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SG11A_HUMAN
ID   SG11A_HUMAN             Reviewed;         123 AA.
AC   Q6PDA7; A6NIY0; E9PAK7;
DT   15-JAN-2008, integrated into UniProtKB/Swiss-Prot.
DT   15-JAN-2008, sequence version 3.
DT   03-AUG-2022, entry version 134.
DE   RecName: Full=Sperm-associated antigen 11A {ECO:0000312|HGNC:HGNC:33342};
DE   AltName: Full=Antimicrobial-like protein Bin-1b {ECO:0000250|UniProtKB:Q8VBV2};
DE   AltName: Full=Human epididymis-specific protein 2 {ECO:0000303|PubMed:10698202};
DE            Short=He2 {ECO:0000303|PubMed:10698202};
DE   AltName: Full=Protein EP2 {ECO:0000303|PubMed:11259252};
DE   AltName: Full=Sperm antigen HE2;
DE   Flags: Precursor;
GN   Name=SPAG11A {ECO:0000312|HGNC:HGNC:33342};
GN   Synonyms=BIN1B {ECO:0000250|UniProtKB:Q8K4N2},
GN   EP2 {ECO:0000303|PubMed:11259252}, HE2 {ECO:0000303|PubMed:10698202};
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 2 AND 3), NUCLEOTIDE SEQUENCE [MRNA]
RP   OF 22-123 (ISOFORM 4), AND NUCLEOTIDE SEQUENCE [MRNA] OF 34-103 (ISOFORM
RP   1).
RX   PubMed=10698202; DOI=10.1210/endo.141.3.7389;
RA   Hamil K.G., Sivashanmugam P., Richardson R.T., Grossman G., Ruben S.M.,
RA   Mohler J.L., Petrusz P., O'Rand M.G., French F.S., Hall S.H.;
RT   "HE2 beta and HE2 gamma, new members of an epididymis-specific family of
RT   androgen-regulated proteins in the human.";
RL   Endocrinology 141:1245-1253(2000).
RN   [2]
RP   NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORMS 2 AND 3), AND NUCLEOTIDE
RP   SEQUENCE [GENOMIC DNA] OF 22-123 (ISOFORM 4).
RX   PubMed=11259252; DOI=10.1095/biolreprod64.4.1072;
RA   Frohlich O., Po C., Young L.G.;
RT   "Organization of the human gene encoding the epididymis-specific EP2
RT   protein variants and its relationship to defensin genes.";
RL   Biol. Reprod. 64:1072-1079(2001).
RN   [3]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX   PubMed=16421571; DOI=10.1038/nature04406;
RA   Nusbaum C., Mikkelsen T.S., Zody M.C., Asakawa S., Taudien S., Garber M.,
RA   Kodira C.D., Schueler M.G., Shimizu A., Whittaker C.A., Chang J.L.,
RA   Cuomo C.A., Dewar K., FitzGerald M.G., Yang X., Allen N.R., Anderson S.,
RA   Asakawa T., Blechschmidt K., Bloom T., Borowsky M.L., Butler J., Cook A.,
RA   Corum B., DeArellano K., DeCaprio D., Dooley K.T., Dorris L. III,
RA   Engels R., Gloeckner G., Hafez N., Hagopian D.S., Hall J.L., Ishikawa S.K.,
RA   Jaffe D.B., Kamat A., Kudoh J., Lehmann R., Lokitsang T., Macdonald P.,
RA   Major J.E., Matthews C.D., Mauceli E., Menzel U., Mihalev A.H.,
RA   Minoshima S., Murayama Y., Naylor J.W., Nicol R., Nguyen C., O'Leary S.B.,
RA   O'Neill K., Parker S.C.J., Polley A., Raymond C.K., Reichwald K.,
RA   Rodriguez J., Sasaki T., Schilhabel M., Siddiqui R., Smith C.L.,
RA   Sneddon T.P., Talamas J.A., Tenzin P., Topham K., Venkataraman V., Wen G.,
RA   Yamazaki S., Young S.K., Zeng Q., Zimmer A.R., Rosenthal A., Birren B.W.,
RA   Platzer M., Shimizu N., Lander E.S.;
RT   "DNA sequence and analysis of human chromosome 8.";
RL   Nature 439:331-335(2006).
