SACA6_MOUSE
ID SACA6_MOUSE Reviewed; 339 AA.
AC E9Q8Q8; B7ZWC7; D3Z1S3; J3QMI7;
DT 14-OCT-2015, integrated into UniProtKB/Swiss-Prot.
DT 05-APR-2011, sequence version 1.
DT 03-AUG-2022, entry version 70.
DE RecName: Full=Sperm acrosome membrane-associated protein 6 {ECO:0000303|PubMed:24275887};
DE Flags: Precursor;
GN Name=Spaca6 {ECO:0000303|PubMed:24275887};
OS Mus musculus (Mouse).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae;
OC Murinae; Mus; Mus.
OX NCBI_TaxID=10090;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RC STRAIN=C57BL/6J;
RX PubMed=19468303; DOI=10.1371/journal.pbio.1000112;
RA Church D.M., Goodstadt L., Hillier L.W., Zody M.C., Goldstein S., She X.,
RA Bult C.J., Agarwala R., Cherry J.L., DiCuccio M., Hlavina W., Kapustin Y.,
RA Meric P., Maglott D., Birtle Z., Marques A.C., Graves T., Zhou S.,
RA Teague B., Potamousis K., Churas C., Place M., Herschleb J., Runnheim R.,
RA Forrest D., Amos-Landgraf J., Schwartz D.C., Cheng Z., Lindblad-Toh K.,
RA Eichler E.E., Ponting C.P.;
RT "Lineage-specific biology revealed by a finished genome assembly of the
RT mouse.";
RL PLoS Biol. 7:E1000112-E1000112(2009).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
RC TISSUE=Brain;
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 [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 21-339 (ISOFORM 2).
RC TISSUE=Testis;
RX PubMed=16141072; DOI=10.1126/science.1112014;
RA Carninci P., Kasukawa T., Katayama S., Gough J., Frith M.C., Maeda N.,
RA Oyama R., Ravasi T., Lenhard B., Wells C., Kodzius R., Shimokawa K.,
RA Bajic V.B., Brenner S.E., Batalov S., Forrest A.R., Zavolan M., Davis M.J.,
RA Wilming L.G., Aidinis V., Allen J.E., Ambesi-Impiombato A., Apweiler R.,
RA Aturaliya R.N., Bailey T.L., Bansal M., Baxter L., Beisel K.W., Bersano T.,
RA Bono H., Chalk A.M., Chiu K.P., Choudhary V., Christoffels A.,
RA Clutterbuck D.R., Crowe M.L., Dalla E., Dalrymple B.P., de Bono B.,
RA Della Gatta G., di Bernardo D., Down T., Engstrom P., Fagiolini M.,
RA Faulkner G., Fletcher C.F., Fukushima T., Furuno M., Futaki S.,
RA Gariboldi M., Georgii-Hemming P., Gingeras T.R., Gojobori T., Green R.E.,
RA Gustincich S., Harbers M., Hayashi Y., Hensch T.K., Hirokawa N., Hill D.,
RA Huminiecki L., Iacono M., Ikeo K., Iwama A., Ishikawa T., Jakt M.,
RA Kanapin A., Katoh M., Kawasawa Y., Kelso J., Kitamura H., Kitano H.,
RA Kollias G., Krishnan S.P., Kruger A., Kummerfeld S.K., Kurochkin I.V.,
RA Lareau L.F., Lazarevic D., Lipovich L., Liu J., Liuni S., McWilliam S.,
RA Madan Babu M., Madera M., Marchionni L., Matsuda H., Matsuzawa S., Miki H.,
RA Mignone F., Miyake S., Morris K., Mottagui-Tabar S., Mulder N., Nakano N.,
RA Nakauchi H., Ng P., Nilsson R., Nishiguchi S., Nishikawa S., Nori F.,
RA Ohara O., Okazaki Y., Orlando V., Pang K.C., Pavan W.J., Pavesi G.,
RA Pesole G., Petrovsky N., Piazza S., Reed J., Reid J.F., Ring B.Z.,
RA Ringwald M., Rost B., Ruan Y., Salzberg S.L., Sandelin A., Schneider C.,
RA Schoenbach C., Sekiguchi K., Semple C.A., Seno S., Sessa L., Sheng Y.,
RA Shibata Y., Shimada H., Shimada K., Silva D., Sinclair B., Sperling S.,
RA Stupka E., Sugiura K., Sultana R., Takenaka Y., Taki K., Tammoja K.,
RA Tan S.L., Tang S., Taylor M.S., Tegner J., Teichmann S.A., Ueda H.R.,
RA van Nimwegen E., Verardo R., Wei C.L., Yagi K., Yamanishi H.,
RA Zabarovsky E., Zhu S., Zimmer A., Hide W., Bult C., Grimmond S.M.,
RA Teasdale R.D., Liu E.T., Brusic V., Quackenbush J., Wahlestedt C.,
RA Mattick J.S., Hume D.A., Kai C., Sasaki D., Tomaru Y., Fukuda S.,
RA Kanamori-Katayama M., Suzuki M., Aoki J., Arakawa T., Iida J., Imamura K.,
RA Itoh M., Kato T., Kawaji H., Kawagashira N., Kawashima T., Kojima M.,
RA Kondo S., Konno H., Nakano K., Ninomiya N., Nishio T., Okada M., Plessy C.,
RA Shibata K., Shiraki T., Suzuki S., Tagami M., Waki K., Watahiki A.,
RA Okamura-Oho Y., Suzuki H., Kawai J., Hayashizaki Y.;
RT "The transcriptional landscape of the mammalian genome.";
RL Science 309:1559-1563(2005).
