SPAT6_HUMAN
ID SPAT6_HUMAN Reviewed; 488 AA.
AC Q9NWH7; Q5T3N7; Q8WUE6;
DT 20-FEB-2007, integrated into UniProtKB/Swiss-Prot.
DT 01-OCT-2000, sequence version 1.
DT 03-AUG-2022, entry version 143.
DE RecName: Full=Spermatogenesis-associated protein 6;
DE Flags: Precursor;
GN Name=SPATA6;
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 [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Embryo;
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 [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16710414; DOI=10.1038/nature04727;
RA Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A.,
RA Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C.,
RA Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.,
RA Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C.,
RA Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W.,
RA Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J.,
RA Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J.,
RA Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y.,
RA Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J.,
RA Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H.,
RA Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L.,
RA Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J.,
RA Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S.,
RA Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K.,
RA Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R.,
RA Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M.,
RA Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S.,
RA Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J.,
RA Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W.,
RA McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N.,
RA Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V.,
RA Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J.,
RA Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E.,
RA Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S.,
RA Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M.,
RA White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H.,
RA Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E.,
RA Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G.,
RA Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.;
RT "The DNA sequence and biological annotation of human chromosome 1.";
RL Nature 441:315-321(2006).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
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).
RN [4]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-217 AND SER-219, AND
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Sperm;
RX PubMed=12509440; DOI=10.1074/jbc.m202325200;
RA Ficarro S., Chertihin O., Westbrook V.A., White F., Jayes F., Kalab P.,
RA Marto J.A., Shabanowitz J., Herr J.C., Hunt D.F., Visconti P.E.;
RT "Phosphoproteome analysis of capacitated human sperm. Evidence of tyrosine
RT phosphorylation of a kinase-anchoring protein 3 and valosin-containing
RT protein/p97 during capacitation.";
RL J. Biol. Chem. 278:11579-11589(2003).
RN [5]
RP SUMOYLATION [LARGE SCALE ANALYSIS] AT LYS-248, AND IDENTIFICATION BY MASS
RP SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=28112733; DOI=10.1038/nsmb.3366;
RA Hendriks I.A., Lyon D., Young C., Jensen L.J., Vertegaal A.C.,
RA Nielsen M.L.;
RT "Site-specific mapping of the human SUMO proteome reveals co-modification
RT with phosphorylation.";
RL Nat. Struct. Mol. Biol. 24:325-336(2017).
CC -!- FUNCTION: Required for formation of the sperm connecting piece during
CC spermiogenesis. Sperm connecting piece is essential for linking the
CC developing flagellum to the head during late spermiogenesis. May be
CC involved in myosin-based microfilament transport through interaction
CC with myosin subunits. {ECO:0000250|UniProtKB:Q3U6K5}.
CC -!- SUBUNIT: Interacts with MYL6. {ECO:0000250|UniProtKB:Q3U6K5}.
CC -!- INTERACTION:
CC Q9NWH7-2; Q9BXS5: AP1M1; NbExp=3; IntAct=EBI-17860101, EBI-541426;
CC Q9NWH7-2; Q9H257-2: CARD9; NbExp=3; IntAct=EBI-17860101, EBI-11530605;
CC Q9NWH7-2; P26196: DDX6; NbExp=3; IntAct=EBI-17860101, EBI-351257;
CC Q9NWH7-2; P55040: GEM; NbExp=3; IntAct=EBI-17860101, EBI-744104;
CC Q9NWH7-2; Q96A72: MAGOHB; NbExp=3; IntAct=EBI-17860101, EBI-746778;
CC -!- SUBCELLULAR LOCATION: Secreted {ECO:0000250|UniProtKB:Q3U6K5}. Cell
CC projection, cilium, flagellum {ECO:0000250|UniProtKB:Q3U6K5}.
CC Note=Specifically localizes to the segmented columns and the capitulum
CC of the sperm connecting piece. {ECO:0000250|UniProtKB:Q3U6K5}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q9NWH7-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q9NWH7-2; Sequence=VSP_023277;
CC -!- SIMILARITY: Belongs to the SPATA6 family. {ECO:0000305}.
