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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

SORBS1 Gene

protein-coding GIFtS: 63
GCID: GC10M097061

sorbin and SH3 domain containing 1

(Previous name: SH3-domain protein 5 (ponsin) )
(Previous symbol: SH3D5)

Explore 8 diseases affiliated with
SORBS1 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Sorbin And SH3 Domain Containing 1¹ ²		Sh3p12¹
SH3D5¹ ² ³ ⁵		FLAF2²
CAP¹ ² ³		R85FL²
KIAA1296¹ ³ ⁵		SORB1²
SH3P12² ³ ⁵		C-Cbl Associated Protein²
Ponsin³		Fas-Ligand Associated Factor 2²
SH3-Domain Protein 5 (Ponsin)¹ ²		Sorbin And SH3 Domain-Containing Protein 1²
C-Cbl-Associated Protein² ³		KIAA0894³
SH3 Domain Protein 5² ³		Ponsin³
FLJ12406¹

External Ids:	HGNC: 14565¹	Entrez Gene: 10580²	Ensembl: ENSG00000095637⁷	OMIM: 605264⁵	UniProtKB: Q9BX66³

Export aliases for SORBS1 gene to outside databases

Previous GC identifers: GC10M095964 GC10M096305 GC10M097202 GC10M096736 GC10M090698

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

UniProtKB/Swiss-Prot: SRBS1_HUMAN, Q9BX66

Function: Plays a role in tyrosine phosphorylation of CBL by linking CBL to the insulin receptor. Required for

insulin-stimulated glucose transport. Involved in formation of actin stress fibers and focal adhesions (By similarity)

Gene Wiki entry for SORBS1

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000010.10 NC_018921.1 NT_030059.13

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the SORBS1 gene promoter:
AREB6 Spz1 NRSF form 1 NRSF form 2
Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): SORBS1 promoter sequence

Search SABiosciences Chromatin IP Primers for SORBS1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SORBS1

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 10q23.33 Ensembl cytogenetic band: 10q24.1 HGNC cytogenetic band: 10q23.33

SORBS1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SORBS1 gene location

GeneLoc information about chromosome 10 GeneLoc Exon Structure

GeneLoc location for GC10M097061: view genomic region (about GC identifiers)

Start:	97,071,528 bp from pter	End:	97,321,171 bp from pter
Size:	249,644 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: SRBS1_HUMAN, Q9BX66 (See protein sequence)

Recommended Name: Sorbin and SH3 domain-containing protein 1

Size: 1292 amino acids; 142513 Da

Subunit: Interacts (via third SH3 domain) with the Ten-1 ICD form of TENM1; the interaction induces the translocation

of SORBS1 to the nucleus (By similarity). Interacts with the long isoform of MLLT4/afadin and with VCL. MLLT4 and VCL

bind to SORBS1 in a competitive manner and do not form a ternary complex. Interacts with ABL1, CBL, CBLB and

INPPL1/SHIP2 through the third SH3 domain. Interaction with ABL1 occurs only after insulin stimulation while this has

no effect on the interaction with INPPL1. Interacts with the insulin receptor but dissociates from it following

insulin stimulation. Also interacts with SCA7, PTK2/FAK1 and flotillin. Interacts (via SH3 domain 2) with PXN

Subcellular location: Cell junction, adherens junction. Cell membrane. Cytoplasm, cytoskeleton. Cell junction, focal

adhesion. Nucleus (By similarity). Nucleus matrix (By similarity). Note=Colocalizes with the Ten-1 ICD form of TENM1

in the nucleus (By similarity). Colocalizes with actin stress fibers. Also detected at the plasma membrane and in

neuronal intranuclear inclusions. Colocalized with PXN at focal adhesions during myogenic differentiation

Sequence caution: Sequence=AAB93496.1; Type=Frameshift; Positions=861, 867, 885; Sequence=BAA92534.1; Type=Erroneous

initiation; Note=Translation N-terminally shortened;

6/8 PDB 3D structures from and Proteopedia for SORBS1 (see all 8):

2DL3 (3D)

2ECZ (3D)

2LJ0 (3D)

2LJ1 (3D)

2O2W (3D)

2O31 (3D)

