ID   S31G1_HUMAN             Reviewed;        1079 AA.
AC   Q5VYM1; A6NLE6; E9PB26; Q86XC6; Q9UF74;
DT   10-JUL-2007, integrated into UniProtKB/Swiss-Prot.
DT   04-NOV-2008, sequence version 3.
DT   27-MAR-2024, entry version 122.
DE   RecName: Full=Spermatogenesis-associated protein 31G1 {ECO:0000305};
GN   Name=SPATA31G1 {ECO:0000312|HGNC:HGNC:31418}; Synonyms=C9orf131;
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=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   [2]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND VARIANT LEU-222.
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 929-1079 (ISOFORM 1).
RC   TISSUE=Testis;
RX   PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA   Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA   Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D.,
RA   Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A.,
RA   Wiemann S., Schupp I.;
RT   "The full-ORF clone resource of the German cDNA consortium.";
RL   BMC Genomics 8:399-399(2007).
RN   [4]
RP   INVOLVEMENT IN ASTHENOZOOSPERMIA, AND VARIANT 1023-ARG--GLN-1079 DEL.
RX   PubMed=36871790; DOI=10.1016/j.ydbio.2023.02.009;
RA   He J., Su L., Wang W., Li Y., Meng L., Tan C., Lin G., Tan Y.Q., Zhang Q.,
RA   Tu C.;
RT   "C9orf131 and C10orf120 are not essential for male fertility in humans or
RT   mice.";
RL   Dev. Biol. 497:11-17(2023).
CC   -!- FUNCTION: Dispensable for normal development and fertility.
CC       {ECO:0000250|UniProtKB:Q3V0E1}.
CC   -!- ALTERNATIVE PRODUCTS:
CC       Event=Alternative splicing; Named isoforms=3;
CC       Name=1;
CC         IsoId=Q5VYM1-1; Sequence=Displayed;
CC       Name=2; Synonyms=D {ECO:0000305};
CC         IsoId=Q5VYM1-2; Sequence=VSP_046224;
CC       Name=3;
CC         IsoId=Q5VYM1-3; Sequence=VSP_046225;
CC   -!- CAUTION: It is uncertain whether Met-1 or Met-15 is the initiator.
CC       {ECO:0000305}.
CC   -!- SEQUENCE CAUTION:
CC       Sequence=AAH45643.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
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DR   EMBL; AL353795; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; BC045643; AAH45643.1; ALT_INIT; mRNA.
DR   EMBL; AL133575; CAB63722.1; -; mRNA.
DR   CCDS; CCDS47961.1; -. [Q5VYM1-2]
DR   CCDS; CCDS47962.1; -. [Q5VYM1-3]
DR   CCDS; CCDS6572.2; -. [Q5VYM1-1]
DR   PIR; T43478; T43478.
DR   RefSeq; NP_001035500.1; NM_001040410.2.
DR   RefSeq; NP_001035501.1; NM_001040411.2. [Q5VYM1-3]
DR   RefSeq; NP_001035502.1; NM_001040412.2. [Q5VYM1-2]
DR   RefSeq; NP_001274320.1; NM_001287391.1.
DR   RefSeq; NP_976044.2; NM_203299.3. [Q5VYM1-1]
DR   AlphaFoldDB; Q5VYM1; -.
DR   BioGRID; 126520; 4.
DR   IntAct; Q5VYM1; 2.
DR   STRING; 9606.ENSP00000308279; -.
DR   iPTMnet; Q5VYM1; -.
DR   PhosphoSitePlus; Q5VYM1; -.
DR   BioMuta; C9orf131; -.
DR   DMDM; 212276515; -.
DR   EPD; Q5VYM1; -.
DR   jPOST; Q5VYM1; -.
DR   MassIVE; Q5VYM1; -.
DR   PaxDb; 9606-ENSP00000308279; -.
DR   PeptideAtlas; Q5VYM1; -.
DR   ProteomicsDB; 1470; -.
DR   ProteomicsDB; 19128; -.
