TGIF1_HUMAN
ID TGIF1_HUMAN Reviewed; 401 AA.
AC Q15583; A6NE42; A6NLU7; F8VZB6; Q6ICR0; Q8N5X9; Q9NRS0;
DT 01-NOV-1997, integrated into UniProtKB/Swiss-Prot.
DT 25-NOV-2008, sequence version 3.
DT 03-AUG-2022, entry version 219.
DE RecName: Full=Homeobox protein TGIF1;
DE AltName: Full=5'-TG-3'-interacting factor 1;
GN Name=TGIF1; Synonyms=TGIF;
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 [MRNA] (ISOFORM 2).
RC TISSUE=Liver;
RX PubMed=8537382; DOI=10.1074/jbc.270.52.31178;
RA Bertolino E., Reimund B., Wildt-Perinic D., Clerc R.G.;
RT "A novel homeobox protein which recognizes a TGT core and functionally
RT interferes with a retinoid-responsive motif.";
RL J. Biol. Chem. 270:31178-31188(1995).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), AND VARIANT SER-292.
RC TISSUE=Brain;
RX PubMed=10764806; DOI=10.1074/jbc.m908382199;
RA Yang Y., Hwang C.K., D'Souza U.M., Lee S.-H., Junn E., Mouradian M.M.;
RT "Three-amino acid extension loop homeodomain proteins Meis2 and TGIF
RT differentially regulate transcription.";
RL J. Biol. Chem. 275:20734-20741(2000).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), AND VARIANT SER-292.
RA Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B.;
RT "Cloning of human full open reading frames in Gateway(TM) system entry
RT vector (pDONR201).";
RL Submitted (MAY-2004) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
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 [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16177791; DOI=10.1038/nature03983;
RA Nusbaum C., Zody M.C., Borowsky M.L., Kamal M., Kodira C.D., Taylor T.D.,
RA Whittaker C.A., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Yang X.,
RA Abouelleil A., Allen N.R., Anderson S., Bloom T., Bugalter B., Butler J.,
RA Cook A., DeCaprio D., Engels R., Garber M., Gnirke A., Hafez N., Hall J.L.,
RA Norman C.H., Itoh T., Jaffe D.B., Kuroki Y., Lehoczky J., Lui A.,
RA Macdonald P., Mauceli E., Mikkelsen T.S., Naylor J.W., Nicol R., Nguyen C.,
RA Noguchi H., O'Leary S.B., Piqani B., Smith C.L., Talamas J.A., Topham K.,
RA Totoki Y., Toyoda A., Wain H.M., Young S.K., Zeng Q., Zimmer A.R.,
RA Fujiyama A., Hattori M., Birren B.W., Sakaki Y., Lander E.S.;
RT "DNA sequence and analysis of human chromosome 18.";
RL Nature 437:551-555(2005).
RN [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton 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 (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [7]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2), AND NUCLEOTIDE
RP SEQUENCE [LARGE SCALE MRNA] OF 1-137 (ISOFORM 4).
RC TISSUE=Brain, Placenta, and Rhabdomyosarcoma;
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 [8]
RP INTERACTION WITH SMAD2, AND VARIANTS HPE4 CYS-157; ARG-192; ALA-280 AND
RP PHE-291.
RX PubMed=10835638; DOI=10.1038/76074;
RA Gripp K.W., Wotton D., Edwards M.C., Roessler E., Ades L., Meinecke P.,
RA Richieri-Costa A., Zackai E.H., Massague J., Muenke M., Elledge S.J.;
RT "Mutations in TGIF cause holoprosencephaly and link NODAL signalling to
RT human neural axis determination.";
RL Nat. Genet. 25:205-208(2000).
RN [9]
RP STRUCTURE BY NMR OF 171-248.
RG Northeast structural genomics consortium (NESG);
RT "Solution NMR structure of homeobox domain (171-248) of human homeobox
RT protein TGIF1, northeast structural genomics consortium target hr4411b.";
RL Submitted (OCT-2011) to the PDB data bank.
RN [10]
RP VARIANT HPE4 LEU-236.
RX PubMed=15221788; DOI=10.1002/humu.20056;
RA Dubourg C., Lazaro L., Pasquier L., Bendavid C., Blayau M., Le Duff F.,
RA Durou M.-R., Odent S., David V.;
RT "Molecular screening of SHH, ZIC2, SIX3, and TGIF genes in patients with
RT features of holoprosencephaly spectrum: mutation review and genotype-
RT phenotype correlations.";
RL Hum. Mutat. 24:43-51(2004).
