SORBS1 (sorbin and SH3 domain containing 1)

2018-07-01  

Identity

HGNC
LOCATION
10q24.1
LOCUSID
ALIAS
CAP,FLAF2,R85FL,SH3D5,SH3P12,SORB1
FUSION GENES

Other Information

Locus ID:

NCBI: 10580
MIM: 605264
HGNC: 14565
Ensembl: ENSG00000095637

Variants:

dbSNP: 10580
ClinVar: 10580
TCGA: ENSG00000095637
COSMIC: SORBS1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000095637ENST00000277982Q9BX66
ENSG00000095637ENST00000306402Q9BX66
ENSG00000095637ENST00000354106Q9BX66
ENSG00000095637ENST00000361941Q9BX66
ENSG00000095637ENST00000371227Q9BX66
ENSG00000095637ENST00000371228Q5T925
ENSG00000095637ENST00000371239Q9BX66
ENSG00000095637ENST00000371241Q9BX66
ENSG00000095637ENST00000371245Q9BX66
ENSG00000095637ENST00000371246Q9BX66
ENSG00000095637ENST00000371247Q9BX66
ENSG00000095637ENST00000371249Q9BX66
ENSG00000095637ENST00000486141S4R303
ENSG00000095637ENST00000492542S4R406
ENSG00000095637ENST00000607232Q9BX66
ENSG00000095637ENST00000634504A0A0U1RQI5
ENSG00000095637ENST00000647619A0A3B3IRR9
ENSG00000095637ENST00000649575A0A3B3IRW8
ENSG00000095637ENST00000649911A0A3B3IT56

Expression (GTEx)

0
50
100
150
200
250
300
350
400
450

Pathways

PathwaySourceExternal ID
PPAR signaling pathwayKEGGko03320
Adherens junctionKEGGko04520
Insulin signaling pathwayKEGGko04910
PPAR signaling pathwayKEGGhsa03320
Adherens junctionKEGGhsa04520
Insulin signaling pathwayKEGGhsa04910
Muscle contractionREACTOMER-HSA-397014
Smooth Muscle ContractionREACTOMER-HSA-445355

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
163854512006A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.69
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
191655272009Prefrontal cortex shotgun proteome analysis reveals altered calcium homeostasis and immune system imbalance in schizophrenia.56
202019262010Human variation in alcohol response is influenced by variation in neuronal signaling genes.45
157777932005The intracellular domain of teneurin-1 interacts with MBD1 and CAP/ponsin resulting in subcellular codistribution and translocation to the nuclear matrix.27
186604892008Multiple genetic variants along candidate pathways influence plasma high-density lipoprotein cholesterol concentrations.26
123952152002Polymorphisms in candidate obesity genes and their interaction with dietary intake of n-6 polyunsaturated fatty acids affect obesity risk in a sub-sample of the EPIC-Heidelberg cohort.20
115329842001Molecular scanning of the human sorbin and SH3-domain-containing-1 (SORBS1) gene: positive association of the T228A polymorphism with obesity and type 2 diabetes.14
174626692007Paxillin and ponsin interact in nascent costameres of muscle cells.13
222353352012Molecular networks in FGF signaling: flotillin-1 and cbl-associated protein compete for the binding to fibroblast growth factor receptor substrate 2.13

Citation

Dessen P

SORBS1 (sorbin and SH3 domain containing 1)

Atlas Genet Cytogenet Oncol Haematol. 2018-07-01

Online version: http://atlasgeneticsoncology.org/gene/57478/sorbs1-(sorbin-and-sh3-domain-containing-1)