DR   ProteomicsDB; 65638; -. [Q5VYM1-1]
DR   Antibodypedia; 50361; 73 antibodies from 4 providers.
DR   DNASU; 138724; -.
DR   Ensembl; ENST00000312292.6; ENSP00000308279.5; ENSG00000174038.13. [Q5VYM1-1]
DR   Ensembl; ENST00000354479.5; ENSP00000346472.5; ENSG00000174038.13. [Q5VYM1-3]
DR   Ensembl; ENST00000421362.6; ENSP00000393683.2; ENSG00000174038.13. [Q5VYM1-2]
DR   GeneID; 138724; -.
DR   KEGG; hsa:138724; -.
DR   MANE-Select; ENST00000312292.6; ENSP00000308279.5; NM_203299.4; NP_976044.2.
DR   UCSC; uc003zvu.5; human. [Q5VYM1-1]
DR   AGR; HGNC:31418; -.
DR   CTD; 138724; -.
DR   GeneCards; C9orf131; -.
DR   HGNC; HGNC:31418; SPATA31G1.
DR   HPA; ENSG00000174038; Tissue enriched (testis).
DR   neXtProt; NX_Q5VYM1; -.
DR   OpenTargets; ENSG00000174038; -.
DR   PharmGKB; PA145149697; -.
DR   VEuPathDB; HostDB:ENSG00000174038; -.
DR   eggNOG; ENOG502RJ23; Eukaryota.
DR   GeneTree; ENSGT00390000000748; -.
DR   HOGENOM; CLU_010861_0_0_1; -.
DR   InParanoid; Q5VYM1; -.
DR   OMA; WHWSREL; -.
DR   OrthoDB; 4641306at2759; -.
DR   PhylomeDB; Q5VYM1; -.
DR   TreeFam; TF337467; -.
DR   PathwayCommons; Q5VYM1; -.
DR   SignaLink; Q5VYM1; -.
DR   BioGRID-ORCS; 138724; 46 hits in 1139 CRISPR screens.
DR   GenomeRNAi; 138724; -.
DR   Pharos; Q5VYM1; Tdark.
DR   PRO; PR:Q5VYM1; -.
DR   Proteomes; UP000005640; Chromosome 9.
DR   RNAct; Q5VYM1; Protein.
DR   Bgee; ENSG00000174038; Expressed in left testis and 143 other cell types or tissues.
DR   ExpressionAtlas; Q5VYM1; baseline and differential.
DR   InterPro; IPR026677; UPF_C9orf131.
DR   PANTHER; PTHR21777:SF0; RCG55159; 1.
DR   PANTHER; PTHR21777; RCG55159-LIKE; 1.
DR   Genevisible; Q5VYM1; HS.
PE   2: Evidence at transcript level;
KW   Alternative splicing; Reference proteome.
FT   CHAIN           1..1079
FT                   /note="Spermatogenesis-associated protein 31G1"
FT                   /id="PRO_0000294443"
FT   REGION          97..145
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   REGION          261..281
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   REGION          297..317
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   REGION          331..362
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   REGION          376..412
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   REGION          506..566
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   REGION          637..678
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   REGION          840..975
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   COMPBIAS        642..662
FT                   /note="Polar residues"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   COMPBIAS        843..881
FT                   /note="Polar residues"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   COMPBIAS        927..944
FT                   /note="Basic and acidic residues"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   VAR_SEQ         1..76
