SACA6_HUMAN
ID SACA6_HUMAN Reviewed; 324 AA.
AC W5XKT8; C0H5Y6; Q6UWG3;
DT 14-OCT-2015, integrated into UniProtKB/Swiss-Prot.
DT 14-OCT-2015, sequence version 2.
DT 03-AUG-2022, entry version 43.
DE RecName: Full=Sperm acrosome membrane-associated protein 6 {ECO:0000303|PubMed:24275887};
DE AltName: Full=BACHELOR-like protein {ECO:0000312|EMBL:AHI16960.1};
DE Flags: Precursor;
GN Name=SPACA6 {ECO:0000312|HGNC:HGNC:27113}; Synonyms=SPACA6P;
GN ORFNames=UNQ2487/PRO5774 {ECO:0000303|PubMed:12975309};
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), TISSUE SPECIFICITY, AND ALTERNATIVE
RP SPLICING.
RC TISSUE=Testis;
RX PubMed=24275887; DOI=10.1007/s00335-013-9491-x;
RA Lorenzetti D., Poirier C., Zhao M., Overbeek P.A., Harrison W.,
RA Bishop C.E.;
RT "A transgenic insertion on mouse chromosome 17 inactivates a novel
RT immunoglobulin superfamily gene potentially involved in sperm-egg fusion.";
RL Mamm. Genome 25:141-148(2014).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RX PubMed=12975309; DOI=10.1101/gr.1293003;
RA Clark H.F., Gurney A.L., Abaya E., Baker K., Baldwin D.T., Brush J.,
RA Chen J., Chow B., Chui C., Crowley C., Currell B., Deuel B., Dowd P.,
RA Eaton D., Foster J.S., Grimaldi C., Gu Q., Hass P.E., Heldens S., Huang A.,
RA Kim H.S., Klimowski L., Jin Y., Johnson S., Lee J., Lewis L., Liao D.,
RA Mark M.R., Robbie E., Sanchez C., Schoenfeld J., Seshagiri S., Simmons L.,
RA Singh J., Smith V., Stinson J., Vagts A., Vandlen R.L., Watanabe C.,
RA Wieand D., Woods K., Xie M.-H., Yansura D.G., Yi S., Yu G., Yuan J.,
RA Zhang M., Zhang Z., Goddard A.D., Wood W.I., Godowski P.J., Gray A.M.;
RT "The secreted protein discovery initiative (SPDI), a large-scale effort to
RT identify novel human secreted and transmembrane proteins: a bioinformatics
RT assessment.";
RL Genome Res. 13:2265-2270(2003).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15057824; DOI=10.1038/nature02399;
RA Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J., Lamerdin J.E.,
RA Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M., Aerts A.,
RA Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E., Caenepeel S.,
RA Carrano A.V., Caoile C., Chan Y.M., Christensen M., Cleland C.A.,
RA Copeland A., Dalin E., Dehal P., Denys M., Detter J.C., Escobar J.,
RA Flowers D., Fotopulos D., Garcia C., Georgescu A.M., Glavina T., Gomez M.,
RA Gonzales E., Groza M., Hammon N., Hawkins T., Haydu L., Ho I., Huang W.,
RA Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Larionov V.,
RA Leem S.-H., Lopez F., Lou Y., Lowry S., Malfatti S., Martinez D.,
RA McCready P.M., Medina C., Morgan J., Nelson K., Nolan M., Ovcharenko I.,
RA Pitluck S., Pollard M., Popkie A.P., Predki P., Quan G., Ramirez L.,
RA Rash S., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A.,
RA She X., Smith D., Slezak T., Solovyev V., Thayer N., Tice H., Tsai M.,
RA Ustaszewska A., Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J.,
RA Dubchak I., Furey T.S., DeJong P., Dickson M., Gordon D., Eichler E.E.,
RA Pennacchio L.A., Richardson P., Stubbs L., Rokhsar D.S., Myers R.M.,
RA Rubin E.M., Lucas S.M.;
RT "The DNA sequence and biology of human chromosome 19.";
RL Nature 428:529-535(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 (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
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 SUBCELLULAR LOCATION, AND TISSUE SPECIFICITY.
RX PubMed=32210282; DOI=10.1038/s41598-020-62091-y;
RA Barbaux S., Ialy-Radio C., Chalbi M., Dybal E., Homps-Legrand M.,
RA Do Cruzeiro M., Vaiman D., Wolf J.P., Ziyyat A.;
RT "Sperm SPACA6 protein is required for mammalian Sperm-Egg
RT Adhesion/Fusion.";
RL Sci. Rep. 10:5335-5335(2020).
