Human Gene SORBS1 (uc001kkv.3) Description and Page Index
  Description: Homo sapiens sorbin and SH3 domain containing 1 (SORBS1), transcript variant 2, mRNA.
RefSeq Summary (NM_015385): This gene encodes a CBL-associated protein which functions in the signaling and stimulation of insulin. Mutations in this gene may be associated with human disorders of insulin resistance. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014].
Transcript (Including UTRs)
   Position: hg19 chr10:97,071,530-97,321,171 Size: 249,642 Total Exon Count: 25 Strand: -
Coding Region
   Position: hg19 chr10:97,074,816-97,200,892 Size: 126,077 Coding Exon Count: 23 

Page IndexSequence and LinksGenetic AssociationsCTDGene AllelesRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesmRNA DescriptionsPathways
Other NamesModel InformationMethods
Data last updated: 2013-06-15

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr10:97,071,530-97,321,171)mRNA (may differ from genome)Protein (816 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCLynxMGIOMIM
PubMedReactomeStanford SOURCETreefamUniProtKBWikipedia

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): SORBS1
CDC HuGE Published Literature: SORBS1
Positive Disease Associations: Arteries , diabetes, type 2 , Leukocyte Count , Platelet Count
Related Studies:
  1. Arteries
    , , . [PubMed 0]
  2. diabetes, type 2
    Lin WH et al. 2001, Molecular scanning of the human sorbin and SH3-domain-containing-1 (SORBS1) gene: positive association of the T228A polymorphism with obesity and type 2 diabetes., Human molecular genetics. 2001 Aug;10(17):1753-60. [PubMed 11532984]
  3. Leukocyte Count
    , , . [PubMed 0]
           more ... click here to view the complete list

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 175.76 RPKM in Esophagus - Muscularis
Total median expression: 1888.79 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -75.02226-0.332 Picture PostScript Text
3' UTR -969.563286-0.295 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  Pfam Domains:
PF00018 - SH3 domain
PF02208 - Sorbin homologous domain
PF07653 - Variant SH3 domain
PF14604 - Variant SH3 domain

SCOP Domains:
50044 - SH3-domain

ModBase Predicted Comparative 3D Structure on Q9BX66-10
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
      
      
      

