SPAT9_HUMAN
ID SPAT9_HUMAN Reviewed; 254 AA.
AC Q9BWV2; A8K8H3; Q4G122; Q86X33; Q8NA28;
DT 20-FEB-2007, integrated into UniProtKB/Swiss-Prot.
DT 20-FEB-2007, sequence version 2.
DT 03-AUG-2022, entry version 119.
DE RecName: Full=Spermatogenesis-associated protein 9;
DE AltName: Full=Testis development protein NYD-SP16;
GN Name=SPATA9;
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), FUNCTION, SUBCELLULAR LOCATION, AND
RP TISSUE SPECIFICITY.
RC TISSUE=Testis;
RX PubMed=12493713; DOI=10.1095/biolreprod.102.004242;
RA Cheng L.J., Li J.M., Chen J., Ge Y.H., Yu Z.R., Han D.S., Zhou Z.M.,
RA Sha J.H.;
RT "NYD-SP16, a novel gene associated with spermatogenesis of human testis.";
RL Biol. Reprod. 68:190-198(2003).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2), AND VARIANT
RP GLU-209.
RC TISSUE=Testis;
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] (ISOFORMS 1 AND 3).
RC TISSUE=Brain, 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).
CC -!- FUNCTION: May play a role in testicular development/spermatogenesis and
CC may be an important factor in male infertility.
CC {ECO:0000269|PubMed:12493713}.
CC -!- SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane
CC protein {ECO:0000305}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q9BWV2-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q9BWV2-2; Sequence=VSP_023282;
CC Name=3;
CC IsoId=Q9BWV2-3; Sequence=VSP_023283, VSP_023284;
CC -!- TISSUE SPECIFICITY: Highly expressed in testes and pancreas. Low levels
CC found in the heart, lungs, and brain. Very low expression detected in
CC the placenta. No expression seen in skeletal muscle, liver, kidney,
CC thymus, small intestine, colons, spleen, leukocytes, prostate gland,
CC and ovary. In the adult testes, expression was about 6.44-fold higher
CC than in the embryo testes. No expression in testes of patients with
CC Sertoli-cell-only syndrome. In patients with arrest at spermatogonium
CC and primary spermatocyte stages, no expression was detected. In
CC patients with arrest at the spermatid stage, expression level was weak
CC or absent. Variable expression was seen in patients with spermatogenic
CC arrest. {ECO:0000269|PubMed:12493713}.
CC -!- MISCELLANEOUS: [Isoform 3]: 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}.
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DR EMBL; AY027526; AAK16746.1; -; mRNA.
DR EMBL; AK093225; BAC04101.1; -; mRNA.
DR EMBL; AK292338; BAF85027.1; -; mRNA.
DR EMBL; BC032832; AAH32832.1; -; mRNA.
DR EMBL; BC047333; AAH47333.1; -; mRNA.
DR CCDS; CCDS4076.1; -. [Q9BWV2-1]
DR RefSeq; NP_114158.2; NM_031952.3. [Q9BWV2-1]
DR RefSeq; XP_011541968.1; XM_011543666.1. [Q9BWV2-2]
DR RefSeq; XP_016865437.1; XM_017009948.1. [Q9BWV2-1]
DR AlphaFoldDB; Q9BWV2; -.
DR BioGRID; 123801; 2.
DR IntAct; Q9BWV2; 2.
DR STRING; 9606.ENSP00000274432; -.
DR iPTMnet; Q9BWV2; -.
DR PhosphoSitePlus; Q9BWV2; -.
DR BioMuta; SPATA9; -.
DR DMDM; 126253804; -.
DR jPOST; Q9BWV2; -.
DR MassIVE; Q9BWV2; -.
DR PaxDb; Q9BWV2; -.
DR PeptideAtlas; Q9BWV2; -.
DR PRIDE; Q9BWV2; -.
DR ProteomicsDB; 79322; -. [Q9BWV2-1]
DR ProteomicsDB; 79323; -. [Q9BWV2-2]
DR ProteomicsDB; 79324; -. [Q9BWV2-3]
DR Antibodypedia; 2732; 56 antibodies from 16 providers.
DR DNASU; 83890; -.
