SPAT1_HUMAN
ID SPAT1_HUMAN Reviewed; 459 AA.
AC Q5VX52; A0A1W2PQB0; A0PJU9; Q0VDJ9; Q0VDK0; Q6P386; Q9HAR4;
DT 02-SEP-2008, integrated into UniProtKB/Swiss-Prot.
DT 28-MAR-2018, sequence version 4.
DT 03-AUG-2022, entry version 111.
DE RecName: Full=Spermatogenesis-associated protein 1;
DE AltName: Full=Sperm-specific protein SP-2;
GN Name=SPATA1;
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 2).
RC TISSUE=Testis;
RA Li J.M., Sha J.H., Zhou Z.M.;
RT "Cloning of a novel spermatogenesis gene cDNA from a cDNA array.";
RL Submitted (SEP-2000) to the EMBL/GenBank/DDBJ databases.
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16710414; DOI=10.1038/nature04727;
RA Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A.,
RA Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C.,
RA Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.,
RA Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C.,
RA Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W.,
RA Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J.,
RA Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J.,
RA Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y.,
RA Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J.,
RA Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H.,
RA Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L.,
RA Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J.,
RA Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S.,
RA Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K.,
RA Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R.,
RA Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M.,
RA Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S.,
RA Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J.,
RA Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W.,
RA McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N.,
RA Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V.,
RA Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J.,
RA Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E.,
RA Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S.,
RA Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M.,
RA White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H.,
RA Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E.,
RA Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G.,
RA Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.;
RT "The DNA sequence and biological annotation of human chromosome 1.";
RL Nature 441:315-321(2006).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2 AND 3), AND VARIANT
RP LEU-175.
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).
CC -!- SUBUNIT: Interacts with IFT20. {ECO:0000250|UniProtKB:Q9D5R4}.
CC -!- SUBCELLULAR LOCATION: Cytoplasmic vesicle, secretory vesicle, acrosome
CC {ECO:0000250|UniProtKB:Q9D5R4}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q5VX52-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q5VX52-2; Sequence=VSP_035223, VSP_035224;
CC Name=3;
CC IsoId=Q5VX52-4; Sequence=VSP_039875;
CC -!- MISCELLANEOUS: [Isoform 2]: May be produced at very low levels due to a
CC premature stop codon in the mRNA, leading to nonsense-mediated mRNA
CC decay. {ECO:0000305}.
CC -!- CAUTION: It is uncertain whether Met-1 or Met-23 is the initiator.
CC {ECO:0000305}.
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DR EMBL; AF306347; AAG22047.1; -; mRNA.
DR EMBL; AL359762; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC119641; AAI19642.1; -; mRNA.
DR EMBL; BC119642; AAI19643.1; -; mRNA.
DR EMBL; BC127634; AAI27635.1; -; mRNA.
DR RefSeq; NP_001297085.1; NM_001310156.1.
DR RefSeq; XP_011540818.1; XM_011542516.1. [Q5VX52-2]
DR RefSeq; XP_011540819.1; XM_011542517.1. [Q5VX52-2]
DR AlphaFoldDB; Q5VX52; -.
DR SMR; Q5VX52; -.
DR BioGRID; 122096; 34.
DR IntAct; Q5VX52; 25.
DR iPTMnet; Q5VX52; -.
DR PhosphoSitePlus; Q5VX52; -.
DR BioMuta; SPATA1; -.
DR DMDM; 205830058; -.
DR jPOST; Q5VX52; -.
DR PeptideAtlas; Q5VX52; -.
DR PRIDE; Q5VX52; -.
DR ProteomicsDB; 65572; -. [Q5VX52-1]
DR ProteomicsDB; 65573; -. [Q5VX52-2]
DR ProteomicsDB; 65574; -. [Q5VX52-4]
DR TopDownProteomics; Q5VX52-1; -. [Q5VX52-1]
DR TopDownProteomics; Q5VX52-2; -. [Q5VX52-2]
DR Antibodypedia; 78709; 17 antibodies from 7 providers.
DR DNASU; 100505741; -.
