SYCE1_HUMAN
ID SYCE1_HUMAN Reviewed; 351 AA.
AC Q8N0S2; B2RC80; Q9BWU3; Q9BWU4;
DT 28-NOV-2006, integrated into UniProtKB/Swiss-Prot.
DT 28-NOV-2006, sequence version 2.
DT 03-AUG-2022, entry version 148.
DE RecName: Full=Synaptonemal complex central element protein 1;
DE AltName: Full=Cancer/testis antigen 76;
DE Short=CT76;
GN Name=SYCE1; Synonyms=C10orf94;
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] (ISOFORMS 2 AND 3).
RC TISSUE=Fetal brain;
RX PubMed=11829491; DOI=10.1006/geno.2002.6690;
RA van Geel M., Dickson M.C., Beck A.F., Bolland D.J., Frants R.R.,
RA van der Maarel S.M., de Jong P.J., Hewitt J.E.;
RT "Genomic analysis of human chromosome 10q and 4q telomeres suggests a
RT common origin.";
RL Genomics 79:210-217(2002).
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=15164054; DOI=10.1038/nature02462;
RA Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L.,
RA Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K.,
RA Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L.,
RA Taylor A., Battles J., Bird C.P., Ainscough R., Almeida J.P.,
RA Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J.,
RA Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J., Brown J.Y.,
RA Burford D.C., Burrill W., Burton J., Cahill P., Camire D., Carter N.P.,
RA Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S., Corby N.,
RA Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L., Frankish A.,
RA Frankland J.A., Garner P., Garnett J., Gribble S., Griffiths C.,
RA Grocock R., Gustafson E., Hammond S., Harley J.L., Hart E., Heath P.D.,
RA Ho T.P., Hopkins B., Horne J., Howden P.J., Huckle E., Hynds C.,
RA Johnson C., Johnson D., Kana A., Kay M., Kimberley A.M., Kershaw J.K.,
RA Kokkinaki M., Laird G.K., Lawlor S., Lee H.M., Leongamornlert D.A.,
RA Laird G., Lloyd C., Lloyd D.M., Loveland J., Lovell J., McLaren S.,
RA McLay K.E., McMurray A., Mashreghi-Mohammadi M., Matthews L., Milne S.,
RA Nickerson T., Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V.,
RA Peck A.I., Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A.,
RA Ross M.T., Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M.,
RA Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W., Tracey A.,
RA Tromans A., Tsolas J., Wall M., Walsh J., Wang H., Weinstock K., West A.P.,
RA Willey D.L., Whitehead S.L., Wilming L., Wray P.W., Young L., Chen Y.,
RA Lovering R.C., Moschonas N.K., Siebert R., Fechtel K., Bentley D.,
RA Durbin R.M., Hubbard T., Doucette-Stamm L., Beck S., Smith D.R., Rogers J.;
RT "The DNA sequence and comparative analysis of human chromosome 10.";
RL Nature 429:375-381(2004).
RN [4]
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 [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND VARIANTS ASP-132
RP AND ARG-183.
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 [6]
RP INVOLVEMENT IN POF12.
RX PubMed=25062452; DOI=10.1210/jc.2014-1268;
RA de Vries L., Behar D.M., Smirin-Yosef P., Lagovsky I., Tzur S.,
RA Basel-Vanagaite L.;
RT "Exome sequencing reveals SYCE1 mutation associated with autosomal
RT recessive primary ovarian insufficiency.";
RL J. Clin. Endocrinol. Metab. 99:E2129-E2132(2014).
RN [7]
RP INVOLVEMENT IN SPGF15.
RX PubMed=25899990; DOI=10.1007/s10815-015-0445-y;
RA Maor-Sagie E., Cinnamon Y., Yaacov B., Shaag A., Goldsmidt H., Zenvirt S.,
RA Laufer N., Richler C., Frumkin A.;
RT "Deleterious mutation in SYCE1 is associated with non-obstructive
RT azoospermia.";
RL J. Assist. Reprod. Genet. 32:887-891(2015).
