SPT22_HUMAN
ID SPT22_HUMAN Reviewed; 363 AA.
AC Q8NHS9; B4DXB1; D3DTI9; J3KN63; Q969H3; Q96JT4;
DT 03-OCT-2006, integrated into UniProtKB/Swiss-Prot.
DT 18-MAY-2010, sequence version 2.
DT 03-AUG-2022, entry version 137.
DE RecName: Full=Spermatogenesis-associated protein 22 {ECO:0000305};
DE AltName: Full=Testis development protein NYD-SP20;
GN Name=SPATA22 {ECO:0000312|HGNC:HGNC:30705};
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] (ISOFORMS 1 AND 2), AND TISSUE SPECIFICITY.
RC TISSUE=Testis;
RX PubMed=15713825; DOI=10.1002/j.1939-4640.2005.tb01085.x;
RA Huang X., Li J., Lu L., Xu M., Xiao J., Yin L., Zhu H., Zhou Z., Sha J.H.;
RT "Novel development-related alternative splices in human testis identified
RT by cDNA microarrays.";
RL J. Androl. 26:189-196(2005).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
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 GENOMIC DNA].
RX PubMed=16625196; DOI=10.1038/nature04689;
RA Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R.,
RA Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A.,
RA Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J.,
RA Chang J.L., Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J.,
RA DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S.,
RA Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E.,
RA Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K.,
RA LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J.,
RA Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A.,
RA Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K.,
RA Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D.,
RA Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A.,
RA Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.;
RT "DNA sequence of human chromosome 17 and analysis of rearrangement in the
RT human lineage.";
RL Nature 440:1045-1049(2006).
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 (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND VARIANTS MET-148
RP AND THR-160.
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 -!- FUNCTION: Meiosis-specific protein required for homologous
CC recombination in meiosis I. {ECO:0000250|UniProtKB:Q5SV06}.
CC -!- SUBUNIT: Component of a multiprotein complex with MEIOB and RPA2.
CC Interacts with the complex BRME1:HSF2BP:BRCA2.
CC {ECO:0000250|UniProtKB:Q5SV06}.
CC -!- INTERACTION:
CC Q8NHS9; Q9UBB4: ATXN10; NbExp=3; IntAct=EBI-7067260, EBI-702390;
CC Q8NHS9; O75190: DNAJB6; NbExp=3; IntAct=EBI-7067260, EBI-1053164;
CC Q8NHS9; Q01658: DR1; NbExp=3; IntAct=EBI-7067260, EBI-750300;
CC Q8NHS9; P35637: FUS; NbExp=3; IntAct=EBI-7067260, EBI-400434;
CC Q8NHS9; P14136: GFAP; NbExp=3; IntAct=EBI-7067260, EBI-744302;
CC Q8NHS9; Q08379: GOLGA2; NbExp=3; IntAct=EBI-7067260, EBI-618309;
CC Q8NHS9; Q00403: GTF2B; NbExp=3; IntAct=EBI-7067260, EBI-389564;
CC Q8NHS9; Q9Y5Q9: GTF3C3; NbExp=3; IntAct=EBI-7067260, EBI-1054873;
CC Q8NHS9; O75031: HSF2BP; NbExp=6; IntAct=EBI-7067260, EBI-7116203;
CC Q8NHS9; P42858: HTT; NbExp=9; IntAct=EBI-7067260, EBI-466029;
CC Q8NHS9; Q8WXH2: JPH3; NbExp=3; IntAct=EBI-7067260, EBI-1055254;
CC Q8NHS9; Q5S007: LRRK2; NbExp=3; IntAct=EBI-7067260, EBI-5323863;
CC Q8NHS9; P19404: NDUFV2; NbExp=3; IntAct=EBI-7067260, EBI-713665;
CC Q8NHS9; P35240-4: NF2; NbExp=3; IntAct=EBI-7067260, EBI-1014514;
CC Q8NHS9; D3DTS7: PMP22; NbExp=3; IntAct=EBI-7067260, EBI-25882629;
CC Q8NHS9; P37840: SNCA; NbExp=3; IntAct=EBI-7067260, EBI-985879;
CC Q8NHS9; P00441: SOD1; NbExp=3; IntAct=EBI-7067260, EBI-990792;
CC Q8NHS9; Q6NUL7: SPTLC1; NbExp=3; IntAct=EBI-7067260, EBI-25912847;
CC Q8NHS9; Q13148: TARDBP; NbExp=6; IntAct=EBI-7067260, EBI-372899;
CC -!- SUBCELLULAR LOCATION: Chromosome {ECO:0000250|UniProtKB:Q5SV06}.
