SACA9_HUMAN
ID SACA9_HUMAN Reviewed; 222 AA.
AC Q96E40; Q9UGQ0;
DT 05-JUL-2005, integrated into UniProtKB/Swiss-Prot.
DT 01-DEC-2001, sequence version 1.
DT 03-AUG-2022, entry version 143.
DE RecName: Full=Sperm acrosome-associated protein 9;
GN Name=SPACA9 {ECO:0000312|HGNC:HGNC:1367}; Synonyms=C9orf9;
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=Uterus;
RA Young J.M., Woodward K.J., Aziz S., Burley M., Kwiatkowski D.J., Povey S.;
RT "Cloning of a sugar transporter gene, a G-beta subunit like gene and three
RT novel genes in human chromosome 9q34.";
RL Submitted (SEP-1998) to the EMBL/GenBank/DDBJ databases.
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Thyroid;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RA Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B.;
RT "Cloning of human full open reading frames in Gateway(TM) system entry
RT vector (pDONR201).";
RL Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15164053; DOI=10.1038/nature02465;
RA Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L.,
RA Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R.,
RA Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S.,
RA Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K.,
RA Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y.,
RA Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C.,
RA Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E.,
RA Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M.,
RA Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J.,
RA Frankish A., Frankland J.A., French L., Fricker D.G., Garner P.,
RA Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S.,
RA Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E.,
RA Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D.,
RA Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E.,
RA Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K.,
RA Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S.,
RA Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J.,
RA Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E.,
RA McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V.,
RA Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S.,
RA Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K.,
RA Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J.,
RA Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M.,
RA West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L.,
RA Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M.,
RA Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J.,
RA Dunham I.;
RT "DNA sequence and analysis of human chromosome 9.";
RL Nature 429:369-374(2004).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
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 CABP1 AND CALR. Interacts with INCA1.
CC {ECO:0000250|UniProtKB:Q4V8P4, ECO:0000250|UniProtKB:Q7TPM5}.
CC -!- INTERACTION:
CC Q96E40; O95967: EFEMP2; NbExp=3; IntAct=EBI-722584, EBI-743414;
CC Q96E40; O00471: EXOC5; NbExp=3; IntAct=EBI-722584, EBI-949824;
CC Q96E40; Q07627: KRTAP1-1; NbExp=3; IntAct=EBI-722584, EBI-11959885;
CC Q96E40; P60370: KRTAP10-5; NbExp=3; IntAct=EBI-722584, EBI-10172150;
CC Q96E40; P60409: KRTAP10-7; NbExp=3; IntAct=EBI-722584, EBI-10172290;
CC Q96E40; P60410: KRTAP10-8; NbExp=3; IntAct=EBI-722584, EBI-10171774;
CC Q96E40; P60411: KRTAP10-9; NbExp=3; IntAct=EBI-722584, EBI-10172052;
CC -!- SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:Q7TPM5}.
CC Cytoplasmic vesicle, secretory vesicle, acrosome
CC {ECO:0000250|UniProtKB:Q7TPM5}. Cytoplasm, cytoskeleton, cilium basal
CC body {ECO:0000250|UniProtKB:Q7TPM5}. Cell projection, cilium, flagellum
CC {ECO:0000250|UniProtKB:Q7TPM5}. Nucleus {ECO:0000250|UniProtKB:Q4V8P4}.
CC Note=In caudal sperms localizes onto sperm head. Is also present on
CC midpiece and principle piece of sperm tails. Acrosome and sperm tail
CC localization is regulated by Y-chromosome.
CC {ECO:0000250|UniProtKB:Q7TPM5}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q96E40-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q96E40-2; Sequence=VSP_014456, VSP_014457;
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DR EMBL; AJ011375; CAB66158.1; -; mRNA.
DR EMBL; AK075259; BAC11503.1; -; mRNA.
DR EMBL; CR457210; CAG33491.1; -; mRNA.
DR EMBL; AL445645; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC012940; AAH12940.1; -; mRNA.
DR CCDS; CCDS6955.1; -. [Q96E40-2]
DR CCDS; CCDS83434.1; -. [Q96E40-1]
DR RefSeq; NP_001303826.1; NM_001316897.1. [Q96E40-1]
DR RefSeq; NP_001303827.1; NM_001316898.1. [Q96E40-1]
DR RefSeq; NP_001303829.1; NM_001316900.1.
DR RefSeq; NP_061829.3; NM_018956.4. [Q96E40-2]
DR AlphaFoldDB; Q96E40; -.
DR SMR; Q96E40; -.
DR BioGRID; 116273; 20.
DR IntAct; Q96E40; 15.
DR MINT; Q96E40; -.
DR STRING; 9606.ENSP00000298546; -.
DR iPTMnet; Q96E40; -.
DR PhosphoSitePlus; Q96E40; -.
DR BioMuta; SPACA9; -.
DR DMDM; 68565255; -.
DR EPD; Q96E40; -.
DR jPOST; Q96E40; -.
DR MassIVE; Q96E40; -.
DR MaxQB; Q96E40; -.
DR PaxDb; Q96E40; -.