CC -!- FUNCTION: Binds to a retinoid X receptor (RXR) responsive element from
CC the cellular retinol-binding protein II promoter (CRBPII-RXRE).
CC Inhibits the 9-cis-retinoic acid-dependent RXR alpha transcription
CC activation of the retinoic acid responsive element. Active
CC transcriptional corepressor of SMAD2. Links the nodal signaling pathway
CC to the bifurcation of the forebrain and the establishment of ventral
CC midline structures. May participate in the transmission of nuclear
CC signals during development and in the adult, as illustrated by the
CC down-modulation of the RXR alpha activities.
CC -!- SUBUNIT: Interacts with SMAD2 (PubMed:10835638). Interacts with CTBP,
CC SMAD3 and HDAC1. {ECO:0000269|PubMed:10835638}.
CC -!- INTERACTION:
CC Q15583; P05067: APP; NbExp=3; IntAct=EBI-714215, EBI-77613;
CC Q15583; O15169: AXIN1; NbExp=4; IntAct=EBI-714215, EBI-710484;
CC Q15583; Q9Y2T1: AXIN2; NbExp=5; IntAct=EBI-714215, EBI-4400025;
CC Q15583; Q13363-2: CTBP1; NbExp=3; IntAct=EBI-714215, EBI-10171858;
CC Q15583; P56545: CTBP2; NbExp=5; IntAct=EBI-714215, EBI-741533;
CC Q15583; Q06787-7: FMR1; NbExp=3; IntAct=EBI-714215, EBI-25856644;
CC Q15583; O00214: LGALS8; NbExp=10; IntAct=EBI-714215, EBI-740058;
CC Q15583; Q99750: MDFI; NbExp=4; IntAct=EBI-714215, EBI-724076;
CC Q15583; P53350: PLK1; NbExp=3; IntAct=EBI-714215, EBI-476768;
CC Q15583; O14494: PLPP1; NbExp=3; IntAct=EBI-714215, EBI-2865290;
CC Q15583; P29590: PML; NbExp=3; IntAct=EBI-714215, EBI-295890;
CC Q15583; P00491: PNP; NbExp=3; IntAct=EBI-714215, EBI-712238;
CC Q15583; P84022: SMAD3; NbExp=3; IntAct=EBI-714215, EBI-347161;
CC Q15583; Q9UBQ0-2: VPS29; NbExp=3; IntAct=EBI-714215, EBI-11141397;
CC Q15583; O35625: Axin1; Xeno; NbExp=2; IntAct=EBI-714215, EBI-2365912;
CC Q15583; O88566: Axin2; Xeno; NbExp=3; IntAct=EBI-714215, EBI-7690990;
CC Q15583-2; P05067: APP; NbExp=3; IntAct=EBI-12691451, EBI-77613;
CC Q15583-2; Q13363-2: CTBP1; NbExp=3; IntAct=EBI-12691451, EBI-10171858;
CC Q15583-2; P56545: CTBP2; NbExp=3; IntAct=EBI-12691451, EBI-741533;
CC Q15583-2; P27986-2: PIK3R1; NbExp=3; IntAct=EBI-12691451, EBI-9090282;
CC -!- SUBCELLULAR LOCATION: Nucleus.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=4;
CC Name=1;
CC IsoId=Q15583-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q15583-2; Sequence=VSP_013020, VSP_013021;
CC Name=3;
CC IsoId=Q15583-3; Sequence=VSP_043108, VSP_043109;
CC Name=4;
CC IsoId=Q15583-4; Sequence=VSP_046848;
CC -!- DISEASE: Holoprosencephaly 4 (HPE4) [MIM:142946]: A structural anomaly
CC of the brain, in which the developing forebrain fails to correctly
CC separate into right and left hemispheres. Holoprosencephaly is
CC genetically heterogeneous and associated with several distinct facies
CC and phenotypic variability. {ECO:0000269|PubMed:10835638,
CC ECO:0000269|PubMed:15221788}. Note=The disease is caused by variants
CC affecting the gene represented in this entry.
CC -!- SIMILARITY: Belongs to the TALE/TGIF homeobox family. {ECO:0000305}.
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DR EMBL; X89750; CAA61897.1; -; mRNA.
DR EMBL; AF179900; AAF81643.1; -; mRNA.
DR EMBL; CR450333; CAG29329.1; -; mRNA.
DR EMBL; AK291112; BAF83801.1; -; mRNA.
