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INSR insulin receptor [ Homo sapiens (human) ]

Gene ID: 3643, updated on 7-Dec-2014
Official Symbol
INSRprovided by HGNC
Official Full Name
insulin receptorprovided by HGNC
Primary source
HGNC:HGNC:6091
See related
Ensembl:ENSG00000171105; HPRD:00975; MIM:147670; Vega:OTTHUMG00000181992
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
HHF5; CD220
Summary
After removal of the precursor signal peptide, the insulin receptor precursor is post-translationally cleaved into two chains (alpha and beta) that are covalently linked. Binding of insulin to the insulin receptor (INSR) stimulates glucose uptake. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
See INSR in Epigenomics, MapViewer
Location:
19p13.3-p13.2
Exon count:
23
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 19 NC_000019.10 (7112255..7294328, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (7112266..7294011, complement)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene methyl-CpG binding domain protein 3-like 3 Neighboring gene zinc finger protein 557 Neighboring gene uncharacterized LOC100996405 Neighboring gene Rho/Rac guanine nucleotide exchange factor (GEF) 18 Neighboring gene uncharacterized LOC100128573 Neighboring gene peroxisomal biogenesis factor 11 gamma

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Hyperinsulinemic hypoglycemia familial 5
MedGen: C1864952 OMIM: 609968 GeneReviews: Not available
Compare labs
Insulin-resistant diabetes mellitus AND acanthosis nigricans
MedGen: C0271690 OMIM: 610549 GeneReviews: Not available
Compare labs
Leprechaunism syndrome
MedGen: C0265344 OMIM: 246200 GeneReviews: Not available
Compare labs
Pineal hyperplasia AND diabetes mellitus syndrome
MedGen: C0271695 OMIM: 262190 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
A meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid function.
NHGRI GWA Catalog
Discovery and refinement of loci associated with lipid levels.
NHGRI GWA Catalog
Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.
NHGRI GWA Catalog
Genome-wide association study identifies eight new risk loci for polycystic ovary syndrome.
NHGRI GWA Catalog
Genome-wide meta-analysis for severe diabetic retinopathy.
NHGRI GWA Catalog
Hundreds of variants clustered in genomic loci and biological pathways affect human height.
NHGRI GWA Catalog
Novel associations for hypothyroidism include known autoimmune risk loci.
NHGRI GWA Catalog
  • AGE/RAGE pathway, organism-specific biosystem (from WikiPathways)
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  • AMPK signaling pathway, organism-specific biosystem (from KEGG)
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  • Aldosterone-regulated sodium reabsorption, organism-specific biosystem (from KEGG)
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  • DNA damage response (only ATM dependent), organism-specific biosystem (from WikiPathways)
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    HIF-1 signaling pathway, organism-specific biosystemHypoxia-inducible factor 1 (HIF-1) is a transcription factor that functions as a master regulator of oxygen homeostasis. It consists of two subunits: an inducibly-expressed HIF-1alpha subunit and a c...
  • IRS activation, organism-specific biosystem (from REACTOME)
    IRS activation, organism-specific biosystemUsing receptor mutagenesis studies it is known that IRS1 via its PTB domain binds to the insulin receptor at the juxtamembrane region at tyrosine 972. The interaction is further stabilized by the PH ...
  • IRS-related events, organism-specific biosystem (from REACTOME)
    IRS-related events, organism-specific biosystemIRS is one of the mediators of insulin signalling events. It is activated by phosphorylation and triggers a cascade of events involving PI3K, SOS, RAF and the MAP kinases. The proteins mentioned unde...
  • Insulin Pathway, organism-specific biosystem (from Pathway Interaction Database)
    Insulin Pathway, organism-specific biosystem
    Insulin Pathway
  • Insulin Signaling, organism-specific biosystem (from WikiPathways)
    Insulin Signaling, organism-specific biosystemInsulin signaling influences energy metabolism as well as growth. The presence of insulin signals the fed state, and this signal is passed via the AKT branch, which leads to the uptake of glucose fro...
  • Insulin receptor recycling, organism-specific biosystem (from REACTOME)
    Insulin receptor recycling, organism-specific biosystemTriggered by acidification of the endosome, insulin dissociates from the receptor and is degraded. The receptor is dephosphorylated and re-integrated into the plasma membrane, ready to be activated a...
  • Insulin receptor signalling cascade, organism-specific biosystem (from REACTOME)
    Insulin receptor signalling cascade, organism-specific biosystemAutophosphorylation of the insulin receptor triggers a series of signalling events, mediated by SHC or IRS, and resulting in activation of the Ras/RAF and MAP kinase cascades. A second effect of the ...
  • Insulin signaling pathway, organism-specific biosystem (from KEGG)
    Insulin signaling pathway, organism-specific biosystemInsulin binding to its receptor results in the tyrosine phosphorylation of insulin receptor substrates (IRS) by the insulin receptor tyrosine kinase (INSR). This allows association of IRSs with the r...
  • Insulin signaling pathway, conserved biosystem (from KEGG)
    Insulin signaling pathway, conserved biosystemInsulin binding to its receptor results in the tyrosine phosphorylation of insulin receptor substrates (IRS) by the insulin receptor tyrosine kinase (INSR). This allows association of IRSs with the r...
  • Insulin-mediated glucose transport, organism-specific biosystem (from Pathway Interaction Database)
    Insulin-mediated glucose transport, organism-specific biosystem
    Insulin-mediated glucose transport
  • Non-alcoholic fatty liver disease (NAFLD), organism-specific biosystem (from KEGG)
    Non-alcoholic fatty liver disease (NAFLD), organism-specific biosystemNon-alcoholic fatty liver disease (NAFLD) represents a spectrum ranging from simple steatosis to more severe steatohepatitis with hepatic inflammation and fibrosis, known as nonalcoholic steatohepati...
  • Non-alcoholic fatty liver disease (NAFLD), conserved biosystem (from KEGG)
    Non-alcoholic fatty liver disease (NAFLD), conserved biosystemNon-alcoholic fatty liver disease (NAFLD) represents a spectrum ranging from simple steatosis to more severe steatohepatitis with hepatic inflammation and fibrosis, known as nonalcoholic steatohepati...
  • Ovarian steroidogenesis, organism-specific biosystem (from KEGG)