CC -!- FUNCTION: Major component of the transverse central element of
CC synaptonemal complexes (SCS), formed between homologous chromosomes
CC during meiotic prophase. Requires SYCP1 in order to be incorporated
CC into the central element. May have a role in the synaptonemal complex
CC assembly, stabilization and recombination.
CC {ECO:0000250|UniProtKB:Q9D495}.
CC -!- SUBUNIT: Homodimer. Found in a complex with SYCP1 and SYCE2. Interacts
CC with SYCP1, SYCE2 and SYCE3. Interacts with SIX6OS1.
CC {ECO:0000250|UniProtKB:Q9D495}.
CC -!- INTERACTION:
CC Q8N0S2; P09917: ALOX5; NbExp=6; IntAct=EBI-6872807, EBI-79934;
CC Q8N0S2; Q9BXY8: BEX2; NbExp=3; IntAct=EBI-6872807, EBI-745073;
CC Q8N0S2; Q13515: BFSP2; NbExp=11; IntAct=EBI-6872807, EBI-10229433;
CC Q8N0S2; Q8NA61: CBY2; NbExp=3; IntAct=EBI-6872807, EBI-741724;
CC Q8N0S2; Q8NA61-2: CBY2; NbExp=7; IntAct=EBI-6872807, EBI-11524851;
CC Q8N0S2; Q68D86: CCDC102B; NbExp=3; IntAct=EBI-6872807, EBI-10171570;
CC Q8N0S2; Q8TD31-3: CCHCR1; NbExp=3; IntAct=EBI-6872807, EBI-10175300;
CC Q8N0S2; Q494V2-2: CFAP100; NbExp=3; IntAct=EBI-6872807, EBI-11953200;
CC Q8N0S2; Q9BW66: CINP; NbExp=3; IntAct=EBI-6872807, EBI-739784;
CC Q8N0S2; O43739: CYTH3; NbExp=3; IntAct=EBI-6872807, EBI-741648;
CC Q8N0S2; Q3B7T1-5: EDRF1; NbExp=3; IntAct=EBI-6872807, EBI-10240074;
CC Q8N0S2; Q8IYI6: EXOC8; NbExp=3; IntAct=EBI-6872807, EBI-742102;
CC Q8N0S2; Q3B820: FAM161A; NbExp=3; IntAct=EBI-6872807, EBI-719941;
CC Q8N0S2; Q96MY7: FAM161B; NbExp=4; IntAct=EBI-6872807, EBI-7225287;
CC Q8N0S2; Q96CS2: HAUS1; NbExp=3; IntAct=EBI-6872807, EBI-2514791;
CC Q8N0S2; Q9P0W2: HMG20B; NbExp=3; IntAct=EBI-6872807, EBI-713401;
CC Q8N0S2; Q9UJC3: HOOK1; NbExp=3; IntAct=EBI-6872807, EBI-746704;
CC Q8N0S2; Q9UBY9: HSPB7; NbExp=3; IntAct=EBI-6872807, EBI-739361;
CC Q8N0S2; Q8NA54: IQUB; NbExp=3; IntAct=EBI-6872807, EBI-10220600;
CC Q8N0S2; Q92993: KAT5; NbExp=3; IntAct=EBI-6872807, EBI-399080;
CC Q8N0S2; Q9BVG8: KIFC3; NbExp=3; IntAct=EBI-6872807, EBI-2125614;
CC Q8N0S2; P05783: KRT18; NbExp=3; IntAct=EBI-6872807, EBI-297888;
CC Q8N0S2; P02545-2: LMNA; NbExp=3; IntAct=EBI-6872807, EBI-351953;
CC Q8N0S2; Q86WA8: LONP2; NbExp=3; IntAct=EBI-6872807, EBI-2513996;
CC Q8N0S2; O95983-2: MBD3; NbExp=3; IntAct=EBI-6872807, EBI-11978579;
CC Q8N0S2; B5MC10: MPV17; NbExp=4; IntAct=EBI-6872807, EBI-16440286;
CC Q8N0S2; Q96HT8: MRFAP1L1; NbExp=3; IntAct=EBI-6872807, EBI-748896;
CC Q8N0S2; Q9Y5B8: NME7; NbExp=6; IntAct=EBI-6872807, EBI-744782;
CC Q8N0S2; A0A0S2Z528: PSTPIP1; NbExp=3; IntAct=EBI-6872807, EBI-16430249;
