SPAT7_HUMAN
ID SPAT7_HUMAN Reviewed; 599 AA.
AC Q9P0W8; Q5BKY5; Q8WX30; Q96HF3; Q9H0X0; Q9P0W7;
DT 26-SEP-2003, integrated into UniProtKB/Swiss-Prot.
DT 26-SEP-2003, sequence version 3.
DT 03-AUG-2022, entry version 154.
DE RecName: Full=Spermatogenesis-associated protein 7;
DE AltName: Full=HSD-3.1;
DE AltName: Full=Spermatogenesis-associated protein HSD3;
GN Name=SPATA7; Synonyms=HSD3;
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), NUCLEOTIDE SEQUENCE [MRNA] OF
RP 41-599 (ISOFORM 3), GENE ORGANIZATION, AND VARIANT MET-74.
RC TISSUE=Testis;
RX PubMed=12736779; DOI=10.1007/s00109-003-0434-y;
RA Zhang X., Liu H., Zhang Y., Qiao Y., Miao S.Y., Wang L., Zhang J., Zong S.,
RA Koide S.S.;
RT "A novel gene, RSD-3/HSD-3.1, encodes a meiotic-related protein expressed
RT in rat and human testis.";
RL J. Mol. Med. 81:380-387(2003).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), AND VARIANT MET-74.
RC TISSUE=Fetal brain;
RX PubMed=11230166; DOI=10.1101/gr.gr1547r;
RA Wiemann S., Weil B., Wellenreuther R., Gassenhuber J., Glassl S.,
RA Ansorge W., Boecher M., Bloecker H., Bauersachs S., Blum H., Lauber J.,
RA Duesterhoeft A., Beyer A., Koehrer K., Strack N., Mewes H.-W.,
RA Ottenwaelder B., Obermaier B., Tampe J., Heubner D., Wambutt R., Korn B.,
RA Klein M., Poustka A.;
RT "Towards a catalog of human genes and proteins: sequencing and analysis of
RT 500 novel complete protein coding human cDNAs.";
RL Genome Res. 11:422-435(2001).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=12508121; DOI=10.1038/nature01348;
RA Heilig R., Eckenberg R., Petit J.-L., Fonknechten N., Da Silva C.,
RA Cattolico L., Levy M., Barbe V., De Berardinis V., Ureta-Vidal A.,
RA Pelletier E., Vico V., Anthouard V., Rowen L., Madan A., Qin S., Sun H.,
RA Du H., Pepin K., Artiguenave F., Robert C., Cruaud C., Bruels T.,
RA Jaillon O., Friedlander L., Samson G., Brottier P., Cure S., Segurens B.,
RA Aniere F., Samain S., Crespeau H., Abbasi N., Aiach N., Boscus D.,
RA Dickhoff R., Dors M., Dubois I., Friedman C., Gouyvenoux M., James R.,
RA Madan A., Mairey-Estrada B., Mangenot S., Martins N., Menard M., Oztas S.,
RA Ratcliffe A., Shaffer T., Trask B., Vacherie B., Bellemere C., Belser C.,
RA Besnard-Gonnet M., Bartol-Mavel D., Boutard M., Briez-Silla S.,
RA Combette S., Dufosse-Laurent V., Ferron C., Lechaplais C., Louesse C.,
RA Muselet D., Magdelenat G., Pateau E., Petit E., Sirvain-Trukniewicz P.,
RA Trybou A., Vega-Czarny N., Bataille E., Bluet E., Bordelais I., Dubois M.,
RA Dumont C., Guerin T., Haffray S., Hammadi R., Muanga J., Pellouin V.,
RA Robert D., Wunderle E., Gauguet G., Roy A., Sainte-Marthe L., Verdier J.,
RA Verdier-Discala C., Hillier L.W., Fulton L., McPherson J., Matsuda F.,
RA Wilson R., Scarpelli C., Gyapay G., Wincker P., Saurin W., Quetier F.,
RA Waterston R., Hood L., Weissenbach J.;
RT "The DNA sequence and analysis of human chromosome 14.";
RL Nature 421:601-607(2003).
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 (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), AND NUCLEOTIDE SEQUENCE
RP [LARGE SCALE MRNA] OF 132-599 (ISOFORMS 1/2).
