SH2B1

Protein-coding gene in the species Homo sapiens
SH2B1
Available structures
PDBOrtholog search: PDBe RCSB
List of PDB id codes

2HDV, 2HDX

Identifiers
AliasesSH2B1, PSM, SH2B, SH2B adaptor protein 1
External IDsOMIM: 608937; MGI: 1201407; HomoloGene: 32122; GeneCards: SH2B1; OMA:SH2B1 - orthologs
Gene location (Human)
Chromosome 16 (human)
Chr.Chromosome 16 (human)[1]
Chromosome 16 (human)
Genomic location for SH2B1
Genomic location for SH2B1
Band16p11.2Start28,846,600 bp[1]
End28,874,212 bp[1]
Gene location (Mouse)
Chromosome 7 (mouse)
Chr.Chromosome 7 (mouse)[2]
Chromosome 7 (mouse)
Genomic location for SH2B1
Genomic location for SH2B1
Band7 F3|7 69.06 cMStart126,066,166 bp[2]
End126,074,596 bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • right hemisphere of cerebellum

  • mucosa of transverse colon

  • right lobe of thyroid gland

  • right uterine tube

  • apex of heart

  • left lobe of thyroid gland

  • anterior pituitary

  • right ovary

  • left ovary

  • right frontal lobe
Top expressed in
  • neural layer of retina

  • granulocyte

  • muscle of thigh

  • molar

  • lip

  • superior frontal gyrus

  • primary visual cortex

  • thymus

  • ankle

  • quadriceps femoris muscle
More reference expression data
BioGPS


More reference expression data
Gene ontology
Molecular function
  • signaling adaptor activity
  • protein binding
  • transmembrane receptor protein tyrosine kinase adaptor activity
Cellular component
  • cytosol
  • nucleus
  • membrane
  • cytoplasm
  • plasma membrane
Biological process
  • positive regulation of signal transduction
  • positive regulation of mitotic nuclear division
  • blood coagulation
  • lamellipodium assembly
  • signal transduction
  • regulation of DNA biosynthetic process
  • transmembrane receptor protein tyrosine kinase signaling pathway
  • intracellular signal transduction
Sources:Amigo / QuickGO
Orthologs
SpeciesHumanMouse
Entrez

25970

20399

Ensembl

ENSG00000178188

ENSMUSG00000030733

UniProt

Q9NRF2

Q91ZM2

RefSeq (mRNA)
NM_001145795
NM_001145796
NM_001145797
NM_001145812
NM_001308293

NM_001308294
NM_015503
NM_001387404
NM_001387430

NM_001081459
NM_001289538
NM_001289539
NM_001289540
NM_001289541

NM_001289542
NM_011363

RefSeq (protein)
NP_001139267
NP_001139268
NP_001139269
NP_001139284
NP_001295222

NP_001295223
NP_056318

NP_001074928
NP_001276467
NP_001276468
NP_001276469
NP_001276470

NP_001276471
NP_035493

Location (UCSC)Chr 16: 28.85 – 28.87 MbChr 7: 126.07 – 126.07 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

SH2B adapter protein 1 is a protein that in humans is encoded by the SH2B1 gene.[5][6][7]

Interactions

SH2B1 has been shown to interact with:

Clinical significance

Variations close to or in the SH2B1 gene have been found to associate with obesity in two very large genome wide association studies of body mass index (BMI).[13][14] Furthermore, SH2B1 deletions are associated with severe early-onset obesity.[15]