RN [4]
RP FUNCTION, DISRUPTION PHENOTYPE, TISSUE SPECIFICITY, AND ALTERNATIVE
RP SPLICING.
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 [5]
RP FUNCTION, SUBCELLULAR LOCATION, TISSUE SPECIFICITY, DEVELOPMENTAL STAGE,
RP AND DISRUPTION PHENOTYPE.
RX PubMed=32393636; DOI=10.1073/pnas.1922650117;
RA Noda T., Lu Y., Fujihara Y., Oura S., Koyano T., Kobayashi S., Matzuk M.M.,
RA Ikawa M.;
RT "Sperm proteins SOF1, TMEM95, and SPACA6 are required for sperm-oocyte
RT fusion in mice.";
RL Proc. Natl. Acad. Sci. U.S.A. 117:11493-11502(2020).
RN [6]
RP FUNCTION.
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:0000269|PubMed:24275887,
CC ECO:0000269|PubMed:32210282, ECO:0000269|PubMed:32393636}.
CC -!- SUBCELLULAR LOCATION: Cytoplasmic vesicle, secretory vesicle, acrosome
CC membrane {ECO:0000269|PubMed:32393636}; Single-pass type I membrane
CC protein {ECO:0000255}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=E9Q8Q8-1; Sequence=Displayed;
CC Name=2;
CC IsoId=E9Q8Q8-2; Sequence=VSP_057873, VSP_057874;
CC Name=3;
CC IsoId=E9Q8Q8-3; Sequence=VSP_057872, VSP_057875, VSP_057876;
CC -!- TISSUE SPECIFICITY: Highly expressed in testis (PubMed:24275887,
CC PubMed:32393636). Minor expression also detected in epididymis, seminal
CC vesicle and ovary (PubMed:32393636). Predominantly expressed in
CC testicular germ cells during spermiogenesis (PubMed:24275887). Most
CC abundant in round spermatids and detected at lower levels in elongating
CC spermatids (PubMed:24275887). {ECO:0000269|PubMed:24275887,
CC ECO:0000269|PubMed:32393636}.
CC -!- DEVELOPMENTAL STAGE: Expression is first detected on postnatal day 21.
CC {ECO:0000269|PubMed:32393636}.
CC -!- DISRUPTION PHENOTYPE: Male infertility (PubMed:24275887,
CC PubMed:32393636). Testis appearance, size and weight are normal and
CC there is no effect on sperm morphology or motility but there is a
CC failure of sperm-egg interaction and fusion (PubMed:24275887,
CC PubMed:32393636). Spermatozoa undergo normal acrosomal reaction and can
CC penetrate the zona pellucida but accumulate in the perivitelline space
CC as they are unable to fuse with the egg plasma membrane to complete
CC fertilization (PubMed:24275887, PubMed:32393636). No effect on amount
CC or localization of sperm-egg fusion protein IZUMO1 (PubMed:32393636).
CC {ECO:0000269|PubMed:24275887, ECO:0000269|PubMed:32393636}.
CC -!- SIMILARITY: Belongs to the SPACA6 family. {ECO:0000305}.
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DR EMBL; AC165361; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AK016052; -; NOT_ANNOTATED_CDS; mRNA.
DR EMBL; BC171982; AAI71982.1; -; mRNA.
DR EMBL; BC171984; AAI71984.1; -; mRNA.
DR CCDS; CCDS49967.1; -. [E9Q8Q8-1]
DR RefSeq; NP_001156381.1; NM_001162909.1. [E9Q8Q8-1]
DR AlphaFoldDB; E9Q8Q8; -.
DR STRING; 10090.ENSMUSP00000128732; -.
DR GlyGen; E9Q8Q8; 1 site.
DR PhosphoSitePlus; E9Q8Q8; -.
DR PaxDb; E9Q8Q8; -.
DR PRIDE; E9Q8Q8; -.
