CTSRT_HUMAN
ID CTSRT_HUMAN Reviewed; 1820 AA.
AC Q53TS8; C9IZH7; E9PGG4; Q8NCN6; Q96LN4;
DT 10-JAN-2006, integrated into UniProtKB/Swiss-Prot.
DT 03-AUG-2022, sequence version 2.
DT 03-AUG-2022, entry version 129.
DE RecName: Full=Cation channel sperm-associated targeting subunit tau {ECO:0000305|PubMed:34998468};
DE Short=CatSper-tau {ECO:0000303|PubMed:34998468};
DE AltName: Full=Amyotrophic lateral sclerosis 2 chromosomal region candidate gene 11 protein;
DE AltName: Full=C2 calcium-dependent domain-containing protein 6;
GN Name=C2CD6 {ECO:0000312|HGNC:HGNC:14438};
GN Synonyms=ALS2CR11, CATSPERT {ECO:0000303|PubMed:34998468};
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] (ISOFORM 2), AND VARIANT GLN-376.
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 [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 3 AND 4), AND VARIANT
RP GLN-376.
RC TISSUE=Heart, and Testis;
RX PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D.,
RA Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A.,
RA Wiemann S., Schupp I.;
RT "The full-ORF clone resource of the German cDNA consortium.";
RL BMC Genomics 8:399-399(2007).
RN [3]
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 [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND VARIANT GLN-376.
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 VARIANT [LARGE SCALE ANALYSIS] MET-123.
RX PubMed=16959974; DOI=10.1126/science.1133427;
RA Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D.,
RA Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P.,
RA Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V.,
RA Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H.,
RA Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W.,
RA Velculescu V.E.;
RT "The consensus coding sequences of human breast and colorectal cancers.";
RL Science 314:268-274(2006).
RN [6]
RP ALTERNATIVE SPLICING, AND SUBCELLULAR LOCATION.
RX PubMed=34998468; DOI=10.1016/j.celrep.2021.110226;
RA Hwang J.Y., Wang H., Lu Y., Ikawa M., Chung J.J.;
RT "C2cd6-encoded CatSpertau targets sperm calcium channel to Ca2+ signaling
RT domains in the flagellar membrane.";
RL Cell Rep. 38:110226-110226(2022).
CC -!- FUNCTION: Auxiliary component of the CatSper complex, a complex
CC involved in sperm cell hyperactivation. Sperm cell hyperactivation is
CC needed for sperm motility which is essential late in the preparation of
CC sperm for fertilization. Required for CatSper complex targeting and
CC trafficking into the quadrilinear nanodomains. Targets the preassembled
CC CatSper complexes to elongating flagella, where it links the channel-
CC carrying vesicles and motor proteins.
CC {ECO:0000250|UniProtKB:A0A5F8MPU3}.
CC -!- SUBUNIT: Component of the CatSper complex or CatSpermasome composed of
CC the core pore-forming members CATSPER1, CATSPER2, CATSPER3 and CATSPER4
CC as well as auxiliary members CATSPERB, CATSPERG, CATSPERD, CATSPERE,
CC CATSPERZ, C2CD6/CATSPERT, TMEM249, TMEM262 and EFCAB9. HSPA1 may be an
CC additional auxiliary complex member. The core complex members CATSPER1,
CC CATSPER2, CATSPER3 and CATSPER4 form a heterotetrameric channel. The
CC auxiliary CATSPERB, CATSPERG, CATSPERD and CATSPERE subunits form a
CC pavilion-like structure over the pore which stabilizes the complex
CC through interactions with CATSPER4, CATSPER3, CATSPER1 and CATSPER2
CC respectively. SLCO6C1 interacts with CATSPERE and TMEM262/CATSPERH
CC interacts with CATSPERB, further stabilizing the complex.
CC C2CD6/CATSPERT interacts at least with CATSPERD and is required for
CC targeting the CatSper complex in the flagellar membrane.
CC {ECO:0000250|UniProtKB:A0A5F8MPU3}.