DR EMBL; AP001025; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471113; EAX01672.1; -; Genomic_DNA.
DR EMBL; BC000814; AAH00814.1; -; mRNA.
DR EMBL; BC031268; AAH31268.1; -; mRNA.
DR EMBL; BE296707; -; NOT_ANNOTATED_CDS; mRNA.
DR CCDS; CCDS11832.1; -. [Q15583-3]
DR CCDS; CCDS11833.1; -. [Q15583-2]
DR CCDS; CCDS11834.1; -. [Q15583-4]
DR CCDS; CCDS11835.1; -. [Q15583-4]
DR RefSeq; NP_001265611.1; NM_001278682.1.
DR RefSeq; NP_001265613.1; NM_001278684.1. [Q15583-2]
DR RefSeq; NP_001265615.1; NM_001278686.1. [Q15583-4]
DR RefSeq; NP_003235.1; NM_003244.3. [Q15583-2]
DR RefSeq; NP_733796.2; NM_170695.3. [Q15583-4]
DR RefSeq; NP_775299.1; NM_173207.2. [Q15583-3]
DR RefSeq; NP_775300.1; NM_173208.2. [Q15583-2]
DR RefSeq; NP_775301.1; NM_173209.2. [Q15583-4]
DR RefSeq; NP_775302.1; NM_173210.2. [Q15583-4]
DR RefSeq; NP_775303.1; NM_173211.1. [Q15583-4]
DR RefSeq; NP_777480.1; NM_174886.2. [Q15583-4]
DR RefSeq; XP_011524037.1; XM_011525735.2.
DR RefSeq; XP_016881447.1; XM_017025958.1. [Q15583-2]
DR RefSeq; XP_016881448.1; XM_017025959.1.
DR PDB; 2LK2; NMR; -; A=171-248.
DR PDB; 6FQP; X-ray; 2.42 A; A/B=150-248.
DR PDB; 6FQQ; X-ray; 3.25 A; A/B/D/E=161-229.
DR PDBsum; 2LK2; -.
DR PDBsum; 6FQP; -.
DR PDBsum; 6FQQ; -.
DR AlphaFoldDB; Q15583; -.
DR BMRB; Q15583; -.
DR SASBDB; Q15583; -.
DR SMR; Q15583; -.
DR BioGRID; 112908; 29.
DR CORUM; Q15583; -.
DR ELM; Q15583; -.
DR IntAct; Q15583; 22.
DR MINT; Q15583; -.
DR STRING; 9606.ENSP00000327959; -.
DR iPTMnet; Q15583; -.
DR PhosphoSitePlus; Q15583; -.
DR BioMuta; TGIF1; -.
DR DMDM; 215274200; -.
DR EPD; Q15583; -.
DR jPOST; Q15583; -.
DR MassIVE; Q15583; -.
DR MaxQB; Q15583; -.
DR PaxDb; Q15583; -.
DR PeptideAtlas; Q15583; -.
DR PRIDE; Q15583; -.
DR ProteomicsDB; 60646; -. [Q15583-1]
DR ProteomicsDB; 60647; -. [Q15583-2]
DR ProteomicsDB; 60648; -. [Q15583-3]
DR ProteomicsDB; 958; -.
DR ABCD; Q15583; 1 sequenced antibody.
DR Antibodypedia; 3890; 396 antibodies from 33 providers.
DR DNASU; 7050; -.
DR Ensembl; ENST00000330513.10; ENSP00000327959.6; ENSG00000177426.22. [Q15583-4]
DR Ensembl; ENST00000343820.10; ENSP00000339631.6; ENSG00000177426.22. [Q15583-2]
DR Ensembl; ENST00000345133.9; ENSP00000343969.5; ENSG00000177426.22. [Q15583-4]
DR Ensembl; ENST00000400167.6; ENSP00000383031.2; ENSG00000177426.22. [Q15583-4]
DR Ensembl; ENST00000401449.5; ENSP00000385206.1; ENSG00000177426.22. [Q15583-4]
DR Ensembl; ENST00000405385.7; ENSP00000384970.2; ENSG00000177426.22. [Q15583-4]
DR Ensembl; ENST00000407501.6; ENSP00000384133.2; ENSG00000177426.22. [Q15583-2]
DR Ensembl; ENST00000472042.1; ENSP00000449501.1; ENSG00000177426.22. [Q15583-4]
DR Ensembl; ENST00000548489.6; ENSP00000447747.2; ENSG00000177426.22. [Q15583-4]
DR Ensembl; ENST00000551541.5; ENSP00000450025.1; ENSG00000177426.22. [Q15583-4]
DR Ensembl; ENST00000618001.4; ENSP00000483499.1; ENSG00000177426.22. [Q15583-3]
DR GeneID; 7050; -.