    Ovarian steroidogenesis, organism-specific biosystemThe ovarian steroids, 17-beta estradiol (E2) and progesterone (P4), are critical for normal uterine function, establishment and maintenance of pregnancy, and mammary gland development. Furthermore, t...
  • Ovarian steroidogenesis, conserved biosystem (from KEGG)
    Ovarian steroidogenesis, conserved biosystemThe ovarian steroids, 17-beta estradiol (E2) and progesterone (P4), are critical for normal uterine function, establishment and maintenance of pregnancy, and mammary gland development. Furthermore, t...
  • PI3K-Akt signaling pathway, organism-specific biosystem (from KEGG)
    PI3K-Akt signaling pathway, organism-specific biosystemThe phosphatidylinositol 3' -kinase(PI3K)-Akt signaling pathway is activated by many types of cellular stimuli or toxic insults and regulates fundamental cellular functions such as transcription, tra...
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    PI3K-Akt signaling pathway, conserved biosystemThe phosphatidylinositol 3' -kinase(PI3K)-Akt signaling pathway is activated by many types of cellular stimuli or toxic insults and regulates fundamental cellular functions such as transcription, tra...
  • Rap1 signaling pathway, organism-specific biosystem (from KEGG)
    Rap1 signaling pathway, organism-specific biosystemRap1 is a small GTPase that controls diverse processes, such as cell adhesion, cell-cell junction formation and cell polarity. Like all G proteins, Rap1 cycles between an inactive GDP-bound and an ac...
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    Rap1 signaling pathway, conserved biosystemRap1 is a small GTPase that controls diverse processes, such as cell adhesion, cell-cell junction formation and cell polarity. Like all G proteins, Rap1 cycles between an inactive GDP-bound and an ac...
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    Ras signaling pathway, organism-specific biosystemThe Ras proteins are GTPases that function as molecular switches for signaling pathways regulating cell proliferation, survival, growth, migration, differentiation or cytoskeletal dynamism. Ras prote...
  • SHC activation, organism-specific biosystem (from REACTOME)
    SHC activation, organism-specific biosystemSHC interacts via its SH2 domain with the carboxyterminal phosphorylated tyrosines of the insulin receptor. As a result, SHC is tyrosine phosphorylated (Tyr317) by the insulin receptor, later falling...
  • SHC-related events, organism-specific biosystem (from REACTOME)
    SHC-related events, organism-specific biosystemSHC is one of the mediators of insulin signalling events. It is activated by phosphorylation and triggers a cascade of events involving SOS, RAF and the MAP kinases.
  • Selenium Pathway, organism-specific biosystem (from WikiPathways)
    Selenium Pathway, organism-specific biosystem
    Selenium Pathway
  • Signal Transduction, organism-specific biosystem (from REACTOME)
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  • Signal attenuation, organism-specific biosystem (from REACTOME)
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  • Signaling by Insulin receptor, organism-specific biosystem (from REACTOME)
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  • Signaling events mediated by PTP1B, organism-specific biosystem (from Pathway Interaction Database)
    Signaling events mediated by PTP1B, organism-specific biosystem
    Signaling events mediated by PTP1B
  • Signaling events mediated by TCPTP, organism-specific biosystem (from Pathway Interaction Database)
    Signaling events mediated by TCPTP, organism-specific biosystem
    Signaling events mediated by TCPTP
  • Type II diabetes mellitus, organism-specific biosystem (from KEGG)
    Type II diabetes mellitus, organism-specific biosystemInsulin resistance is strongly associated with type II diabetes. "Diabetogenic" factors including FFA, TNFalpha and cellular stress induce insulin resistance through inhibition of IRS1 functions. Ser...
  • Type II diabetes mellitus, organism-specific biosystem (from WikiPathways)
    Type II diabetes mellitus, organism-specific biosystemInsulin resistance is strongly associated with type II diabetes. "Diabetogenic" factors including FFA, TNFalpha and cellular stress induce insulin resistance through inhibition of IRS1 functions. Ser...
  • Type II diabetes mellitus, conserved biosystem (from KEGG)
    Type II diabetes mellitus, conserved biosystemInsulin resistance is strongly associated with type II diabetes. "Diabetogenic" factors including FFA, TNFalpha and cellular stress induce insulin resistance through inhibition of IRS1 functions. Ser...
  • cGMP-PKG signaling pathway, organism-specific biosystem (from KEGG)
    cGMP-PKG signaling pathway, organism-specific biosystemCyclic GMP (cGMP) is the intracellular second messenger that mediates the action of nitric oxide (NO) and natriuretic peptides (NPs), regulating a broad array of physiologic processes. The elevated i...
  • cGMP-PKG signaling pathway, conserved biosystem (from KEGG)
    cGMP-PKG signaling pathway, conserved biosystemCyclic GMP (cGMP) is the intracellular second messenger that mediates the action of nitric oxide (NO) and natriuretic peptides (NPs), regulating a broad array of physiologic processes. The elevated i...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IDA
Inferred from Direct Assay
more info
PubMed 
GTP binding IDA
Inferred from Direct Assay
more info
PubMed 
PTB domain binding IPI
Inferred from Physical Interaction
more info
PubMed 
insulin binding IDA
Inferred from Direct Assay
more info
PubMed 
insulin binding IPI
Inferred from Physical Interaction
more info
PubMed 
insulin receptor substrate binding IPI
Inferred from Physical Interaction
more info
PubMed 
insulin-activated receptor activity IDA
Inferred from Direct Assay
more info
PubMed 
insulin-like growth factor I binding IPI
Inferred from Physical Interaction
more info
PubMed 
insulin-like growth factor II binding IPI
Inferred from Physical Interaction
more info
PubMed 
insulin-like growth factor receptor binding IDA
Inferred from Direct Assay
more info
PubMed 
phosphatidylinositol 3-kinase binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein tyrosine kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
protein tyrosine kinase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
receptor signaling protein tyrosine kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
G-protein coupled receptor signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
activation of MAPK activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
activation of protein kinase B activity IDA
Inferred from Direct Assay
more info
PubMed 
activation of protein kinase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
carbohydrate metabolic process IEA
Inferred from Electronic Annotation
more info
 
