LOCUS NP_001139267 756 aa linear PRI 21-AUG-2023
DEFINITION SH2B adapter protein 1 isoform 1 [Homo sapiens].
ACCESSION NP_001139267
VERSION NP_001139267.1
DBSOURCE REFSEQ: accession NM_001145795.2
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 756)
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 756)
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 756)
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 756)
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 756)
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 756)
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 756)
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 756)
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 756)
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 756)
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 DA490578.1, AK055104.1,
AK297080.1 and AF227967.1.
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 :: AF227967.1, SRR14372079.1797318.1
[ECO:0000332]
RNAseq introns :: single sample supports all introns
SAMEA1966682, SAMEA1968968
[ECO:0000348]
##Evidence-Data-END##
FEATURES Location/Qualifiers
source 1..756
/organism="Homo sapiens"
/db_xref="taxon:9606"
/chromosome="16"
/map="16p11.2"
Protein 1..756
/product="SH2B adapter protein 1 isoform 1"
/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=79236
Region 1..555
/region_name="Interaction with JAK2 (low-affinity binding,
independent of JAK2 phosphorylation).
/evidence=ECO:0000250"
/note="propagated from UniProtKB/Swiss-Prot (Q9NRF2.3)"
Region 1..27
/region_name="Disordered.
/evidence=ECO:0000256|SAM:MobiDB-lite"
/note="propagated from UniProtKB/Swiss-Prot (Q9NRF2.3)"
Region 24..85
/region_name="Required for self-association"
/note="propagated from UniProtKB/Swiss-Prot (Q9NRF2.3)"
Region 26..81
/region_name="Phe_ZIP"
/note="Phenylalanine zipper; pfam08916"
/db_xref="CDD:430314"
Region 85..196
/region_name="Interaction with RAC1.
/evidence=ECO:0000250"
/note="propagated from UniProtKB/Swiss-Prot (Q9NRF2.3)"
Site 88
/site_type="phosphorylation"
/note="Phosphoserine.
/evidence=ECO:0000250|UniProtKB:Q91ZM2; propagated from
UniProtKB/Swiss-Prot (Q9NRF2.3)"
Site 96
/site_type="phosphorylation"
/note="Phosphoserine.
/evidence=ECO:0007744|PubMed:18220336,
ECO:0007744|PubMed:18669648; propagated from
UniProtKB/Swiss-Prot (Q9NRF2.3)"
Region 100..243
/region_name="Required for NGF signaling.
/evidence=ECO:0000250"
/note="propagated from UniProtKB/Swiss-Prot (Q9NRF2.3)"
Region 123..154
/region_name="Disordered.
/evidence=ECO:0000256|SAM:MobiDB-lite"
/note="propagated from UniProtKB/Swiss-Prot (Q9NRF2.3)"
Region 169..222
/region_name="Disordered.
/evidence=ECO:0000256|SAM:MobiDB-lite"
/note="propagated from UniProtKB/Swiss-Prot (Q9NRF2.3)"
Region 224..233
/region_name="Required for nuclear localization.
/evidence=ECO:0000250"
/note="propagated from UniProtKB/Swiss-Prot (Q9NRF2.3)"
Region 246..378
/region_name="PH_SH2B_family"
/note="SH2B adapter protein 1, 2, and 3 Pleckstrin
homology (PH) domain; cd01231"
/db_xref="CDD:269938"
Region 263..286
/region_name="Disordered.
/evidence=ECO:0000256|SAM:MobiDB-lite"
/note="propagated from UniProtKB/Swiss-Prot (Q9NRF2.3)"
Site 270
/site_type="methylation"
/note="Omega-N-methylarginine.
/evidence=ECO:0007744|PubMed:24129315; propagated from
UniProtKB/Swiss-Prot (Q9NRF2.3)"
Site 417
/site_type="phosphorylation"
/note="Phosphoserine.
/evidence=ECO:0000250|UniProtKB:Q91ZM2; propagated from
UniProtKB/Swiss-Prot (Q9NRF2.3)"
Region 420..455
/region_name="Disordered.