Secondary accessions: A0AED4 A6NEK3 A6NID8 A6NJS4 A7MD40 D3DR42 O43857 Q5T923 Q5T924 Q5T927 Q5T928

Q5T929 Q5T930 Q5T931 Q5T932 Q7LBE5 Q8IVK0 Q8IVQ4 Q96KF3 Q96KF4 Q9BX64 Q9BX65 Q9P2Q0 Q9UFT2 Q9UHN7

Q9Y338

Alternative splicing: 12 isoforms: Q9BX66-1 Q9BX66-2 Q9BX66-3 Q9BX66-4 Q9BX66-5 Q9BX66-6 Q9BX66-7 Q9BX66-8

Q9BX66-9 Q9BX66-10 Q9BX66-11 Q9BX66-12 (No experimental confirmation available. Derived from mouse ortholog data. Contains a phosphoserine at position 1213)

Explore the universe of human proteins at neXtProt for SORBS1: NX_Q9BX66

Post-translational modifications:

O-glycosylated (By similarity)¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q9BX66

SORBS1 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (7 alternative transcripts):

NP_001030126.1 NP_001030127.1 NP_001030128.1 NP_001030129.1 NP_006425.2 NP_056200.1 NP_079267.1

ENSEMBL proteins:

ENSP00000360291 ENSP00000302556 ENSP00000360295 ENSP00000355136 ENSP00000277982

ENSP00000360285 ENSP00000277984 ENSP00000360283 ENSP00000433353 ENSP00000360293

ENSP00000360271 ENSP00000360292 ENSP00000377521 ENSP00000343998 ENSP00000277985

Reactome Protein details: Q9BX66
Human Recombinant Protein Products:

	Browse Purified and Recombinant Proteins at EMD Millipore
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	Browse recombinant and purified proteins available from Enzo Life Sciences
	Browse OriGene full length recombinant human proteins expressed in human HEK293 cells Browse OriGene Protein Over-expression Lysates OriGene Custom Protein Services for SORBS1
	GenScript Custom Purified and Recombinant Proteins Services for SORBS1
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for SORBS1

Gene Ontology (GO): 5/14 cellular component terms (GO ID links to tree view) (see all 14): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001725	stress fiber	ISS	--
GO:0005634	nucleus	IDA	--
GO:0005730	NOT nucleolus	IDA	--
GO:0005737	cytoplasm	IDA	--
GO:0005813	centrosome	IDA	--

SORBS1 for ontologies About GeneDecksing

SORBS1 Antibody Products:

	EMD Millipore Mono- and Polyclonal Antibodies for the study of SORBS1
	Browse R&D Systems for Antibodies
	OriGene Antibodies: SORBS1 OriGene Custom Antibody Services for SORBS1
	GenScript Custom Superior Antibodies Services for SORBS1
	Novus Biologicals SORBS1 Antibodies
	Search for Antibodies for SORBS1 at Abcam
	Uscn Antibodies for SORBS1
	ThermoFisher Antibody for SORBS1

Assay Products for SORBS1:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for SORBS1
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for SORBS1

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

SORBS1 for domains About GeneDecksing

3 InterPro domains/families:

IPR011511 SH3_2

IPR001452 SH3_domain

IPR003127 Sorb

Graphical View of Domain Structure for InterPro Entry Q9BX66

ProtoNet protein and cluster: Q9BX66

1 Blocks protein family: IPB003127 Sorbin-like

UniProtKB/Swiss-Prot: SRBS1_HUMAN, Q9BX66

Similarity: Contains 3 SH3 domains

Similarity: Contains 1 SoHo domain

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: SRBS1_HUMAN, Q9BX66

Function: Plays a role in tyrosine phosphorylation of CBL by linking CBL to the insulin receptor. Required for

insulin-stimulated glucose transport. Involved in formation of actin stress fibers and focal adhesions (By similarity)

miRNA Products:		OriGene 3'-UTR Clone (see all 7): SORBS1 Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SORBS1
		8/78 QIAGEN miScript miRNA Assays for microRNAs that regulate SORBS1 (see all 78):
		hsa-miR-579 hsa-miR-607 hsa-miR-300 hsa-miR-4272 hsa-miR-3074-3p hsa-miR-138-2* hsa-miR-342-3p hsa-miR-3122