CC -!- INTERACTION:
CC Q53TS8; Q8WXI4-2: ACOT11; NbExp=3; IntAct=EBI-739879, EBI-17721098;
CC Q53TS8; Q08043: ACTN3; NbExp=3; IntAct=EBI-739879, EBI-2880652;
CC Q53TS8; Q8NFD2: ANKK1; NbExp=3; IntAct=EBI-739879, EBI-13280688;
CC Q53TS8; P63010-2: AP2B1; NbExp=3; IntAct=EBI-739879, EBI-11529439;
CC Q53TS8; Q96RK4: BBS4; NbExp=3; IntAct=EBI-739879, EBI-1805814;
CC Q53TS8; Q6PI77: BHLHB9; NbExp=3; IntAct=EBI-739879, EBI-11519926;
CC Q53TS8; Q9H257: CARD9; NbExp=3; IntAct=EBI-739879, EBI-751319;
CC Q53TS8; P0C7W6: CCDC172; NbExp=3; IntAct=EBI-739879, EBI-2548868;
CC Q53TS8; Q2TAC2-2: CCDC57; NbExp=3; IntAct=EBI-739879, EBI-10961624;
CC Q53TS8; Q01850: CDR2; NbExp=3; IntAct=EBI-739879, EBI-1181367;
CC Q53TS8; Q9NX63: CHCHD3; NbExp=3; IntAct=EBI-739879, EBI-743375;
CC Q53TS8; Q9UKZ1: CNOT11; NbExp=3; IntAct=EBI-739879, EBI-2562014;
CC Q53TS8; Q8WUE5: CT55; NbExp=3; IntAct=EBI-739879, EBI-6873363;
CC Q53TS8; Q9NRI5-2: DISC1; NbExp=3; IntAct=EBI-739879, EBI-11988027;
CC Q53TS8; Q96EY1-2: DNAJA3; NbExp=3; IntAct=EBI-739879, EBI-3952284;
CC Q53TS8; Q9NTX9: FAM217B; NbExp=3; IntAct=EBI-739879, EBI-19153639;
CC Q53TS8; Q14192: FHL2; NbExp=3; IntAct=EBI-739879, EBI-701903;
CC Q53TS8; Q08379: GOLGA2; NbExp=6; IntAct=EBI-739879, EBI-618309;
CC Q53TS8; Q6IC98: GRAMD4; NbExp=3; IntAct=EBI-739879, EBI-10962409;
CC Q53TS8; P54257: HAP1; NbExp=3; IntAct=EBI-739879, EBI-712814;
CC Q53TS8; O75031: HSF2BP; NbExp=3; IntAct=EBI-739879, EBI-7116203;
CC Q53TS8; Q9UJY1: HSPB8; NbExp=3; IntAct=EBI-739879, EBI-739074;
CC Q53TS8; Q9UKT9: IKZF3; NbExp=3; IntAct=EBI-739879, EBI-747204;
CC Q53TS8; O75564-2: JRK; NbExp=3; IntAct=EBI-739879, EBI-17181882;
CC Q53TS8; Q9BVG8-5: KIFC3; NbExp=3; IntAct=EBI-739879, EBI-14069005;
CC Q53TS8; A1A4E9: KRT13; NbExp=3; IntAct=EBI-739879, EBI-10171552;
CC Q53TS8; P19012: KRT15; NbExp=3; IntAct=EBI-739879, EBI-739566;
CC Q53TS8; Q15323: KRT31; NbExp=6; IntAct=EBI-739879, EBI-948001;
CC Q53TS8; Q6A162: KRT40; NbExp=3; IntAct=EBI-739879, EBI-10171697;
CC Q53TS8; O95678: KRT75; NbExp=3; IntAct=EBI-739879, EBI-2949715;
CC Q53TS8; P48742: LHX1; NbExp=5; IntAct=EBI-739879, EBI-11990598;
CC Q53TS8; Q9UBR4-2: LHX3; NbExp=3; IntAct=EBI-739879, EBI-12039345;
CC Q53TS8; Q9BRK4: LZTS2; NbExp=3; IntAct=EBI-739879, EBI-741037;
CC Q53TS8; Q96EZ8: MCRS1; NbExp=3; IntAct=EBI-739879, EBI-348259;
CC Q53TS8; Q9HAF1: MEAF6; NbExp=3; IntAct=EBI-739879, EBI-399266;
CC Q53TS8; P50221: MEOX1; NbExp=3; IntAct=EBI-739879, EBI-2864512;
CC Q53TS8; Q8TD10: MIPOL1; NbExp=3; IntAct=EBI-739879, EBI-2548751;
CC Q53TS8; Q5JR59: MTUS2; NbExp=3; IntAct=EBI-739879, EBI-742948;
CC Q53TS8; Q13285: NR5A1; NbExp=3; IntAct=EBI-739879, EBI-874629;
CC Q53TS8; P26367: PAX6; NbExp=3; IntAct=EBI-739879, EBI-747278;