DR KEGG; hsa:7050; -.
DR MANE-Select; ENST00000343820.10; ENSP00000339631.6; NM_003244.4; NP_003235.1. [Q15583-2]
DR UCSC; uc002klu.5; human. [Q15583-1]
DR CTD; 7050; -.
DR DisGeNET; 7050; -.
DR GeneCards; TGIF1; -.
DR GeneReviews; TGIF1; -.
DR HGNC; HGNC:11776; TGIF1.
DR HPA; ENSG00000177426; Low tissue specificity.
DR MalaCards; TGIF1; -.
DR MIM; 142946; phenotype.
DR MIM; 602630; gene.
DR neXtProt; NX_Q15583; -.
DR OpenTargets; ENSG00000177426; -.
DR Orphanet; 93925; Alobar holoprosencephaly.
DR Orphanet; 93924; Lobar holoprosencephaly.
DR Orphanet; 280200; Microform holoprosencephaly.
DR Orphanet; 93926; Midline interhemispheric variant of holoprosencephaly.
DR Orphanet; 220386; Semilobar holoprosencephaly.
DR Orphanet; 280195; Septopreoptic holoprosencephaly.
DR PharmGKB; PA36489; -.
DR VEuPathDB; HostDB:ENSG00000177426; -.
DR eggNOG; KOG0773; Eukaryota.
DR GeneTree; ENSGT00940000155230; -.
DR InParanoid; Q15583; -.
DR OMA; FPLCQSV; -.
DR OrthoDB; 1573375at2759; -.
DR PhylomeDB; Q15583; -.
DR TreeFam; TF318093; -.
DR PathwayCommons; Q15583; -.
DR Reactome; R-HSA-2173795; Downregulation of SMAD2/3:SMAD4 transcriptional activity.
DR Reactome; R-HSA-2173796; SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription.
DR SignaLink; Q15583; -.
DR SIGNOR; Q15583; -.
DR BioGRID-ORCS; 7050; 71 hits in 1101 CRISPR screens.
DR ChiTaRS; TGIF1; human.
DR EvolutionaryTrace; Q15583; -.
DR GeneWiki; Homeobox_protein_TGIF1; -.
DR GenomeRNAi; 7050; -.
DR Pharos; Q15583; Tbio.
DR PRO; PR:Q15583; -.
DR Proteomes; UP000005640; Chromosome 18.
DR RNAct; Q15583; protein.
DR Bgee; ENSG00000177426; Expressed in stromal cell of endometrium and 183 other tissues.
DR ExpressionAtlas; Q15583; baseline and differential.
DR Genevisible; Q15583; HS.
DR GO; GO:0000785; C:chromatin; ISA:NTNU_SB.
DR GO; GO:0005654; C:nucleoplasm; IDA:HPA.
DR GO; GO:0003700; F:DNA-binding transcription factor activity; TAS:ProtInc.
DR GO; GO:0000981; F:DNA-binding transcription factor activity, RNA polymerase II-specific; ISA:NTNU_SB.
DR GO; GO:0001227; F:DNA-binding transcription repressor activity, RNA polymerase II-specific; IDA:NTNU_SB.
DR GO; GO:0000978; F:RNA polymerase II cis-regulatory region sequence-specific DNA binding; IDA:NTNU_SB.
DR GO; GO:1990837; F:sequence-specific double-stranded DNA binding; IDA:ARUK-UCL.
DR GO; GO:0000122; P:negative regulation of transcription by RNA polymerase II; IDA:NTNU_SB.
DR GO; GO:0006357; P:regulation of transcription by RNA polymerase II; IBA:GO_Central.
DR CDD; cd00086; homeodomain; 1.
DR InterPro; IPR009057; Homeobox-like_sf.
DR InterPro; IPR001356; Homeobox_dom.
DR InterPro; IPR008422; Homeobox_KN_domain.
DR Pfam; PF05920; Homeobox_KN; 1.
DR SMART; SM00389; HOX; 1.
DR SUPFAM; SSF46689; SSF46689; 1.
DR PROSITE; PS50071; HOMEOBOX_2; 1.