DR Ensembl; ENST00000274432.13; ENSP00000274432.8; ENSG00000145757.16. [Q9BWV2-1]
DR Ensembl; ENST00000316087.12; ENSP00000325491.8; ENSG00000145757.16. [Q9BWV2-1]
DR Ensembl; ENST00000477715.5; ENSP00000427257.1; ENSG00000145757.16. [Q9BWV2-2]
DR Ensembl; ENST00000489917.1; ENSP00000420883.1; ENSG00000145757.16. [Q9BWV2-3]
DR GeneID; 83890; -.
DR KEGG; hsa:83890; -.
DR MANE-Select; ENST00000274432.13; ENSP00000274432.8; NM_031952.4; NP_114158.2.
DR UCSC; uc003kli.2; human. [Q9BWV2-1]
DR CTD; 83890; -.
DR DisGeNET; 83890; -.
DR GeneCards; SPATA9; -.
DR HGNC; HGNC:22988; SPATA9.
DR HPA; ENSG00000145757; Tissue enriched (testis).
DR MIM; 608039; gene.
DR neXtProt; NX_Q9BWV2; -.
DR OpenTargets; ENSG00000145757; -.
DR PharmGKB; PA134900368; -.
DR VEuPathDB; HostDB:ENSG00000145757; -.
DR eggNOG; ENOG502SNFZ; Eukaryota.
DR GeneTree; ENSGT00390000014160; -.
DR HOGENOM; CLU_097205_0_0_1; -.
DR InParanoid; Q9BWV2; -.
DR OMA; MFPEGEI; -.
DR PhylomeDB; Q9BWV2; -.
DR TreeFam; TF338769; -.
DR PathwayCommons; Q9BWV2; -.
DR SignaLink; Q9BWV2; -.
DR BioGRID-ORCS; 83890; 10 hits in 1068 CRISPR screens.
DR ChiTaRS; SPATA9; human.
DR GenomeRNAi; 83890; -.
DR Pharos; Q9BWV2; Tdark.
DR PRO; PR:Q9BWV2; -.
DR Proteomes; UP000005640; Chromosome 5.
DR RNAct; Q9BWV2; protein.
DR Bgee; ENSG00000145757; Expressed in sperm and 96 other tissues.
DR ExpressionAtlas; Q9BWV2; baseline and differential.
DR Genevisible; Q9BWV2; HS.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0030154; P:cell differentiation; IEA:UniProtKB-KW.
DR GO; GO:0007283; P:spermatogenesis; IEA:UniProtKB-KW.
DR InterPro; IPR031659; SPATA9.
DR PANTHER; PTHR35669; PTHR35669; 1.
DR Pfam; PF15824; SPATA9; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; Developmental protein; Differentiation; Membrane;
KW Reference proteome; Spermatogenesis; Transmembrane; Transmembrane helix.
FT CHAIN 1..254
FT /note="Spermatogenesis-associated protein 9"
FT /id="PRO_0000278446"
FT TRANSMEM 143..165
FT /note="Helical"
FT /evidence="ECO:0000255"
FT VAR_SEQ 51..126
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_023282"
FT VAR_SEQ 127..135
FT /note="VRKGSLFEI -> EKKMGLQLS (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_023283"
FT VAR_SEQ 136..254
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_023284"
FT VARIANT 209
FT /note="K -> E (in dbSNP:rs34297786)"
FT /evidence="ECO:0000269|PubMed:14702039"
FT /id="VAR_051375"
FT CONFLICT 24
FT /note="I -> V (in Ref. 2; BAC04101)"
FT /evidence="ECO:0000305"
FT CONFLICT 98
FT /note="A -> T (in Ref. 1; AAK16746)"
FT /evidence="ECO:0000305"
FT CONFLICT 102
FT /note="L -> S (in Ref. 2; BAF85027)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 254 AA; 28740 MW; 045740C381DDFB7D CRC64;
MPIKPVGWIC GQVLKNFSGR IEGIQKAIMD LVDEFKDEFP TILRLSQSNQ KREPAQKTSK
IRMAIALAKI NRATLIRGLN SISRSSKSVA KLLHPQLACR LLELRDISGR LLREVNAPRQ
PLYNIQVRKG SLFEIISFPA KTALTSIIYA SYAALIYLAV CVNAVLKKVK NIFQEEESIR
QNREESENCR KAFSEPVLSE PMFAEGEIKA KPYRSLPEKP DISDYPKLLA NKQSNNIQVL
HSVFDQSAEM NEQI