See also

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000178188 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000030733 – Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Kong M, Wang CS, Donoghue DJ (Apr 2002). "Interaction of fibroblast growth factor receptor 3 and the adapter protein SH2-B. A role in STAT5 activation". J Biol Chem. 277 (18): 15962–70. doi:10.1074/jbc.M102777200. PMID 11827956.
  6. ^ a b Nelms K, O'Neill TJ, Li S, Hubbard SR, Gustafson TA, Paul WE (Jan 2000). "Alternative splicing, gene localization, and binding of SH2-B to the insulin receptor kinase domain". Mamm Genome. 10 (12): 1160–7. doi:10.1007/s003359901183. PMID 10594240. S2CID 21060861.
  7. ^ "Entrez Gene: SH2B1 SH2B adaptor protein 1".
  8. ^ a b Qian X, Riccio A, Zhang Y, Ginty DD (November 1998). "Identification and characterization of novel substrates of Trk receptors in developing neurons". Neuron. 21 (5): 1017–29. doi:10.1016/s0896-6273(00)80620-0. PMID 9856458. S2CID 12354383.
  9. ^ a b Kotani K, Wilden P, Pillay TS (October 1998). "SH2-Balpha is an insulin-receptor adapter protein and substrate that interacts with the activation loop of the insulin-receptor kinase". Biochem. J. 335 (1): 103–9. doi:10.1042/bj3350103. PMC 1219757. PMID 9742218.
  10. ^ Rui L, Mathews LS, Hotta K, Gustafson TA, Carter-Su C (November 1997). "Identification of SH2-Bbeta as a substrate of the tyrosine kinase JAK2 involved in growth hormone signaling". Mol. Cell. Biol. 17 (11): 6633–44. doi:10.1128/mcb.17.11.6633. PMC 232517. PMID 9343427.
  11. ^ Xie S, Lin H, Sun T, Arlinghaus RB (October 2002). "Jak2 is involved in c-Myc induction by Bcr-Abl". Oncogene. 21 (47): 7137–46. doi:10.1038/sj.onc.1205942. PMID 12370803.
  12. ^ Koch A, Mancini A, Stefan M, Niedenthal R, Niemann H, Tamura T (March 2000). "Direct interaction of nerve growth factor receptor, TrkA, with non-receptor tyrosine kinase, c-Abl, through the activation loop". FEBS Lett. 469 (1): 72–6. doi:10.1016/s0014-5793(00)01242-4. PMID 10708759. S2CID 28312468.
  13. ^ Thorleifsson G, Walters GB, Gudbjartsson DF, Steinthorsdottir V, Sulem P, Helgadottir A, Styrkarsdottir U, Gretarsdottir S, Thorlacius S, Jonsdottir I, Jonsdottir T, Olafsdottir EJ, Olafsdottir GH, Jonsson T, Jonsson F, Borch-Johnsen K, Hansen T, Andersen G, Jorgensen T, Lauritzen T, Aben KK, Verbeek AL, Roeleveld N, Kampman E, Yanek LR, Becker LC, Tryggvadottir L, Rafnar T, Becker DM, Gulcher J, Kiemeney LA, Pedersen O, Kong A, Thorsteinsdottir U, Stefansson K (January 2009). "Genome-wide association yields new sequence variants at seven loci that associate with measures of obesity". Nat. Genet. 41 (1): 18–24. doi:10.1038/ng.274. PMID 19079260. S2CID 764409.
  14. ^ Willer CJ, Speliotes EK, Loos RJ, Li S, Lindgren CM, Heid IM, Berndt SI, Elliott AL, Jackson AU, Lamina C, Lettre G, Lim N, Lyon HN, McCarroll SA, Papadakis K, Qi L, Randall JC, Roccasecca RM, Sanna S, Scheet P, Weedon MN, Wheeler E, Zhao JH, Jacobs LC, Prokopenko I, Soranzo N, Tanaka T, Timpson NJ, Almgren P, Bennett A, Bergman RN, Bingham SA, Bonnycastle LL, Brown M, Burtt NP, Chines P, Coin L, Collins FS, Connell JM, Cooper C, Smith GD, Dennison EM, Deodhar P, Elliott P, Erdos MR, Estrada K, Evans DM, Gianniny L, Gieger C, Gillson CJ, Guiducci C, Hackett R, Hadley D, Hall AS, Havulinna AS, Hebebrand J, Hofman A, Isomaa B, Jacobs KB, Johnson T, Jousilahti P, Jovanovic Z, Khaw KT, Kraft P, Kuokkanen M, Kuusisto J, Laitinen J, Lakatta EG, Luan J, Luben RN, Mangino M, McArdle WL, Meitinger T, Mulas A, Munroe PB, Narisu N, Ness AR, Northstone K, O'Rahilly S, Purmann C, Rees MG, Ridderstråle M, Ring SM, Rivadeneira F, Ruokonen A, Sandhu MS, Saramies J, Scott LJ, Scuteri A, Silander K, Sims MA, Song K, Stephens J, Stevens S, Stringham HM, Tung YC, Valle TT, Van Duijn CM, Vimaleswaran KS, Vollenweider P, Waeber G, Wallace C, Watanabe RM, Waterworth DM, Watkins N, Witteman JC, Zeggini E, Zhai G, Zillikens MC, Altshuler D, Caulfield MJ, Chanock SJ, Farooqi IS, Ferrucci L, Guralnik JM, Hattersley AT, Hu FB, Jarvelin MR, Laakso M, Mooser V, Ong KK, Ouwehand WH, Salomaa V, Samani NJ, Spector TD, Tuomi T, Tuomilehto J, Uda M, Uitterlinden AG, Wareham NJ, Deloukas P, Frayling TM, Groop LC, Hayes RB, Hunter DJ, Mohlke KL, Peltonen L, Schlessinger D, Strachan DP, Wichmann HE, McCarthy MI, Boehnke M, Barroso I, Abecasis GR, Hirschhorn JN (January 2009). "Six new loci associated with body mass index highlight a neuronal influence on body weight regulation". Nat. Genet. 41 (1): 24–34. doi:10.1038/ng.287. PMC 2695662. PMID 19079261.
  15. ^ Bochukova EG, Huang N, Keogh J, Henning E, Purmann C, Blaszczyk K, Saeed S, Hamilton-Shield J, Clayton-Smith J, O'Rahilly S, Hurles ME, Farooqi IS (February 2010). "Large, rare chromosomal deletions associated with severe early-onset obesity". Nature. 463 (7281): 666–70. doi:10.1038/nature08689. PMC 3108883. PMID 19966786.