CC Q8N0S2; Q15311: RALBP1; NbExp=3; IntAct=EBI-6872807, EBI-749285;
CC Q8N0S2; Q9BYM8: RBCK1; NbExp=3; IntAct=EBI-6872807, EBI-2340624;
CC Q8N0S2; Q06455-2: RUNX1T1; NbExp=3; IntAct=EBI-6872807, EBI-11984663;
CC Q8N0S2; Q9BWG6: SCNM1; NbExp=3; IntAct=EBI-6872807, EBI-748391;
CC Q8N0S2; Q96BD8: SKA1; NbExp=3; IntAct=EBI-6872807, EBI-741854;
CC Q8N0S2; Q969G3: SMARCE1; NbExp=3; IntAct=EBI-6872807, EBI-455078;
CC Q8N0S2; Q9H0A9-2: SPATC1L; NbExp=3; IntAct=EBI-6872807, EBI-11995806;
CC Q8N0S2; Q16385: SSX2B; NbExp=3; IntAct=EBI-6872807, EBI-2210673;
CC Q8N0S2; Q8N4C7: STX19; NbExp=3; IntAct=EBI-6872807, EBI-8484990;
CC Q8N0S2; P09493: TPM1; NbExp=3; IntAct=EBI-6872807, EBI-351158;
CC Q8N0S2; P09493-5: TPM1; NbExp=3; IntAct=EBI-6872807, EBI-10196387;
CC Q8N0S2; P09493-10: TPM1; NbExp=4; IntAct=EBI-6872807, EBI-12123928;
CC Q8N0S2; P06753: TPM3; NbExp=7; IntAct=EBI-6872807, EBI-355607;
CC Q8N0S2; Q5VU62: TPM3; NbExp=3; IntAct=EBI-6872807, EBI-10184033;
CC Q8N0S2; Q13077: TRAF1; NbExp=3; IntAct=EBI-6872807, EBI-359224;
CC Q8N0S2; Q8WV44: TRIM41; NbExp=3; IntAct=EBI-6872807, EBI-725997;
CC Q8N0S2; Q99816: TSG101; NbExp=6; IntAct=EBI-6872807, EBI-346882;
CC Q8N0S2; Q99757: TXN2; NbExp=3; IntAct=EBI-6872807, EBI-2932492;
CC Q8N0S2; Q9BRG1: VPS25; NbExp=3; IntAct=EBI-6872807, EBI-741945;
CC Q8N0S2; Q9Y3C0: WASHC3; NbExp=4; IntAct=EBI-6872807, EBI-712969;
CC Q8N0S2; Q15973: ZNF124; NbExp=3; IntAct=EBI-6872807, EBI-2555767;
CC Q8N0S2; PRO_0000449633 [P0DTD1]: rep; Xeno; NbExp=3; IntAct=EBI-6872807, EBI-25492395;
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000250|UniProtKB:Q9D495}.
CC Chromosome {ECO:0000250|UniProtKB:Q9D495}. Note=Associates with
CC chromatin. In prophase I stage of meiosis, localizes in the transverse
CC central elements of the central region between lateral elements of the
CC synaptonemal complexes. Found only where the chromosome cores are
CC synapsed. Colocalizes with SYCE2 in the central elements.
CC {ECO:0000250|UniProtKB:Q9D495}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q8N0S2-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q8N0S2-2; Sequence=VSP_021691, VSP_021692;
CC Name=3;
CC IsoId=Q8N0S2-3; Sequence=VSP_021690, VSP_021692;
CC -!- DISEASE: Premature ovarian failure 12 (POF12) [MIM:616947]: An ovarian
CC disorder defined as the cessation of ovarian function under the age of
CC 40 years. It is characterized by oligomenorrhea or amenorrhea, in the
CC presence of elevated levels of serum gonadotropins and low estradiol.
