SH3BG_HUMAN
ID SH3BG_HUMAN Reviewed; 239 AA.
AC P55822; A6ND59; D3DSI2; Q9BRB8;
DT 01-NOV-1997, integrated into UniProtKB/Swiss-Prot.
DT 25-NOV-2008, sequence version 3.
DT 03-AUG-2022, entry version 171.
DE RecName: Full=SH3 domain-binding glutamic acid-rich protein;
DE Short=SH3BGR protein;
DE AltName: Full=21-glutamic acid-rich protein;
DE Short=21-GARP;
GN Name=SH3BGR;
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] (ISOFORM 1).
RC TISSUE=Heart;
RX PubMed=9050928; DOI=10.1007/s004390050377;
RA Scartezzini P., Egeo A., Colella S., Fumagalli P., Arrigo P., Nizetic D.,
RA Taramelli R., Rasore-Quartino A.;
RT "Cloning a new human gene from chromosome 21q22.3 encoding a glutamic acid-
RT rich protein expressed in heart and skeletal muscle.";
RL Hum. Genet. 99:387-392(1997).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=10830953; DOI=10.1038/35012518;
RA Hattori M., Fujiyama A., Taylor T.D., Watanabe H., Yada T., Park H.-S.,
RA Toyoda A., Ishii K., Totoki Y., Choi D.-K., Groner Y., Soeda E., Ohki M.,
RA Takagi T., Sakaki Y., Taudien S., Blechschmidt K., Polley A., Menzel U.,
RA Delabar J., Kumpf K., Lehmann R., Patterson D., Reichwald K., Rump A.,
RA Schillhabel M., Schudy A., Zimmermann W., Rosenthal A., Kudoh J.,
RA Shibuya K., Kawasaki K., Asakawa S., Shintani A., Sasaki T., Nagamine K.,
RA Mitsuyama S., Antonarakis S.E., Minoshima S., Shimizu N., Nordsiek G.,
RA Hornischer K., Brandt P., Scharfe M., Schoen O., Desario A., Reichelt J.,
RA Kauer G., Bloecker H., Ramser J., Beck A., Klages S., Hennig S.,
RA Riesselmann L., Dagand E., Wehrmeyer S., Borzym K., Gardiner K.,
RA Nizetic D., Francis F., Lehrach H., Reinhardt R., Yaspo M.-L.;
RT "The DNA sequence of human chromosome 21.";
RL Nature 405:311-319(2000).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], AND VARIANT ASN-50.
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2), AND VARIANTS
RP GLU-23; ASN-50 AND ALA-188.
RC TISSUE=Leiomyosarcoma, and Muscle;
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 -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=P55822-1; Sequence=Displayed;
CC Name=2;
CC IsoId=P55822-2; Sequence=VSP_045788;
CC -!- TISSUE SPECIFICITY: Expressed in heart and skeletal muscle.
CC -!- SIMILARITY: Belongs to the SH3BGR family. {ECO:0000305}.
CC -!- CAUTION: It is uncertain whether Met-1 or Met-64 is the initiator.
CC {ECO:0000305}.
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DR EMBL; X93498; CAB57259.1; -; mRNA.
DR EMBL; AL163279; CAB90456.1; -; Genomic_DNA.
DR EMBL; AL163280; CAB90445.1; -; Genomic_DNA.
DR EMBL; AF121781; AAD12067.1; -; Genomic_DNA.
DR EMBL; AF121897; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471079; EAX09638.1; -; Genomic_DNA.
DR EMBL; CH471079; EAX09639.1; -; Genomic_DNA.
DR EMBL; CH471079; EAX09640.1; -; Genomic_DNA.
DR EMBL; BC006371; AAH06371.1; -; mRNA.
DR EMBL; BM474020; -; NOT_ANNOTATED_CDS; mRNA.
DR CCDS; CCDS33560.1; -. [P55822-2]
DR RefSeq; NP_001001713.1; NM_001001713.1. [P55822-2]
DR RefSeq; NP_001304671.1; NM_001317742.1. [P55822-2]
DR RefSeq; NP_031367.1; NM_007341.2.
DR AlphaFoldDB; P55822; -.
DR SMR; P55822; -.
DR BioGRID; 112348; 8.
DR IntAct; P55822; 5.
DR STRING; 9606.ENSP00000332513; -.
DR iPTMnet; P55822; -.
DR PhosphoSitePlus; P55822; -.
DR BioMuta; SH3BGR; -.
DR DMDM; 215274184; -.
DR EPD; P55822; -.
DR MassIVE; P55822; -.
