SPT46_HUMAN
ID SPT46_HUMAN Reviewed; 261 AA.
AC Q5T0L3; Q6X961; Q8NEC3;
DT 06-MAR-2007, integrated into UniProtKB/Swiss-Prot.
DT 11-JAN-2011, sequence version 3.
DT 03-AUG-2022, entry version 109.
DE RecName: Full=Spermatogenesis-associated protein 46 {ECO:0000303|PubMed:27488028};
GN Name=SPATA46 {ECO:0000312|HGNC:HGNC:27648}; Synonyms=C1orf111;
GN ORFNames=HSD20;
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 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 [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANTS VAL-69 AND HIS-217.
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 [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-253, AND VARIANT VAL-69.
RC TISSUE=Testis;
RA Yang C.B., Miao S.Y., Zhang X.D., Qiao Y., Liang G., Wang L.F.;
RT "A new spermatogenesis-related gene.";
RL Submitted (MAR-2003) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP TISSUE SPECIFICITY.
RX PubMed=27488028; DOI=10.1095/biolreprod.116.140996;
RA Chen J., Gu Y., Zhang Z., Zheng W., Yang L., Huang W., Lin S., Li Y.,
RA Guo H., Luo M., Ma Q., Jiang Z., Tang A., Gui Y.;
RT "Deficiency of SPATA46, a novel nuclear membrane protein, causes
RT subfertility in male mice.";
RL Biol. Reprod. 95:58-58(2016).
CC -!- FUNCTION: Plays a role in spermiogenesis and fertilization.
CC {ECO:0000250|UniProtKB:Q4FZF2}.
CC -!- INTERACTION:
CC Q5T0L3; Q86V38: ATN1; NbExp=3; IntAct=EBI-750105, EBI-11954292;
CC Q5T0L3; P02489: CRYAA; NbExp=3; IntAct=EBI-750105, EBI-6875961;
CC Q5T0L3; A8MQ03: CYSRT1; NbExp=3; IntAct=EBI-750105, EBI-3867333;
CC Q5T0L3; Q14204: DYNC1H1; NbExp=3; IntAct=EBI-750105, EBI-356015;
CC Q5T0L3; Q9H0I2: ENKD1; NbExp=3; IntAct=EBI-750105, EBI-744099;
CC Q5T0L3; P50747: HLCS; NbExp=4; IntAct=EBI-750105, EBI-3915568;
CC Q5T0L3; P31942-2: HNRNPH3; NbExp=3; IntAct=EBI-750105, EBI-16399628;
CC Q5T0L3; Q92876: KLK6; NbExp=3; IntAct=EBI-750105, EBI-2432309;
CC Q5T0L3; O76011: KRT34; NbExp=3; IntAct=EBI-750105, EBI-1047093;
CC Q5T0L3; Q93062: RBPMS; NbExp=3; IntAct=EBI-750105, EBI-740322;
CC Q5T0L3; O43711: TLX3; NbExp=3; IntAct=EBI-750105, EBI-3939165;
CC Q5T0L3; Q13077: TRAF1; NbExp=3; IntAct=EBI-750105, EBI-359224;
CC -!- SUBCELLULAR LOCATION: Nucleus membrane {ECO:0000250|UniProtKB:Q4FZF2}.
CC Note=Located throughout the subacrosomal area.
CC {ECO:0000250|UniProtKB:Q4FZF2}.
CC -!- TISSUE SPECIFICITY: Testis-specific (PubMed:27488028).
CC {ECO:0000269|PubMed:27488028}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAP20051.1; Type=Frameshift; Evidence={ECO:0000305};
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DR EMBL; AL512785; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC032957; AAH32957.1; -; mRNA.
DR EMBL; AY248900; AAP20051.1; ALT_FRAME; mRNA.
DR CCDS; CCDS1238.1; -.
DR RefSeq; NP_872387.2; NM_182581.3.
DR AlphaFoldDB; Q5T0L3; -.
DR BioGRID; 129933; 34.
DR IntAct; Q5T0L3; 19.
DR STRING; 9606.ENSP00000356912; -.
DR iPTMnet; Q5T0L3; -.
DR PhosphoSitePlus; Q5T0L3; -.
DR BioMuta; SPATA46; -.
