidt J., Wallmeier J., Hjeij R., Onnebrink J.G., Pennekamp P., Loges N.T.,
RA Olbrich H., Haeffner K., Dougherty G.W., Omran H., Werner C.;
RT "Ciliary beat pattern and frequency in genetic variants of primary ciliary
RT dyskinesia.";
RL Eur. Respir. J. 44:1579-1588(2014).
CC -!- FUNCTION: Part of the dynein complex of respiratory cilia.
CC -!- SUBUNIT: Consists of at least two heavy chains and a number of
CC intermediate and light chains. Interacts with BICD2 (PubMed:23664119).
CC Interacts with CFAP45 and CFAP52 (PubMed:33139725).
CC {ECO:0000269|PubMed:23664119, ECO:0000269|PubMed:33139725}.
CC -!- SUBCELLULAR LOCATION: Dynein axonemal particle
CC {ECO:0000269|PubMed:33263282}. Cytoplasm, cytoskeleton, cilium axoneme
CC {ECO:0000269|PubMed:27120127}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q9UI46-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q9UI46-2; Sequence=VSP_056963, VSP_056964;
CC -!- TISSUE SPECIFICITY: Expressed in respiratory ciliated cells (at protein
CC level). {ECO:0000269|PubMed:33263282}.
CC -!- DISEASE: Ciliary dyskinesia, primary, 1 (CILD1) [MIM:244400]: A
CC disorder characterized by abnormalities of motile cilia. Respiratory
CC infections leading to chronic inflammation and bronchiectasis are
CC recurrent, due to defects in the respiratory cilia; reduced fertility
CC is often observed in male patients due to abnormalities of sperm tails.
CC Half of the patients exhibit randomization of left-right body asymmetry
CC and situs inversus, due to dysfunction of monocilia at the embryonic
CC node. Primary ciliary dyskinesia associated with situs inversus is
CC referred to as Kartagener syndrome. {ECO:0000269|PubMed:25186273}.
CC Note=The disease is caused by variants affecting the gene represented
CC in this entry.
CC -!- DISEASE: Kartagener syndrome (KTGS) [MIM:244400]: An autosomal
CC recessive disorder characterized by the association of primary ciliary
CC dyskinesia with situs inversus. Clinical features include recurrent
CC respiratory infections, bronchiectasis, infertility, and lateral
CC transposition of the viscera of the thorax and abdomen. The situs
CC inversus is most often total, although it can be partial in some cases
CC (isolated dextrocardia or isolated transposition of abdominal viscera).
CC {ECO:0000269|PubMed:11231901}. Note=The disease is caused by variants
CC affecting the gene represented in this entry.
CC -!- SIMILARITY: Belongs to the dynein intermediate chain family.
CC {ECO:0000305}.
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DR EMBL; AF091619; AAF18570.1; -; mRNA.
DR EMBL; AF190496; AAF19816.1; -; Genomic_DNA.
DR EMBL; AF190477; AAF19816.1; JOINED; Genomic_DNA.
DR EMBL; AF190478; AAF19816.1; JOINED; Genomic_DNA.
DR EMBL; AF190479; AAF19816.1; JOINED; Genomic_DNA.
DR EMBL; AF190480; AAF19816.1; JOINED; Genomic_DNA.
DR EMBL; AF190481; AAF19816.1; JOINED; Genomic_DNA.
DR EMBL; AF190482; AAF19816.1; JOINED; Genomic_DNA.
DR EMBL; AF190483; AAF19816.1; JOINED; Genomic_DNA.
DR EMBL; AF190484; AAF19816.1; JOINED; Genomic_DNA.
DR EMBL; AF190485; AAF19816.1; JOINED; Genomic_DNA.
DR EMBL; AF190486; AAF19816.1; JOINED; Genomic_DNA.
DR EMBL; AF190487; AAF19816.1; JOINED; Genomic_DNA.
DR EMBL; AF190488; AAF19816.1; JOINED; Genomic_DNA.
DR EMBL; AF190489; AAF19816.1; JOINED; Genomic_DNA.
DR EMBL; AF190490; AAF19816.1; JOINED; Genomic_DNA.
DR EMBL; AF190491; AAF19816.1; JOINED; Genomic_DNA.
DR EMBL; AF190492; AAF19816.1; JOINED; Genomic_DNA.
DR EMBL; AF190493; AAF19816.1; JOINED; Genomic_DNA.
DR EMBL; AF190494; AAF19816.1; JOINED; Genomic_DNA.
DR EMBL; AF190495; AAF19816.1; JOINED; Genomic_DNA.
DR EMBL; AK302499; BAH13727.1; -; mRNA.
DR EMBL; AL160270; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC030583; AAH30583.1; -; mRNA.
DR CCDS; CCDS6557.1; -. [Q9UI46-1]
DR RefSeq; NP_001268357.1; NM_001281428.1.
DR RefSeq; NP_036276.1; NM_012144.3. [Q9UI46-1]
DR AlphaFoldDB; Q9UI46; -.
