TEX15_HUMAN
ID TEX15_HUMAN Reviewed; 2789 AA.
AC Q9BXT5;
DT 27-JUN-2006, integrated into UniProtKB/Swiss-Prot.
DT 05-OCT-2010, sequence version 2.
DT 03-AUG-2022, entry version 123.
DE RecName: Full=Testis-expressed protein 15;
DE AltName: Full=Cancer/testis antigen 42;
DE Short=CT42;
GN Name=TEX15;
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], TISSUE SPECIFICITY, AND VARIANTS ARG-104;
RP VAL-1035; SER-1311; VAL-1337 AND ARG-1439.
RC TISSUE=Testis;
RX PubMed=11279525; DOI=10.1038/86927;
RA Wang P.J., McCarrey J.R., Yang F., Page D.C.;
RT "An abundance of X-linked genes expressed in spermatogonia.";
RL Nat. Genet. 27:422-426(2001).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16421571; DOI=10.1038/nature04406;
RA Nusbaum C., Mikkelsen T.S., Zody M.C., Asakawa S., Taudien S., Garber M.,
RA Kodira C.D., Schueler M.G., Shimizu A., Whittaker C.A., Chang J.L.,
RA Cuomo C.A., Dewar K., FitzGerald M.G., Yang X., Allen N.R., Anderson S.,
RA Asakawa T., Blechschmidt K., Bloom T., Borowsky M.L., Butler J., Cook A.,
RA Corum B., DeArellano K., DeCaprio D., Dooley K.T., Dorris L. III,
RA Engels R., Gloeckner G., Hafez N., Hagopian D.S., Hall J.L., Ishikawa S.K.,
RA Jaffe D.B., Kamat A., Kudoh J., Lehmann R., Lokitsang T., Macdonald P.,
RA Major J.E., Matthews C.D., Mauceli E., Menzel U., Mihalev A.H.,
RA Minoshima S., Murayama Y., Naylor J.W., Nicol R., Nguyen C., O'Leary S.B.,
RA O'Neill K., Parker S.C.J., Polley A., Raymond C.K., Reichwald K.,
RA Rodriguez J., Sasaki T., Schilhabel M., Siddiqui R., Smith C.L.,
RA Sneddon T.P., Talamas J.A., Tenzin P., Topham K., Venkataraman V., Wen G.,
RA Yamazaki S., Young S.K., Zeng Q., Zimmer A.R., Rosenthal A., Birren B.W.,
RA Platzer M., Shimizu N., Lander E.S.;
RT "DNA sequence and analysis of human chromosome 8.";
RL Nature 439:331-335(2006).
RN [3]
RP TISSUE SPECIFICITY, AND IDENTIFICATION AS A CANCER/TESTIS ANTIGEN.
RX PubMed=12704671; DOI=10.1002/ijc.11104;
RA Loriot A., Boon T., De Smet C.;
RT "Five new human cancer-germline genes identified among 12 genes expressed
RT in spermatogonia.";
RL Int. J. Cancer 105:371-376(2003).
RN [4]
RP INVOLVEMENT IN SPGF25, VARIANT SPGF25 710-TYR--HIS-2789 DEL, AND TISSUE
RP SPECIFICITY.
RX PubMed=26199321; DOI=10.1093/hmg/ddv290;
RA Okutman O., Muller J., Baert Y., Serdarogullari M., Gultomruk M., Piton A.,
RA Rombaut C., Benkhalifa M., Teletin M., Skory V., Bakircioglu E.,
RA Goossens E., Bahceci M., Viville S.;
RT "Exome sequencing reveals a nonsense mutation in TEX15 causing
RT spermatogenic failure in a Turkish family.";
RL Hum. Mol. Genet. 24:5581-5588(2015).
RN [5]
RP INVOLVEMENT IN SPGF25, AND VARIANT SPGF25 807-LYS--HIS-2789 DEL.
