S31E1_HUMAN
ID S31E1_HUMAN Reviewed; 1445 AA.
AC Q6ZUB1; B2RPB1; Q5SQC9; Q8NA41; Q8ND27;
DT 19-JUL-2005, integrated into UniProtKB/Swiss-Prot.
DT 19-JUL-2005, sequence version 2.
DT 03-AUG-2022, entry version 127.
DE RecName: Full=Spermatogenesis-associated protein 31E1;
DE AltName: Full=Protein FAM75E1;
GN Name=SPATA31E1; Synonyms=C9orf79, FAM75E1;
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], AND VARIANTS PRO-335; GLU-682;
RP GLU-704; GLU-1019; GLY-1202 AND HIS-1350.
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 [2]
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 [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
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 NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 290-1445.
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).
CC -!- FUNCTION: May play a role in spermatogenesis. {ECO:0000250}.
CC -!- SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane
CC protein {ECO:0000305}.
CC -!- SIMILARITY: Belongs to the SPATA31 family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAC04087.1; Type=Erroneous initiation; Evidence={ECO:0000305};
CC Sequence=CAD39098.1; Type=Erroneous initiation; Evidence={ECO:0000305};
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DR EMBL; AK093185; BAC04087.1; ALT_INIT; mRNA.
DR EMBL; AK125845; BAC86315.1; -; mRNA.
DR EMBL; AL772337; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC137349; AAI37350.1; -; mRNA.
DR EMBL; AL834438; CAD39098.1; ALT_INIT; mRNA.
DR CCDS; CCDS6676.1; -.
DR RefSeq; NP_849150.3; NM_178828.4.
DR AlphaFoldDB; Q6ZUB1; -.
DR BioGRID; 130337; 2.
DR IntAct; Q6ZUB1; 8.
DR MINT; Q6ZUB1; -.
DR STRING; 9606.ENSP00000322640; -.
DR GlyGen; Q6ZUB1; 4 sites.
DR iPTMnet; Q6ZUB1; -.
DR PhosphoSitePlus; Q6ZUB1; -.
DR BioMuta; SPATA31E1; -.
DR DMDM; 71152415; -.
DR EPD; Q6ZUB1; -.
DR jPOST; Q6ZUB1; -.
DR MassIVE; Q6ZUB1; -.
DR PaxDb; Q6ZUB1; -.
DR PeptideAtlas; Q6ZUB1; -.
DR PRIDE; Q6ZUB1; -.
DR ProteomicsDB; 68326; -.
DR Antibodypedia; 13457; 46 antibodies from 10 providers.
DR DNASU; 286234; -.
DR Ensembl; ENST00000325643.6; ENSP00000322640.5; ENSG00000177992.10.
DR GeneID; 286234; -.
DR KEGG; hsa:286234; -.
DR MANE-Select; ENST00000325643.6; ENSP00000322640.5; NM_178828.5; NP_849150.3.
DR UCSC; uc004app.5; human.
DR CTD; 286234; -.
DR GeneCards; SPATA31E1; -.
DR HGNC; HGNC:26672; SPATA31E1.
DR HPA; ENSG00000177992; Group enriched (brain, testis).
DR neXtProt; NX_Q6ZUB1; -.
DR OpenTargets; ENSG00000177992; -.
DR PharmGKB; PA134886884; -.
DR VEuPathDB; HostDB:ENSG00000177992; -.
DR eggNOG; ENOG502RU0E; Eukaryota.
DR GeneTree; ENSGT00950000183043; -.
DR HOGENOM; CLU_005668_2_0_1; -.
DR InParanoid; Q6ZUB1; -.
DR OMA; PKVRDPC; -.
DR OrthoDB; 1095565at2759; -.
DR PhylomeDB; Q6ZUB1; -.
DR TreeFam; TF338531; -.
DR PathwayCommons; Q6ZUB1; -.
DR SignaLink; Q6ZUB1; -.
DR BioGRID-ORCS; 286234; 7 hits in 1058 CRISPR screens.
DR GenomeRNAi; 286234; -.
DR Pharos; Q6ZUB1; Tdark.
DR PRO; PR:Q6ZUB1; -.
DR Proteomes; UP000005640; Chromosome 9.
DR RNAct; Q6ZUB1; protein.
DR Bgee; ENSG00000177992; Expressed in left testis and 4 other tissues.
DR Genevisible; Q6ZUB1; 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; IPR027970; DUF4599.
DR InterPro; IPR039509; SPATA31/FAM205.
DR Pfam; PF15371; DUF4599; 1.
DR Pfam; PF14650; FAM75; 1.
PE 2: Evidence at transcript level;
KW Differentiation; Glycoprotein; Membrane; Reference proteome;
KW Spermatogenesis; Transmembrane; Transmembrane helix.