CC {ECO:0000269|PubMed:25062452}. Note=The disease is caused by variants
CC affecting the gene represented in this entry.
CC -!- DISEASE: Spermatogenic failure, 15 (SPGF15) [MIM:616950]: An
CC infertility disorder caused by spermatogenesis defects and
CC characterized by non-obstructive azoospermia due to complete meiotic
CC maturation arrest. SPGF15 inheritance is autosomal recessive.
CC {ECO:0000269|PubMed:25899990}. Note=The disease is caused by variants
CC affecting the gene represented in this entry.
CC -!- SIMILARITY: Belongs to the SYCE family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAH34821.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
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DR EMBL; AY027807; AAK14796.1; -; mRNA.
DR EMBL; AY027808; AAK14797.1; -; mRNA.
DR EMBL; AY028079; AAK21976.1; -; Genomic_DNA.
DR EMBL; AK314978; BAG37477.1; -; mRNA.
DR EMBL; AL161645; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471211; EAW61359.1; -; Genomic_DNA.
DR EMBL; BC034821; AAH34821.1; ALT_INIT; mRNA.
DR CCDS; CCDS7687.1; -. [Q8N0S2-2]
DR RefSeq; NP_001137235.1; NM_001143763.1.
DR RefSeq; NP_570140.1; NM_130784.3. [Q8N0S2-2]
DR AlphaFoldDB; Q8N0S2; -.
DR SMR; Q8N0S2; -.
DR BioGRID; 125023; 128.
DR IntAct; Q8N0S2; 55.
DR STRING; 9606.ENSP00000341282; -.
DR GlyGen; Q8N0S2; 1 site, 1 O-linked glycan (1 site).
DR iPTMnet; Q8N0S2; -.
DR PhosphoSitePlus; Q8N0S2; -.
DR BioMuta; SYCE1; -.
DR DMDM; 118573896; -.
DR EPD; Q8N0S2; -.
DR jPOST; Q8N0S2; -.
DR MassIVE; Q8N0S2; -.
DR MaxQB; Q8N0S2; -.
DR PaxDb; Q8N0S2; -.
DR PeptideAtlas; Q8N0S2; -.
DR PRIDE; Q8N0S2; -.
DR ProteomicsDB; 71447; -. [Q8N0S2-1]
DR ProteomicsDB; 71448; -. [Q8N0S2-2]
DR ProteomicsDB; 71449; -. [Q8N0S2-3]
DR Antibodypedia; 46492; 82 antibodies from 19 providers.
DR DNASU; 93426; -.
DR Ensembl; ENST00000343131.7; ENSP00000341282.5; ENSG00000171772.17. [Q8N0S2-1]
DR Ensembl; ENST00000368517.7; ENSP00000357503.3; ENSG00000171772.17. [Q8N0S2-2]
DR GeneID; 93426; -.
DR KEGG; hsa:93426; -.
DR MANE-Select; ENST00000343131.7; ENSP00000341282.5; NM_001143764.3; NP_001137236.1.
DR UCSC; uc001lno.2; human. [Q8N0S2-1]
DR CTD; 93426; -.
DR DisGeNET; 93426; -.
DR GeneCards; SYCE1; -.
DR HGNC; HGNC:28852; SYCE1.
DR HPA; ENSG00000171772; Tissue enriched (testis).
DR MalaCards; SYCE1; -.
DR MIM; 611486; gene.
DR MIM; 616947; phenotype.
DR MIM; 616950; phenotype.
DR neXtProt; NX_Q8N0S2; -.
DR OpenTargets; ENSG00000171772; -.
DR Orphanet; 399805; Male infertility with azoospermia or oligozoospermia due to single gene mutation.
DR Orphanet; 619; NON RARE IN EUROPE: Primary ovarian failure.
DR PharmGKB; PA134876767; -.
DR VEuPathDB; HostDB:ENSG00000171772; -.
DR eggNOG; ENOG502S24D; Eukaryota.