PE 1: Evidence at protein level;
KW 3D-structure; Alternative splicing; Disease variant; DNA-binding;
KW Holoprosencephaly; Homeobox; Nucleus; Reference proteome; Repressor;
KW Transcription; Transcription regulation.
FT CHAIN 1..401
FT /note="Homeobox protein TGIF1"
FT /id="PRO_0000049318"
FT DNA_BIND 164..226
FT /note="Homeobox; TALE-type"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00108"
FT REGION 1..34
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 78..127
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 139..170
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 274..293
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOTIF 153..157
FT /note="CTBP-binding motif"
FT VAR_SEQ 1..149
FT /note="Missing (in isoform 4)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_046848"
FT VAR_SEQ 1..129
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:10764806,
FT ECO:0000303|PubMed:15489334, ECO:0000303|PubMed:8537382,
FT ECO:0000303|Ref.3"
FT /id="VSP_013020"
FT VAR_SEQ 1..115
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_043108"
FT VAR_SEQ 116..134
FT /note="PSQGAQGPAPRRRLLETMK -> MTCSGKSCALARSSLTSSQ (in
FT isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_043109"
FT VAR_SEQ 130..133
FT /note="LETM -> MKGK (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:10764806,
FT ECO:0000303|PubMed:15489334, ECO:0000303|PubMed:8537382,
FT ECO:0000303|Ref.3"
FT /id="VSP_013021"
FT VARIANT 157
FT /note="S -> C (in HPE4; dbSNP:rs121909066)"
FT /evidence="ECO:0000269|PubMed:10835638"
FT /id="VAR_009961"
FT VARIANT 192
FT /note="P -> R (in HPE4; dbSNP:rs121909067)"
FT /evidence="ECO:0000269|PubMed:10835638"
FT /id="VAR_009962"
FT VARIANT 236
FT /note="Q -> L (in HPE4; dbSNP:rs28939693)"
FT /evidence="ECO:0000269|PubMed:15221788"
FT /id="VAR_023803"
FT VARIANT 280
FT /note="T -> A (in HPE4; dbSNP:rs121909068)"
FT /evidence="ECO:0000269|PubMed:10835638"
FT /id="VAR_009963"
FT VARIANT 289
FT /note="P -> S (in dbSNP:rs11571512)"
FT /id="VAR_047363"
FT VARIANT 291
FT /note="S -> F (in HPE4; dbSNP:rs121909069)"
FT /evidence="ECO:0000269|PubMed:10835638"
FT /id="VAR_009964"
FT VARIANT 292
FT /note="P -> L (in dbSNP:rs2229333)"
FT /id="VAR_020151"
FT VARIANT 292
FT /note="P -> S (in dbSNP:rs4468717)"
FT /evidence="ECO:0000269|PubMed:10764806, ECO:0000269|Ref.3"
FT /id="VAR_061268"
FT CONFLICT 96
FT /note="P -> Q (in Ref. 7; AAH31268)"
FT /evidence="ECO:0000305"
FT HELIX 173..185
FT /evidence="ECO:0007829|PDB:6FQP"
FT TURN 186..188
FT /evidence="ECO:0007829|PDB:6FQP"
FT HELIX 194..204
FT /evidence="ECO:0007829|PDB:6FQP"
FT HELIX 208..221
FT /evidence="ECO:0007829|PDB:6FQP"
FT HELIX 223..228
FT /evidence="ECO:0007829|PDB:6FQP"
SQ SEQUENCE 401 AA; 43013 MW; 4D9C76AFB37A29F0 CRC64;
MVLAQSRVSA GVGSPHCSGS GGGGSDSFPW PASHPGNPQC SFSTAFLASP RLSRGTLAYL
PPAPWSSLAT PSALLGSSCA PPPPPARCPQ PRALSPELGT KAGPRRPHRW ELPRSPSQGA
QGPAPRRRLL ETMKGIVAAS GSETEDEDSM DIPLDLSSSA GSGKRRRRGN LPKESVQILR
DWLYEHRYNA YPSEQEKALL SQQTHLSTLQ VCNWFINARR RLLPDMLRKD GKDPNQFTIS
RRGAKISETS SVESVMGIKN FMPALEETPF HSCTAGPNPT LGRPLSPKPS SPGSVLARPS
VICHTTVTAL KDVPFSLCQS VGVGQNTDIQ QIAAKNFTDT SLMYPEDTCK SGPSTNTQSG
LFNTPPPTPP DLNQDFSGFQ LLVDVALKRA AEMELQAKLT A