CC Note=Localizes on meiotic chromosome axes. Accumulates on resected DNA.
CC Localization is dependent on MEIOB. {ECO:0000250|UniProtKB:Q5SV06}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1; Synonyms=NYD-SP20C, NYD-SP20D;
CC IsoId=Q8NHS9-1; Sequence=Displayed;
CC Name=2; Synonyms=NYD-SP20B;
CC IsoId=Q8NHS9-2; Sequence=VSP_020763;
CC Name=3;
CC IsoId=Q8NHS9-3; Sequence=VSP_044858;
CC -!- TISSUE SPECIFICITY: Highly expressed in adult testis.
CC {ECO:0000269|PubMed:15713825}.
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DR EMBL; AF367472; AAK53408.1; -; mRNA.
DR EMBL; AY032684; AAK51120.1; -; mRNA.
DR EMBL; AY035867; AAK61373.1; -; mRNA.
DR EMBL; AY035868; AAK61374.1; -; mRNA.
DR EMBL; AK301892; BAG63323.1; -; mRNA.
DR EMBL; AC025125; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471108; EAW90508.1; -; Genomic_DNA.
DR EMBL; CH471108; EAW90509.1; -; Genomic_DNA.
DR EMBL; CH471108; EAW90510.1; -; Genomic_DNA.
DR EMBL; CH471108; EAW90511.1; -; Genomic_DNA.
DR EMBL; BC029483; AAH29483.1; -; mRNA.
DR CCDS; CCDS11027.1; -. [Q8NHS9-1]
DR CCDS; CCDS54066.1; -. [Q8NHS9-2]
DR CCDS; CCDS54067.1; -. [Q8NHS9-3]
DR RefSeq; NP_001164166.1; NM_001170695.1. [Q8NHS9-1]
DR RefSeq; NP_001164167.1; NM_001170696.1. [Q8NHS9-2]
DR RefSeq; NP_001164168.1; NM_001170697.1. [Q8NHS9-1]
DR RefSeq; NP_001164169.1; NM_001170698.1. [Q8NHS9-1]
DR RefSeq; NP_001164170.1; NM_001170699.1. [Q8NHS9-3]
DR RefSeq; NP_001308265.1; NM_001321336.1.
DR RefSeq; NP_001308266.1; NM_001321337.1. [Q8NHS9-1]
DR RefSeq; NP_115987.2; NM_032598.4. [Q8NHS9-1]
DR AlphaFoldDB; Q8NHS9; -.
DR BioGRID; 124205; 12.
DR IntAct; Q8NHS9; 28.
DR MINT; Q8NHS9; -.
DR STRING; 9606.ENSP00000459580; -.
DR iPTMnet; Q8NHS9; -.
DR PhosphoSitePlus; Q8NHS9; -.
DR BioMuta; SPATA22; -.
DR DMDM; 296452914; -.
DR MassIVE; Q8NHS9; -.
DR PaxDb; Q8NHS9; -.
DR PeptideAtlas; Q8NHS9; -.
DR PRIDE; Q8NHS9; -.
DR ProteomicsDB; 73750; -. [Q8NHS9-1]
DR ProteomicsDB; 73751; -. [Q8NHS9-2]
DR Antibodypedia; 42583; 100 antibodies from 20 providers.
DR DNASU; 84690; -.
DR Ensembl; ENST00000268981.9; ENSP00000268981.5; ENSG00000141255.13. [Q8NHS9-3]
DR Ensembl; ENST00000355380.8; ENSP00000347541.4; ENSG00000141255.13. [Q8NHS9-2]
DR Ensembl; ENST00000397168.7; ENSP00000380354.3; ENSG00000141255.13. [Q8NHS9-1]
DR Ensembl; ENST00000572969.6; ENSP00000460187.1; ENSG00000141255.13. [Q8NHS9-1]
DR Ensembl; ENST00000573128.5; ENSP00000459580.1; ENSG00000141255.13. [Q8NHS9-1]
DR Ensembl; ENST00000575375.5; ENSP00000459329.1; ENSG00000141255.13. [Q8NHS9-1]
DR GeneID; 84690; -.
DR KEGG; hsa:84690; -.
DR MANE-Select; ENST00000572969.6; ENSP00000460187.1; NM_001170698.2; NP_001164169.1.
DR UCSC; uc002fvm.5; human. [Q8NHS9-1]
DR CTD; 84690; -.
DR DisGeNET; 84690; -.
DR GeneCards; SPATA22; -.
DR HGNC; HGNC:30705; SPATA22.
DR HPA; ENSG00000141255; Tissue enriched (testis).