RX PubMed=28355598; DOI=10.1159/000468934;
RA Colombo R., Pontoglio A., Bini M.;
RT "Two novel TEX15 mutations in a family with nonobstructive azoospermia.";
RL Gynecol. Obstet. Invest. 82:283-286(2017).
RN [6]
RP INVOLVEMENT IN SPGF25, AND VARIANT SPGF25 2312-ARG--HIS-2789 DEL.
RX PubMed=28303806; DOI=10.4103/1008-682x.194998;
RA Wang X., Jin H.R., Cui Y.Q., Chen J., Sha Y.W., Gao Z.L.;
RT "Case study of a patient with cryptozoospermia associated with a recessive
RT TEX15 nonsense mutation.";
RL Asian J. Androl. 20:101-102(2018).
CC -!- FUNCTION: Required during spermatogenesis for normal chromosome
CC synapsis and meiotic recombination in germ cells. Necessary for
CC formation of DMC1 and RAD51 foci on meiotic chromosomes, suggesting a
CC specific role in DNA double-stranded break repair (By similarity).
CC Essential executor of PIWIL4-piRNA pathway directed transposon DNA
CC methylation and silencing in the male embryonic germ cells (By
CC similarity). PIWIL4-piRNA binds to nascent transposon transcripts and
CC interacts with TEX15, which may in turn recruit the epigenetic
CC silencing machinery to the transposon loci (By similarity). Not
CC required for piRNA biosynthesis (By similarity).
CC {ECO:0000250|UniProtKB:F8VPN2}.
CC -!- SUBUNIT: Interacts with PIWIL4 and PIWIL2.
CC {ECO:0000250|UniProtKB:F8VPN2}.
CC -!- SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:F8VPN2}. Nucleus
CC {ECO:0000250|UniProtKB:F8VPN2}.
CC -!- TISSUE SPECIFICITY: Expressed in testis, predominantly in germ cells
CC (PubMed:11279525, PubMed:26199321). Low expression, if any, in ovary
CC (PubMed:11279525, PubMed:26199321). Also expressed in several cancers
CC (PubMed:12704671). {ECO:0000269|PubMed:11279525,
CC ECO:0000269|PubMed:12704671, ECO:0000269|PubMed:26199321}.
CC -!- DISEASE: Spermatogenic failure 25 (SPGF25) [MIM:617960]: An autosomal
CC recessive infertility disorder caused by spermatogenesis defects that
CC result in severe oligozoospermia or azoospermia.
CC {ECO:0000269|PubMed:26199321, ECO:0000269|PubMed:28303806,
CC ECO:0000269|PubMed:28355598}. Note=The disease is caused by variants
CC affecting the gene represented in this entry.
CC -!- SIMILARITY: Belongs to the TEX15 family. {ECO:0000305}.
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DR EMBL; AF285605; AAK31984.1; -; mRNA.
DR EMBL; AC009314; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC090281; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR RefSeq; NP_112561.2; NM_031271.3.
DR BioGRID; 121088; 17.
DR IntAct; Q9BXT5; 8.
DR MINT; Q9BXT5; -.
DR STRING; 9606.ENSP00000256246; -.
DR CarbonylDB; Q9BXT5; -.
DR iPTMnet; Q9BXT5; -.
DR PhosphoSitePlus; Q9BXT5; -.
DR BioMuta; TEX15; -.
DR DMDM; 308153507; -.
DR EPD; Q9BXT5; -.
DR jPOST; Q9BXT5; -.
DR MassIVE; Q9BXT5; -.
DR MaxQB; Q9BXT5; -.
DR PaxDb; Q9BXT5; -.
DR PeptideAtlas; Q9BXT5; -.
DR PRIDE; Q9BXT5; -.
DR ProteomicsDB; 79507; -.
DR Antibodypedia; 51904; 18 antibodies from 11 providers.
DR Ensembl; ENST00000256246.5; ENSP00000256246.2; ENSG00000133863.9.
DR UCSC; uc003xil.4; human.
DR GeneCards; TEX15; -.
DR HGNC; HGNC:11738; TEX15.