DR GeneTree; ENSGT00390000017352; -.
DR HOGENOM; CLU_068366_0_0_1; -.
DR InParanoid; Q8N0S2; -.
DR OMA; EFHKPEQ; -.
DR OrthoDB; 1275708at2759; -.
DR PhylomeDB; Q8N0S2; -.
DR TreeFam; TF337303; -.
DR PathwayCommons; Q8N0S2; -.
DR Reactome; R-HSA-1221632; Meiotic synapsis.
DR SignaLink; Q8N0S2; -.
DR SIGNOR; Q8N0S2; -.
DR BioGRID-ORCS; 93426; 10 hits in 1072 CRISPR screens.
DR GenomeRNAi; 93426; -.
DR Pharos; Q8N0S2; Tbio.
DR PRO; PR:Q8N0S2; -.
DR Proteomes; UP000005640; Chromosome 10.
DR RNAct; Q8N0S2; protein.
DR Bgee; ENSG00000171772; Expressed in right testis and 100 other tissues.
DR ExpressionAtlas; Q8N0S2; baseline and differential.
DR Genevisible; Q8N0S2; HS.
DR GO; GO:0000801; C:central element; ISS:HGNC-UCL.
DR GO; GO:0005694; C:chromosome; ISS:UniProtKB.
DR GO; GO:0000795; C:synaptonemal complex; IBA:GO_Central.
DR GO; GO:0051301; P:cell division; IEA:UniProtKB-KW.
DR GO; GO:0007130; P:synaptonemal complex assembly; IC:BHF-UCL.
DR InterPro; IPR026676; SYCE1.
DR PANTHER; PTHR21731; PTHR21731; 1.
DR Pfam; PF15233; SYCE1; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Cell cycle; Cell division; Chromosome; Coiled coil;
KW Meiosis; Nucleus; Premature ovarian failure; Reference proteome.
FT CHAIN 1..351
FT /note="Synaptonemal complex central element protein 1"
FT /id="PRO_0000261426"
FT REGION 1..31
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 267..351
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COILED 52..290
FT /evidence="ECO:0000255"
FT VAR_SEQ 1..128
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:11829491"
FT /id="VSP_021690"
FT VAR_SEQ 1..36
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:11829491,
FT ECO:0000303|PubMed:14702039"
FT /id="VSP_021691"
FT VAR_SEQ 308..351
FT /note="SPKPLKGERPGAAHQAGPDVLIGQEDTLHPDLSPRGFQEIKELF -> PRPG
FT RPVTWWS (in isoform 2 and isoform 3)"
FT /evidence="ECO:0000303|PubMed:11829491,
FT ECO:0000303|PubMed:14702039"
FT /id="VSP_021692"
FT VARIANT 132
FT /note="E -> D (in dbSNP:rs8181357)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_029385"
FT VARIANT 183
FT /note="K -> R (in dbSNP:rs3747881)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_029386"
FT VARIANT 317
FT /note="P -> A (in dbSNP:rs1313001903)"
FT /id="VAR_029387"
FT CONFLICT 321
FT /note="H -> R (in Ref. 5; AAH34821)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 351 AA; 39699 MW; 12E45FF6696080F8 CRC64;
MAGRSLTSKA EPTAGAVDRA EKAGGQDTSS QKIEDLMEMV QKLQKVGSLE PRVEVLINRI
NEVQQAKKKA NKDLGEARTI CEALQKELDS LHGEKVHLKE ILSKKQETLR ILRLHCQEKE
SEAHRKHTML QECKERISAL NLQIEEEKNK QRQLRLAFEE QLEDLMGQHK DLWDFHMPER
LAKEICALDS SKEQLLKEEK LVKATLEDVK HQLCSLCGAE GPSTLDEGLF LRSQEAAATV
QLFQEEHRKA EELLAAAAQR HQQLQQKCQQ QQQKRQRLKE ELEKHGMQVP AQAQSTQEEE
AGPGDVASPK PLKGERPGAA HQAGPDVLIG QEDTLHPDLS PRGFQEIKEL F