Further reading

  • Rui L, Mathews LS, Hotta K, Gustafson TA, Carter-Su C (1997). "Identification of SH2-Bbeta as a substrate of the tyrosine kinase JAK2 involved in growth hormone signaling". Mol. Cell. Biol. 17 (11): 6633–44. doi:10.1128/mcb.17.11.6633. PMC 232517. PMID 9343427.
  • Kotani K, Wilden P, Pillay TS (1998). "SH2-Balpha is an insulin-receptor adapter protein and substrate that interacts with the activation loop of the insulin-receptor kinase". Biochem. J. 335 (Pt 1): 103–9. doi:10.1042/bj3350103. PMC 1219757. PMID 9742218.
  • Qian X, Riccio A, Zhang Y, Ginty DD (1999). "Identification and characterization of novel substrates of Trk receptors in developing neurons". Neuron. 21 (5): 1017–29. doi:10.1016/S0896-6273(00)80620-0. PMID 9856458. S2CID 12354383.
  • Koch A, Mancini A, Stefan M, Niedenthal R, Niemann H, Tamura T (2000). "Direct interaction of nerve growth factor receptor, TrkA, with non-receptor tyrosine kinase, c-Abl, through the activation loop". FEBS Lett. 469 (1): 72–6. doi:10.1016/S0014-5793(00)01242-4. PMID 10708759. S2CID 28312468.
  • Nagase T, Kikuno R, Ishikawa KI, Hirosawa M, Ohara O (2000). "Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro". DNA Res. 7 (1): 65–73. doi:10.1093/dnares/7.1.65. PMID 10718198.
  • Rui L, Gunter DR, Herrington J, Carter-Su C (2000). "Differential binding to and regulation of JAK2 by the SH2 domain and N-terminal region of SH2-bbeta". Mol. Cell. Biol. 20 (9): 3168–77. doi:10.1128/MCB.20.9.3168-3177.2000. PMC 85611. PMID 10757801.
  • O'Brien KB, O'Shea JJ, Carter-Su C (2002). "SH2-B family members differentially regulate JAK family tyrosine kinases". J. Biol. Chem. 277 (10): 8673–81. doi:10.1074/jbc.M109165200. PMID 11751854.
  • Ohtsuka S, Takaki S, Iseki M, Miyoshi K, Nakagata N, Kataoka Y, Yoshida N, Takatsu K, Yoshimura A (2002). "SH2-B is required for both male and female reproduction". Mol. Cell. Biol. 22 (9): 3066–77. doi:10.1128/MCB.22.9.3066-3077.2002. PMC 133757. PMID 11940664.
  • Xie S, Lin H, Sun T, Arlinghaus RB (2002). "Jak2 is involved in c-Myc induction by Bcr-Abl". Oncogene. 21 (47): 7137–46. doi:10.1038/sj.onc.1205942. PMID 12370803.
  • Nakayama M, Kikuno R, Ohara O (2003). "Protein-protein interactions between large proteins: two-hybrid screening using a functionally classified library composed of long cDNAs". Genome Res. 12 (11): 1773–84. doi:10.1101/gr.406902. PMC 187542. PMID 12421765.
  • O'Brien KB, Argetsinger LS, Diakonova M, Carter-Su C (2003). "YXXL motifs in SH2-Bbeta are phosphorylated by JAK2, JAK1, and platelet-derived growth factor receptor and are required for membrane ruffling". J. Biol. Chem. 278 (14): 11970–8. doi:10.1074/jbc.M210765200. PMID 12551917.
  • Nishi M, Werner ED, Oh BC, Frantz JD, Dhe-Paganon S, Hansen L, Lee J, Shoelson SE (2005). "Kinase activation through dimerization by human SH2-B". Mol. Cell. Biol. 25 (7): 2607–21. doi:10.1128/MCB.25.7.2607-2621.2005. PMC 1061652. PMID 15767667.
  • Donatello S, Fiorino A, Degl'Innocenti D, Alberti L, Miranda C, Gorla L, Bongarzone I, Rizzetti MG, Pierotti MA, Borrello MG (2007). "SH2B1beta adaptor is a key enhancer of RET tyrosine kinase signaling". Oncogene. 26 (45): 6546–59. doi:10.1038/sj.onc.1210480. PMID 17471236.
  • v
  • t
  • e
  • 2hdv: Crystal structure of the Src Homology-2 domain of the adapter protein SH2-B
    2hdv: Crystal structure of the Src Homology-2 domain of the adapter protein SH2-B
  • 2hdx: Crystal structure of the Src homology-2 domain of SH2-B in complex with Jak2 pTyr813 phosphopeptide
    2hdx: Crystal structure of the Src homology-2 domain of SH2-B in complex with Jak2 pTyr813 phosphopeptide