FT                   /note="MEWLLEDLLGAKGDMGLLWGQLTHALACRHCGSSCFQSPGNLVTLFLFVVWQ
FT                   IQRWWQLGRLRQLHPWCSGNMVQG -> MLR (in isoform 3)"
FT                   /evidence="ECO:0000305"
FT                   /id="VSP_046225"
FT   VAR_SEQ         1..52
FT                   /note="MEWLLEDLLGAKGDMGLLWGQLTHALACRHCGSSCFQSPGNLVTLFLFVVWQ
FT                   -> MLRK (in isoform 2)"
FT                   /evidence="ECO:0000305"
FT                   /id="VSP_046224"
FT   VARIANT         222
FT                   /note="W -> L (in dbSNP:rs615474)"
FT                   /evidence="ECO:0000269|PubMed:15489334"
FT                   /id="VAR_047239"
FT   VARIANT         285
FT                   /note="L -> F (in dbSNP:rs10117097)"
FT                   /id="VAR_047240"
FT   VARIANT         437
FT                   /note="L -> V (in dbSNP:rs35523761)"
FT                   /id="VAR_047241"
FT   VARIANT         623
FT                   /note="S -> T (in dbSNP:rs2298312)"
FT                   /id="VAR_047242"
FT   VARIANT         916
FT                   /note="P -> S (in dbSNP:rs3739871)"
FT                   /id="VAR_047243"
FT   VARIANT         1023..1079
FT                   /note="Missing (found in a patient with asthenozoospermia;
FT                   uncertain significance)"
FT                   /evidence="ECO:0000269|PubMed:36871790"
FT                   /id="VAR_088336"
FT   CONFLICT        218
FT                   /note="S -> Y (in Ref. 2; AAH45643)"
FT                   /evidence="ECO:0000305"
SQ   SEQUENCE   1079 AA;  117724 MW;  8BC7A94F771E468E CRC64;
     MEWLLEDLLG AKGDMGLLWG QLTHALACRH CGSSCFQSPG NLVTLFLFVV WQIQRWWQLG
     RLRQLHPWCS GNMVQGKELP LLHRVAFLDH LCKQKSEVEE EGEEEEEGED EASLDPLKPC
     SPTKEAPTGE QATPAPPQPS CGSEGLLKAI GIPEQTVMQP VSPSRSFPIF QILTSFPVRH
     KIASGNRQQQ RKSQLFWGLP SLHSESLEAI FLSSGGPSPL KWSVCSSVFF NKLAFLPRSN
     LLLPQYHSSA QFSTHGAHTM EDLEGMAPDP QLLPPPSSPS VSSLLLHLRP FPVDHKGVLS
     GAEAPTQSPG TSPLEVLPGY ETHLETTGHK KMPQAFEPPM PPPCQSPASL SEPRKVSPEG
     GLAISKDFWG TVGYREKPQA SESSMPVPCP PLDSLPELQR ESSLEDPSRY KPQWECRENS
     GNLWAFESPV LDLNPELSGT SPECVPPASE TPWKGMQSRE NIWVPADPVS PPSLPSVPLL
     ESLVMGPQGV LSESKALWET MGQKENLWAS DSPDPVHSTP PTTLMEPHRI NPGECLATSE
     ATWKDTEHSR NSSASRSPSL ALSPPPALAP ELLRVRSMGV LSDSEARCGD IQKTKNSWAS
     KHPACNLPQD LHGASPLGVL SDSQSIVGEM EQKENCVPVF PGRGSSPSSN SVSKSHVSEP
     IADQSNYKPD GEAVEQRKNH WATELPAPSS LSTPLPEPHI DLELVWRNVQ QREVPQGPSP
     LAVDPLHPVP QPPTLAEAVK IERTHPGLPK GVTCPGVKAE APLSQRWTVP ELLTHPGIHA
     WQWSRELKLR LKKLRQSPAS RAPGPSQSFC SSPILSSTIP DFWGLPSCPP QQIYPPNPCP
     HSSSCHPQEV QRTVPQPVQS SHCHHFQSSS QLQPQESGRA EQGSQRGEKM KGKMVSQVPS
     QGPCVHMEAG VDYLSPGPGE PSNSKVLVSG KRKDKASASS SAKKREHPRK PKAGDHRRGT
     ARLGLSTVTG KNHPAQARSL VEAPVSTFPQ RSQHRGQSSQ HTALPQLLLP KASGPQDQPE
     AGRRASDILT PRHCKHCPWA HMEKYLSFPT LKASLTRGLQ KVLAKCLDNH RPLPTKSSQ
//