SHLB2_HUMAN
ID SHLB2_HUMAN Reviewed; 395 AA.
AC Q9NR46; A6NC47; A8MPS4; Q8WY61; Q96JH9;
DT 16-JAN-2004, integrated into UniProtKB/Swiss-Prot.
DT 01-OCT-2000, sequence version 1.
DT 03-AUG-2022, entry version 179.
DE RecName: Full=Endophilin-B2;
DE AltName: Full=SH3 domain-containing GRB2-like protein B2;
GN Name=SH3GLB2; Synonyms=KIAA1848; ORFNames=PP578;
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), TISSUE SPECIFICITY, SUBCELLULAR
RP LOCATION, HOMODIMERIZATION, AND INTERACTION WITH SH3GLB1.
RC TISSUE=Adipocyte, and Skeletal muscle;
RX PubMed=11161816; DOI=10.1006/geno.2000.6378;
RA Pierrat B., Simonen M., Cueto M., Mestan J., Ferrigno P., Heim J.;
RT "SH3GLB, a new endophilin-related protein family featuring an SH3 domain.";
RL Genomics 71:222-234(2001).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Brain;
RX PubMed=11347906; DOI=10.1093/dnares/8.2.85;
RA Nagase T., Nakayama M., Nakajima D., Kikuno R., Ohara O.;
RT "Prediction of the coding sequences of unidentified human genes. XX. The
RT complete sequences of 100 new cDNA clones from brain which code for large
RT proteins in vitro.";
RL DNA Res. 8:85-95(2001).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RX PubMed=15498874; DOI=10.1073/pnas.0404089101;
RA Wan D., Gong Y., Qin W., Zhang P., Li J., Wei L., Zhou X., Li H., Qiu X.,
RA Zhong F., He L., Yu J., Yao G., Jiang H., Qian L., Yu Y., Shu H., Chen X.,
RA Xu H., Guo M., Pan Z., Chen Y., Ge C., Yang S., Gu J.;
RT "Large-scale cDNA transfection screening for genes related to cancer
RT development and progression.";
RL Proc. Natl. Acad. Sci. U.S.A. 101:15724-15729(2004).
RN [4]
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 [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Lymph;
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 [6]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=21269460; DOI=10.1186/1752-0509-5-17;
RA Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T.,
RA Bennett K.L., Superti-Furga G., Colinge J.;
RT "Initial characterization of the human central proteome.";
RL BMC Syst. Biol. 5:17-17(2011).
RN [7]
RP ACETYLATION [LARGE SCALE ANALYSIS] AT MET-1, AND IDENTIFICATION BY MASS
RP SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=22814378; DOI=10.1073/pnas.1210303109;
RA Van Damme P., Lasa M., Polevoda B., Gazquez C., Elosegui-Artola A.,
RA Kim D.S., De Juan-Pardo E., Demeyer K., Hole K., Larrea E., Timmerman E.,
RA Prieto J., Arnesen T., Sherman F., Gevaert K., Aldabe R.;
RT "N-terminal acetylome analyses and functional insights of the N-terminal
RT acetyltransferase NatB.";
RL Proc. Natl. Acad. Sci. U.S.A. 109:12449-12454(2012).
RN [8]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-10, AND IDENTIFICATION BY
RP MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Erythroleukemia;
RX PubMed=23186163; DOI=10.1021/pr300630k;
RA Zhou H., Di Palma S., Preisinger C., Peng M., Polat A.N., Heck A.J.,
RA Mohammed S.;
RT "Toward a comprehensive characterization of a human cancer cell
RT phosphoproteome.";
RL J. Proteome Res. 12:260-271(2013).
CC -!- SUBUNIT: Homodimer, and heterodimer with SH3GLB1.