DR HPA; ENSG00000133863; Group enriched (brain, endometrium, smooth muscle, testis).
DR MalaCards; TEX15; -.
DR MIM; 605795; gene.
DR MIM; 617960; phenotype.
DR neXtProt; NX_Q9BXT5; -.
DR OpenTargets; ENSG00000133863; -.
DR Orphanet; 399805; Male infertility with azoospermia or oligozoospermia due to single gene mutation.
DR PharmGKB; PA36455; -.
DR VEuPathDB; HostDB:ENSG00000133863; -.
DR eggNOG; ENOG502QW6W; Eukaryota.
DR GeneTree; ENSGT00390000006260; -.
DR HOGENOM; CLU_000620_0_0_1; -.
DR InParanoid; Q9BXT5; -.
DR PhylomeDB; Q9BXT5; -.
DR TreeFam; TF332375; -.
DR PathwayCommons; Q9BXT5; -.
DR Reactome; R-HSA-912446; Meiotic recombination.
DR SignaLink; Q9BXT5; -.
DR BioGRID-ORCS; 56154; 10 hits in 1080 CRISPR screens.
DR ChiTaRS; TEX15; human.
DR GenomeRNAi; 56154; -.
DR Pharos; Q9BXT5; Tbio.
DR PRO; PR:Q9BXT5; -.
DR Proteomes; UP000005640; Chromosome 8.
DR RNAct; Q9BXT5; protein.
DR Bgee; ENSG00000133863; Expressed in sperm and 60 other tissues.
DR ExpressionAtlas; Q9BXT5; baseline and differential.
DR Genevisible; Q9BXT5; HS.
DR GO; GO:0005737; C:cytoplasm; ISS:UniProtKB.
DR GO; GO:0005634; C:nucleus; ISS:UniProtKB.
DR GO; GO:0030154; P:cell differentiation; IEA:UniProtKB-KW.
DR GO; GO:0006306; P:DNA methylation; ISS:UniProtKB.
DR GO; GO:0006281; P:DNA repair; IEA:UniProtKB-KW.
DR GO; GO:0031047; P:gene silencing by RNA; IEA:UniProtKB-KW.
DR GO; GO:0007140; P:male meiotic nuclear division; IBA:GO_Central.
DR GO; GO:0010529; P:negative regulation of transposition; ISS:UniProtKB.
DR GO; GO:0010569; P:regulation of double-strand break repair via homologous recombination; IBA:GO_Central.
DR GO; GO:0007283; P:spermatogenesis; IEA:UniProtKB-KW.
DR GO; GO:0007130; P:synaptonemal complex assembly; IBA:GO_Central.
DR InterPro; IPR026616; TEX15.
DR InterPro; IPR032765; TEX15_dom.
DR PANTHER; PTHR22380; PTHR22380; 1.
DR Pfam; PF15326; TEX15; 2.
PE 1: Evidence at protein level;
KW Cytoplasm; Differentiation; Disease variant; DNA damage; DNA repair;
KW Meiosis; Nucleus; Reference proteome; RNA-mediated gene silencing;
KW Spermatogenesis.