RC TISSUE=Colon, and 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 [6]
RP INVOLVEMENT IN LCA3 AND ARRP.
RX PubMed=19268277; DOI=10.1016/j.ajhg.2009.02.005;
RA Wang H., den Hollander A.I., Moayedi Y., Abulimiti A., Li Y.,
RA Collin R.W.J., Hoyng C.B., Lopez I., Bray M., Lewis R.A., Lupski J.R.,
RA Mardon G., Koenekoop R.K., Chen R.;
RT "Mutations in SPATA7 cause Leber congenital amaurosis and juvenile
RT retinitis pigmentosa.";
RL Am. J. Hum. Genet. 84:380-387(2009).
RN [7]
RP INTERACTION WITH RPGRIP1, AND SUBCELLULAR LOCATION.
RX PubMed=25398945; DOI=10.1093/hmg/ddu573;
RA Eblimit A., Nguyen T.M., Chen Y., Esteve-Rudd J., Zhong H., Letteboer S.,
RA van Reeuwijk J., Simons D.L., Ding Q., Wu K.M., Li Y., van Beersum S.,
RA Moayedi Y., Xu H., Pickard P., Wang K., Gan L., Wu S.M., Williams D.S.,
RA Mardon G., Roepman R., Chen R.;
RT "Spata7 is a retinal ciliopathy gene critical for correct RPGRIP1
RT localization and protein trafficking in the retina.";
RL Hum. Mol. Genet. 24:1584-1601(2015).
RN [8]
RP IDENTIFICATION BY MASS SPECTROMETRY, AND IDENTIFICATION IN A COMPLEX WITH
RP CFAP410; NEK1 AND SPATA7.
RX PubMed=26167768; DOI=10.1038/ncb3201;
RG UK10K Consortium;
RG University of Washington Center for Mendelian Genomics;
RA Wheway G., Schmidts M., Mans D.A., Szymanska K., Nguyen T.M., Racher H.,
RA Phelps I.G., Toedt G., Kennedy J., Wunderlich K.A., Sorusch N.,
RA Abdelhamed Z.A., Natarajan S., Herridge W., van Reeuwijk J., Horn N.,
RA Boldt K., Parry D.A., Letteboer S.J., Roosing S., Adams M., Bell S.M.,
RA Bond J., Higgins J., Morrison E.E., Tomlinson D.C., Slaats G.G.,
RA van Dam T.J., Huang L., Kessler K., Giessl A., Logan C.V., Boyle E.A.,
RA Shendure J., Anazi S., Aldahmesh M., Al Hazzaa S., Hegele R.A., Ober C.,
RA Frosk P., Mhanni A.A., Chodirker B.N., Chudley A.E., Lamont R.,
RA Bernier F.P., Beaulieu C.L., Gordon P., Pon R.T., Donahue C.,
RA Barkovich A.J., Wolf L., Toomes C., Thiel C.T., Boycott K.M., McKibbin M.,
RA Inglehearn C.F., Stewart F., Omran H., Huynen M.A., Sergouniotis P.I.,
RA Alkuraya F.S., Parboosingh J.S., Innes A.M., Willoughby C.E., Giles R.H.,
RA Webster A.R., Ueffing M., Blacque O., Gleeson J.G., Wolfrum U.,
RA Beales P.L., Gibson T., Doherty D., Mitchison H.M., Roepman R.,
RA Johnson C.A.;
RT "An siRNA-based functional genomics screen for the identification of
RT regulators of ciliogenesis and ciliopathy genes.";
RL Nat. Cell Biol. 17:1074-1087(2015).
RN [9]
RP VARIANT THR-332.
RX PubMed=21602930; DOI=10.1371/journal.pone.0019458;
RA Li L., Xiao X., Li S., Jia X., Wang P., Guo X., Jiao X., Zhang Q.,
RA Hejtmancik J.F.;
RT "Detection of variants in 15 genes in 87 unrelated Chinese patients with
RT Leber congenital amaurosis.";
RL PLoS ONE 6:E19458-E19458(2011).