DR DNASU; 75202; -.
DR Ensembl; ENSMUST00000172097; ENSMUSP00000128732; ENSMUSG00000080316. [E9Q8Q8-1]
DR GeneID; 75202; -.
DR KEGG; mmu:75202; -.
DR UCSC; uc012ald.1; mouse. [E9Q8Q8-1]
DR UCSC; uc012ale.1; mouse.
DR CTD; 147650; -.
DR MGI; MGI:1922452; Spaca6.
DR VEuPathDB; HostDB:ENSMUSG00000080316; -.
DR eggNOG; ENOG502S923; Eukaryota.
DR GeneTree; ENSGT00390000009010; -.
DR HOGENOM; CLU_075835_0_0_1; -.
DR InParanoid; E9Q8Q8; -.
DR OMA; DIEVIWR; -.
DR OrthoDB; 1144972at2759; -.
DR TreeFam; TF342447; -.
DR BioGRID-ORCS; 75202; 2 hits in 73 CRISPR screens.
DR ChiTaRS; Spaca6; mouse.
DR PRO; PR:E9Q8Q8; -.
DR Proteomes; UP000000589; Chromosome 17.
DR RNAct; E9Q8Q8; protein.
DR Bgee; ENSMUSG00000080316; Expressed in spermatid and 85 other tissues.
DR ExpressionAtlas; E9Q8Q8; baseline and differential.
DR Genevisible; E9Q8Q8; MM.
DR GO; GO:0002080; C:acrosomal membrane; IEA:UniProtKB-SubCell.
DR GO; GO:0001669; C:acrosomal vesicle; IDA:UniProtKB.
DR GO; GO:0016021; C:integral component of membrane; ISM:MGI.
DR GO; GO:0007342; P:fusion of sperm to egg plasma membrane involved in single fertilization; IMP:UniProtKB.
DR InterPro; IPR007110; Ig-like_dom.
DR InterPro; IPR036179; Ig-like_dom_sf.
DR InterPro; IPR034549; SPACA6.
DR PANTHER; PTHR37366; PTHR37366; 1.
DR SUPFAM; SSF48726; SSF48726; 1.
DR PROSITE; PS50835; IG_LIKE; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; Cytoplasmic vesicle; Disulfide bond; Fertilization;
KW Glycoprotein; Immunoglobulin domain; Membrane; Reference proteome; Signal;
KW Transmembrane; Transmembrane helix.
FT SIGNAL 1..41
FT /evidence="ECO:0000255, ECO:0000305"
FT CHAIN 42..339
FT /note="Sperm acrosome membrane-associated protein 6"
FT /evidence="ECO:0000255"
FT /id="PRO_0000434004"
FT TOPO_DOM 42..310
FT /note="Extracellular"
FT /evidence="ECO:0000305"
FT TRANSMEM 311..331
FT /note="Helical"
FT /evidence="ECO:0000255, ECO:0000305"
FT TOPO_DOM 332..339
FT /note="Cytoplasmic"
FT /evidence="ECO:0000305"
FT DOMAIN 166..251
FT /note="Ig-like"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00114"
FT CARBOHYD 258
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255, ECO:0000305"
FT DISULFID 186..241
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00114"
FT VAR_SEQ 1..217
FT /note="Missing (in isoform 3)"
FT /id="VSP_057872"
FT VAR_SEQ 207..208
FT /note="VR -> PN (in isoform 2)"
FT /id="VSP_057873"
FT VAR_SEQ 209..339
FT /note="Missing (in isoform 2)"
FT /id="VSP_057874"
FT VAR_SEQ 259..265
FT /note="VTGPPPP -> GTGGVRI (in isoform 3)"
FT /id="VSP_057875"
FT VAR_SEQ 266..339
FT /note="Missing (in isoform 3)"
FT /id="VSP_057876"
SQ SEQUENCE 339 AA; 38503 MW; E75FD0CED86B1623 CRC64;
MTSQRSLSSP QTRRPSVMGL ISLVGSIVLL FLLIFRASTW ACLFCFTTYE ERLRVCQLFV
GREETKINLC RNELEGAFED LKDMKINYDE RSYLHDEFTQ MTVSLQEKAA RRREPFWLAF
KDAAAKLKRT IEHLKKAPAC IPPCGLQEVA RLFHCSGCFS KLCDLPLDCP VQDMLVNRGD
QALFSCIVAF ELPESEITYS WKFVGGVRTK DVTYFRDMPG AHGYLARIRP VQPKHGGTFS
CVILHDQRPL ARLYFYLNVT GPPPPEDTEL QVTFREVMNR TPAEPEMIQP WSPSLGELLT
NPQALTLGNL FLLAATAALG SASVTLLVWL FFRWYLSGN
