Human Gene SORBS1 (uc001kkk.3) Description and Page Index
Description: Homo sapiens sorbin and SH3 domain containing 1 (SORBS1), transcript variant 5, mRNA.
RefSeq Summary (NM_001034957): 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 chr10:97,071,530-97,145,062 Size: 73,533 Total Exon Count: 15 Strand: -
Position: hg19 chr10:97,074,816-97,144,136 Size: 69,321 Coding Exon Count: 15
Data last updated: 2013-06-15
Sequence and Links to Tools and Databases
Comments and Description Text from UniProtKB
DESCRIPTION: SubName: Full=Putative uncharacterized protein DKFZp686N08224;
SIMILARITY: Contains 3 SH3 domains.
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
Arteries , , .
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.
Leukocyte Count , , .
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Comparative Toxicogenomics Database (CTD)
Common Gene Haplotype Alleles
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RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
Microarray Expression Data
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mRNA Secondary Structure of 3' and 5' UTRs
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
InterPro Domains: Graphical view of domain structure IPR000108 - p67phox
IPR011511 - SH3_2
IPR001452 - SH3_domain
Pfam Domains: PF00018 - SH3 domain
PF07653 - Variant SH3 domain
PF14604 - Variant SH3 domain
SCOP Domains: 50044 - SH3-domain
ModBase Predicted Comparative 3D Structure on Q6MZY5
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.
Gene Ontology (GO) Annotations with Structured Vocabulary
Biological Process: GO:0007015 actin filament organization
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. 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.
Biochemical and Signaling Pathways
KEGG - Kyoto Encyclopedia of Genes and Genomes hsa03320 - PPAR signaling pathway hsa04520 - Adherens junction hsa04910 - Insulin signaling pathway
Other Names for This Gene
Alternate Gene Symbols: BX640814, DKFZp686N08224, NM_001034957, NP_001030129, Q6MZY5, Q6MZY5_HUMAN UCSC ID: uc001kkk.3 RefSeq Accession: NM_001034957
Gene Model Information
15 CDS single in 3' UTR:
1647 CDS single in intron:
Alignment % ID:
3093.00 frame shift in genome:
has start codon:
stop codon in genome:
# of Alignments:
has end codon:
# AT/AC introns
end bleed into intron:
1020 # strange splices:
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Methods, Credits, and Use Restrictions
for details on how this gene model was made and data restrictions if any.