LOCUS NP_001295223 335 aa linear PRI 21-AUG-2023
DEFINITION SH2B adapter protein 1 isoform 4 [Homo sapiens].
ACCESSION NP_001295223 XP_005255297
VERSION NP_001295223.1
DBSOURCE REFSEQ: accession NM_001308294.2
KEYWORDS RefSeq.
SOURCE Homo sapiens (human)
ORGANISM Homo sapiens
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
REFERENCE 1 (residues 1 to 335)
AUTHORS Hanssen R, Auwerx C, Joeloo M, Sadler MC, Henning E, Keogh J,
Bounds R, Smith M, Firth HV, Kutalik Z, Farooqi IS, Reymond A and
Lawler K.
CONSRTM Estonian Biobank Research Team
TITLE Chromosomal deletions on 16p11.2 encompassing SH2B1 are associated
with accelerated metabolic disease
JOURNAL Cell Rep Med 4 (8), 101155 (2023)
PUBMED 37586323
REMARK GeneRIF: Chromosomal deletions on 16p11.2 encompassing SH2B1 are
associated with accelerated metabolic disease.
REFERENCE 2 (residues 1 to 335)
AUTHORS da Fonseca ACP, Assis ISS, Salum KCR, Palhinha L, Abreu GM,
Zembrzuski VM, Campos Junior M, Nogueira Neto JF, Mattos FCC,
Cambraia A, Rosado EL, Maya-Monteiro CM, Cabello PH, Carneiro JRI
and Bozza PT.
TITLE SH2B1 variants as potential causes of non-syndromic monogenic
obesity in a Brazilian cohort
JOURNAL Eat Weight Disord 27 (8), 3665-3674 (2022)
PUBMED 36436143
REMARK GeneRIF: SH2B1 variants as potential causes of non-syndromic
monogenic obesity in a Brazilian cohort.
REFERENCE 3 (residues 1 to 335)
AUTHORS Giannopoulou EZ, Zorn S, Schirmer M, Herrmann G, Heger S, Reinehr
T, Denzer C, Rabenstein H, Hillmer M, Sowada N, Siebert R, von
Schnurbein J and Wabitsch M.
TITLE Genetic Obesity in Children: Overview of Possible Diagnoses with a
Focus on SH2B1 Deletion
JOURNAL Horm Res Paediatr 95 (2), 137-148 (2022)
PUBMED 34689140
REMARK GeneRIF: Genetic Obesity in Children: Overview of Possible
Diagnoses with a Focus on SH2B1 Deletion.
REFERENCE 4 (residues 1 to 335)
AUTHORS Perez-Diaz-Del-Campo N, Abete I, Cantero I, Marin-Alejandre BA,
Monreal JI, Elorz M, Herrero JI, Benito-Boillos A, Riezu-Boj JI,
Milagro FI, Tur JA, Martinez JA and Zulet MA.
TITLE Association of the SH2B1 rs7359397 Gene Polymorphism with Steatosis
Severity in Subjects with Obesity and Non-Alcoholic Fatty Liver
Disease
JOURNAL Nutrients 12 (5), 1260 (2020)
PUBMED 32365683
REMARK GeneRIF: Association of the SH2B1 rs7359397 Gene Polymorphism with
Steatosis Severity in Subjects with Obesity and Non-Alcoholic Fatty
Liver Disease.
Publication Status: Online-Only
REFERENCE 5 (residues 1 to 335)
AUTHORS Wu B, Ren A, Tian Y and Huang R.
TITLE Hsa_circ_0075960 Serves as a Sponge for miR-361-3p/SH2B1 in
Endometrial Carcinoma
JOURNAL Technol Cancer Res Treat 19, 1533033820983079 (2020)
PUBMED 33356989
REMARK GeneRIF: Hsa_circ_0075960 Serves as a Sponge for miR-361-3p/SH2B1
in Endometrial Carcinoma.
REFERENCE 6 (residues 1 to 335)
AUTHORS Jamshidi Y, Snieder H, Ge D, Spector TD and O'Dell SD.
TITLE The SH2B gene is associated with serum leptin and body fat in
normal female twins
JOURNAL Obesity (Silver Spring) 15 (1), 5-9 (2007)
PUBMED 17228025
REMARK GeneRIF: Observational study of gene-disease association. (HuGE
Navigator)
REFERENCE 7 (residues 1 to 335)
AUTHORS Jones RB, Gordus A, Krall JA and MacBeath G.