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DR EMBL; AK000869; BAA91403.1; -; mRNA.
DR EMBL; AL359959; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL356968; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC020660; AAH20660.1; -; mRNA.
DR CCDS; CCDS551.1; -. [Q9NWH7-1]
DR CCDS; CCDS65535.1; -. [Q9NWH7-2]
DR RefSeq; NP_001273167.1; NM_001286238.1. [Q9NWH7-2]
DR RefSeq; NP_061946.1; NM_019073.3. [Q9NWH7-1]
DR AlphaFoldDB; Q9NWH7; -.
DR BioGRID; 120043; 33.
DR IntAct; Q9NWH7; 7.
DR STRING; 9606.ENSP00000360913; -.
DR GlyGen; Q9NWH7; 1 site.
DR iPTMnet; Q9NWH7; -.
DR PhosphoSitePlus; Q9NWH7; -.
DR BioMuta; SPATA6; -.
DR DMDM; 74753022; -.
DR jPOST; Q9NWH7; -.
DR MassIVE; Q9NWH7; -.
DR PaxDb; Q9NWH7; -.
DR PeptideAtlas; Q9NWH7; -.
DR PRIDE; Q9NWH7; -.
DR ProteomicsDB; 82938; -. [Q9NWH7-1]
DR ProteomicsDB; 82939; -. [Q9NWH7-2]
DR Antibodypedia; 32902; 93 antibodies from 24 providers.
DR DNASU; 54558; -.
DR Ensembl; ENST00000371843.7; ENSP00000360909.3; ENSG00000132122.12. [Q9NWH7-2]
DR Ensembl; ENST00000371847.8; ENSP00000360913.3; ENSG00000132122.12. [Q9NWH7-1]
DR GeneID; 54558; -.
DR KEGG; hsa:54558; -.
DR MANE-Select; ENST00000371847.8; ENSP00000360913.3; NM_019073.4; NP_061946.1.
DR UCSC; uc001crr.4; human. [Q9NWH7-1]
DR CTD; 54558; -.
DR DisGeNET; 54558; -.
DR GeneCards; SPATA6; -.
DR HGNC; HGNC:18309; SPATA6.
DR HPA; ENSG00000132122; Tissue enhanced (testis).
DR MIM; 613947; gene.
DR neXtProt; NX_Q9NWH7; -.
DR OpenTargets; ENSG00000132122; -.
DR PharmGKB; PA38312; -.
DR VEuPathDB; HostDB:ENSG00000132122; -.
DR eggNOG; ENOG502QRV3; Eukaryota.
DR GeneTree; ENSGT00530000063821; -.
DR HOGENOM; CLU_038272_2_0_1; -.
DR InParanoid; Q9NWH7; -.
DR OMA; CVNAKNY; -.
DR PhylomeDB; Q9NWH7; -.
DR TreeFam; TF328520; -.
DR PathwayCommons; Q9NWH7; -.
DR SignaLink; Q9NWH7; -.
DR BioGRID-ORCS; 54558; 8 hits in 1070 CRISPR screens.
DR ChiTaRS; SPATA6; human.
DR GenomeRNAi; 54558; -.
DR Pharos; Q9NWH7; Tbio.
DR PRO; PR:Q9NWH7; -.
DR Proteomes; UP000005640; Chromosome 1.
DR RNAct; Q9NWH7; protein.
DR Bgee; ENSG00000132122; Expressed in sperm and 155 other tissues.
DR ExpressionAtlas; Q9NWH7; baseline and differential.
DR Genevisible; Q9NWH7; HS.
DR GO; GO:0005576; C:extracellular region; IEA:UniProtKB-SubCell.
DR GO; GO:0097224; C:sperm connecting piece; ISS:UniProtKB.
DR GO; GO:0032027; F:myosin light chain binding; IBA:GO_Central.