		SwitchGear 3'UTR luciferase reporter plasmid: SORBS1 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for SORBS1 (see all 4) OriGene shRNA RFP: SORBS1 OriGene siRNA: SORBS1
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SORBS1

Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for SORBS1

Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for SORBS1 (see all 13) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for SORBS1 (see all 9) OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 7): SORBS1 (NM_015385)
		Browse Sino Biological Human cDNA Clones
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for SORBS1
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SORBS1

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for SORBS1
		Search LifeMap BioReagents cell lines for SORBS1

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SORBS1

Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003779	actin binding	TAS	10085297
GO:0005070	SH3/SH2 adaptor activity	ISS	9447983
GO:0005158	insulin receptor binding	IDA	11374898
GO:0005515	protein binding	IPI	12504111
GO:0008092	cytoskeletal protein binding	TAS	10085297

SORBS1 for ontologies About GeneDecksing

1 GenomeRNAi human phenotype for SORBS1:

Synthetic lethal with imatinib

Animal Models:
Mouse knock-out Sorbs1^tm1Krc for SORBS1
4 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Sorbs1):

adipose tissue

hematopoietic system

homeostasis/metabolism

immune system

SORBS1 for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/11 super-pathways (see all 11) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Sertoli-Sertoli Cell Junction Dynamics

Sertoli-Sertoli Cell Junction Dynamics

1.00

Germ Cell-Sertoli Cell Junction Dynamics

0.38

Striated Muscle Contraction

Muscle contraction

0.65

Smooth Muscle Contraction

0.11

Insulin Signaling

Insulin Signaling

1.00

Insulin Pathway

Insulin Pathway

1.00

Adherens junction

Adherens junction

1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

1 EMD Millipore Pathway for SORBS1

Selected targets of p53

1 R&D Systems Pathway for SORBS1

Adipocytokines & Insulin Signaling

3 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for SORBS1

	Sertoli-Sertoli Cell Junction Dynamics
	Germ Cell-Sertoli Cell Junction Dynamics
	Epithelial Adherens Junctions

3 BioSystems Pathways for SORBS1

	Integrin-mediated cell adhesion
	Insulin Signaling
	Insulin Pathway

2 Reactome Pathways for SORBS1

	Smooth Muscle Contraction
	Muscle contraction

3 Kegg Pathways (Kegg details for SORBS1):

	PPAR signaling pathway
	Adherens junction
	Insulin signaling pathway

SORBS1 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for SORBS1

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/56 Interacting proteins for SORBS1 (Q9BX66^{1, 2, 3} ENSP00000355136⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 56)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
ABL1	P00519¹^,³, ENSP00000361423⁴	EBI-433642,EBI-1550796 I2D: score=3 STRING: ENSP00000361423
DNM2	P50570²^,³, ENSP00000352721⁴	MINT-6804344 MINT-6804446 MINT-6804464 I2D: score=1 STRING: ENSP00000352721
PAK2	Q13177²^,³, ENSP00000314067⁴	MINT-2792264 MINT-2792874 I2D: score=2 STRING: ENSP00000314067
INPPL1	O15357¹^,³, ENSP00000298229⁴	EBI-433642,EBI-1384248 I2D: score=3 STRING: ENSP00000298229
ADAM15	Q13444²^,³, ENSP00000349436⁴	MINT-2792681 I2D: score=2 STRING: ENSP00000349436

About this table

Gene Ontology (GO): 5/11 biological process terms (GO ID links to tree view) (see all 11): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006936	muscle contraction	TAS	--
GO:0007160	cell-matrix adhesion	TAS	10085297
GO:0008286	insulin receptor signaling pathway	ISS	--
GO:0015758	glucose transport	ISS	--
GO:0032869	cellular response to insulin stimulus	ISS	11001060

SORBS1 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

SORBS1 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for SORBS1
4 Novoseek chemical compound relationships for SORBS1 gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
11beta-hydroxysteroid	48.3	2	14742839 (1), 15220243 (1)
tyrosine	26.1	3	19891780 (2), 10734046 (1)
glucose	19.5	6	15047181 (3), 12849814 (1), 11532984 (1)
lipid	2.35	5	17548467 (2), 11481476 (1)

Search CenterWatch for drugs/clinical trials and news about SORBS1 / SRBS1

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for SORBS1 gene (7 alternative transcripts):