CC -!- FUNCTION: Sperm protein required for fusion of sperm with the egg
CC membrane during fertilization. {ECO:0000250|UniProtKB:E9Q8Q8}.
CC -!- INTERACTION:
CC W5XKT8; Q8N9N5: BANP; NbExp=3; IntAct=EBI-10176265, EBI-744695;
CC -!- SUBCELLULAR LOCATION: Cytoplasmic vesicle, secretory vesicle, acrosome
CC membrane {ECO:0000269|PubMed:32210282}; Single-pass type I membrane
CC protein {ECO:0000255}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=W5XKT8-1; Sequence=Displayed;
CC Name=2;
CC IsoId=W5XKT8-2; Sequence=VSP_057868, VSP_057871;
CC Name=3;
CC IsoId=W5XKT8-3; Sequence=VSP_057869, VSP_057870;
CC -!- TISSUE SPECIFICITY: Detected at the sperm head, equatorial region, neck
CC and midpiece (at protein level) (PubMed:32210282). Expressed in testis
CC (PubMed:24275887). {ECO:0000269|PubMed:24275887,
CC ECO:0000269|PubMed:32210282}.
CC -!- MISCELLANEOUS: [Isoform 2]: Due to intron retention. {ECO:0000305}.
CC -!- MISCELLANEOUS: [Isoform 3]: Due to intron retention. {ECO:0000305}.
CC -!- SIMILARITY: Belongs to the SPACA6 family. {ECO:0000305}.
CC -!- CAUTION: Was originally thought to be a non protein-coding gene.
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DR EMBL; KF751883; AHI16960.1; -; mRNA.
DR EMBL; AY358799; AAQ89159.1; -; mRNA.
DR EMBL; AC018755; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471135; EAW72036.1; -; Genomic_DNA.
DR EMBL; CH471135; EAW72037.1; -; Genomic_DNA.
DR EMBL; BC104208; AAI04209.1; -; mRNA.
DR EMBL; BC041134; -; NOT_ANNOTATED_CDS; mRNA.
DR CCDS; CCDS82386.1; -. [W5XKT8-1]
DR RefSeq; NP_001303901.1; NM_001316972.1. [W5XKT8-1]
DR RefSeq; XP_016881788.1; XM_017026299.1. [W5XKT8-1]
DR AlphaFoldDB; W5XKT8; -.
DR IntAct; W5XKT8; 1.
DR GlyGen; W5XKT8; 1 site.
DR PhosphoSitePlus; W5XKT8; -.
DR BioMuta; SPACA6; -.
DR jPOST; W5XKT8; -.
DR MassIVE; W5XKT8; -.
DR PeptideAtlas; W5XKT8; -.
DR PRIDE; W5XKT8; -.
DR DNASU; 147650; -.
DR Ensembl; ENST00000637797.2; ENSP00000490829.1; ENSG00000182310.15. [W5XKT8-1]
DR GeneID; 147650; -.
DR KEGG; hsa:147650; -.
DR MANE-Select; ENST00000637797.2; ENSP00000490829.1; NM_001316972.2; NP_001303901.1.
DR CTD; 147650; -.
DR DisGeNET; 147650; -.
DR GeneCards; SPACA6; -.
DR HGNC; HGNC:27113; SPACA6.
DR HPA; ENSG00000182310; Group enriched (brain, testis).
DR MIM; 618945; gene.
DR neXtProt; NX_W5XKT8; -.
DR OpenTargets; ENSG00000182310; -.
DR PharmGKB; PA145147917; -.
DR VEuPathDB; HostDB:ENSG00000182310; -.
DR GeneTree; ENSGT00390000009010; -.
DR OMA; DIEVIWR; -.
DR OrthoDB; 1029485at2759; -.
DR PathwayCommons; W5XKT8; -.
DR SignaLink; W5XKT8; -.
DR BioGRID-ORCS; 147650; 0 hits in 21 CRISPR screens.
DR ChiTaRS; SPACA6; human.
DR GenomeRNAi; 147650; -.
DR Pharos; W5XKT8; Tdark.
DR PRO; PR:W5XKT8; -.
DR Proteomes; UP000005640; Chromosome 19.
DR RNAct; W5XKT8; protein.
DR Bgee; ENSG00000182310; Expressed in adenohypophysis and 95 other tissues.
DR ExpressionAtlas; W5XKT8; baseline and differential.