DR GO; GO:0030154; P:cell differentiation; IEA:UniProtKB-KW.
DR GO; GO:0044458; P:motile cilium assembly; ISS:UniProtKB.
DR GO; GO:0007283; P:spermatogenesis; ISS:UniProtKB.
DR InterPro; IPR027207; Spata6.
DR InterPro; IPR042769; SPATA6_fam.
DR InterPro; IPR032732; SPATA6_N.
DR PANTHER; PTHR16435; PTHR16435; 1.
DR PANTHER; PTHR16435:SF3; PTHR16435:SF3; 1.
DR Pfam; PF14909; SPATA6; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Cell projection; Cilium; Developmental protein;
KW Differentiation; Flagellum; Glycoprotein; Isopeptide bond; Phosphoprotein;
KW Reference proteome; Secreted; Signal; Spermatogenesis; Ubl conjugation.
FT SIGNAL 1..20
FT /evidence="ECO:0000255"
FT CHAIN 21..488
FT /note="Spermatogenesis-associated protein 6"
FT /id="PRO_0000278441"
FT REGION 176..199
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 256..275
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 217
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:12509440"
FT MOD_RES 219
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:12509440"
FT MOD_RES 265
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q99MU5"
FT MOD_RES 274
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q99MU5"
FT MOD_RES 325
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q99MU5"
FT MOD_RES 343
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q99MU5"
FT MOD_RES 346
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q99MU5"
FT MOD_RES 354
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q3U6K5"
FT MOD_RES 424
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q99MU5"
FT MOD_RES 465
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q99MU5"
FT MOD_RES 487
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q99MU5"
FT CARBOHYD 181
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CROSSLNK 248
FT /note="Glycyl lysine isopeptide (Lys-Gly) (interchain with
FT G-Cter in SUMO2)"
FT /evidence="ECO:0007744|PubMed:28112733"
FT VAR_SEQ 383..398
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_023277"
FT VARIANT 333
FT /note="R -> W (in dbSNP:rs1338314)"
FT /id="VAR_030774"
FT VARIANT 478
FT /note="C -> F (in dbSNP:rs1056042)"
FT /id="VAR_062174"
FT VARIANT 478
FT /note="C -> S (in dbSNP:rs1056042)"
FT /id="VAR_062175"
FT VARIANT 478
FT /note="C -> Y (in dbSNP:rs1056042)"
FT /id="VAR_030775"
FT CONFLICT 25
FT /note="L -> P (in Ref. 3; AAH20660)"
FT /evidence="ECO:0000305"
FT CONFLICT 28
FT /note="K -> I (in Ref. 3; AAH20660)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 488 AA; 55989 MW; EDBE5286D0679AC8 CRC64;
MPKVKALQCA LALEISSVTC PGVVLKDKED IYLSICVFGQ YKKTQCVPAT FPLVFNARMV
FEKVFPDAVD PGDVVTQLEY DTAVFELIQL VPPVGETLST YDENTRDFMF PGPNQMSGHH
DSNRQVTMRR ISGLRGNAPR LEFSTTSVIT ECLISSRKCH TQDKFIYHLA PVEKSHGRLQ
NRTSRSQKKK SKSPERSKYC INAKNYEQPT ISSKSHSPSP YTKRRMCELS EDTRRRLAHL
NLGPYEFKKE TDKPPFVIRH VDPPSPRADT LLGSSGRDCE RDGWSRVHND HSHLGCCRPK
DYKVIRTPHG RDFDDSLEKC EEYLSPRSCS KPRHSARTLL VHSAPSTMPK HSPSPVLNRA
SLRERFHSDW CSPSNCDEIH DRVKNVLKSH QAHQRHLYDE RDLEKDDELE LKRSLLCRDS
AYDSDPEYSS CQQPRGTFHL DDGEYWSNRA ASYKGKSHRP IFENSMDKMY RNLYKKACSS
ASHTQESF