NM_001034954.1 NM_001034955.1 NM_001034956.1 NM_001034957.1 NM_006434.2 NM_015385.2 NM_024991.1

Unigene Cluster for SORBS1:

Sorbin and SH3 domain containing 1

Hs.38621 [show with all ESTs]

Unigene Representative Sequence: AM260536

18/22 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 22):

ENST00000371245(uc001kkk.3) ENST00000470320 ENST00000306402(uc001kkr.3 uc001kks.3 uc001kku.3 uc010qoe.2)

ENST00000371249(uc001kkv.3) ENST00000361941 ENST00000277982 ENST00000371241

ENST00000354106 ENST00000371239 ENST00000472854 ENST00000486141 ENST00000465489

ENST00000470039(uc001kkx.1) ENST00000492542 ENST00000474353 ENST00000482068

ENST00000371247(uc001kkp.3) ENST00000371227(uc001kkw.3)

miRNA Products:		OriGene 3'-UTR Clone (see all 7): SORBS1 Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SORBS1
		8/78 QIAGEN miScript miRNA Assays for microRNAs that regulate SORBS1 (see all 78):
		hsa-miR-579 hsa-miR-607 hsa-miR-300 hsa-miR-4272 hsa-miR-3074-3p hsa-miR-138-2* hsa-miR-342-3p hsa-miR-3122

		SwitchGear 3'UTR luciferase reporter plasmid: SORBS1 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for SORBS1 (see all 4) OriGene shRNA RFP: SORBS1 OriGene siRNA: SORBS1
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SORBS1

Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for SORBS1 (see all 13) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for SORBS1 (see all 9) OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 7): SORBS1 (NM_015385)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for SORBS1
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SORBS1

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for SORBS1 Browse OriGene validated miRNA SYBR primer pairs
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		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SORBS1
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SORBS1

Additional cDNA sequence:

AB037717.1 AF136380.1 AF136381.1 AF330623.1 AF330624.1 AF356525.1 AF356526.1 AF356527.1

AJ489942.1 AK022468.1 AK294924.1 AK300407.1 AK304130.1 AK304753.1 AL117472.1 AL122082.1

AL832353.1 AL833125.1 AM260536.1 BC042612.1 BC152463.1 BX640814.1 BX648865.1 U70668.1

24/36 DOTS entries (see all 36):

DT.317571 DT.97845045 DT.100666865 DT.75169352 DT.75129181 DT.95306923 DT.100791994 DT.100791990

DT.40253974 DT.75191558 DT.91759624 DT.100791989 DT.100791997 DT.91759620 DT.121285256 DT.121285151

DT.100791999 DT.121285268 DT.424711 DT.87002072 DT.91750794 DT.95358091 DT.97833467 DT.100791998

24/266 AceView cDNA sequences (see all 266):

BQ004800 AJ710850 AA704854 AA369404 AL117472 AF143880 NM_015385 AW008608

BQ893607 AL603112 AI127602 CF457414 CD172053 CF454638 AI459198 AA514481

AL598501 BQ950730 AA320050 BX648865 CA390030 BP350127 AI220492 AI057082

GeneLoc Exon Structure

5/21 Alternative Splicing Database (ASD) splice patterns (SP) for SORBS1 (see all 21) About this scheme

ExUns:	1a	·	1b	·	1c	^	2	^	3	^	4	^	5a	·	5b	·	5c	^	6	^	7	^	8a	·	8b	^	9	^	10	^	11	^	12	^	13a	·	13b	^	14a	·	14b	^	15	^	16	^	17	^	18	^	19	^
SP1:																	-								-						-		-		-				-		-		-
SP2:							-				-						-								-						-		-		-		-		-		-		-
SP3:																									-		-				-		-		-		-		-		-		-
SP4:																	-				-				-		-				-		-						-		-		-
SP5:																					-				-						-		-		-		-		-		-		-

ExUns:	20	^	21	^	22	^	23a	·	23b	^	24a	·	24b	^	25	^	26	^	27	^	28	^	29	^	30a	·	30b	^	31	^	32	^	33	^	34	^	35	^	36	^	37a	·	37b	^	38	^	39	^	40a	·	40b	^
SP1:	-		-		-		-														-								-						-												-		-		-
SP2:	-		-		-		-										-		-		-								-						-												-		-		-
SP3:					-		-												-		-								-						-												-		-		-
SP4:	-		-		-		-										-		-		-								-																		-		-		-
SP5:	-		-		-		-												-										-						-												-		-		-

