Aliases for INSRR Gene

Aliases for INSRR Gene

  • Insulin Receptor Related Receptor 2 3 5
  • IRR 2 3 4
  • Insulin Receptor-Related Protein 3 4
  • IR-Related Receptor 3 4
  • EC 2.7.10.1 4 50
  • EC 2.7.10 50
  • INSRR 5

External Ids for INSRR Gene

Previous GeneCards Identifiers for INSRR Gene

  • GC01M154679
  • GC01M152575
  • GC01M153588
  • GC01M154027
  • GC01M153623
  • GC01M155076
  • GC01M156809
  • GC01M128169

Summaries for INSRR Gene

GeneCards Summary for INSRR Gene

INSRR (Insulin Receptor Related Receptor) is a Protein Coding gene. Diseases associated with INSRR include Rickettsialpox and Regular Astigmatism. Among its related pathways are Nanog in Mammalian ESC Pluripotency and Pathways Affected in Adenoid Cystic Carcinoma. Gene Ontology (GO) annotations related to this gene include transferase activity, transferring phosphorus-containing groups and protein tyrosine kinase activity. An important paralog of this gene is IGF1R.

UniProtKB/Swiss-Prot Summary for INSRR Gene

  • Receptor with tyrosine-protein kinase activity. Functions as a pH sensing receptor which is activated by increased extracellular pH. Activates an intracellular signaling pathway that involves IRS1 and AKT1/PKB.

Gene Wiki entry for INSRR Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for INSRR Gene

Genomics for INSRR Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for INSRR Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around INSRR on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for INSRR

Top Transcription factor binding sites by QIAGEN in the INSRR gene promoter:
  • AP-1
  • GR
  • p53
  • Sp1

Genomic Locations for INSRR Gene

Latest Assembly
chr1:156,840,063-156,859,117
(GRCh38/hg38)
Size:
19,055 bases
Orientation:
Minus strand

Previous Assembly
chr1:156,809,855-156,828,909
(GRCh37/hg19 by Entrez Gene)
Size:
19,055 bases
Orientation:
Minus strand

chr1:156,809,855-156,828,810
(GRCh37/hg19 by Ensembl)
Size:
18,956 bases
Orientation:
Minus strand

Genomic View for INSRR Gene

Genes around INSRR on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
INSRR Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for INSRR Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for INSRR Gene

Proteins for INSRR Gene

  • Protein details for INSRR Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P14616-INSRR_HUMAN
    Recommended name:
    Insulin receptor-related protein
    Protein Accession:
    P14616
    Secondary Accessions:
    • O60724
    • Q5VZS3

    Protein attributes for INSRR Gene

    Size:
    1297 amino acids
    Molecular mass:
    143720 Da
    Quaternary structure:
    • Probable tetramer of 2 alpha and 2 beta chains linked by disulfide bonds. The alpha chains contribute to the formation of the ligand-binding domain, while the beta chains carry the kinase domain.

neXtProt entry for INSRR Gene

Selected DME Specific Peptides for INSRR Gene

P14616:
  • PESLKDG
  • RDLAARN
  • YALVIFEM
  • FFKNLKLIRGD
  • YVPDEWEV
  • DEWEVPR
  • GVVSQGQPT
  • GLLPVRWM
  • GVVLWEI
  • FGMVYEG
  • LFPNLAVIRG
  • KFVHRDLAARNCMV
  • HVVRLLGV
  • EGHLQILLMF
  • ECLGGCS
  • GDLKSHLRSLRP
  • TDYLLLFRVYGLESL
  • VRVEKNQELCHLSTIDWGLLQP
  • LKPWTQYA
  • TDYRCWTSSHCQ
  • EIADGMAYL
  • SSIFCHKCEGLCPKECKVGTKTIDS
  • FVHRDLA
  • LAALGFFY
  • QPYQGLSNE
  • IVGNKLGEECADVCPG

Post-translational modifications for INSRR Gene

  • Autophosphorylated on tyrosine residues between pH 7.9 and pH 10.5.
  • Glycosylation at Asn47, Asn311, Asn411, Asn492, Asn528, Asn616, Asn634, Asn756, Asn885, and Asn898
  • Modification sites at PhosphoSitePlus