FT CHAIN 1..1445
FT /note="Spermatogenesis-associated protein 31E1"
FT /id="PRO_0000089716"
FT TRANSMEM 64..84
FT /note="Helical"
FT /evidence="ECO:0000255"
FT REGION 90..115
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 169..262
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 411..430
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 460..557
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 592..619
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 637..761
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 894..966
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1143..1242
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1254..1280
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1378..1445
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 99..114
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 187..201
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 203..217
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 227..258
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 481..498
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 516..531
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 665..679
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 725..742
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 902..916
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1145..1164
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1200..1225
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT CARBOHYD 408
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 819
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 906
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 1160
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT VARIANT 208
FT /note="T -> S (in dbSNP:rs28510722)"
FT /id="VAR_062203"
FT VARIANT 335
FT /note="T -> P (in dbSNP:rs7850542)"
FT /evidence="ECO:0000269|PubMed:14702039"
FT /id="VAR_022858"
FT VARIANT 409
FT /note="V -> M (in dbSNP:rs34946554)"
FT /id="VAR_053943"
FT VARIANT 586
FT /note="K -> E (in dbSNP:rs35232271)"
FT /id="VAR_053944"
FT VARIANT 671
FT /note="T -> M (in dbSNP:rs36079890)"
FT /id="VAR_053945"
FT VARIANT 682
FT /note="D -> E (in dbSNP:rs4076795)"
FT /evidence="ECO:0000269|PubMed:14702039"
FT /id="VAR_022859"
FT VARIANT 700
FT /note="G -> R (in dbSNP:rs34017995)"
FT /id="VAR_053946"
FT VARIANT 704
FT /note="D -> E (in dbSNP:rs4076794)"
FT /evidence="ECO:0000269|PubMed:14702039"
FT /id="VAR_022860"
FT VARIANT 736
FT /note="A -> V (in dbSNP:rs34791830)"
FT /id="VAR_053947"
FT VARIANT 924
FT /note="P -> L (in dbSNP:rs34051334)"
FT /id="VAR_053948"
FT VARIANT 1019
FT /note="V -> E (in dbSNP:rs10868670)"
FT /evidence="ECO:0000269|PubMed:14702039"
FT /id="VAR_053949"
FT VARIANT 1202
FT /note="D -> G (in dbSNP:rs11789780)"
FT /evidence="ECO:0000269|PubMed:14702039"
FT /id="VAR_022861"
FT VARIANT 1350
FT /note="R -> H (in dbSNP:rs11142017)"
FT /evidence="ECO:0000269|PubMed:14702039"
FT /id="VAR_022862"
FT CONFLICT 806
FT /note="G -> E (in Ref. 1; BAC86315)"
FT /evidence="ECO:0000305"
FT CONFLICT 901
FT /note="N -> S (in Ref. 1; BAC86315)"
FT /evidence="ECO:0000305"
FT CONFLICT 1170
FT /note="L -> F (in Ref. 1; BAC04087)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 1445 AA; 157136 MW; 7461FE3603FBED82 CRC64;
MGNLVIPLGK GRAGRVESGQ RIPPPAPRPS VECTGDDIAL QMEKMLFPLK SPSATWLSPS
STPWMMDFIL TSVCGLVLLF LLLLYVHSDP PSPPPGRKRS SREPQRERSG RSRSRKISAL
KACRILLREL EETRDLNYLL ESHLRKLAGE GSSHLPLGGD PLGDVCKPVP AKAHQPHGKC
MQDPSPASLS PPAPPAPLAS TLSPGPMTFS EPFGPHSTLS ASGPPEPLLP LKCPATQPHV
VFPPSPQPHG PLASSPPPPD SSLAGLQCGS TTCPVPQSSP LHNQVLPPPT RVISGLGCSS
DPIWDLYCWR EAATTWGLST YSHGKSQPRH LPDHTSEASF WGDPTPKHME VGGCTFIHPD
VQKLLETLIA KRALMKMWQE KERKRADHPH MTSLGKEWDI TTLNPFWNVS TQPQQLPRPQ
QVSDATTVGN HLQQKRSQLF WDLPSLNSES LATTVWVSRN PSSQNAHSVP LDKASTSLPG
EPEVEASSQL SQAPPQPHHM AQPQHFTPAW PQSQPPPLAE IQTQAHLSPP VPSLGCSSPP
QIRGCGASYP TSQERTQSVI PTGKEYLEWP LKKRPKWKRV LPSLLKKSQA VLSQPTAHLP
QERPASWSPK SAPILPGVVT SPELPEHWWQ GRNAIHQEQS CGPPSRLQAS GDLLQPDGEF
PGRPQSQAED TQQALLPSQP SDFAGKGRKD VQKTGFRSSG RFSDKGCLGS KLGPDPSRDQ
GSGRTSVKAL DEDKEAEGDL RRSWKYQSVS STPRDPDKEH LENKLQIHLA RKVGEIKEGW
IPMPVRRSWL MAKCAVPKSD THRKPGKLAS WRGGKAHVNT SQELSFLHPC TQQILEVHLV
RFCVRHSWGT DLQSLEPINV WSGEAQAPPF PQSTFTPWAS WVSRVESVPK VPIFLGKRPQ
NGPGDNRTTS KSVPTVSGPL AAPPPEQEGV QRPPRGSQSA DTHGRSEAFP TGHKGRGCSQ
PPTCSLVGRT WQSRTVLESG KPKPRLEGSM GSEMAGNEAW LESESMSPGD PCSSRALQVL
SIGSQWARAE DALQALKVGE KPPTWEVTLG ASVRASSGSV QEDLRSTGAL GTTGNPSASS
VCVAQDPEQL HLKAQVVSEI ALIVQVDSEE QLPGRAPGIL LQDGATGLCL PGRHMDMLTA
ADRLPTQAPL STSQSVSGKN MTASQGPCAL LWKGGDSPGQ QEPGSPKAKA PQKSQKTLGC
ADKGEAHRRP RTGEQGHRSK GPRTSEASGR SHPAQAREIG DKQERKYNQL QLEKGQTPPE
SHFQRKISHH PQGLHPRKGG TRWEDVLQKG KPGADAFQSW GSGPPRQFMD CMADKAWTIS
RVVGQILVDK LGLQWGRGPS EVNRHKGDFR AQENVPSCCH RGHCHQERSR EMRALACSPK
ATPKGHHCPV KNRGIRDRDS SWAPPPREPV SPAGPHHHRP RMASTSGGPH PQLQELMSAQ
RCLAS