cellular response to growth factor stimulus IEA
Inferred from Electronic Annotation
more info
 
cellular response to insulin stimulus IDA
Inferred from Direct Assay
more info
PubMed 
epidermis development IEA
Inferred from Electronic Annotation
more info
 
exocrine pancreas development IEA
Inferred from Electronic Annotation
more info
 
glucose homeostasis IMP
Inferred from Mutant Phenotype
more info
PubMed 
heart morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
insulin receptor signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
insulin receptor signaling pathway TAS
Traceable Author Statement
more info
 
male sex determination IEA
Inferred from Electronic Annotation
more info
 
peptidyl-tyrosine autophosphorylation IEA
Inferred from Electronic Annotation
more info
 
peptidyl-tyrosine phosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of DNA replication IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of MAPK cascade IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of cell migration IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of cell proliferation IC
Inferred by Curator
more info
PubMed 
positive regulation of cell proliferation IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of developmental growth IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of glucose import IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of glucose import NAS
Non-traceable Author Statement
more info
PubMed 
positive regulation of glycogen biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of glycolytic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of mitosis IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of nitric oxide biosynthetic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of protein kinase B signaling IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of protein phosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of respiratory burst IDA
Inferred from Direct Assay
more info
PubMed 
protein autophosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
protein autophosphorylation IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein heterotetramerization IDA
Inferred from Direct Assay
more info
PubMed 
regulation of embryonic development IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of transcription, DNA-templated IMP
Inferred from Mutant Phenotype
more info
PubMed 
signal transduction by phosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
transformation of host cell by virus IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
caveola IDA
Inferred from Direct Assay
more info
PubMed 
endosome membrane TAS
Traceable Author Statement
more info
 
extracellular vesicular exosome IDA
Inferred from Direct Assay
more info
PubMed 
insulin receptor complex IMP
Inferred from Mutant Phenotype
more info
PubMed 
integral component of plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 
membrane IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane IC
Inferred by Curator
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 
receptor complex IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
insulin receptor
Names
insulin receptor
IR
NP_000199.2
NP_001073285.1