CC Q53TS8; Q4G0R1: PIBF1; NbExp=3; IntAct=EBI-739879, EBI-14066006;
CC Q53TS8; O76064: RNF8; NbExp=3; IntAct=EBI-739879, EBI-373337;
CC Q53TS8; Q9UM82: SPATA2; NbExp=3; IntAct=EBI-739879, EBI-744066;
CC Q53TS8; Q9Y6A5: TACC3; NbExp=3; IntAct=EBI-739879, EBI-2554984;
CC Q53TS8; Q8TDR4: TCP10L; NbExp=3; IntAct=EBI-739879, EBI-3923210;
CC Q53TS8; Q9UBB9: TFIP11; NbExp=3; IntAct=EBI-739879, EBI-1105213;
CC Q53TS8; Q08117-2: TLE5; NbExp=3; IntAct=EBI-739879, EBI-11741437;
CC Q53TS8; Q13077: TRAF1; NbExp=3; IntAct=EBI-739879, EBI-359224;
CC Q53TS8; Q12933: TRAF2; NbExp=3; IntAct=EBI-739879, EBI-355744;
CC Q53TS8; P36406: TRIM23; NbExp=3; IntAct=EBI-739879, EBI-740098;
CC Q53TS8; Q9BYV2: TRIM54; NbExp=3; IntAct=EBI-739879, EBI-2130429;
CC Q53TS8; Q96PN8: TSSK3; NbExp=3; IntAct=EBI-739879, EBI-3918381;
CC Q53TS8; Q08AM6: VAC14; NbExp=3; IntAct=EBI-739879, EBI-2107455;
CC Q53TS8; Q8N1B4: VPS52; NbExp=3; IntAct=EBI-739879, EBI-2799833;
CC Q53TS8; Q6S9Z5: ZNF474; NbExp=3; IntAct=EBI-739879, EBI-17269964;
CC -!- SUBCELLULAR LOCATION: Cell projection, cilium, flagellum membrane
CC {ECO:0000250|UniProtKB:E9Q9F6}. Note=Specifically located in the
CC principal piece of sperm tail. {ECO:0000250|UniProtKB:E9Q9F6}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=4;
CC Name=1; Synonyms=L {ECO:0000303|PubMed:34998468};
CC IsoId=Q53TS8-4; Sequence=Displayed;
CC Name=2; Synonyms=S {ECO:0000303|PubMed:34998468};
CC IsoId=Q53TS8-1; Sequence=VSP_061600, VSP_061602;
CC Name=3;
CC IsoId=Q53TS8-2; Sequence=VSP_061598;
CC Name=4;
CC IsoId=Q53TS8-3; Sequence=VSP_061599, VSP_061601;
CC -!- TISSUE SPECIFICITY: Expressed in testis (at protein level).
CC {ECO:0000269|PubMed:34998468}.
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DR EMBL; AK058080; BAB71654.1; -; mRNA.
DR EMBL; AL833429; -; NOT_ANNOTATED_CDS; mRNA.
DR EMBL; BX648732; -; NOT_ANNOTATED_CDS; mRNA.
DR EMBL; AC007282; AAY14693.1; -; Genomic_DNA.
DR EMBL; BC030659; AAH30659.1; -; mRNA.
DR CCDS; CCDS2349.1; -. [Q53TS8-1]
DR CCDS; CCDS54428.1; -. [Q53TS8-2]
DR CCDS; CCDS54429.1; -. [Q53TS8-3]
DR CCDS; CCDS54430.1; -. [Q53TS8-4]
DR RefSeq; NP_001161688.1; NM_001168216.1. [Q53TS8-2]
DR RefSeq; NP_001161689.1; NM_001168217.1. [Q53TS8-3]
DR RefSeq; NP_001161693.1; NM_001168221.1. [Q53TS8-4]
DR RefSeq; NP_689738.3; NM_152525.5. [Q53TS8-1]
DR RefSeq; XP_011509038.1; XM_011510736.2. [Q53TS8-2]
DR AlphaFoldDB; Q53TS8; -.
DR BioGRID; 127358; 72.
DR IntAct; Q53TS8; 64.
DR STRING; 9606.ENSP00000409937; -.
DR iPTMnet; Q53TS8; -.
DR PhosphoSitePlus; Q53TS8; -.
DR BioMuta; C2CD6; -.
DR DMDM; 74726955; -.
DR jPOST; Q53TS8; -.
DR MassIVE; Q53TS8; -.
DR MaxQB; Q53TS8; -.
DR PaxDb; Q53TS8; -.