ExUns:	41	^	42	^	43	^	44	^	45a	·	45b	·	45c	·	45d	·	45e	·	45f
SP1:			-
SP2:	-		-
SP3:	-		-
SP4:	-		-
SP5:	-		-

ECgene alternative splicing isoforms for SORBS1

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

SORBS1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TCCTATGCAG

About this image

SORBS1 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

2 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Eye

Lens

Eye

Somite

Lumbar Vertebral Body

Somite

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 1 LifeMap Cell

Name

Category

Posterior foregut-like cells (A scalable, suspensi...)

See SORBS1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for SORBS1

SOURCE GeneReport for Unigene cluster: Hs.38621

UniProtKB/Swiss-Prot: SRBS1_HUMAN, Q9BX66

Tissue specificity: Detected in skeletal muscle (at protein level). Widely expressed with highest levels in heart and

skeletal muscle

SABiosciences Expression via Pathway-Focused PCR Arrays including SORBS1:

Insulin Signaling Pathway in human mouse rat

Adherens Junctions in human mouse rat

Signal Transduction PathwayFinder in human mouse rat

PPAR Targets in human mouse rat

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In Situ
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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for SORBS1 gene from 6/17 species (see all 17) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	SORBS1¹	sorbin and SH3 domain containing 1	72.13(n) 68.74(a)		423749 XM_421625.3 XP_421625.3
lizard (Anolis carolinensis)	Reptilia	SORBS1⁶	--	27(a)	1 ↔ 1	GL343297.1(1362072-1436136)
tropical clawed frog (Xenopus tropicalis)	Amphibia	BX715117.1²	--	80.25(n)		BX715117.1
zebrafish (Danio rerio)	Actinopterygii	LOC100002756¹	novel protein similar to vertebrate sorbin and SH3 more	56.38(n) 51.46(a)		100002756 XM_001342425.4 XP_001342461.3
fruit fly (Drosophila melanogaster)	Insecta	CAP⁶	CAP	5(a)	1 → many	2R(6156528-6194529)
worm (Caenorhabditis elegans)	Secernentea	sorb-1⁶	Temporarily Assigned Gene name family member (tag-...	13(a)	1 → many	IV(13750312-13770583)

ENSEMBL Gene Tree for SORBS1 (if available)
TreeFam Gene Tree for SORBS1 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for SORBS1 gene

SH3RF3² SH3RF2² SORBS3² SH3RF1² SORBS2² SH3D19²

7 SIMAP similar genes for SORBS1 using alignment to 3 protein entries: SRBS1_HUMAN (see all proteins):

KIAA0894 SH3GL2 SH3GL1 ARHGEF7 SORBS3 DKFZp686N08224

SORBS2

SORBS1 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 10 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs34380766^1,2	C,	--	97071039(+)	`CAGGG-/GAGACTG`	7	--	ds500¹		0	--	--	--	--
rs1360005^1,2	C,F,A,H,	--	97071060(-)	`GTGTTG/AAGGCA`	7	--	ds500¹		112		NS NA EA PA EU CA WA CSA	7254
rs190356098^1,2		--	97071078(+)	`TTGGAA/GGAGAA`	7	--	ds500¹		0	--	--	--	--
rs181717172^1,2		--	97071103(+)	`ATTTTC/TGCCCA`	7	--	ds500¹		0	--	--	--	--
rs114697327^1,2	F,	--	97071110(+)	`CCCACC/TCATAC`	7	--	ds500¹		1		WA	118
rs76072080^1,2	F,	--	97071262(+)	`TGCATC/TACTTT`	7	--	ds500¹		1		WA	118
rs187426627^1,2		--	97071285(+)	`AAATAC/TGAACA`	7	--	ds500¹		0	--	--	--	--
rs3814147^1,2	C,F,A,H,	--	97071334(+)	`ATTAAG/TTCAGA`	7	--	ds500¹		21		EA NS NA CSA WA	3536
rs56268283^1,2	C,	--	97071335(+)	`TTAATG/TCAGAG`	7	--	ds500¹		0	--	--	--	--
rs3814148^1,2	C,F,A,H,	--	97071364(+)	`TGAGAG/AAAAAG`	7	--	ds500¹		25		NS EA NA WA CSA	2768