DR GO; GO:0002080; C:acrosomal membrane; IEA:UniProtKB-SubCell.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0007342; P:fusion of sperm to egg plasma membrane involved in single fertilization; ISS:UniProtKB.
DR Gene3D; 2.60.40.10; -; 1.
DR InterPro; IPR007110; Ig-like_dom.
DR InterPro; IPR036179; Ig-like_dom_sf.
DR InterPro; IPR013783; Ig-like_fold.
DR InterPro; IPR034549; SPACA6.
DR PANTHER; PTHR37366; PTHR37366; 1.
DR SUPFAM; SSF48726; SSF48726; 1.
DR PROSITE; PS50835; IG_LIKE; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Cytoplasmic vesicle; Disulfide bond; Fertilization;
KW Glycoprotein; Immunoglobulin domain; Membrane; Reference proteome; Signal;
KW Transmembrane; Transmembrane helix.
FT SIGNAL 1..26
FT /evidence="ECO:0000255"
FT CHAIN 27..324
FT /note="Sperm acrosome membrane-associated protein 6"
FT /evidence="ECO:0000255"
FT /id="PRO_0000434003"
FT TOPO_DOM 27..295
FT /note="Extracellular"
FT /evidence="ECO:0000305"
FT TRANSMEM 296..316
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 317..324
FT /note="Cytoplasmic"
FT /evidence="ECO:0000305"
FT DOMAIN 150..236
FT /note="Ig-like"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00114"
FT CARBOHYD 243
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT DISULFID 170..226
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00114"
FT VAR_SEQ 72..243
FT /note="NYDERSHLHDTFTQMTHALQELAAAQGSFEVAFPDAAEKMKKVITQLKEAQA
FT CIPPCGLQEFARRFLCSGCYSRVCDLPLDCPVQDVTVTRGDQAMFSCIVNFQLPKEEIT
FT YSWKFAGGGLRTQDLSYFRDMPRAEGYLARIRPAQLTHRGTFSCVIKQDQRPLARLYFF
FT LN -> SEETIHTSSVSWGRCRGRAGEAQRVRLRDRQRETVRGERLKDHENNRDLGTER
FT HRQGKTAGQRLREGRMESQRGEDGDSERGEDGDSEREEDGDSEGKMETQEYGESERGGW
FT TLRGGWRVRRMETHRKGRMESQERLETGEGIETQKGEDGDSEGGRWRLKEDGNPERGGQ
FT R (in isoform 2)"
FT /id="VSP_057868"
FT VAR_SEQ 72..211
FT /note="NYDERSHLHDTFTQMTHALQELAAAQGSFEVAFPDAAEKMKKVITQLKEAQA
FT CIPPCGLQEFARRFLCSGCYSRVCDLPLDCPVQDVTVTRGDQAMFSCIVNFQLPKEEIT
FT YSWKFAGGGLRTQDLSYFRDMPRAEGYLA -> SEETIHTSSVSWGRCRGRAGEAQRVR
FT LRDRQRETVRGERLKDHENNRDLGTERHRQGKTAGQRLREGRMESQRGEDGDSERGRME
FT TQRERKMETRKDGDSGVWRVREGRMDTREDGESGGWRLIERGGWRVRRGWRLERE (in
FT isoform 3)"
FT /id="VSP_057869"
FT VAR_SEQ 212..324
FT /note="Missing (in isoform 3)"
FT /id="VSP_057870"
FT VAR_SEQ 244..324
FT /note="Missing (in isoform 2)"
FT /id="VSP_057871"
FT CONFLICT 32
FT /note="T -> A (in Ref. 1; AHI16960)"
FT /evidence="ECO:0000305"
FT CONFLICT 203
FT /note="M -> V (in Ref. 1; AHI16960)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 324 AA; 36333 MW; E93B68493D806755 CRC64;
MALLALASAV PSALLALAVF RVPAWACLLC FTTYSERLRI CQMFVGMRSP KLEECEEAFT
AAFQGLSDTE INYDERSHLH DTFTQMTHAL QELAAAQGSF EVAFPDAAEK MKKVITQLKE
AQACIPPCGL QEFARRFLCS GCYSRVCDLP LDCPVQDVTV TRGDQAMFSC IVNFQLPKEE
ITYSWKFAGG GLRTQDLSYF RDMPRAEGYL ARIRPAQLTH RGTFSCVIKQ DQRPLARLYF
FLNVTGPPPR AETELQASFR EVLRWAPRDA ELIEPWRPSL GELLARPEAL TPSNLFLLAV
LGALASASAT VLAWMFFRWY CSGN