DR PeptideAtlas; Q53TS8; -.
DR PRIDE; Q53TS8; -.
DR ProteomicsDB; 20317; -.
DR Antibodypedia; 35141; 161 antibodies from 22 providers.
DR DNASU; 151254; -.
DR Ensembl; ENST00000286195.7; ENSP00000286195.3; ENSG00000155754.15. [Q53TS8-1]
DR Ensembl; ENST00000439140.6; ENSP00000409937.1; ENSG00000155754.15. [Q53TS8-4]
DR Ensembl; ENST00000439802.5; ENSP00000400672.1; ENSG00000155754.15. [Q53TS8-2]
DR Ensembl; ENST00000450242.1; ENSP00000399016.1; ENSG00000155754.15. [Q53TS8-3]
DR GeneID; 151254; -.
DR KEGG; hsa:151254; -.
DR MANE-Select; ENST00000439140.6; ENSP00000409937.1; NM_001168221.2; NP_001161693.1. [Q53TS8-4]
DR UCSC; uc002uye.4; human. [Q53TS8-1]
DR CTD; 151254; -.
DR DisGeNET; 151254; -.
DR GeneCards; C2CD6; -.
DR HGNC; HGNC:14438; C2CD6.
DR HPA; ENSG00000155754; Tissue enriched (testis).
DR MIM; 619776; gene.
DR neXtProt; NX_Q53TS8; -.
DR OpenTargets; ENSG00000155754; -.
DR PharmGKB; PA24734; -.
DR VEuPathDB; HostDB:ENSG00000155754; -.
DR eggNOG; ENOG502S23V; Eukaryota.
DR GeneTree; ENSGT00390000018209; -.
DR HOGENOM; CLU_030502_1_0_1; -.
DR InParanoid; Q53TS8; -.
DR OMA; DEASECP; -.
DR OrthoDB; 179359at2759; -.
DR PhylomeDB; Q53TS8; -.
DR TreeFam; TF328407; -.
DR PathwayCommons; Q53TS8; -.
DR SignaLink; Q53TS8; -.
DR BioGRID-ORCS; 151254; 17 hits in 1058 CRISPR screens.
DR ChiTaRS; ALS2CR11; human.
DR GenomeRNAi; 151254; -.
DR Pharos; Q53TS8; Tdark.
DR PRO; PR:Q53TS8; -.
DR Proteomes; UP000005640; Chromosome 2.
DR RNAct; Q53TS8; protein.
DR Bgee; ENSG00000155754; Expressed in sperm and 96 other tissues.
DR ExpressionAtlas; Q53TS8; baseline and differential.
DR Genevisible; Q53TS8; HS.
DR InterPro; IPR000008; C2_dom.
DR InterPro; IPR035892; C2_domain_sf.
DR InterPro; IPR031462; C2CD6.
DR PANTHER; PTHR21665; PTHR21665; 2.
DR Pfam; PF15729; ALS2CR11; 1.
DR SUPFAM; SSF49562; SSF49562; 1.
DR PROSITE; PS50004; C2; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Cell membrane; Cell projection; Cilium; Flagellum;
KW Membrane; Reference proteome.
FT CHAIN 1..1820
FT /note="Cation channel sperm-associated targeting subunit
FT tau"
FT /id="PRO_0000076174"
FT DOMAIN 87..222
FT /note="C2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00041"
FT REGION 360..383
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 403..443
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 411..443
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 388..1820
