DMRT1_HUMAN
ID DMRT1_HUMAN Reviewed; 373 AA.
AC Q9Y5R6; B2R913; Q6T1H8; Q6T1H9; Q8IW77;
DT 01-DEC-2000, integrated into UniProtKB/Swiss-Prot.
DT 10-MAY-2005, sequence version 2.
DT 03-AUG-2022, entry version 171.
DE RecName: Full=Doublesex- and mab-3-related transcription factor 1;
DE AltName: Full=DM domain expressed in testis protein 1;
GN Name=DMRT1; Synonyms=DMT1;
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 1), AND VARIANTS THR-45; SER-221;
RP SER-281 AND LEU-295.
RC TISSUE=Testis;
RX PubMed=10332030; DOI=10.1093/hmg/8.6.989;
RA Raymond C.S., Parker E.D., Kettlewell J.R., Brown L.G., Page D.C., Kusz K.,
RA Jaruzelska J., Reinberg Y., Flejter W.L., Bardwell V.J., Hirsch B.,
RA Zarkower D.;
RT "A region of human chromosome 9p required for testis development contains
RT two genes related to known sexual regulators.";
RL Hum. Mol. Genet. 8:989-996(1999).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT THR-45, AND TISSUE
RP SPECIFICITY.
RC TISSUE=Testis;
RX PubMed=10857744; DOI=10.1006/geno.2000.6160;
RA Calvari V., Bertini V., De Grandi A., Peverali G., Zuffardi O.,
RA Ferguson-Smith M., Knudtzon J., Camerino G., Borsani G., Guioli S.;
RT "A new submicroscopic deletion that refines the 9p region for sex
RT reversal.";
RL Genomics 65:203-212(2000).
RN [3]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 2 AND 3), AND VARIANT THR-45.
RX PubMed=16617334; DOI=10.1038/sj.cr.7310050;
RA Cheng H.H., Ying M., Tian Y.H., Guo Y., McElreavey K., Zhou R.J.;
RT "Transcriptional diversity of DMRT1 (dsx- and mab3-related transcription
RT factor 1) in human testis.";
RL Cell Res. 16:389-393(2006).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
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 [5]
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 [6]
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 (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [7]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
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 [8]
RP POSSIBLE INVOLVEMENT IN SRXY4.
RX PubMed=9718346; DOI=10.1086/302016;
RA Flejter W.L., Fergestad J., Gorski J., Varvill T., Chandrasekharappa S.;
RT "A gene involved in XY sex reversal is located on chromosome 9, distal to
RT marker D9S1779.";
RL Am. J. Hum. Genet. 63:794-802(1998).
RN [9]
RP POSSIBLE INVOLVEMENT IN SRXY4.
RX PubMed=9490411; DOI=10.1038/35618;
RA Raymond C.S., Shamu C.E., Shen M.M., Seifert K.J., Hirsch B., Hodgkin J.,
RA Zarkower D.;
RT "Evidence for evolutionary conservation of sex-determining genes.";
RL Nature 391:691-695(1998).
RN [10]
RP POSSIBLE INVOLVEMENT IN TGCT.
RX PubMed=20543847; DOI=10.1038/ng.607;
RA Turnbull C., Rapley E.A., Seal S., Pernet D., Renwick A., Hughes D.,
RA Ricketts M., Linger R., Nsengimana J., Deloukas P., Huddart R.A.,
RA Bishop D.T., Easton D.F., Stratton M.R., Rahman N.;
RT "Variants near DMRT1, TERT and ATF7IP are associated with testicular germ
RT cell cancer.";
RL Nat. Genet. 42:604-607(2010).
RN [11]
RP POSSIBLE INVOLVEMENT IN SRXY4.
RX PubMed=21048976; DOI=10.1371/journal.pone.0015392;
RA Tannour-Louet M., Han S., Corbett S.T., Louet J.F., Yatsenko S., Meyers L.,
RA Shaw C.A., Kang S.H., Cheung S.W., Lamb D.J.;
RT "Identification of de novo copy number variants associated with human
RT disorders of sexual development.";
RL PLoS ONE 5:E15392-E15392(2010).
RN [12]
RP TISSUE SPECIFICITY.
RX PubMed=23436708; DOI=10.1002/pmic.201200489;
RA Liu M., Hu Z., Qi L., Wang J., Zhou T., Guo Y., Zeng Y., Zheng B., Wu Y.,
RA Zhang P., Chen X., Tu W., Zhang T., Zhou Q., Jiang M., Guo X., Zhou Z.,
RA Sha J.;
RT "Scanning of novel cancer/testis proteins by human testis proteomic
RT analysis.";
RL Proteomics 13:1200-1210(2013).