DR MalaCards; SPATA22; -.
DR MIM; 617673; gene.
DR neXtProt; NX_Q8NHS9; -.
DR OpenTargets; ENSG00000141255; -.
DR PharmGKB; PA142670887; -.
DR VEuPathDB; HostDB:ENSG00000141255; -.
DR eggNOG; ENOG502RNNP; Eukaryota.
DR GeneTree; ENSGT00390000018151; -.
DR HOGENOM; CLU_050539_1_0_1; -.
DR InParanoid; Q8NHS9; -.
DR OMA; NIFRCVS; -.
DR PhylomeDB; Q8NHS9; -.
DR TreeFam; TF332549; -.
DR PathwayCommons; Q8NHS9; -.
DR SignaLink; Q8NHS9; -.
DR BioGRID-ORCS; 84690; 10 hits in 1065 CRISPR screens.
DR ChiTaRS; SPATA22; human.
DR GenomeRNAi; 84690; -.
DR Pharos; Q8NHS9; Tbio.
DR PRO; PR:Q8NHS9; -.
DR Proteomes; UP000005640; Chromosome 17.
DR RNAct; Q8NHS9; protein.
DR Bgee; ENSG00000141255; Expressed in sperm and 101 other tissues.
DR ExpressionAtlas; Q8NHS9; baseline and differential.
DR Genevisible; Q8NHS9; HS.
DR GO; GO:0005694; C:chromosome; ISS:UniProtKB.
DR GO; GO:0009566; P:fertilization; IEA:Ensembl.
DR GO; GO:0007276; P:gamete generation; IEA:Ensembl.
DR GO; GO:0007129; P:homologous chromosome pairing at meiosis; IEA:Ensembl.
DR GO; GO:0000711; P:meiotic DNA repair synthesis; IEA:Ensembl.
DR GO; GO:0051445; P:regulation of meiotic cell cycle; IBA:GO_Central.
DR GO; GO:0061458; P:reproductive system development; IEA:Ensembl.
DR InterPro; IPR033536; Spata22.
DR PANTHER; PTHR35258; PTHR35258; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Chromosome; Meiosis; Reference proteome.
FT CHAIN 1..363
FT /note="Spermatogenesis-associated protein 22"
FT /id="PRO_0000251605"
FT REGION 1..51
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 98..127
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 140..170
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 26..51
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 140..162
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 15..57
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15713825"
FT /id="VSP_020763"
FT VAR_SEQ 268..363
FT /note="AVLDSAVTPGPYYSKTFLMRDGKNTLPCVFYEIDRELPRLIRGRVHRCVGNY
FT DQKKNIFQCVSVRPASVSEQKTFQAFVKIADVEMQYYINVMNET -> GS (in
FT isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_044858"
FT VARIANT 112
FT /note="R -> T (in dbSNP:rs2291604)"
FT /id="VAR_027693"
FT VARIANT 148
FT /note="V -> M (in dbSNP:rs1488690)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_027694"
FT VARIANT 155
FT /note="Q -> R (in dbSNP:rs11556563)"
FT /id="VAR_027695"
FT VARIANT 160
FT /note="I -> T (in dbSNP:rs1488689)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_027696"
FT CONFLICT 6
FT /note="N -> S (in Ref. 1; AAK51120/AAK53408/AAK61373/
FT AAK61374)"
FT /evidence="ECO:0000305"
FT CONFLICT 84
FT /note="V -> A (in Ref. 1; AAK53408/AAK61373/AAK61374)"
FT /evidence="ECO:0000305"
FT CONFLICT 106
FT /note="Q -> R (in Ref. 2; BAG63323)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 363 AA; 41318 MW; 71E6C8E4BF2526B8 CRC64;
MKRSLNENSA RSTAGCLPVP LFNQKKRNRQ PLTSNPLKDD SGISTPSDNY DFPPLPTDWA
WEAVNPELAP VMKTVDTGQI PHSVSRPLRS QDSVFNSIQS NTGRSQGGWS YRDGNKNTSL
KTWNKNDFKP QCKRTNLVAN DGKNSCPVSS GAQQQKQLRI PEPPNLSRNK ETELLRQTHS
SKISGCTMRG LDKNSALQTL KPNFQQNQYK KQMLDDIPED NTLKETSLYQ LQFKEKASSL
RIISAVIESM KYWREHAQKT VLLFEVLAVL DSAVTPGPYY SKTFLMRDGK NTLPCVFYEI
DRELPRLIRG RVHRCVGNYD QKKNIFQCVS VRPASVSEQK TFQAFVKIAD VEMQYYINVM
NET