-  Descriptions from all associated GenBank mRNAs
  AB020701 - Homo sapiens mRNA for KIAA0894 protein, partial cds.
BX640814 - Homo sapiens mRNA; cDNA DKFZp686N08224 (from clone DKFZp686N08224).
BC152463 - Homo sapiens sorbin and SH3 domain containing 1, mRNA (cDNA clone MGC:176720 IMAGE:8862599), complete cds.
AL117472 - Homo sapiens mRNA; cDNA DKFZp586P1422 (from clone DKFZp586P1422).
AB037717 - Homo sapiens KIAA1296 mRNA for KIAA1296 protein.
AM260536 - Homo sapiens mRNA for ponsin (SORBS1 gene), striated muscle isoform.
AK300407 - Homo sapiens cDNA FLJ60072 complete cds, highly similar to Homo sapiens sorbin and SH3 domain containing 1 (SORBS1), transcript variant 6, mRNA.
AK304130 - Homo sapiens cDNA FLJ53695 complete cds, highly similar to Homo sapiens sorbin and SH3 domain containing 1 (SORBS1), transcript variant 5, mRNA.
AK294924 - Homo sapiens cDNA FLJ53322 complete cds, highly similar to Homo sapiens sorbin and SH3 domain containing 1 (SORBS1), transcript variant 5, mRNA.
AJ489942 - Homo sapiens mRNA for c-Cbl associated protein (CAP gene).
BC042612 - Homo sapiens sorbin and SH3 domain containing 1, mRNA (cDNA clone IMAGE:4821975), complete cds.
AF356525 - Homo sapiens sorbin and SH3 domain containing 1 mRNA, complete cds, alternatively spliced.
AF356526 - Homo sapiens sorbin and SH3 domain containing 1 mRNA, complete cds, alternatively spliced.
AF356527 - Homo sapiens sorbin and SH3 domain containing 1 mRNA, complete cds, alternatively spliced.
AF136380 - Homo sapiens SH3P12 protein mRNA, complete cds.
AF136381 - Homo sapiens c-Cbl-associated protein SH3P12 (SH3P12) mRNA, complete cds.
AF330623 - Homo sapiens brain R85FL mRNA, complete cds.
BC160134 - Synthetic construct Homo sapiens clone IMAGE:100064166, MGC:193249 sorbin and SH3 domain containing 1 (SORBS1) mRNA, encodes complete protein.
AB463276 - Synthetic construct DNA, clone: pF1KA1296, Homo sapiens SORBS1 gene for sorbin and SH3 domain containing 1, without stop codon, in Flexi system.
AM393082 - Synthetic construct Homo sapiens clone IMAGE:100001661 for hypothetical protein (SORBS1 gene).
AK304753 - Homo sapiens cDNA FLJ54732 complete cds, moderately similar to Sorbin and SH3 domain-containing protein 1.
KJ902130 - Synthetic construct Homo sapiens clone ccsbBroadEn_11524 SORBS1 gene, encodes complete protein.
KR710931 - Synthetic construct Homo sapiens clone CCSBHm_00018225 SORBS1 (SORBS1) mRNA, encodes complete protein.
AK022468 - Homo sapiens cDNA FLJ12406 fis, clone MAMMA1002842.
AL122082 - Homo sapiens mRNA; cDNA DKFZp434C0972 (from clone DKFZp434C0972).
AL832353 - Homo sapiens mRNA; cDNA DKFZp451C066 (from clone DKFZp451C066).
JD500092 - Sequence 481116 from Patent EP1572962.
JD379365 - Sequence 360389 from Patent EP1572962.
JD237819 - Sequence 218843 from Patent EP1572962.
JD486762 - Sequence 467786 from Patent EP1572962.
JD515493 - Sequence 496517 from Patent EP1572962.
JD373934 - Sequence 354958 from Patent EP1572962.
JD302945 - Sequence 283969 from Patent EP1572962.
JD345089 - Sequence 326113 from Patent EP1572962.
JD202623 - Sequence 183647 from Patent EP1572962.
JD566372 - Sequence 547396 from Patent EP1572962.
JD136760 - Sequence 117784 from Patent EP1572962.
JD372708 - Sequence 353732 from Patent EP1572962.
JD141248 - Sequence 122272 from Patent EP1572962.
JD317080 - Sequence 298104 from Patent EP1572962.
JD465709 - Sequence 446733 from Patent EP1572962.
JD343269 - Sequence 324293 from Patent EP1572962.
JD530004 - Sequence 511028 from Patent EP1572962.
JD037308 - Sequence 18332 from Patent EP1572962.
JD305167 - Sequence 286191 from Patent EP1572962.
JD495515 - Sequence 476539 from Patent EP1572962.
JD101216 - Sequence 82240 from Patent EP1572962.
JD436680 - Sequence 417704 from Patent EP1572962.
JD543431 - Sequence 524455 from Patent EP1572962.
JD049349 - Sequence 30373 from Patent EP1572962.
JD514773 - Sequence 495797 from Patent EP1572962.
JD192984 - Sequence 174008 from Patent EP1572962.
JD205479 - Sequence 186503 from Patent EP1572962.
JD162308 - Sequence 143332 from Patent EP1572962.
JD155234 - Sequence 136258 from Patent EP1572962.
JD094585 - Sequence 75609 from Patent EP1572962.
JD047366 - Sequence 28390 from Patent EP1572962.
JD252754 - Sequence 233778 from Patent EP1572962.
JD049010 - Sequence 30034 from Patent EP1572962.
JD071494 - Sequence 52518 from Patent EP1572962.
JD514310 - Sequence 495334 from Patent EP1572962.
AF330624 - Homo sapiens retina R85 mRNA, partial cds.
U70668 - Human Fas-ligand associated factor 2 mRNA, partial cds.
CU692104 - Synthetic construct Homo sapiens gateway clone IMAGE:100020958 5' read SORBS1 mRNA.
JD348521 - Sequence 329545 from Patent EP1572962.
JD400435 - Sequence 381459 from Patent EP1572962.
JD444267 - Sequence 425291 from Patent EP1572962.
JD143675 - Sequence 124699 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa03320 - PPAR signaling pathway
hsa04520 - Adherens junction
hsa04910 - Insulin signaling pathway

Reactome (by CSHL, EBI, and GO)

Protein Q9BX66 (Reactome details) participates in the following event(s):

R-HSA-445705 Release Of ADP From Myosin
R-HSA-445699 ATP Hydrolysis By Myosin
R-HSA-445700 Myosin Binds ATP
R-HSA-445704 Calcium Binds Caldesmon
R-HSA-445355 Smooth Muscle Contraction
R-HSA-397014 Muscle contraction

-  Other Names for This Gene
  Alternate Gene Symbols: KIAA0894, KIAA1296, NM_015385, NP_056200, Q9BX66-10, SH3D5
UCSC ID: uc001kkv.3
RefSeq Accession: NM_015385
Protein: Q9BX66-10 CCDS: CCDS7442.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_015385.2
exon count: 25CDS single in 3' UTR: no RNA size: 5979
ORF size: 2451CDS single in intron: no Alignment % ID: 99.98
txCdsPredict score: 4052.00frame shift in genome: no % Coverage: 99.73
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.