CC -!- FUNCTION: Involved in the maintenance of both rod and cone
CC photoreceptor cells (By similarity). It is required for recruitment and
CC proper localization of RPGRIP1 to the photoreceptor connecting cilium
CC (CC), as well as photoreceptor-specific localization of proximal CC
CC proteins at the distal CC (By similarity). Maintenance of protein
CC localization at the photoreceptor-specific distal CC is essential for
CC normal microtubule stability and to prevent photoreceptor degeneration
CC (By similarity). {ECO:0000250|UniProtKB:Q80VP2}.
CC -!- SUBUNIT: Found in a complex with CFAP410, NEK1 and SPATA7
CC (PubMed:26167768). Interacts with NEK1 (PubMed:26167768). Interacts
CC with RPGRIP1 (PubMed:25398945). Interacts with RPGR (By similarity).
CC Interacts with NPHP4 (By similarity). Interacts with NPHP1 (By
CC similarity). Interacts with AHI1 (By similarity).
CC {ECO:0000250|UniProtKB:Q80VP2, ECO:0000269|PubMed:25398945,
CC ECO:0000269|PubMed:26167768}.
CC -!- SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, cilium axoneme
CC {ECO:0000269|PubMed:25398945}. Cytoplasm, cytoskeleton, cilium basal
CC body {ECO:0000269|PubMed:25398945}. Cytoplasm, cytoskeleton
CC {ECO:0000269|PubMed:25398945}. Cell projection, cilium, photoreceptor
CC outer segment {ECO:0000250|UniProtKB:Q80VP2}. Note=Localizes to the
CC microtubule network. {ECO:0000269|PubMed:25398945}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q9P0W8-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q9P0W8-2; Sequence=VSP_008341;
CC Name=3;
CC IsoId=Q9P0W8-3; Sequence=VSP_008342;
CC -!- DISEASE: Leber congenital amaurosis 3 (LCA3) [MIM:604232]: A severe
CC dystrophy of the retina, typically becoming evident in the first years
CC of life. Visual function is usually poor and often accompanied by
CC nystagmus, sluggish or near-absent pupillary responses, photophobia,
CC high hyperopia and keratoconus. {ECO:0000269|PubMed:19268277}. Note=The
CC disease is caused by variants affecting the gene represented in this
CC entry.
CC -!- DISEASE: Retinitis pigmentosa autosomal recessive (ARRP) [MIM:268000]:
CC A retinal dystrophy belonging to the group of pigmentary retinopathies.
CC Retinitis pigmentosa is characterized by retinal pigment deposits
CC visible on fundus examination and primary loss of rod photoreceptor
CC cells followed by secondary loss of cone photoreceptors. Patients
CC typically have night vision blindness and loss of midperipheral visual
CC field. As their condition progresses, they lose their far peripheral
CC visual field and eventually central vision as well.
CC {ECO:0000269|PubMed:19268277}. Note=The disease is caused by variants
CC affecting the gene represented in this entry.
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DR EMBL; AF144487; AAF66077.2; -; mRNA.
DR EMBL; AF144488; AAF66078.1; -; mRNA.
DR EMBL; AL136604; CAB66539.1; -; mRNA.
DR EMBL; AL049834; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL353786; CAD18999.1; -; Genomic_DNA.
DR EMBL; CH471061; EAW81380.1; -; Genomic_DNA.
DR EMBL; BC008656; AAH08656.2; -; mRNA.
DR EMBL; BC090875; AAH90875.1; -; mRNA.
DR CCDS; CCDS32132.1; -. [Q9P0W8-2]
DR CCDS; CCDS9883.1; -. [Q9P0W8-1]
DR RefSeq; NP_001035518.1; NM_001040428.3. [Q9P0W8-2]
DR RefSeq; NP_060888.2; NM_018418.4. [Q9P0W8-1]
DR AlphaFoldDB; Q9P0W8; -.
DR BioGRID; 120922; 21.
DR CORUM; Q9P0W8; -.
DR IntAct; Q9P0W8; 16.
DR MINT; Q9P0W8; -.
DR STRING; 9606.ENSP00000377176; -.
DR iPTMnet; Q9P0W8; -.
DR PhosphoSitePlus; Q9P0W8; -.
DR BioMuta; SPATA7; -.
DR DMDM; 37089915; -.
DR EPD; Q9P0W8; -.
DR MassIVE; Q9P0W8; -.
DR MaxQB; Q9P0W8; -.
DR PaxDb; Q9P0W8; -.
DR PeptideAtlas; Q9P0W8; -.