RN   [4]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
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: Has antimicrobial activity against E.coli (By similarity).
CC       Plays a role in the defense response in the male reproductive tract,
CC       contributing to sperm maturation, storage and protection (By
CC       similarity). {ECO:0000250|UniProtKB:Q8VBV2}.
CC   -!- SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
CC   -!- ALTERNATIVE PRODUCTS:
CC       Event=Alternative splicing; Named isoforms=4;
CC       Name=1; Synonyms=HE2 alpha1;
CC         IsoId=Q6PDA7-1; Sequence=Displayed;
CC       Name=2; Synonyms=EP2G, HE2 beta2;
CC         IsoId=Q6PDA7-2; Sequence=VSP_030220;
CC       Name=3; Synonyms=EP2H, HE2 gamma1;
CC         IsoId=Q6PDA7-3; Sequence=VSP_030221;
CC       Name=4; Synonyms=EP2I, HE2 gamma2;
CC         IsoId=Q6PDA7-4; Sequence=VSP_030222, VSP_030223;
CC   -!- SIMILARITY: Belongs to the SPAG11 family. {ECO:0000305}.
CC   -!- SEQUENCE CAUTION:
CC       Sequence=AC130365; Type=Erroneous termination; Note=Truncated C-terminus.; Evidence={ECO:0000305};
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DR   EMBL; AF168618; AAF37188.1; -; mRNA.
DR   EMBL; AF168619; AAF37189.1; -; mRNA.
DR   EMBL; AF168620; AAF37190.1; -; mRNA.
DR   EMBL; AF170797; AAF37191.1; -; mRNA.
DR   EMBL; AY005129; AAG21884.1; -; Genomic_DNA.
DR   EMBL; AY005129; AAG21885.1; -; Genomic_DNA.
DR   EMBL; AY005129; AAG21886.1; -; Genomic_DNA.
DR   EMBL; AC130365; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; BC058833; AAH58833.2; -; mRNA.
DR   CCDS; CCDS43700.1; -. [Q6PDA7-2]
DR   RefSeq; NP_001075021.2; NM_001081552.2.
DR   RefSeq; NP_478109.1; NM_058202.2. [Q6PDA7-3]
DR   AlphaFoldDB; Q6PDA7; -.
DR   BioGRID; 115678; 3.
DR   BioGRID; 575769; 43.
DR   STRING; 9606.ENSP00000316012; -.
DR   GlyGen; Q6PDA7; 1 site.
DR   BioMuta; SPAG11A; -.
DR   DMDM; 166219773; -.
DR   MassIVE; Q6PDA7; -.
DR   PaxDb; Q6PDA7; -.
DR   PeptideAtlas; Q6PDA7; -.
DR   PRIDE; Q6PDA7; -.
DR   ProteomicsDB; 19035; -.
DR   Antibodypedia; 41785; 76 antibodies from 17 providers.
DR   DNASU; 10407; -.
DR   Ensembl; ENST00000351436.8; ENSP00000297496.5; ENSG00000178287.18. [Q6PDA7-3]
DR   GeneID; 10407; -.
DR   GeneID; 653423; -.
DR   KEGG; hsa:653423; -.
DR   UCSC; uc064kbl.1; human. [Q6PDA7-1]
DR   CTD; 10407; -.
DR   CTD; 653423; -.
DR   DisGeNET; 10407; -.
DR   DisGeNET; 653423; -.
DR   GeneCards; SPAG11A; -.
DR   HGNC; HGNC:33342; SPAG11A.
DR   HPA; ENSG00000178287; Tissue enriched (epididymis).
DR   MIM; 606560; gene.
DR   neXtProt; NX_Q6PDA7; -.
DR   OpenTargets; ENSG00000178287; -.
DR   PharmGKB; PA162404366; -.
DR   VEuPathDB; HostDB:ENSG00000178287; -.
DR   eggNOG; ENOG502TDV0; Eukaryota.
DR   GeneTree; ENSGT00940000161432; -.
DR   InParanoid; Q6PDA7; -.
DR   OrthoDB; 1274696at2759; -.
DR   PhylomeDB; Q6PDA7; -.