/evidence=ECO:0000256|SAM:MobiDB-lite"
/note="propagated from UniProtKB/Swiss-Prot (Q9NRF2.3)"
Site 420
/site_type="phosphorylation"
/note="Phosphoserine.
/evidence=ECO:0000250|UniProtKB:Q91ZM2; propagated from
UniProtKB/Swiss-Prot (Q9NRF2.3)"
Site 439
/site_type="phosphorylation"
/note="Phosphotyrosine, by JAK1, JAK2 and PDGFR.
/evidence=ECO:0000250|UniProtKB:Q62985; propagated from
UniProtKB/Swiss-Prot (Q9NRF2.3)"
Region 468..491
/region_name="Disordered.
/evidence=ECO:0000256|SAM:MobiDB-lite"
/note="propagated from UniProtKB/Swiss-Prot (Q9NRF2.3)"
Site 494
/site_type="phosphorylation"
/note="Phosphotyrosine, by JAK1, JAK2.
/evidence=ECO:0000250|UniProtKB:Q62985; propagated from
UniProtKB/Swiss-Prot (Q9NRF2.3)"
Region 518..614
/region_name="SH2_SH2B_family"
/note="Src homology 2 (SH2) domain found in SH2B adapter
protein family; cd10346"
/db_xref="CDD:198209"
Site order(534,555,576,578)
/site_type="other"
/note="phosphotyrosine binding pocket [polypeptide
binding]"
/db_xref="CDD:198209"
Site order(577,604)
/site_type="other"
/note="hydrophobic binding pocket [polypeptide binding]"
/db_xref="CDD:198209"
Region 626..688
/region_name="Disordered.
/evidence=ECO:0000256|SAM:MobiDB-lite"
/note="propagated from UniProtKB/Swiss-Prot (Q9NRF2.3)"
Region 709..756
/region_name="Disordered.
/evidence=ECO:0000256|SAM:MobiDB-lite"
/note="propagated from UniProtKB/Swiss-Prot (Q9NRF2.3)"
CDS 1..756
/gene="SH2B1"
/gene_synonym="PSM; SH2B"
/coded_by="NM_001145795.2:187..2457"
/note="isoform 1 is encoded by transcript variant 1"
/db_xref="CCDS:CCDS53996.1"
/db_xref="GeneID:25970"
/db_xref="HGNC:HGNC:30417"
/db_xref="MIM:608937"
ORIGIN
1 mngapspedg aspsspplpp ppppswrefc esharaaald farrfrlyla shpqyagpga
61 eaafsrrfae lflqhfeaev arasgslspp ilaplspgae isphdlsles crvggplavl
121 gpsrssedla gplpssvsss sttsskpklk krfslrsvgr svrgsvrgil qwrgtvdpps
181 sagpletssg ppvlggnsns nssggagtvg rglvsdgtsp gerwthrfer lrlsrgggal
241 kdgagmvqre ellsfmgaee aapdpagvgr gggvagppsg gggqpqwqkc rlllrsegeg
301 gggsrleffv ppkasrprls ipcssitdvr tttalempdr entfvvkveg pseyimetvd
361 aqhvkawvsd iqeclspgpc patsprpmtl plapgtsflt rentdslels clnhseslps
421 qdlllgpses ndrlsqgayg glsdrpsasi spssasiaas hfdsmellpp elppripiee
481 gpptgtvhpl sapyppldtp etatgsflfq gepeggegdq plsgypwfhg mlsrlkaaql
541 vltggtgshg vflvrqsetr rgeyvltfnf qgkakhlrls lneegqcrvq hlwfqsifdm
601 lehfrvhpip lesggssdvv lvsyvpssqr qqepttshdp pqppeppswt dppqpgaeea
661 srapevaaaa aaaakerqek ekaggggvpe elvpvvelvp vveleeaiap gseaqgagsg
721 gdagvppmvq lqqsplggdg eegghprain nqysfv
//