DR PRIDE; Q9P0W8; -.
DR ProteomicsDB; 83619; -. [Q9P0W8-1]
DR ProteomicsDB; 83620; -. [Q9P0W8-2]
DR ProteomicsDB; 83621; -. [Q9P0W8-3]
DR Antibodypedia; 26287; 151 antibodies from 26 providers.
DR DNASU; 55812; -.
DR Ensembl; ENST00000045347.11; ENSP00000045347.7; ENSG00000042317.17. [Q9P0W8-3]
DR Ensembl; ENST00000356583.9; ENSP00000348991.5; ENSG00000042317.17. [Q9P0W8-2]
DR Ensembl; ENST00000393545.9; ENSP00000377176.4; ENSG00000042317.17. [Q9P0W8-1]
DR Ensembl; ENST00000556553.5; ENSP00000451128.1; ENSG00000042317.17. [Q9P0W8-2]
DR GeneID; 55812; -.
DR KEGG; hsa:55812; -.
DR MANE-Select; ENST00000393545.9; ENSP00000377176.4; NM_018418.5; NP_060888.2.
DR UCSC; uc001xwr.5; human. [Q9P0W8-1]
DR CTD; 55812; -.
DR DisGeNET; 55812; -.
DR GeneCards; SPATA7; -.
DR GeneReviews; SPATA7; -.
DR HGNC; HGNC:20423; SPATA7.
DR HPA; ENSG00000042317; Tissue enhanced (testis).
DR MalaCards; SPATA7; -.
DR MIM; 268000; phenotype.
DR MIM; 604232; phenotype.
DR MIM; 609868; gene.
DR neXtProt; NX_Q9P0W8; -.
DR OpenTargets; ENSG00000042317; -.
DR Orphanet; 65; Leber congenital amaurosis.
DR Orphanet; 791; Retinitis pigmentosa.
DR Orphanet; 364055; Severe early-childhood-onset retinal dystrophy.
DR PharmGKB; PA134907300; -.
DR VEuPathDB; HostDB:ENSG00000042317; -.
DR eggNOG; ENOG502QSVU; Eukaryota.
DR GeneTree; ENSGT00390000014113; -.
DR HOGENOM; CLU_028379_0_0_1; -.
DR InParanoid; Q9P0W8; -.
DR OMA; NTKQASN; -.
DR OrthoDB; 1379215at2759; -.
DR PhylomeDB; Q9P0W8; -.
DR TreeFam; TF330591; -.
DR PathwayCommons; Q9P0W8; -.
DR SignaLink; Q9P0W8; -.
DR BioGRID-ORCS; 55812; 12 hits in 1079 CRISPR screens.
DR ChiTaRS; SPATA7; human.
DR GeneWiki; SPATA7; -.
DR GenomeRNAi; 55812; -.
DR Pharos; Q9P0W8; Tbio.
DR PRO; PR:Q9P0W8; -.
DR Proteomes; UP000005640; Chromosome 14.
DR RNAct; Q9P0W8; protein.
DR Bgee; ENSG00000042317; Expressed in right testis and 185 other tissues.
DR ExpressionAtlas; Q9P0W8; baseline and differential.
DR Genevisible; Q9P0W8; HS.
DR GO; GO:0005930; C:axoneme; IDA:UniProtKB.
DR GO; GO:0036064; C:ciliary basal body; IDA:UniProtKB.
DR GO; GO:0005829; C:cytosol; IDA:HPA.
DR GO; GO:0015630; C:microtubule cytoskeleton; IDA:UniProtKB.
DR GO; GO:0005739; C:mitochondrion; IDA:HPA.
DR GO; GO:0005654; C:nucleoplasm; IDA:HPA.
DR GO; GO:0032391; C:photoreceptor connecting cilium; ISS:UniProtKB.
DR GO; GO:0120206; C:photoreceptor distal connecting cilium; IBA:GO_Central.
DR GO; GO:0120200; C:rod photoreceptor outer segment; IBA:GO_Central.
DR GO; GO:0000226; P:microtubule cytoskeleton organization; IBA:GO_Central.
DR GO; GO:0045494; P:photoreceptor cell maintenance; ISS:UniProtKB.
DR GO; GO:1903621; P:protein localization to photoreceptor connecting cilium; ISS:UniProtKB.