DR   TreeFam; TF338214; -.
DR   PathwayCommons; Q6PDA7; -.
DR   BioGRID-ORCS; 10407; 15 hits in 975 CRISPR screens.
DR   BioGRID-ORCS; 653423; 8 hits in 623 CRISPR screens.
DR   ChiTaRS; SPAG11A; human.
DR   Pharos; Q6PDA7; Tbio.
DR   PRO; PR:Q6PDA7; -.
DR   Proteomes; UP000005640; Chromosome 8.
DR   RNAct; Q6PDA7; protein.
DR   Bgee; ENSG00000178287; Expressed in lower esophagus mucosa and 42 other tissues.
DR   ExpressionAtlas; Q6PDA7; baseline and differential.
DR   Genevisible; Q6PDA7; HS.
DR   GO; GO:0005576; C:extracellular region; IEA:UniProtKB-SubCell.
DR   GO; GO:0061844; P:antimicrobial humoral immune response mediated by antimicrobial peptide; IBA:GO_Central.
DR   GO; GO:0042742; P:defense response to bacterium; IEA:UniProtKB-KW.
DR   InterPro; IPR007988; Sperm_Ag_11A_B.
DR   PANTHER; PTHR14081; PTHR14081; 1.
DR   Pfam; PF05324; Sperm_Ag_HE2; 1.
PE   2: Evidence at transcript level;
KW   Alternative splicing; Antibiotic; Antimicrobial; Defensin; Glycoprotein;
KW   Reference proteome; Secreted; Signal.
FT   SIGNAL          1..25
FT                   /evidence="ECO:0000255"
FT   CHAIN           26..123
FT                   /note="Sperm-associated antigen 11A"
FT                   /id="PRO_0000314165"
FT   CARBOHYD        29
FT                   /note="N-linked (GlcNAc...) asparagine"
FT                   /evidence="ECO:0000255"
FT   VAR_SEQ         72..123
FT                   /note="VHISHQEARGPSFKICVGFLGPRWARGCSTGNEKYHLPYAARDLQTFFLPFW
FT                   -> GDVPLGIRNTICHMQQGICRLFFCHSGTGQQHRQRCG (in isoform 2)"
FT                   /evidence="ECO:0000303|PubMed:10698202"
FT                   /id="VSP_030220"
FT   VAR_SEQ         72..123
FT                   /note="VHISHQEARGPSFKICVGFLGPRWARGCSTGNEKYHLPYAARDLQTFFLPFW
FT                   -> GTGQQHRQRCG (in isoform 3)"
FT                   /evidence="ECO:0000303|PubMed:10698202"
FT                   /id="VSP_030221"
FT   VAR_SEQ         72..74
FT                   /note="VHI -> EMK (in isoform 4)"
FT                   /evidence="ECO:0000303|PubMed:10698202"
FT                   /id="VSP_030222"
FT   VAR_SEQ         75..123
FT                   /note="Missing (in isoform 4)"
FT                   /evidence="ECO:0000303|PubMed:10698202"
FT                   /id="VSP_030223"
FT   CONFLICT        60
FT                   /note="R -> W (in Ref. 4; AAH58833)"
FT                   /evidence="ECO:0000305"
FT   VARIANT         Q6PDA7-2:78
FT                   /note="I -> M (in dbSNP:rs3177011)"
FT                   /evidence="ECO:0000305"
FT                   /id="VAR_082918"
FT   CONFLICT        Q6PDA7-2:76
FT                   /note="L -> P (in Ref. 1; AAF37188 and 2; AAG21884)"
FT                   /evidence="ECO:0000305"
FT   CONFLICT        Q6PDA7-2:84
FT                   /note="H -> R (in Ref. 1; AAF37188 and 2; AAG21884)"
FT                   /evidence="ECO:0000305"
SQ   SEQUENCE   123 AA;  13842 MW;  8B500B9E045C0EFB CRC64;
     MRQRLLPSVT SLLLVALLFP GSSQARHVNH SATEALGELR ERAPGQGTNG FQLLRHAVKR
     DLLPPRTPPY QVHISHQEAR GPSFKICVGF LGPRWARGCS TGNEKYHLPY AARDLQTFFL
     PFW
 
 
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