TITLE A quantitative protein interaction network for the ErbB receptors
using protein microarrays
JOURNAL Nature 439 (7073), 168-174 (2006)
PUBMED 16273093
REFERENCE 8 (residues 1 to 335)
AUTHORS Nishi M, Werner ED, Oh BC, Frantz JD, Dhe-Paganon S, Hansen L, Lee
J and Shoelson SE.
TITLE Kinase activation through dimerization by human SH2-B
JOURNAL Mol Cell Biol 25 (7), 2607-2621 (2005)
PUBMED 15767667
REMARK GeneRIF: SH2-B or APS homodimerization and SH2-B/APS
heterodimerization thus provide direct mechanisms for activating
and inhibiting Janus kinase 2
REFERENCE 9 (residues 1 to 335)
AUTHORS Kong M, Wang CS and Donoghue DJ.
TITLE Interaction of fibroblast growth factor receptor 3 and the adapter
protein SH2-B. A role in STAT5 activation
JOURNAL J Biol Chem 277 (18), 15962-15970 (2002)
PUBMED 11827956
REFERENCE 10 (residues 1 to 335)
AUTHORS Kotani K, Wilden P and Pillay TS.
TITLE SH2-Balpha is an insulin-receptor adapter protein and substrate
that interacts with the activation loop of the insulin-receptor
kinase
JOURNAL Biochem J 335 (Pt 1) (Pt 1), 103-109 (1998)
PUBMED 9742218
COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from AK297080.1 and BC010704.1.
On Apr 28, 2015 this sequence version replaced XP_005255297.1.
Summary: This gene encodes a member of the SH2-domain containing
mediators family. The encoded protein mediates activation of
various kinases and may function in cytokine and growth factor
receptor signaling and cellular transformation. Alternatively
spliced transcript variants have been described. [provided by
RefSeq, Mar 2009].
Publication Note: This RefSeq record includes a subset of the
publications that are available for this gene. Please see the Gene
record to access additional publications.
##Evidence-Data-START##
Transcript exon combination :: AK297080.1, SRR14038196.1300650.1
[ECO:0000332]
RNAseq introns :: single sample supports all introns
SAMEA1968832, SAMEA1968968
[ECO:0000348]
##Evidence-Data-END##
FEATURES Location/Qualifiers
source 1..335
/organism="Homo sapiens"
/db_xref="taxon:9606"
/chromosome="16"
/map="16p11.2"
Protein 1..335
/product="SH2B adapter protein 1 isoform 4"
/note="SH2 domain-containing protein 1B; pro-rich, PH and
SH2 domain-containing signaling mediator; SH2-B signaling
protein; SH2 domain-containing putative adapter SH2-B"
/calculated_mol_wt=35967
Region <1..42
/region_name="PH-like"
/note="Pleckstrin homology-like domain; cl17171"
/db_xref="CDD:450165"
Region 182..278
/region_name="SH2_SH2B_family"
/note="Src homology 2 (SH2) domain found in SH2B adapter
protein family; cd10346"
/db_xref="CDD:198209"
Site order(198,219,240,242)
/site_type="other"
/note="phosphotyrosine binding pocket [polypeptide
binding]"
/db_xref="CDD:198209"
Site order(241,268)
/site_type="other"
/note="hydrophobic binding pocket [polypeptide binding]"
/db_xref="CDD:198209"
CDS 1..335
/gene="SH2B1"
/gene_synonym="PSM; SH2B"
/coded_by="NM_001308294.2:130..1137"
/note="isoform 4 is encoded by transcript variant 7"
/db_xref="CCDS:CCDS76851.1"
/db_xref="GeneID:25970"
/db_xref="HGNC:HGNC:30417"
/db_xref="MIM:608937"
ORIGIN
1 mpdrentfvv kvegpseyim etvdaqhvka wvsdiqecls pgpcpatspr pmtlplapgt
61 sfltrentds lelsclnhse slpsqdlllg psesndrlsq gaygglsdrp sasispssas
121 iaashfdsme llppelppri pieegpptgt vhplsapypp ldtpetatgs flfqgepegg
181 egdqplsgyp wfhgmlsrlk aaqlvltggt gshgvflvrq setrrgeyvl tfnfqgkakh
241 lrlslneegq crvqhlwfqs ifdmlehfrv hpiplesggs sdvvlvsyvp ssqrqqgreq
301 agshagvceg dgchpdasct lmpfgasdcv tdhlp
//