DR MaxQB; P55822; -.
DR PaxDb; P55822; -.
DR PeptideAtlas; P55822; -.
DR PRIDE; P55822; -.
DR ProteomicsDB; 56872; -. [P55822-1]
DR ProteomicsDB; 883; -.
DR Antibodypedia; 23450; 196 antibodies from 28 providers.
DR DNASU; 6450; -.
DR Ensembl; ENST00000380631.5; ENSP00000370005.1; ENSG00000185437.15. [P55822-2]
DR Ensembl; ENST00000380634.5; ENSP00000370008.1; ENSG00000185437.15. [P55822-2]
DR Ensembl; ENST00000380637.7; ENSP00000370011.3; ENSG00000185437.15. [P55822-2]
DR GeneID; 6450; -.
DR KEGG; hsa:6450; -.
DR UCSC; uc002yxz.4; human. [P55822-1]
DR CTD; 6450; -.
DR DisGeNET; 6450; -.
DR GeneCards; SH3BGR; -.
DR HGNC; HGNC:10822; SH3BGR.
DR HPA; ENSG00000185437; Group enriched (skeletal muscle, tongue).
DR MIM; 602230; gene.
DR neXtProt; NX_P55822; -.
DR OpenTargets; ENSG00000185437; -.
DR PharmGKB; PA35730; -.
DR VEuPathDB; HostDB:ENSG00000185437; -.
DR eggNOG; KOG4023; Eukaryota.
DR GeneTree; ENSGT00940000159847; -.
DR HOGENOM; CLU_084862_0_1_1; -.
DR InParanoid; P55822; -.
DR OMA; VKMVIKV; -.
DR OrthoDB; 1508713at2759; -.
DR PhylomeDB; P55822; -.
DR TreeFam; TF105574; -.
DR PathwayCommons; P55822; -.
DR SignaLink; P55822; -.
DR BioGRID-ORCS; 6450; 8 hits in 1077 CRISPR screens.
DR GeneWiki; SH3BGR; -.
DR GenomeRNAi; 6450; -.
DR Pharos; P55822; Tbio.
DR PRO; PR:P55822; -.
DR Proteomes; UP000005640; Chromosome 21.
DR RNAct; P55822; protein.
DR Bgee; ENSG00000185437; Expressed in gastrocnemius and 96 other tissues.
DR ExpressionAtlas; P55822; baseline and differential.
DR Genevisible; P55822; HS.
DR GO; GO:0005829; C:cytosol; HDA:UniProtKB.
DR GO; GO:0017124; F:SH3 domain binding; IEA:UniProtKB-KW.
DR GO; GO:0065003; P:protein-containing complex assembly; TAS:ProtInc.
DR CDD; cd03030; GRX_SH3BGR; 1.
DR InterPro; IPR006993; Glut_rich_SH3-bd.
DR InterPro; IPR036249; Thioredoxin-like_sf.
DR Pfam; PF04908; SH3BGR; 1.
DR SUPFAM; SSF52833; SSF52833; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; Reference proteome; SH3-binding.
FT CHAIN 1..239
FT /note="SH3 domain-binding glutamic acid-rich protein"
FT /id="PRO_0000220743"
FT REGION 159..239
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOTIF 124..130
FT /note="SH3-binding"
FT /evidence="ECO:0000255"
FT COMPBIAS 167..199
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 200..239
FT /note="Acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 1..111
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_045788"
FT VARIANT 23
FT /note="D -> E (in dbSNP:rs11575939)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_057182"
FT VARIANT 50
FT /note="D -> N (in dbSNP:rs6517549)"
FT /evidence="ECO:0000269|PubMed:15489334, ECO:0000269|Ref.3"
FT /id="VAR_057183"
FT VARIANT 188
FT /note="V -> A (in dbSNP:rs9974333)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_028233"
FT CONFLICT 232
FT /note="E -> EE (in Ref. 4; BM474020)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 239 AA; 26086 MW; BA57B1C8034D6BBC CRC64;
MPLLLLGETE PLKLERDCRS PVDPWAAASP DLALACLCHC QDLSSGAFPD RGVLGGVLFP
TVEMVIKVFV ATSSGSIAIR KKQQEVVGFL EANKIDFKEL DIAGDEDNRR WMRENVPGEK
KPQNGIPLPP QIFNEEQYCG DFDSFFSAKE ENIIYSFLGL APPPDSKGSE KAEEGGETEA
QKEGSEDVGN LPEAQEKNEE EGETATEETE EIAMEGAEGE AEEEEETAEG EEPGEDEDS