DR GO; GO:1903546; P:protein localization to photoreceptor outer segment; ISS:UniProtKB.
DR GO; GO:0050896; P:response to stimulus; IEA:UniProtKB-KW.
DR GO; GO:0007601; P:visual perception; IEA:UniProtKB-KW.
DR InterPro; IPR029357; SPATA7.
DR PANTHER; PTHR14917; PTHR14917; 1.
DR Pfam; PF15244; HSD3; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Cell projection; Cytoplasm; Cytoskeleton;
KW Leber congenital amaurosis; Reference proteome; Retinitis pigmentosa;
KW Sensory transduction; Vision.
FT CHAIN 1..599
FT /note="Spermatogenesis-associated protein 7"
FT /id="PRO_0000072104"
FT REGION 163..205
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 163..185
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 32..63
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:11230166,
FT ECO:0000303|PubMed:15489334"
FT /id="VSP_008341"
FT VAR_SEQ 428..568
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:12736779"
FT /id="VSP_008342"
FT VARIANT 2
FT /note="D -> N (in dbSNP:rs4904448)"
FT /id="VAR_051370"
FT VARIANT 74
FT /note="V -> M (in dbSNP:rs3179969)"
FT /evidence="ECO:0000269|PubMed:11230166,
FT ECO:0000269|PubMed:12736779"
FT /id="VAR_016912"
FT VARIANT 119
FT /note="F -> L (in dbSNP:rs35137272)"
FT /id="VAR_051371"
FT VARIANT 165
FT /note="S -> N (in dbSNP:rs17124662)"
FT /id="VAR_051372"
FT VARIANT 324
FT /note="G -> E (in dbSNP:rs17124677)"
FT /id="VAR_051373"
FT VARIANT 332
FT /note="I -> T (found in a patient with LCA3;
FT dbSNP:rs534658921)"
FT /evidence="ECO:0000269|PubMed:21602930"
FT /id="VAR_067191"
FT VARIANT 534
FT /note="R -> Q (in dbSNP:rs10139784)"
FT /id="VAR_051374"
FT CONFLICT 124
FT /note="K -> E (in Ref. 2; CAB66539)"
FT /evidence="ECO:0000305"
FT CONFLICT 217
FT /note="I -> T (in Ref. 3; AAF66077)"
FT /evidence="ECO:0000305"
FT CONFLICT 305
FT /note="A -> AA (in Ref. 1; AAF66078)"
FT /evidence="ECO:0000305"
FT CONFLICT 405
FT /note="E -> G (in Ref. 2; CAB66539)"
FT /evidence="ECO:0000305"
FT CONFLICT 451
FT /note="E -> K (in Ref. 2; CAB66539)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 599 AA; 67719 MW; DEED7B4D732CC74F CRC64;
MDGSRRVRAT SVLPRYGPPC LFKGHLSTKS NAFCTDSSSL RLSTLQLVKN HMAVHYNKIL
SAKAAVDCSV PVSVSTSIKY ADQQRREKLK KELAQCEKEF KLTKTAMRAN YKNNSKSLFN
TLQKPSGEPQ IEDDMLKEEM NGFSSFARSL VPSSERLHLS LHKSSKVITN GPEKNSSSSP
SSVDYAASGP RKLSSGALYG RRPRSTFPNS HRFQLVISKA PSGDLLDKHS ELFSNKQLPF
TPRTLKTEAK SFLSQYRYYT PAKRKKDFTD QRIEAETQTE LSFKSELGTA ETKNMTDSEM
NIKQASNCVT YDAKEKIAPL PLEGHDSTWD EIKDDALQHS SPRAMCQYSL KPPSTRKIYS
DEEELLYLSF IEDVTDEILK LGLFSNRFLE RLFERHIKQN KHLEEEKMRH LLHVLKVDLG
CTSEENSVKQ NDVDMLNVFD FEKAGNSEPN ELKNESEVTI QQERQQYQKA LDMLLSAPKD
ENEIFPSPTE FFMPIYKSKH SEGVIIQQVN DETNLETSTL DENHPSISDS LTDRETSVNV
IEGDSDPEKV EISNGLCGLN TSPSQSVQFS SVKGDNNHDM ELSTLKIMEM SIEDCPLDV