FT /note="DIPLVNEEAETTANELLDNDSEKGLTIPTLNQSDQDNSTADASKNDESTPSP
FT TEVHSLCTISNQETIKAGRIPPLGERQSESMPDRKMKNVFFPLEVKLKDNYPSILKADS
FT SLSEVAFSPKEYNSPSFRPEYIEFKPKFQFQKFNKNGFDPFLRNINKMSVRKRKDQDIY
FT KYRNILGAEVIEHEDQDPPYPAQSKTAGPANTTWAHDPNIFTTKMLETENKLAPDPTIN
FT TIKGLDTKNSLKENLPNVSLPSIKGESSRAGNVQANTCHLSKSLNFTPHIEYLKQSMIL
FT KSILSENLQDLSDKLFSKPEVSMNSEAREKSSSPLLSIHDKSSSSMEDNVLEKKQDLNN
FT WLSEKDILNSKTTLSQIIKNIPADSFSEGSQIIENIPADSLLEGGQVIKNIPEYSLSEG
FT GQIIKNIPADSFLESGPGQSPEVEEHVSKKHFEADERDFPIKKNSSTKKKHLISEVPNS
FT KSGSSGTVHDYIMRQIFTAPIFSELEIEVKEPSETPMNLENQLPTPWKRSLSSHILFHE
FT ENADEIELPQPRSATSQIIQAFPIDTLLESGIIKVIELDKEHHKSSLLGTGITSPKGNL
FT KDSQEYYSEIRSETEPLSEQSIPIIPKDTTSVSRAEFIQEDQNMFPQDSSYYSIANKEL
FT YLPRNGQRLCKDKNDLSSTLESLTNSLMDKLSESDEIMLKSFLKNIFNVFFKYNHSERR
FT GQPEKELERLIQPSFTSDTEHLEELQEDFDKADKLDRKPILSPKLRVFLEELSESEVKH
FT LKSELSKQIQHYLVERLSESGHITKEDLPKIYQNLYLMNEKAEQKGPNSFQGKYSETVK
FT EIMSFVNNFNHHFIDKHLEIKLRSFLKEILQNYFLKNISESSLFNETASETIYPNISSL
FT RTKSVSISFHELEQDISKGSFGRRFEINMKYPLSKSLQNYLIALSENELLHLKADLSKH
FT LQSLFIEKLSKSGLMTKKQLEGINQHINLLNSSSIPLKYIKTHLPFRDDCHFVEKHSEK
FT QNKYSRIVQQTTLQTVSEDKLREAELIREKEKKYFPLQNLKGNSSLIKEQKSYYTKEEA
FT KTPSLIKVQPSSNENIQASPLSKSSEILTDILLKKLRKEHVFTQLPQAENSVHKTEIQD
FT PYSWGGKSKITQSKAWCEKTLKMKSLDRKEHVNIYKWTVQEKPEAVLTSYPRIPNARMP
FT REDEYLNRITFPSWQSSTLTHFNTETGEKSKLEDQYCQTLKGNNNNNKKHLVTFAQYKK
FT EIQTLYIKPDEICSEKCAKFPEIQSFQYKVVEDEKNLKPHLFPELFKIEDLKPKVRKER
FT DRVAQPKKSFNKIVRILPTTLPTTRIHLKKSVPRTLLHWTARRTIHDCSDKFEDLHDMT
FT SFTHLKKVKSRSRLLGKSSDDIHNHARHSARPYTAPEVNKQRESYSGKFTSRRMVSSGL
FT VHINDKTSDYEMHKMRPKKIKRGY -> GGFFTKRI (in isoform 3)"
FT /id="VSP_061598"
FT VAR_SEQ 504..550
FT /note="AFSPKEYNSPSFRPEYIEFKPKFQFQKFNKNGFDPFLRNINKMSVRK -> N
FT LRSICINPKSRNLDSSPTEISWQNNNLNLAERENTGLVSTRLKIKR (in isoform
FT 4)"
FT /id="VSP_061599"
FT VAR_SEQ 528..623
FT /note="FQKFNKNGFDPFLRNINKMSVRKRKDQDIYKYRNILGAEVIEHEDQDPPYPA
FT QSKTAGPANTTWAHDPNIFTTKMLETENKLAPDPTINTIKGLDT -> DCSDKFEDLHD
FT MTSFTHLKKVKSRSRLLGKSSDDIHNHARHSARPYTAPEVNKQRESYSGKFTSRRMVSS
FT GLVHINDKTSDYEMHKMRPKKIKRGY (in isoform 2)"
FT /id="VSP_061600"
FT VAR_SEQ 551..1820
FT /note="Missing (in isoform 4)"
FT /id="VSP_061601"
FT VAR_SEQ 624..1820
FT /note="Missing (in isoform 2)"
FT /id="VSP_061602"
FT VARIANT 123
FT /note="K -> M (in a colorectal cancer sample; somatic
FT mutation)"
FT /evidence="ECO:0000269|PubMed:16959974"
FT /id="VAR_035787"
FT VARIANT 376
FT /note="H -> Q (in dbSNP:rs10804117)"
FT /evidence="ECO:0000269|PubMed:14702039,