DR SMR; Q9UI46; -.
DR BioGRID; 117957; 9.
DR STRING; 9606.ENSP00000480538; -.
DR iPTMnet; Q9UI46; -.
DR PhosphoSitePlus; Q9UI46; -.
DR BioMuta; DNAI1; -.
DR DMDM; 12643888; -.
DR MassIVE; Q9UI46; -.
DR PaxDb; Q9UI46; -.
DR PeptideAtlas; Q9UI46; -.
DR PRIDE; Q9UI46; -.
DR ProteomicsDB; 6899; -.
DR ProteomicsDB; 84474; -. [Q9UI46-1]
DR Antibodypedia; 11255; 228 antibodies from 34 providers.
DR DNASU; 27019; -.
DR Ensembl; ENST00000242317.9; ENSP00000242317.4; ENSG00000122735.16. [Q9UI46-1]
DR GeneID; 27019; -.
DR KEGG; hsa:27019; -.
DR MANE-Select; ENST00000242317.9; ENSP00000242317.4; NM_012144.4; NP_036276.1.
DR UCSC; uc003zum.5; human. [Q9UI46-1]
DR CTD; 27019; -.
DR DisGeNET; 27019; -.
DR GeneCards; DNAI1; -.
DR GeneReviews; DNAI1; -.
DR HGNC; HGNC:2954; DNAI1.
DR HPA; ENSG00000122735; Tissue enhanced (choroid plexus, fallopian tube, testis).
DR MalaCards; DNAI1; -.
DR MIM; 244400; phenotype.
DR MIM; 604366; gene.
DR neXtProt; NX_Q9UI46; -.
DR OpenTargets; ENSG00000122735; -.
DR Orphanet; 244; Primary ciliary dyskinesia.
DR PharmGKB; PA27407; -.
DR VEuPathDB; HostDB:ENSG00000122735; -.
DR eggNOG; KOG1587; Eukaryota.
DR GeneTree; ENSGT00940000156436; -.
DR HOGENOM; CLU_015820_2_0_1; -.
DR InParanoid; Q9UI46; -.
DR OMA; FNYCERA; -.
DR OrthoDB; 704698at2759; -.
DR PhylomeDB; Q9UI46; -.
DR TreeFam; TF300553; -.
DR PathwayCommons; Q9UI46; -.
DR SignaLink; Q9UI46; -.
DR SIGNOR; Q9UI46; -.
DR BioGRID-ORCS; 27019; 10 hits in 1067 CRISPR screens.
DR ChiTaRS; DNAI1; human.
DR GeneWiki; DNAI1; -.
DR GenomeRNAi; 27019; -.
DR Pharos; Q9UI46; Tbio.
DR PRO; PR:Q9UI46; -.
DR Proteomes; UP000005640; Chromosome 9.
DR RNAct; Q9UI46; protein.
DR Bgee; ENSG00000122735; Expressed in right uterine tube and 112 other tissues.
DR ExpressionAtlas; Q9UI46; baseline and differential.
DR Genevisible; Q9UI46; HS.
DR GO; GO:0097729; C:9+2 motile cilium; IEA:Ensembl.
DR GO; GO:0005813; C:centrosome; IEA:Ensembl.
DR GO; GO:0005929; C:cilium; IDA:UniProtKB.
DR GO; GO:0005856; C:cytoskeleton; TAS:ProtInc.
DR GO; GO:0120293; C:dynein axonemal particle; IEA:UniProtKB-SubCell.
DR GO; GO:0005576; C:extracellular region; IEA:GOC.
DR GO; GO:0005874; C:microtubule; IEA:UniProtKB-KW.
DR GO; GO:0036157; C:outer dynein arm; IMP:SYSCILIA_CCNET.
DR GO; GO:0003774; F:cytoskeletal motor activity; TAS:ProtInc.
DR GO; GO:0045504; F:dynein heavy chain binding; IBA:GO_Central.
DR GO; GO:0045503; F:dynein light chain binding; IBA:GO_Central.
DR GO; GO:0003341; P:cilium movement; IMP:SYSCILIA_CCNET.
DR GO; GO:0007368; P:determination of left/right symmetry; IMP:SYSCILIA_CCNET.
DR GO; GO:0003351; P:epithelial cilium movement involved in extracellular fluid movement; IEA:Ensembl.
DR GO; GO:0030317; P:flagellated sperm motility; IMP:SYSCILIA_CCNET.
DR GO; GO:0007507; P:heart development; IEA:Ensembl.
DR GO; GO:0008286; P:insulin receptor signaling pathway; IEA:Ensembl.
DR GO; GO:0007018; P:microtubule-based movement; IBA:GO_Central.
DR GO; GO:0036158; P:outer dynein arm assembly; IMP:SYSCILIA_CCNET.
DR Gene3D; 2.130.10.10; -; 2.
DR InterPro; IPR015943; WD40/YVTN_repeat-like_dom_sf.