FT CHAIN 1..2789
FT /note="Testis-expressed protein 15"
FT /id="PRO_0000244483"
FT REGION 34..99
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 169..191
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1063..1166
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 2303..2331
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 2351..2379
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 34..48
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 60..99
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1063..1079
FT /note="Basic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1080..1103
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1104..1166
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 2364..2379
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VARIANT 104
FT /note="C -> R (in dbSNP:rs323347)"
FT /evidence="ECO:0000269|PubMed:11279525"
FT /id="VAR_060394"
FT VARIANT 383
FT /note="P -> L (in dbSNP:rs9297162)"
FT /id="VAR_060395"
FT VARIANT 710..2789
FT /note="Missing (in SPGF25; dbSNP:rs864309485)"
FT /evidence="ECO:0000269|PubMed:26199321"
FT /id="VAR_080904"
FT VARIANT 807..2789
FT /note="Missing (in SPGF25)"
FT /evidence="ECO:0000269|PubMed:28355598"
FT /id="VAR_080905"
FT VARIANT 1035
FT /note="I -> V (in dbSNP:rs323346)"
FT /evidence="ECO:0000269|PubMed:11279525"
FT /id="VAR_060396"
FT VARIANT 1311
FT /note="N -> S (in dbSNP:rs323345)"
FT /evidence="ECO:0000269|PubMed:11279525"
FT /id="VAR_060397"
FT VARIANT 1337
FT /note="L -> V (in dbSNP:rs323344)"
FT /evidence="ECO:0000269|PubMed:11279525"
FT /id="VAR_060398"
FT VARIANT 1439
FT /note="K -> R (in dbSNP:rs323343)"
FT /evidence="ECO:0000269|PubMed:11279525"
FT /id="VAR_060399"
FT VARIANT 2138
FT /note="D -> N (in dbSNP:rs60474250)"
FT /id="VAR_061711"
FT VARIANT 2312..2789
FT /note="Missing (in SPGF25; unknown pathological
FT significance; dbSNP:rs763654373)"
FT /evidence="ECO:0000269|PubMed:28303806"
FT /id="VAR_080906"
SQ SEQUENCE 2789 AA; 315336 MW; 1065EDD045C67BF6 CRC64;
MPSDAKDSVN GDLLLNWTSL KNILSGLNAS FPLHNNTGSS TVTTSKSIKD PRLMRREESM
GEQSSTAGLN EVLQFEKSSD NVNSEIKSTP SNSASSSEVV PGDCAVLTNG LDTPCFKTSV
NDSQSWAHNM GSEDYDCIPP NKVTMAGQCK DQGNFSFPIS VSNVVSEVEN QNHSEEKAQR
AQQESGNAYT KEYSSHIFQD SQSSDLKTIY QTGCQTSTVF PLKKKVSIDE YLQNTGKMKN
FADLEDSSKH EEKQTSWKEI DNDFTNETKI SPIDNYIVLH QEYKESESHN SFGKSCDKIL
ITQELEITKS STSTIKDKDE LDHLALEWQI TPSFESLSQK HPQHSVEYEG NIHTSLAIAQ
KLMELKLGKI NQNYASIITE AFPKPKDIPQ AKEMFIDTVI SSYNIETAHD SSNCSITREH
ICVHRKNENE PVSLENIQRD YKETAYVEDR GQDHNLFCNS QLSNDIWLNV NFKKQTDREN