DR DMDM; 317373467; -.
DR PaxDb; Q5T0L3; -.
DR PeptideAtlas; Q5T0L3; -.
DR PRIDE; Q5T0L3; -.
DR ProteomicsDB; 64178; -.
DR Antibodypedia; 34319; 171 antibodies from 17 providers.
DR DNASU; 284680; -.
DR Ensembl; ENST00000367935.10; ENSP00000356912.4; ENSG00000171722.13.
DR GeneID; 284680; -.
DR KEGG; hsa:284680; -.
DR MANE-Select; ENST00000367935.10; ENSP00000356912.4; NM_182581.4; NP_872387.2.
DR UCSC; uc001gbx.3; human.
DR CTD; 284680; -.
DR DisGeNET; 284680; -.
DR GeneCards; SPATA46; -.
DR HGNC; HGNC:27648; SPATA46.
DR HPA; ENSG00000171722; Tissue enriched (testis).
DR MIM; 617257; gene.
DR neXtProt; NX_Q5T0L3; -.
DR OpenTargets; ENSG00000171722; -.
DR PharmGKB; PA142672495; -.
DR VEuPathDB; HostDB:ENSG00000171722; -.
DR eggNOG; ENOG502S3KA; Eukaryota.
DR GeneTree; ENSGT00390000007598; -.
DR HOGENOM; CLU_073753_0_0_1; -.
DR InParanoid; Q5T0L3; -.
DR OMA; GSCQAFN; -.
DR OrthoDB; 1142827at2759; -.
DR PhylomeDB; Q5T0L3; -.
DR TreeFam; TF337124; -.
DR PathwayCommons; Q5T0L3; -.
DR SignaLink; Q5T0L3; -.
DR BioGRID-ORCS; 284680; 10 hits in 1054 CRISPR screens.
DR GenomeRNAi; 284680; -.
DR Pharos; Q5T0L3; Tdark.
DR PRO; PR:Q5T0L3; -.
DR Proteomes; UP000005640; Chromosome 1.
DR RNAct; Q5T0L3; protein.
DR Bgee; ENSG00000171722; Expressed in left testis and 105 other tissues.
DR ExpressionAtlas; Q5T0L3; baseline and differential.
DR Genevisible; Q5T0L3; HS.
DR GO; GO:0031965; C:nuclear membrane; ISS:UniProtKB.
DR GO; GO:0030154; P:cell differentiation; IEA:UniProtKB-KW.
DR GO; GO:0009566; P:fertilization; IBA:GO_Central.
DR GO; GO:0007342; P:fusion of sperm to egg plasma membrane involved in single fertilization; ISS:UniProtKB.
DR GO; GO:0007283; P:spermatogenesis; ISS:UniProtKB.
DR InterPro; IPR040879; Spt46-like.
DR PANTHER; PTHR33517; PTHR33517; 1.
DR Pfam; PF17734; Spt46; 1.
PE 1: Evidence at protein level;
KW Differentiation; Membrane; Nucleus; Reference proteome; Spermatogenesis.
FT CHAIN 1..261
FT /note="Spermatogenesis-associated protein 46"
FT /id="PRO_0000279458"
FT REGION 140..159
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VARIANT 69
FT /note="A -> V (in dbSNP:rs164181)"
FT /evidence="ECO:0000269|PubMed:15489334, ECO:0000269|Ref.3"
FT /id="VAR_030904"
FT VARIANT 217
FT /note="R -> H (in dbSNP:rs17853130)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_030905"
SQ SEQUENCE 261 AA; 29150 MW; CB3CD34987BD2AD0 CRC64;
MENFSLLSIS GPPISSSALS AFPDIMFSRA TSLPDIAKTA VPTEASSPAQ ALPPQYQSII
VRQGIQNTAL SPDCSLGDTQ HGEKLRRNCT IYRPWFSPYS YFVCADKESQ LEAYDFPEVQ
QDEGKWDNCL SEDMAENICS SSSSPENTCP REATKKSRHG LDSITSQDIL MASRWHPAQQ
NGYKCVACCR MYPTLDFLKS HIKRGFREGF SCKVYYRKLK ALWSKEQKAR LGDRLSSGSC
QAFNSPAEHL RQIGGEAYLC L