CC -!- FUNCTION: Transcription factor that plays a key role in male sex
CC determination and differentiation by controlling testis development and
CC male germ cell proliferation. Plays a central role in spermatogonia by
CC inhibiting meiosis in undifferentiated spermatogonia and promoting
CC mitosis, leading to spermatogonial development and allowing abundant
CC and continuous production of sperm. Acts both as a transcription
CC repressor and activator: prevents meiosis by restricting retinoic acid
CC (RA)-dependent transcription and repressing STRA8 expression and
CC promotes spermatogonial development by activating spermatogonial
CC differentiation genes, such as SOHLH1. Also plays a key role in
CC postnatal sex maintenance by maintaining testis determination and
CC preventing feminization: represses transcription of female promoting
CC genes such as FOXL2 and activates male-specific genes. May act as a
CC tumor suppressor. May also play a minor role in oogenesis (By
CC similarity). {ECO:0000250}.
CC -!- INTERACTION:
CC Q9Y5R6; Q9Y5R6: DMRT1; NbExp=4; IntAct=EBI-7963304, EBI-7963304;
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00070}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1; Synonyms=DMRT1a;
CC IsoId=Q9Y5R6-1; Sequence=Displayed;
CC Name=2; Synonyms=DMRT1b;
CC IsoId=Q9Y5R6-2; Sequence=VSP_042961, VSP_042962;
CC Name=3; Synonyms=DMRT1c;
CC IsoId=Q9Y5R6-3; Sequence=VSP_042959, VSP_042960;
CC -!- TISSUE SPECIFICITY: Testis-specific. Expressed in prostate cancer (at
CC protein level). {ECO:0000269|PubMed:10857744,
CC ECO:0000269|PubMed:23436708}.
CC -!- DEVELOPMENTAL STAGE: Expressed in the genital ridges of six-week-old
CC male embryos. Becomes confined to the forming seminiferous tubules
CC (probably Sertoli cells) at seven weeks. Not detected in female
CC embryos.
CC -!- DISEASE: Testicular germ cell tumor (TGCT) [MIM:273300]: A common
CC malignancy in males representing 95% of all testicular neoplasms. TGCTs
CC have various pathologic subtypes including: unclassified intratubular
CC germ cell neoplasia, seminoma (including cases with
CC syncytiotrophoblastic cells), spermatocytic seminoma, embryonal
CC carcinoma, yolk sac tumor, choriocarcinoma, and teratoma.
CC {ECO:0000269|PubMed:20543847}. Note=The disease may be caused by
CC variants affecting the gene represented in this entry.
CC -!- DISEASE: 46,XY sex reversal 4 (SRXY4) [MIM:154230]: A condition
CC characterized by male-to-female sex reversal in the presence of a
CC normal 46,XY karyotype. Patients display complete or partial gonadal
CC dysgenesis and a chromosome 9p deletion. {ECO:0000269|PubMed:21048976,
CC ECO:0000269|PubMed:9490411, ECO:0000269|PubMed:9718346}. Note=The
CC disease may be caused by variants affecting the gene represented in
CC this entry.
CC -!- SIMILARITY: Belongs to the DMRT family. {ECO:0000305}.
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DR EMBL; AF130728; AAD40474.1; -; mRNA.
DR EMBL; AL162131; CAB82427.1; -; mRNA.
DR EMBL; AY442914; AAR89619.1; -; mRNA.
DR EMBL; AY442915; AAR89620.1; -; mRNA.
DR EMBL; AK313594; BAG36360.1; -; mRNA.
DR EMBL; AJ276801; CAB82851.1; -; mRNA.
DR EMBL; AL136365; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471071; EAW58820.1; -; Genomic_DNA.
DR EMBL; BC040847; AAH40847.1; -; mRNA.
DR CCDS; CCDS6442.1; -. [Q9Y5R6-1]
DR RefSeq; NP_068770.2; NM_021951.2. [Q9Y5R6-1]
DR PDB; 4YJ0; X-ray; 3.81 A; A/B/C=70-131.
DR PDBsum; 4YJ0; -.
DR AlphaFoldDB; Q9Y5R6; -.
DR SMR; Q9Y5R6; -.
DR BioGRID; 108101; 7.
DR DIP; DIP-58084N; -.
DR IntAct; Q9Y5R6; 2.
DR MINT; Q9Y5R6; -.
DR STRING; 9606.ENSP00000371711; -.
DR iPTMnet; Q9Y5R6; -.
DR PhosphoSitePlus; Q9Y5R6; -.
DR BioMuta; DMRT1; -.
DR DMDM; 83305820; -.
DR EPD; Q9Y5R6; -.
DR MassIVE; Q9Y5R6; -.
DR PaxDb; Q9Y5R6; -.
DR PeptideAtlas; Q9Y5R6; -.
DR PRIDE; Q9Y5R6; -.