FT ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:17974005"
FT /id="VAR_024769"
FT CONFLICT 698
FT /note="M -> T (in Ref. 2; BX648732)"
FT /evidence="ECO:0000305"
FT CONFLICT 1039
FT /note="C -> G (in Ref. 2; BX648732)"
FT /evidence="ECO:0000305"
FT CONFLICT 1559
FT /note="M -> I (in Ref. 2; BX648732)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 1820 AA; 209056 MW; D564B528D1600F3D CRC64;
MEPPQETNRP FSTLDNRSGQ VQVLSATPLL QRNPYSSPDI MHIKGSEASS VPYALNQGTT
ALPKNKNQEG TGHRLLNMLR KTLKESDSEE LEITQETPNL VPFGDVVGCL GIHIKNCRHF
MPKISLQHYA NLFIRISINK AVKCTKMCSL LSKNDEKNTV IKFDEVKYFS VQVPRRYDDK
RNNILLELIQ YDNREKRAFL LGSVQIHLYE VIQKGCFIEE VQVLHGNIFV CRLEVEFMFS
YGNFGYGFSH QLKPLQKITE PSMFMNLAPP PERTDPVTKV ITPQTVEYPA FLSPDLNVTV
GTPAVQSSNQ PSVVRLEKLQ QQPRERLEKM KKEYRNLNTW IDKANYLESI LMPKLEHKDS
EETNIDEASE NTKSNHPEEE LENIVGVDIP LVNEEAETTA NELLDNDSEK GLTIPTLNQS
DQDNSTADAS KNDESTPSPT EVHSLCTISN QETIKAGRIP PLGERQSESM PDRKMKNVFF
PLEVKLKDNY PSILKADSSL SEVAFSPKEY NSPSFRPEYI EFKPKFQFQK FNKNGFDPFL
RNINKMSVRK RKDQDIYKYR NILGAEVIEH EDQDPPYPAQ SKTAGPANTT WAHDPNIFTT
KMLETENKLA PDPTINTIKG LDTKNSLKEN LPNVSLPSIK GESSRAGNVQ ANTCHLSKSL
NFTPHIEYLK QSMILKSILS ENLQDLSDKL FSKPEVSMNS EAREKSSSPL LSIHDKSSSS
MEDNVLEKKQ DLNNWLSEKD ILNSKTTLSQ IIKNIPADSF SEGSQIIENI PADSLLEGGQ
VIKNIPEYSL SEGGQIIKNI PADSFLESGP GQSPEVEEHV SKKHFEADER DFPIKKNSST
KKKHLISEVP NSKSGSSGTV HDYIMRQIFT APIFSELEIE VKEPSETPMN LENQLPTPWK
RSLSSHILFH EENADEIELP QPRSATSQII QAFPIDTLLE SGIIKVIELD KEHHKSSLLG
TGITSPKGNL KDSQEYYSEI RSETEPLSEQ SIPIIPKDTT SVSRAEFIQE DQNMFPQDSS
YYSIANKELY LPRNGQRLCK DKNDLSSTLE SLTNSLMDKL SESDEIMLKS FLKNIFNVFF
KYNHSERRGQ PEKELERLIQ PSFTSDTEHL EELQEDFDKA DKLDRKPILS PKLRVFLEEL
SESEVKHLKS ELSKQIQHYL VERLSESGHI TKEDLPKIYQ NLYLMNEKAE QKGPNSFQGK
YSETVKEIMS FVNNFNHHFI DKHLEIKLRS FLKEILQNYF LKNISESSLF NETASETIYP
NISSLRTKSV SISFHELEQD ISKGSFGRRF EINMKYPLSK SLQNYLIALS ENELLHLKAD
LSKHLQSLFI EKLSKSGLMT KKQLEGINQH INLLNSSSIP LKYIKTHLPF RDDCHFVEKH
SEKQNKYSRI VQQTTLQTVS EDKLREAELI REKEKKYFPL QNLKGNSSLI KEQKSYYTKE
EAKTPSLIKV QPSSNENIQA SPLSKSSEIL TDILLKKLRK EHVFTQLPQA ENSVHKTEIQ
DPYSWGGKSK ITQSKAWCEK TLKMKSLDRK EHVNIYKWTV QEKPEAVLTS YPRIPNARMP
REDEYLNRIT FPSWQSSTLT HFNTETGEKS KLEDQYCQTL KGNNNNNKKH LVTFAQYKKE
IQTLYIKPDE ICSEKCAKFP EIQSFQYKVV EDEKNLKPHL FPELFKIEDL KPKVRKERDR
VAQPKKSFNK IVRILPTTLP TTRIHLKKSV PRTLLHWTAR RTIHDCSDKF EDLHDMTSFT
HLKKVKSRSR LLGKSSDDIH NHARHSARPY TAPEVNKQRE SYSGKFTSRR MVSSGLVHIN
DKTSDYEMHK MRPKKIKRGY