Other Protein References for INSRR Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for INSRR Gene

Protein Domains for INSRR Gene

InterPro:
Blocks:
  • Tyrosine protein kinase, active site
  • Epidermal growth-factor receptor (EGFR), L domain
  • Furin-like cysteine rich region
  • Furin-like repeat
  • Receptor tyrosine kinase, class II

Suggested Antigen Peptide Sequences for INSRR Gene

GenScript: Design optimal peptide antigens:
  • IR-related receptor (INSRR_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P14616

UniProtKB/Swiss-Prot:

INSRR_HUMAN :
  • The extracellular domain is required for sensing alterations in external pH.
  • Belongs to the protein kinase superfamily. Tyr protein kinase family. Insulin receptor subfamily.
Domain:
  • The extracellular domain is required for sensing alterations in external pH.
Family:
  • Belongs to the protein kinase superfamily. Tyr protein kinase family. Insulin receptor subfamily.
genes like me logo Genes that share domains with INSRR: view

Function for INSRR Gene

Molecular function for INSRR Gene

UniProtKB/Swiss-Prot Function:
Receptor with tyrosine-protein kinase activity. Functions as a pH sensing receptor which is activated by increased extracellular pH. Activates an intracellular signaling pathway that involves IRS1 and AKT1/PKB.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + L-tyrosyl-[protein] = ADP + H(+) + O-phospho-L-tyrosyl-[protein]; Xref=Rhea:RHEA:10596, Rhea:RHEA-COMP:10136, Rhea:RHEA-COMP:10137, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:46858, ChEBI:CHEBI:82620, ChEBI:CHEBI:456216; EC=2.7.10.1; Evidence={ECO:0000255|PROSITE-ProRule:PRU10028};.
GENATLAS Biochemistry:
insulin receptor,related receptor,expressed in subsets of neuron,renal distal tubules,enterochromaffin-like cells of the fundic stomach and in the islets of pancreas,mutated in a region,involved in the susceptibility to type II non insulin dependent diabetes

Enzyme Numbers (IUBMB) for INSRR Gene

Phenotypes From GWAS Catalog for INSRR Gene

Gene Ontology (GO) - Molecular Function for INSRR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0004672 protein kinase activity IEA --
GO:0004713 protein tyrosine kinase activity IEA --
GO:0004714 transmembrane receptor protein tyrosine kinase activity IBA,NAS 10226785
GO:0005009 insulin-activated receptor activity IBA 21873635
genes like me logo Genes that share ontologies with INSRR: view
genes like me logo Genes that share phenotypes with INSRR: view

Animal Models for INSRR Gene

MGI Knock Outs for INSRR:

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for INSRR

No data available for Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for INSRR Gene

Localization for INSRR Gene

Subcellular locations from UniProtKB/Swiss-Prot for INSRR Gene

Membrane. Single-pass type I membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for INSRR gene
Compartment Confidence
plasma membrane 4
extracellular 3
nucleus 2
cytosol 2
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1
peroxisome 0

Gene Ontology (GO) - Cellular Components for INSRR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005887 integral component of plasma membrane IBA,NAS 10226785
GO:0005899 insulin receptor complex IBA 21873635
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0030424 axon IBA 21873635
genes like me logo Genes that share ontologies with INSRR: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for INSRR Gene

Pathways & Interactions for INSRR Gene

PathCards logo

SuperPathways for INSRR Gene

SuperPathway Contained pathways
1 GPCR Pathway
.73
.73
.62
.59
.58
.58
.55
.38
2 ERK Signaling
.61
.61
.58
.51
.49
3 Nanog in Mammalian ESC Pluripotency
.61
.61
.59
.48
4 Actin Nucleation by ARP-WASP Complex
.66
.66
.41
5 MAPK Signaling: Mitogen Stimulation Pathway
genes like me logo Genes that share pathways with INSRR: view