DR InterPro; IPR001680; WD40_repeat.
DR InterPro; IPR036322; WD40_repeat_dom_sf.
DR Pfam; PF00400; WD40; 1.
DR SMART; SM00320; WD40; 4.
DR SUPFAM; SSF50978; SSF50978; 1.
DR PROSITE; PS50082; WD_REPEATS_2; 1.
DR PROSITE; PS50294; WD_REPEATS_REGION; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Cell projection; Ciliopathy; Cilium;
KW Cilium biogenesis/degradation; Cytoplasm; Cytoskeleton; Disease variant;
KW Dynein; Kartagener syndrome; Microtubule; Motor protein; Phosphoprotein;
KW Primary ciliary dyskinesia; Reference proteome; Repeat; WD repeat.
FT CHAIN 1..699
FT /note="Dynein axonemal intermediate chain 1"
FT /id="PRO_0000114658"
FT REPEAT 320..370
FT /note="WD 1"
FT REPEAT 375..413
FT /note="WD 2"
FT REPEAT 422..465
FT /note="WD 3"
FT REPEAT 474..526
FT /note="WD 4"
FT REPEAT 531..570
FT /note="WD 5"
FT REPEAT 574..612
FT /note="WD 6"
FT REPEAT 618..658
FT /note="WD 7"
FT REGION 1..54
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 140..170
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 131
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:12509440"
FT MOD_RES 134
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:12509440"
FT VAR_SEQ 88..168
FT /note="EGTYKPIGFVNQLAVHYTQVGNLIPKDSDEGRRQHYRDELVAGSQESVKVIS
FT ETGNLEEDEEPKELETEPGSQTDVPAAGA -> KQWSLGFIPKLKRKIPVNYWGQDEGE
FT ISNETVRVIYSLGIFIMKIVTILLNINIEHLLCVRHCVNRLFLLFLILIIIMQIR (in
FT isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_056963"
FT VAR_SEQ 169..699
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_056964"
FT VARIANT 8
FT /note="A -> S (in dbSNP:rs11547035)"
FT /evidence="ECO:0000269|PubMed:11231901,
FT ECO:0000269|PubMed:15489334"
FT /id="VAR_016774"
FT VARIANT 60
FT /note="A -> V (in dbSNP:rs16931549)"
FT /id="VAR_033876"
FT VARIANT 326
FT /note="Q -> H (in dbSNP:rs16931555)"
FT /id="VAR_033877"
FT VARIANT 335
FT /note="V -> I (in dbSNP:rs11793196)"
FT /id="VAR_033878"
FT VARIANT 487
FT /note="V -> G (in dbSNP:rs11999454)"
FT /id="VAR_033879"
FT VARIANT 515
FT /note="G -> S (in KTGS; dbSNP:rs79833450)"
FT /evidence="ECO:0000269|PubMed:11231901"
FT /id="VAR_016775"
FT CONFLICT 202
FT /note="Y -> C (in Ref. 4; AAH30583)"
FT /evidence="ECO:0000305"
FT CONFLICT 495
FT /note="P -> Q (in Ref. 4; AAH30583)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 699 AA; 79283 MW; F7E2CF9D09A1F8BD CRC64;
MIPASAKAPH KQPHKQSISI GRGTRKRDED SGTEVGEGTD EWAQSKATVR PPDQLELTDA
ELKEEFTRIL TANNPHAPQN IVRYSFKEGT YKPIGFVNQL AVHYTQVGNL IPKDSDEGRR
QHYRDELVAG SQESVKVISE TGNLEEDEEP KELETEPGSQ TDVPAAGAAE KVTEEELMTP
KQPKERKLTN QFNFSERASQ TYNNPVRDRE CQTEPPPRTN FSATANQWEI YDAYVEELEK
QEKTKEKEKA KTPVAKKSGK MAMRKLTSME SQTDDLIKLS QAAKIMERMV NQNTYDDIAQ
DFKYYDDAAD EYRDQVGTLL PLWKFQNDKA KRLSVTALCW NPKYRDLFAV GYGSYDFMKQ
SRGMLLLYSL KNPSFPEYMF SSNSGVMCLD IHVDHPYLVA VGHYDGNVAI YNLKKPHSQP
SFCSSAKSGK HSDPVWQVKW QKDDMDQNLN FFSVSSDGRI VSWTLVKRKL VHIDVIKLKV
EGSTTEVPEG LQLHPVGCGT AFDFHKEIDY MFLVGTEEGK IYKCSKSYSS QFLDTYDAHN
MSVDTVSWNP YHTKVFMSCS SDWTVKIWDH TIKTPMFIYD LNSAVGDVAW APYSSTVFAA
VTTDGKAHIF DLAINKYEAI CNQPVAAKKN RLTHVQFNLI HPIIIVGDDR GHIISLKLSP
NLRKMPKEKK GQEVQKGPAV EIAKLDKLLN LVREVKIKT