CC -!- INTERACTION:
CC Q9NR46; P55212: CASP6; NbExp=3; IntAct=EBI-749607, EBI-718729;
CC Q9NR46; Q5JVL4: EFHC1; NbExp=3; IntAct=EBI-749607, EBI-743105;
CC Q9NR46; O43464: HTRA2; NbExp=3; IntAct=EBI-749607, EBI-517086;
CC Q9NR46; P42858: HTT; NbExp=3; IntAct=EBI-749607, EBI-466029;
CC Q9NR46; P60410: KRTAP10-8; NbExp=3; IntAct=EBI-749607, EBI-10171774;
CC Q9NR46; Q9BYR2: KRTAP4-5; NbExp=3; IntAct=EBI-749607, EBI-11993254;
CC Q9NR46; Q6L8G4: KRTAP5-11; NbExp=3; IntAct=EBI-749607, EBI-11993296;
CC Q9NR46; Q9BYQ3: KRTAP9-3; NbExp=3; IntAct=EBI-749607, EBI-1043191;
CC Q9NR46; P13473-2: LAMP2; NbExp=3; IntAct=EBI-749607, EBI-21591415;
CC Q9NR46; Q8TCE9: LGALS14; NbExp=3; IntAct=EBI-749607, EBI-10274069;
CC Q9NR46; P43355: MAGEA1; NbExp=3; IntAct=EBI-749607, EBI-740978;
CC Q9NR46; Q96HA8: NTAQ1; NbExp=3; IntAct=EBI-749607, EBI-741158;
CC Q9NR46; Q9UBU9: NXF1; NbExp=3; IntAct=EBI-749607, EBI-398874;
CC Q9NR46; Q9NRD5: PICK1; NbExp=3; IntAct=EBI-749607, EBI-79165;
CC Q9NR46; Q9Y371: SH3GLB1; NbExp=20; IntAct=EBI-749607, EBI-2623095;
CC Q9NR46; Q9NR46: SH3GLB2; NbExp=3; IntAct=EBI-749607, EBI-749607;
CC Q9NR46; Q9P0N9: TBC1D7; NbExp=3; IntAct=EBI-749607, EBI-3258000;
CC Q9NR46; P07947: YES1; NbExp=3; IntAct=EBI-749607, EBI-515331;
CC -!- SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:11161816}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q9NR46-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q9NR46-2; Sequence=VSP_009278, VSP_009279;
CC -!- TISSUE SPECIFICITY: Detected in skeletal muscle, adipocyte, brain,
CC lung, colon and mammary gland. {ECO:0000269|PubMed:11161816}.
CC -!- SIMILARITY: Belongs to the endophilin family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAG23792.1; Type=Frameshift; Evidence={ECO:0000305};
CC Sequence=BAB47477.2; Type=Erroneous initiation; Evidence={ECO:0000305};
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DR EMBL; AF257319; AAF81226.1; -; mRNA.
DR EMBL; AB058751; BAB47477.2; ALT_INIT; mRNA.
DR EMBL; AF258589; AAG23792.1; ALT_FRAME; mRNA.
DR EMBL; AL592211; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC014635; AAH14635.1; -; mRNA.
DR CCDS; CCDS6916.1; -. [Q9NR46-1]
DR CCDS; CCDS69680.1; -. [Q9NR46-2]
DR RefSeq; NP_001273974.1; NM_001287045.1. [Q9NR46-2]
DR RefSeq; NP_001273975.1; NM_001287046.1. [Q9NR46-1]
DR RefSeq; NP_064530.1; NM_020145.3. [Q9NR46-1]
DR RefSeq; XP_005252158.1; XM_005252101.3.
DR AlphaFoldDB; Q9NR46; -.
DR SMR; Q9NR46; -.
DR BioGRID; 121234; 84.
DR IntAct; Q9NR46; 46.
DR MINT; Q9NR46; -.
DR STRING; 9606.ENSP00000361634; -.
DR GlyGen; Q9NR46; 1 site, 1 O-linked glycan (1 site).
DR iPTMnet; Q9NR46; -.
DR PhosphoSitePlus; Q9NR46; -.
DR BioMuta; SH3GLB2; -.
DR DMDM; 41018150; -.
DR EPD; Q9NR46; -.
DR jPOST; Q9NR46; -.
DR MassIVE; Q9NR46; -.
DR MaxQB; Q9NR46; -.
DR PaxDb; Q9NR46; -.
DR PeptideAtlas; Q9NR46; -.
DR PRIDE; Q9NR46; -.
DR ProteomicsDB; 82271; -. [Q9NR46-1]
DR ProteomicsDB; 82272; -. [Q9NR46-2]
DR TopDownProteomics; Q9NR46-1; -. [Q9NR46-1]
DR ABCD; Q9NR46; 1 sequenced antibody.
DR Antibodypedia; 17774; 149 antibodies from 24 providers.
DR DNASU; 56904; -.
DR Ensembl; ENST00000372554.8; ENSP00000361634.4; ENSG00000148341.18. [Q9NR46-2]
DR Ensembl; ENST00000372559.5; ENSP00000361640.1; ENSG00000148341.18. [Q9NR46-1]
DR Ensembl; ENST00000372564.8; ENSP00000361645.3; ENSG00000148341.18. [Q9NR46-1]
DR GeneID; 56904; -.
DR KEGG; hsa:56904; -.
DR MANE-Select; ENST00000372564.8; ENSP00000361645.3; NM_020145.4; NP_064530.1.
DR UCSC; uc004bwv.5; human. [Q9NR46-1]
DR CTD; 56904; -.
DR DisGeNET; 56904; -.
DR GeneCards; SH3GLB2; -.
DR HGNC; HGNC:10834; SH3GLB2.
DR HPA; ENSG00000148341; Low tissue specificity.
DR MIM; 609288; gene.
DR neXtProt; NX_Q9NR46; -.
DR OpenTargets; ENSG00000148341; -.
DR PharmGKB; PA35740; -.
DR VEuPathDB; HostDB:ENSG00000148341; -.
DR eggNOG; KOG3725; Eukaryota.