QNEAKENSAS CVENNIENIY GDKKQDSHTN ENFSNIDEKE DKNYHNIEIL SSEEFSTKFN
LICREDNAVS AATALLESEE DTISAVKQKD TENTGRSVEH LASTTFPKTA SSSVCVASNA
AIQIASATMP ALSLNNDDHQ IYQFKETCSS ESPDFGLLVK HRVSDCEIDT DKNKSQESFH
QSINENLVLQ SIELESEIEI ELEDCDDAFI FQQDTHSHEN MLCEEFVTSY KALKSRISWE
GLLALDNGEM EVLESTTGRE NSDQHYSKES NYFYSSTQNN ETELTSPILL PDLQIKITNI
FRPGFSPTAD SLALKDSFCT HVTEATKPEI NKEDGEILGF DIYSQPFGEN ADYPCEDKVD
NIRQESGPVS NSEISLSFDL SRNTDVNHTS ENQNSESLFT EPSNVTTIDD GSRCFFTKSK
TDYNDTKNKK EVESRISKRK LHISSRDQNI PHKDLRRHKI YGRKRRLTSQ DSSECFSSLS
QGRIKTFSQS EKHIKSVLNI LSDEASLCKS KCLSRKLDKA VVHLKKAHRR VHTSLQLITK
VGEERKGPLP KSYAIICNNF WESCDLQGYS SVSQRKYYST KHFSSKRKYD KRRKKRAPKA
DISKSLTHVS KHKSYKTSGE KKCLSRKSMA SSVSKSHPTT SHMGEFCNQE HPESQLPVSS
TSQSTSQSVY YNSSVSNPSL SEEHQPFSGK TAYLFSPDHS DEKLIEKENQ IDTAFLSSTS
KYEKLEKHSA NHNVKDATKE NSCDANEVIN ESNSVSLSCI KENINSSTGN DCDATCIGHT
KAKTDVLISV LDSNVKHFLN DLYQQGNLIL SDCKRNLEVK WTDPIERPKQ NIITGNFLMG
PLNLTLIASK KYSIPQLSAA AVTDSEGESS KSYLDKQRIL TVDSFAASST VPHCEQSCRE
KELLKTEQCS SGNCLHTDGN ETNVTENYEL DVASGTEEDK SYGENIVELS SSDSSLLLKD
NVKGSSSETC IVKKDTEDRI TWKVKQAEKA KDSVYKRSMT EGSTVNTEYK NQKNQISEES
CLNEKIITTN LIDSHLSTKN TTTESVPLKN TVSNPLNKRE KKGEIKVSKD SQSDLTLHSE
IAYISKPGIL GVNHTPILPA HSETCKVPTL LKKPASYVSD FKEKHCSANH TALIANLSQI
LQRADEASSL QILQEETKVC LNILPLFVEA FERKQECSVE QILISRELLV DQNLWNNCKH
TLKPCAVDTL VELQMMMETI QFIENKKRHL EGEPTLRSLL WYDETLYAEL LGKPRGFQQQ
SNFYPGFQGR LKYNAFCELQ TYHDQLVELL EETKREKNSY YVFLKYKRQV NECEAIMEHC
SDCFDFSLSV PFTCGVNFGD SLEDLEILRK STLKLINVCG DSPKVHSYPG KQDHLWIIIE
MISSKVNFIK NNEAVRVKIS LYGLEHIFFD AAKNLVWKER TQSFSKKYSQ KKDEERLLRV
NKCAFSKLQK IYDTLSKDLN NEPISPIGLE EDTIIASRKS DHPINEATIS IENSKFNSNL
LAHPDICCIS EILDQAEFAD LKKLQDLTLR CTDHLEILKK YFQMLQDNNM DNIFITEENV
LDVVINHSHE AIILKPEAIE MYIEIVMVSE TIHFLKNSIA KKLDKQRFRG MLWFDLSLLP
ELVQCQEKMA SFSFLKDNST DVCLWKVIET AVSELKKDLD IICKYNEAVN CSYAIHLLSR
ELQELSEIKK LLKKSKYFIS TYIDFVPYIA SINYGSTVTE LEYNYNQFST LLKNVMSAPR
KDLGKMAHIR KVMKTIEHMK MICTKNAELT ISFFLCQMLY NRRKILQLKR KEKMNIHIVK
PGENNNKFSI STMLPPVSEC INKNISNSSK KRPSTVDKCE DSQEQQQDTT VSSCKKLKVD
MKDVTKINRE KATFKHPRTT GSHPKSENKI VPSSCDSLKR NHLTPKKVEM QRSLPGSLLP
LENPKDTCAS KSESKIDLTV SSDHFSGQQE NLNSMKKRNV NFSAAETKSD KKDCAAFAIC
DQKSVHGTFS PDHGTLLQKF LKNSPDPTQK SCLSDINPET DVSLVPDASV LSKPIFCFVK
DVHPDLEMND TVFELQDNDI VNSSIKNSSC MTSPEPICIQ NKIPTLQINK LQPTETESED
KYMKDTLNPN TVHTFGASGH ITLNVNQGAE YSLSEQQNDK NSKVLMQNAA TYWNELPQSA
CNPTYNSSEH LFGTSYPYSA WCVYQYSNSN GNAITQTYQG ITSYEVQPSP SGLLTTVAST
AQGTHSNLLY SQYFTYFAGE PQANGFVPVN GYFQSQIPAS NFRQPIFSQY ASHQPLPQAT
YPYLPNRFVP PEVPWVYAPW HQESFHPGH