DR ProteomicsDB; 86485; -. [Q9Y5R6-1]
DR ProteomicsDB; 86486; -. [Q9Y5R6-2]
DR ProteomicsDB; 86487; -. [Q9Y5R6-3]
DR Antibodypedia; 23777; 327 antibodies from 26 providers.
DR DNASU; 1761; -.
DR Ensembl; ENST00000382276.8; ENSP00000371711.3; ENSG00000137090.12. [Q9Y5R6-1]
DR GeneID; 1761; -.
DR KEGG; hsa:1761; -.
DR MANE-Select; ENST00000382276.8; ENSP00000371711.3; NM_021951.3; NP_068770.2.
DR UCSC; uc003zgv.5; human. [Q9Y5R6-1]
DR CTD; 1761; -.
DR DisGeNET; 1761; -.
DR GeneCards; DMRT1; -.
DR GeneReviews; DMRT1; -.
DR HGNC; HGNC:2934; DMRT1.
DR HPA; ENSG00000137090; Tissue enriched (testis).
DR MalaCards; DMRT1; -.
DR MIM; 154230; phenotype.
DR MIM; 273300; phenotype.
DR MIM; 602424; gene.
DR neXtProt; NX_Q9Y5R6; -.
DR OpenTargets; ENSG00000137090; -.
DR Orphanet; 242; 46,XY complete gonadal dysgenesis.
DR PharmGKB; PA27381; -.
DR VEuPathDB; HostDB:ENSG00000137090; -.
DR eggNOG; KOG3815; Eukaryota.
DR GeneTree; ENSGT00940000156489; -.
DR HOGENOM; CLU_069148_0_0_1; -.
DR InParanoid; Q9Y5R6; -.
DR OMA; CLMTECS; -.
DR OrthoDB; 1209937at2759; -.
DR PhylomeDB; Q9Y5R6; -.
DR TreeFam; TF317837; -.
DR PathwayCommons; Q9Y5R6; -.
DR Reactome; R-HSA-9690406; Transcriptional regulation of testis differentiation.
DR SignaLink; Q9Y5R6; -.
DR BioGRID-ORCS; 1761; 7 hits in 1086 CRISPR screens.
DR GeneWiki; DMRT1; -.
DR GenomeRNAi; 1761; -.
DR Pharos; Q9Y5R6; Tbio.
DR PRO; PR:Q9Y5R6; -.
DR Proteomes; UP000005640; Chromosome 9.
DR RNAct; Q9Y5R6; protein.
DR Bgee; ENSG00000137090; Expressed in buccal mucosa cell and 26 other tissues.
DR ExpressionAtlas; Q9Y5R6; baseline and differential.
DR Genevisible; Q9Y5R6; HS.
DR GO; GO:0000785; C:chromatin; ISA:NTNU_SB.
DR GO; GO:0005737; C:cytoplasm; IEA:Ensembl.
DR GO; GO:0001674; C:female germ cell nucleus; IEA:Ensembl.
DR GO; GO:0005634; C:nucleus; IDA:UniProtKB.
DR GO; GO:0003682; F:chromatin binding; IEA:Ensembl.
DR GO; GO:0000987; F:cis-regulatory region sequence-specific DNA binding; ISS:UniProtKB.
DR GO; GO:0001228; F:DNA-binding transcription activator activity, RNA polymerase II-specific; IEA:Ensembl.
DR GO; GO:0000981; F:DNA-binding transcription factor activity, RNA polymerase II-specific; ISA:NTNU_SB.
DR GO; GO:0042802; F:identical protein binding; IPI:IntAct.
DR GO; GO:0046872; F:metal ion binding; IEA:UniProtKB-KW.
DR GO; GO:0000978; F:RNA polymerase II cis-regulatory region sequence-specific DNA binding; IBA:GO_Central.
DR GO; GO:1990837; F:sequence-specific double-stranded DNA binding; IDA:ARUK-UCL.
DR GO; GO:0000902; P:cell morphogenesis; IEA:Ensembl.
DR GO; GO:0007281; P:germ cell development; IBA:GO_Central.
DR GO; GO:0008354; P:germ cell migration; IEA:Ensembl.
DR GO; GO:0035556; P:intracellular signal transduction; IEA:Ensembl.
DR GO; GO:0002176; P:male germ cell proliferation; ISS:UniProtKB.
DR GO; GO:0030238; P:male sex determination; ISS:UniProtKB.
DR GO; GO:0046661; P:male sex differentiation; ISS:UniProtKB.
DR GO; GO:0007127; P:meiosis I; IEA:Ensembl.
DR GO; GO:0045835; P:negative regulation of meiotic nuclear division; ISS:UniProtKB.
DR GO; GO:0000122; P:negative regulation of transcription by RNA polymerase II; ISS:UniProtKB.