DR GeneTree; ENSGT00940000155841; -.
DR InParanoid; Q9NR46; -.
DR OMA; TMSFRGS; -.
DR OrthoDB; 803053at2759; -.
DR PhylomeDB; Q9NR46; -.
DR TreeFam; TF313281; -.
DR PathwayCommons; Q9NR46; -.
DR SignaLink; Q9NR46; -.
DR SIGNOR; Q9NR46; -.
DR BioGRID-ORCS; 56904; 6 hits in 1079 CRISPR screens.
DR ChiTaRS; SH3GLB2; human.
DR GeneWiki; SH3GLB2; -.
DR GenomeRNAi; 56904; -.
DR Pharos; Q9NR46; Tbio.
DR PRO; PR:Q9NR46; -.
DR Proteomes; UP000005640; Chromosome 9.
DR RNAct; Q9NR46; protein.
DR Bgee; ENSG00000148341; Expressed in adenohypophysis and 177 other tissues.
DR ExpressionAtlas; Q9NR46; baseline and differential.
DR Genevisible; Q9NR46; HS.
DR GO; GO:0005737; C:cytoplasm; IDA:HGNC-UCL.
DR GO; GO:0005829; C:cytosol; IDA:HPA.
DR GO; GO:0016020; C:membrane; IBA:GO_Central.
DR GO; GO:0005654; C:nucleoplasm; IDA:HPA.
DR GO; GO:0045296; F:cadherin binding; HDA:BHF-UCL.
DR GO; GO:0042802; F:identical protein binding; IPI:IntAct.
DR GO; GO:0061024; P:membrane organization; IBA:GO_Central.
DR CDD; cd11944; SH3_Endophilin_B2; 1.
DR Gene3D; 1.20.1270.60; -; 1.
DR InterPro; IPR027267; AH/BAR_dom_sf.
DR InterPro; IPR004148; BAR_dom.
DR InterPro; IPR035640; Endophilin_B2_SH3.
DR InterPro; IPR036028; SH3-like_dom_sf.
DR InterPro; IPR001452; SH3_domain.
DR Pfam; PF03114; BAR; 1.
DR Pfam; PF14604; SH3_9; 1.
DR SMART; SM00721; BAR; 1.
DR SMART; SM00326; SH3; 1.
DR SUPFAM; SSF103657; SSF103657; 1.
DR SUPFAM; SSF50044; SSF50044; 1.
DR PROSITE; PS51021; BAR; 1.
DR PROSITE; PS50002; SH3; 1.
PE 1: Evidence at protein level;
KW Acetylation; Alternative splicing; Coiled coil; Cytoplasm; Phosphoprotein;
KW Reference proteome; SH3 domain.
FT CHAIN 1..395
FT /note="Endophilin-B2"
FT /id="PRO_0000146755"
FT DOMAIN 24..287
FT /note="BAR"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00361"
FT DOMAIN 335..395
FT /note="SH3"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00192"
FT REGION 1..27
FT /note="Membrane-binding amphipathic helix"
FT /evidence="ECO:0000250"
FT COILED 116..132
FT /evidence="ECO:0000255"
FT COILED 206..240
FT /evidence="ECO:0000255"
FT MOD_RES 1
FT /note="N-acetylmethionine"
FT /evidence="ECO:0007744|PubMed:22814378"
FT MOD_RES 10
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT MOD_RES 395
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q5PPJ9"
FT VAR_SEQ 187
FT /note="T -> TCEGD (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:11347906"
FT /id="VSP_009278"
FT VAR_SEQ 280
FT /note="R -> SSQGAI (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:11347906"
FT /id="VSP_009279"
FT VARIANT 305
FT /note="A -> V (in dbSNP:rs17455482)"
FT /id="VAR_053078"
FT VARIANT 319
FT /note="P -> L (in dbSNP:rs17455475)"
FT /id="VAR_053079"
SQ SEQUENCE 395 AA; 43974 MW; 5549631DB2EB7CAA CRC64;
MDFNMKKLAS DAGIFFTRAV QFTEEKFGQA EKTELDAHFE NLLARADSTK NWTEKILRQT
EVLLQPNPSA RVEEFLYEKL DRKVPSRVTN GELLAQYMAD AASELGPTTP YGKTLIKVAE
AEKQLGAAER DFIHTASISF LTPLRNFLEG DWKTISKERR LLQNRRLDLD ACKARLKKAK
AAEAKATTVP DFQETRPRNY ILSASASALW NDEVDKAEQE LRVAQTEFDR QAEVTRLLLE
GISSTHVNHL RCLHEFVKSQ TTYYAQCYRH MLDLQKQLGR FPGTFVGTTE PASPPLSSTS
PTTAAATMPV VPSVASLAPP GEASLCLEEV APPASGTRKA RVLYDYEAAD SSELALLADE
LITVYSLPGM DPDWLIGERG NKKGKVPVTY LELLS