DR Ensembl; ENST00000490879.8; ENSP00000492019.2; ENSG00000122432.18.
DR GeneID; 100505741; -.
DR KEGG; hsa:100505741; -.
DR CTD; 100505741; -.
DR DisGeNET; 100505741; -.
DR GeneCards; SPATA1; -.
DR HGNC; HGNC:14682; SPATA1.
DR HPA; ENSG00000122432; Tissue enriched (testis).
DR neXtProt; NX_Q5VX52; -.
DR PharmGKB; PA37910; -.
DR VEuPathDB; HostDB:ENSG00000122432; -.
DR InParanoid; Q5VX52; -.
DR OrthoDB; 657461at2759; -.
DR PhylomeDB; Q5VX52; -.
DR PathwayCommons; Q5VX52; -.
DR SignaLink; Q5VX52; -.
DR BioGRID-ORCS; 100505741; 0 hits in 27 CRISPR screens.
DR ChiTaRS; SPATA1; human.
DR GenomeRNAi; 100505741; -.
DR Pharos; Q5VX52; Tdark.
DR PRO; PR:Q5VX52; -.
DR Proteomes; UP000005640; Chromosome 1.
DR RNAct; Q5VX52; protein.
DR Bgee; ENSG00000122432; Expressed in buccal mucosa cell and 102 other tissues.
DR GO; GO:0001669; C:acrosomal vesicle; ISS:UniProtKB.
DR InterPro; IPR039062; SPAT1.
DR InterPro; IPR031478; SPATA1_C.
DR PANTHER; PTHR14421; PTHR14421; 1.
DR Pfam; PF15743; SPATA1_C; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; Coiled coil; Cytoplasmic vesicle; Reference proteome.
FT CHAIN 1..459
FT /note="Spermatogenesis-associated protein 1"
FT /id="PRO_0000349215"
FT REGION 193..213
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COILED 287..374
FT /evidence="ECO:0000255"
FT COILED 400..453
FT /evidence="ECO:0000255"
FT VAR_SEQ 243..284
FT /note="QCLWENEDDTAISRRQDNQTAEKEYITLPDHPSLPCQPVLSS -> VFGKMK
FT MIQLSVEDRTIRQLKKSTSPYQITLHFLVNLFFLQE (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334, ECO:0000303|Ref.1"
FT /id="VSP_035223"
FT VAR_SEQ 285..459
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334, ECO:0000303|Ref.1"
FT /id="VSP_035224"
FT VAR_SEQ 359..459
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_039875"
FT VARIANT 175
FT /note="V -> L (in dbSNP:rs10493753)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_046284"
FT CONFLICT 3
FT /note="K -> R (in Ref. 1; AAG22047)"
FT /evidence="ECO:0000305"
FT CONFLICT 129
FT /note="L -> P (in Ref. 1; AAG22047)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 459 AA; 52946 MW; D7AC541D2688144B CRC64;
MKKDKKRNKI PIDNYPIQTL VNMSLNPSRP SSSELVELHV FYVPEGSWNY KLNTISTEVV
NKFISAGFLR VSPQLTLRAL RERLGEFLGE DAIAEKFLFL KCIGNNLAVV KEKQESELKL
KSFAPPYALQ PELYLLPVMD HLGNVYSPST VILDERQTNN GVNEADGTIH RPISVTLFKE
ELGRDPSLLE NTLKELPNKN QEEAGGKATA EKSQIAKNQI GNSELPGSLE DSNNDCFGTK
KSQCLWENED DTAISRRQDN QTAEKEYITL PDHPSLPCQP VLSSGITDIS LLQTEREKII
KQMKQVKEER RYLERNREEL VKTVEKLFEQ SKLKRYHAYN GWKKKYLETK KVTASMEEVL
TKLREDLELY YKKLLMQLEA REIKMRPKNL ANITDSKNYL IIQITEVQHA IDQLKRKLDT
DKMKLIVEVK MRKQAVSDLR TLKTELAQKK KIIHLYNLN