HapMap Linkage Disequilibrium report for SORBS1 (97071528 - 97321171 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 4 variations for SORBS1
3 CNVs: 61052 65767 43256
1 Indel: 101017
Human Gene Mutation Database (HGMD): SORBS1

SABiosciences Cancer Mutation PCR Assays

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

SORBS1 for disorders           About GeneDecksing

OMIM gene information: 605264    OMIM disorders: --

8 diseases for SORBS1:    About MalaCards

insulin resistance hyperandrogenism obesity alzheimer's disease

hypertension cholesterol schizophrenia neuronitis

2 Novoseek disease relationships for SORBS1 gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
insulin resistance	28.4	4	11532984 (2), 18394047 (1)
obesity	6.15	6	11532984 (3), 12849814 (1)

Genetic Association Database (GAD): SORBS1
Human Genome Epidemiology (HuGE) Navigator: SORBS1 (11 documents)

Export disorders for SORBS1 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for SORBS1 gene, integrated from 9 sources (see all 70):
(articles sorted by number of sources associating them with SORBS1)

Utopia: connect your pdf to the dynamic
world of online information

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. (PubMed id 11532984)^{1, 2, 4, 9} Lin W.-H.... Chuang L.-M. (2001)
Paxillin and ponsin interact in nascent costameres of muscle cells. (PubMed id 17462669)^{1, 2, 9} Gehmlich K....Furst D.O. (2007)
Ponsin/SH3P12: an l-afadin- and vinculin-binding protein localized at cell-cell and cell-matrix adherens junctions. (PubMed id 10085297)^{1, 3, 9} Mandai K....Takai Y. (1999)
Frequency of the T228A polymorphism in the SORBS1 gene in children with premature pubarche and in adolescent girls with hyperandrogenism. (PubMed id 12849814)^{1, 4, 9} Witchel S.F....Kammerer C. (2003)
Cloning, mapping, and characterization of the human sorbin and SH3 domain containing 1 (SORBS1) gene: a protein associated with c-Abl during insulin signaling in the hepatoma cell line Hep3B. (PubMed id 11374898)^{1, 2, 9} Lin W.-H....Chuang L.-M. (2001)
Ataxin-7 interacts with a Cbl-associated protein that it recruits into neuronal intranuclear inclusions. (PubMed id 11371513)^{1, 2, 9} Lebre A.-S.... Brice A. (2001)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
The c-Cbl-associated protein and c-Cbl are two new partners of the SH2-containing inositol polyphosphate 5-phosphatase SHIP2. (PubMed id 12504111)^{1, 2} Vandenbroere I.... Pirson I. (2003)
Polymorphisms 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. (PubMed id 12395215)^{1, 4} Nieters A....Linseisen J. (2002)
Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PubMed id 11230166)^{1, 2} Wiemann S.... Poustka A. (2001)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 10580	HGNC: 14565	AceView: SORBS1	Ensembl:ENSG00000095637	euGenes: HUgn10580
ECgene: SORBS1	Kegg: 10580	H-InvDB: SORBS1

(According to HUGE)
About This Section

HUGE: KIAA1296 KIAA0894

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for SORBS1	Pharmacogenomics, SNPs, Pathways

Intellectual Property for SORBS1 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for SORBS1 gene:
Search GeneIP for patents involving SORBS1

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

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SORBS1 Gene

sorbin and SH3 domain containing 1

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SORBS1 (Gene Symbol)
Sorbin And SH3 Domain Containing 1
SH3D5
CAP
KIAA1296
SH3P12
Ponsin
SH3-Domain Protein 5 (Ponsin)
C-Cbl-Associated Protein
SH3 Domain Protein 5
FLJ12406
Sh3p12
FLAF2
R85FL
SORB1
C-Cbl Associated Protein
Fas-Ligand Associated Factor 2
Sorbin And SH3 Domain-Containing Protein 1
KIAA0894
Ponsin

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SORBS1 Gene

sorbin and SH3 domain containing 1

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