DR PeptideAtlas; Q96E40; -.
DR PRIDE; Q96E40; -.
DR ProteomicsDB; 76371; -. [Q96E40-1]
DR ProteomicsDB; 76372; -. [Q96E40-2]
DR Antibodypedia; 18219; 59 antibodies from 15 providers.
DR DNASU; 11092; -.
DR Ensembl; ENST00000350499.6; ENSP00000298546.7; ENSG00000165698.16. [Q96E40-2]
DR Ensembl; ENST00000356311.10; ENSP00000348659.5; ENSG00000165698.16. [Q96E40-1]
DR Ensembl; ENST00000372136.7; ENSP00000361209.3; ENSG00000165698.16. [Q96E40-1]
DR GeneID; 11092; -.
DR KEGG; hsa:11092; -.
DR MANE-Select; ENST00000356311.10; ENSP00000348659.5; NM_001316897.2; NP_001303826.1.
DR UCSC; uc004cbx.2; human. [Q96E40-1]
DR CTD; 11092; -.
DR DisGeNET; 11092; -.
DR GeneCards; SPACA9; -.
DR HGNC; HGNC:1367; SPACA9.
DR HPA; ENSG00000165698; Tissue enhanced (epididymis, testis).
DR MIM; 618552; gene.
DR neXtProt; NX_Q96E40; -.
DR OpenTargets; ENSG00000165698; -.
DR PharmGKB; PA25983; -.
DR VEuPathDB; HostDB:ENSG00000165698; -.
DR eggNOG; ENOG502QQV9; Eukaryota.
DR GeneTree; ENSGT00390000007746; -.
DR HOGENOM; CLU_100443_0_0_1; -.
DR InParanoid; Q96E40; -.
DR OMA; EHHCYNS; -.
DR OrthoDB; 1252395at2759; -.
DR PhylomeDB; Q96E40; -.
DR TreeFam; TF328897; -.
DR PathwayCommons; Q96E40; -.
DR SignaLink; Q96E40; -.
DR BioGRID-ORCS; 11092; 15 hits in 1061 CRISPR screens.
DR ChiTaRS; SPACA9; human.
DR GenomeRNAi; 11092; -.
DR Pharos; Q96E40; Tdark.
DR PRO; PR:Q96E40; -.
DR Proteomes; UP000005640; Chromosome 9.
DR RNAct; Q96E40; protein.
DR Bgee; ENSG00000165698; Expressed in left testis and 160 other tissues.
DR ExpressionAtlas; Q96E40; baseline and differential.
DR Genevisible; Q96E40; HS.
DR GO; GO:0001669; C:acrosomal vesicle; IBA:GO_Central.
DR GO; GO:0036064; C:ciliary basal body; ISS:UniProtKB.
DR GO; GO:0097546; C:ciliary base; IBA:GO_Central.
DR GO; GO:0005881; C:cytoplasmic microtubule; IDA:UniProtKB.
DR GO; GO:0005634; C:nucleus; ISS:UniProtKB.
DR GO; GO:0036126; C:sperm flagellum; IBA:GO_Central.
DR GO; GO:0048306; F:calcium-dependent protein binding; IEA:Ensembl.
DR InterPro; IPR027818; SPACA9.
DR PANTHER; PTHR32455; PTHR32455; 1.
DR Pfam; PF15120; SPACA9; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Cell projection; Cilium; Cytoplasm;
KW Cytoplasmic vesicle; Cytoskeleton; Flagellum; Nucleus; Reference proteome.
FT CHAIN 1..222
FT /note="Sperm acrosome-associated protein 9"
FT /id="PRO_0000089673"
FT REGION 164..222
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT SITE 117
FT /note="Essential for interaction with INCA1"
FT /evidence="ECO:0000250|UniProtKB:Q4V8P4"
FT SITE 119
FT /note="Essential for interaction with INCA1"
FT /evidence="ECO:0000250|UniProtKB:Q4V8P4"
FT VAR_SEQ 166..168
FT /note="VSE -> GTT (in isoform 2)"
FT /evidence="ECO:0000303|Ref.1, ECO:0000303|Ref.3"
FT /id="VSP_014456"
FT VAR_SEQ 169..222
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|Ref.1, ECO:0000303|Ref.3"
FT /id="VSP_014457"
FT VARIANT 104
FT /note="V -> I (in dbSNP:rs2231406)"
FT /id="VAR_056817"
SQ SEQUENCE 222 AA; 25166 MW; F052332EB5E6EC96 CRC64;
MNEVKESLRS IEQKYKLFQQ QQLTFTAALE HCRENAHDKI RPISSIGQVQ SYMEHYCNSS
TDRRVLLMFL DICSELNKLC QHFEAVHSGT PVTNNLLEKC KTLVSQSNDL SSLRAKYPHD
VVNHLSCDEA RNHYGGVVSL IPLILDLMKE WIAHSEKLPR KVLQHVSEPQ AHQESTRGAA
RPAQAIGTQP RATKHKCRQL TKASLKPRGC SKPPWRPPGG KL