DR GO; GO:0048599; P:oocyte development; IEA:Ensembl.
DR GO; GO:2000020; P:positive regulation of male gonad development; IEA:Ensembl.
DR GO; GO:0060903; P:positive regulation of meiosis I; IEA:Ensembl.
DR GO; GO:0045840; P:positive regulation of mitotic nuclear division; ISS:UniProtKB.
DR GO; GO:0045944; P:positive regulation of transcription by RNA polymerase II; ISS:UniProtKB.
DR GO; GO:1900107; P:regulation of nodal signaling pathway; IEA:Ensembl.
DR GO; GO:0006357; P:regulation of transcription by RNA polymerase II; IBA:GO_Central.
DR GO; GO:0060009; P:Sertoli cell development; IEA:Ensembl.
DR GO; GO:0060008; P:Sertoli cell differentiation; ISS:UniProtKB.
DR GO; GO:0007548; P:sex differentiation; IBA:GO_Central.
DR GO; GO:0007283; P:spermatogenesis; IEA:Ensembl.
DR Gene3D; 4.10.1040.10; -; 1.
DR InterPro; IPR001275; DM_DNA-bd.
DR InterPro; IPR036407; DM_DNA-bd_sf.
DR InterPro; IPR026607; DMRT.
DR InterPro; IPR022114; DMRT1-like.
DR PANTHER; PTHR12322; PTHR12322; 3.
DR Pfam; PF00751; DM; 1.
DR Pfam; PF12374; Dmrt1; 1.
DR SMART; SM00301; DM; 1.
DR SUPFAM; SSF82927; SSF82927; 1.
DR PROSITE; PS40000; DM_1; 1.
DR PROSITE; PS50809; DM_2; 1.
PE 1: Evidence at protein level;
KW 3D-structure; Alternative splicing; Developmental protein; Differentiation;
KW DNA-binding; Metal-binding; Nucleus; Phosphoprotein; Reference proteome;
KW Sexual differentiation; Transcription; Transcription regulation; Zinc.
FT CHAIN 1..373
FT /note="Doublesex- and mab-3-related transcription factor 1"
FT /id="PRO_0000207042"
FT DNA_BIND 72..118
FT /note="DM"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00070"
FT REGION 1..72
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 319..373
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 322..348
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 339
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q9QZ59"
FT VAR_SEQ 120..175
FT /note="ALRRQQAQEEELGISHPIPLPSAAELLVKRENNGSNPCLMTECSGTSQPPPA
FT SVPT -> GAGVREPGFSLSFFFFFFFFRWSLARLPRLQCSGAILAHCNSASRVQAILL
FT PQPPK (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:16617334"
FT /id="VSP_042959"
FT VAR_SEQ 176..373
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:16617334"
FT /id="VSP_042960"
FT VAR_SEQ 275
FT /note="M -> V (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:16617334"
FT /id="VSP_042961"
FT VAR_SEQ 276..373
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:16617334"
FT /id="VSP_042962"
FT VARIANT 45
FT /note="S -> T (in dbSNP:rs3739583)"
FT /evidence="ECO:0000269|PubMed:10332030,
FT ECO:0000269|PubMed:10857744, ECO:0000269|PubMed:16617334"
FT /id="VAR_009954"
FT VARIANT 221
FT /note="Y -> S"
FT /evidence="ECO:0000269|PubMed:10332030"
FT /id="VAR_009955"
FT VARIANT 281
FT /note="R -> S"
FT /evidence="ECO:0000269|PubMed:10332030"
FT /id="VAR_009956"
FT VARIANT 295
FT /note="P -> L (in dbSNP:rs902482318)"
FT /evidence="ECO:0000269|PubMed:10332030"
FT /id="VAR_009957"
SQ SEQUENCE 373 AA; 39473 MW; 23348B2C4A4733A1 CRC64;
MPNDEAFSKP STPSEAPHAP GVPPQGRAGG FGKASGALVG AASGSSAGGS SRGGGSGSGA
SDLGAGSKKS PRLPKCARCR NHGYASPLKG HKRFCMWRDC QCKKCNLIAE RQRVMAAQVA
LRRQQAQEEE LGISHPIPLP SAAELLVKRE NNGSNPCLMT ECSGTSQPPP ASVPTTAASE
GRMVIQDIPA VTSRGHVENT PDLVSDSTYY SSFYQPSLFP YYNNLYNCPQ YSMALAADSA
SGEVGNPLGG SPVKNSLRGL PGPYVPGQTG NQWQMKNMEN RHAMSSQYRM HSYYPPPSYL
GQSVPQFFTF EDAPSYPEAR ASVFSPPSSQ DSGLVSLSSS SPISNKSTKA VLECEPASEP
SSFTVTPVIE EDE