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_008852.1 

    Range
    5001..186746
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000208.2NP_000199.2  insulin receptor isoform Long preproprotein

    See proteins identical to NP_000199.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (Long).
    Source sequence(s)
    AC010606, AC125387, BC117172, M10051
    Consensus CDS
    CCDS12176.1
    UniProtKB/Swiss-Prot
    P06213
    Conserved Domains (6) summary
    cd05061
    Location:10161303
    PTKc_InsR; Catalytic domain of the Protein Tyrosine Kinase, Insulin Receptor
    cd00063
    Location:867944
    FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
    cd00064
    Location:234281
    FU; Furin-like repeats. Cysteine rich region. Exact function of the domain is not known. Furin is a serine-kinase dependent proprotein processor. Other members of this family include endoproteases and cell surface receptors.
    pfam00757
    Location:179340
    Furin-like; Furin-like cysteine rich region
    pfam01030
    Location:359472
    Recep_L_domain; Receptor L domain
    pfam07714
    Location:10231290
    Pkinase_Tyr; Protein tyrosine kinase
  2. NM_001079817.1NP_001073285.1  insulin receptor isoform Short preproprotein

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (Short) has the same N- and C-termini but is shorter compared to isoform Long.
    Source sequence(s)
    AC010606, AC125387, BC117172, M10051
    Consensus CDS
    CCDS42487.1
    UniProtKB/Swiss-Prot
    P06213
    Related
    ENSP00000342838, OTTHUMP00000268022, ENST00000341500, OTTHUMT00000458543
    Conserved Domains (6) summary
    cd05061
    Location:10041291
    PTKc_InsR; Catalytic domain of the Protein Tyrosine Kinase, Insulin Receptor
    cd00063
    Location:855932
    FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
    cd00064
    Location:234281
    FU; Furin-like repeats. Cysteine rich region. Exact function of the domain is not known. Furin is a serine-kinase dependent proprotein processor. Other members of this family include endoproteases and cell surface receptors.
    pfam00757
    Location:179340
    Furin-like; Furin-like cysteine rich region
    pfam01030
    Location:359472
    Recep_L_domain; Receptor L domain
    pfam07714
    Location:10111278
    Pkinase_Tyr; Protein tyrosine kinase

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000019.10 

    Range
    7112255..7294328
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006722744.1XP_006722807.1  

    Conserved Domains (6) summary
    cd05061
    Location:10031290
    PTKc_InsR; Catalytic domain of the Protein Tyrosine Kinase, Insulin Receptor
    cd00063
    Location:855932
    FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
    cd00064
    Location:234281
    FU; Furin-like repeats. Cysteine rich region. Exact function of the domain is not known. Furin is a serine-kinase dependent proprotein processor. Other members of this family include endoproteases and cell surface receptors.
    pfam00757
    Location:179340
    Furin-like; Furin-like cysteine rich region
    pfam01030
    Location:359472
    Recep_L_domain; Receptor L domain
    pfam07714
    Location:10101277
    Pkinase_Tyr; Protein tyrosine kinase
  2. XM_006722743.1XP_006722806.1  

    Conserved Domains (6) summary
    cd05061
    Location:10151302
    PTKc_InsR; Catalytic domain of the Protein Tyrosine Kinase, Insulin Receptor
    cd00063
    Location:867944
    FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
    cd00064
    Location:234281
    FU; Furin-like repeats. Cysteine rich region. Exact function of the domain is not known. Furin is a serine-kinase dependent proprotein processor. Other members of this family include endoproteases and cell surface receptors.
    pfam00757
    Location:179340
    Furin-like; Furin-like cysteine rich region
    pfam01030
    Location:359472
    Recep_L_domain; Receptor L domain
    pfam07714
    Location:10221289
    Pkinase_Tyr; Protein tyrosine kinase
  3. XM_005259554.1XP_005259611.1  

    Conserved Domains (6) summary
    cd05061
    Location:9791266
    PTKc_InsR; Catalytic domain of the Protein Tyrosine Kinase, Insulin Receptor
    cd00063
    Location:830907
    FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
    cd00064
    Location:197244
    FU; Furin-like repeats. Cysteine rich region. Exact function of the domain is not known. Furin is a serine-kinase dependent proprotein processor. Other members of this family include endoproteases and cell surface receptors.
    pfam00757
    Location:142303
    Furin-like; Furin-like cysteine rich region
    pfam01030
    Location:322435
    Recep_L_domain; Receptor L domain
    pfam07714
    Location:9861253
    Pkinase_Tyr; Protein tyrosine kinase

Alternate CHM1_1.1

Genomic

  1. NC_018930.2 

    Range
    7111894..7294424
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000151.1 

    Range
    6846024..7028322
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)