Pathways by source for INSRR Gene

1 BioSystems pathway for INSRR Gene
2 KEGG pathways for INSRR Gene
28 Qiagen pathways for INSRR Gene
  • 14-3-3 Induced Intracellular Signaling
  • Actin Nucleation and Branching
  • Actin Nucleation by ARP-WASP Complex
  • Activation of cAMP-Dependent PKA
  • Activation of PKA through GPCR

Gene Ontology (GO) - Biological Process for INSRR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006468 protein phosphorylation IEA --
GO:0007169 transmembrane receptor protein tyrosine kinase signaling pathway IBA,NAS 10226785
GO:0007275 multicellular organism development IBA 21873635
GO:0008286 insulin receptor signaling pathway IEA --
GO:0016310 phosphorylation IEA --
genes like me logo Genes that share ontologies with INSRR: view

No data available for SIGNOR curated interactions for INSRR Gene

Drugs & Compounds for INSRR Gene

(4) Drugs for INSRR Gene - From: DrugBank, DGIdb, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
fostamatinib Approved, Investigational Pharma Target, inhibitor Kinase Inhibitors 0
Linsitinib Investigational Pharma Inhibition, inhibitor IGF1R/IR inhibitor,potent and novel, IGF1R inhibitor, Kinase Inhibitors 0
ATP Investigational Nutra 0

(3) Additional Compounds for INSRR Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
58-64-0
genes like me logo Genes that share compounds with INSRR: view

Transcripts for INSRR Gene

mRNA/cDNA for INSRR Gene

1 REFSEQ mRNAs :
4 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for INSRR

Alternative Splicing Database (ASD) splice patterns (SP) for INSRR Gene

No ASD Table

Relevant External Links for INSRR Gene

GeneLoc Exon Structure for
INSRR

Expression for INSRR Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for INSRR Gene

mRNA differential expression in normal tissues according to GTEx for INSRR Gene

This gene is overexpressed in Kidney - Cortex (x10.4), Testis (x6.3), and Stomach (x4.3).

Protein differential expression in normal tissues from HIPED for INSRR Gene

This gene is overexpressed in Adipocyte (59.2) and Liver, secretome (6.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for INSRR Gene



Protein tissue co-expression partners for INSRR Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for INSRR

SOURCE GeneReport for Unigene cluster for INSRR Gene:

Hs.248138

Evidence on tissue expression from TISSUES for INSRR Gene

  • Kidney(4.4)
  • Pancreas(2.1)
genes like me logo Genes that share expression patterns with INSRR: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for INSRR Gene

Orthologs for INSRR Gene

This gene was present in the common ancestor of animals.

Orthologs for INSRR Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia INSRR 29 30
  • 99.59 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia INSRR 29 30
  • 90.26 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia INSRR 29 30
  • 89.35 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Insrr 29
  • 85.48 (n)
Mouse
(Mus musculus)
Mammalia Insrr 29 16 30
  • 85.43 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia INSRR 30
  • 85 (a)
OneToOne
Chicken
(Gallus gallus)
Aves LOC100857811 29
  • 74.69 (n)
INSRR 30
  • 70 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia INSRR 30
  • 65 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia insrr 29
  • 65.69 (n)
African clawed frog
(Xenopus laevis)
Amphibia MGC68585 29
Fruit Fly
(Drosophila melanogaster)
Insecta CG3837 30 31
  • 27 (a)
OneToMany
CG10702 31
  • 26 (a)
Worm
(Caenorhabditis elegans)
Secernentea daf-2 30
  • 21 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 35 (a)
OneToMany
Species where no ortholog for INSRR was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Zebrafish (Danio rerio)

Evolution for INSRR Gene

ENSEMBL:
Gene Tree for INSRR (if available)
TreeFam:
Gene Tree for INSRR (if available)
Aminode:
Evolutionary constrained regions (ECRs) for INSRR: view image
Alliance of Genome Resources:
Additional Orthologs for INSRR

Paralogs for INSRR Gene

(2) SIMAP similar genes for INSRR Gene using alignment to 2 proteins:

  • INSRR_HUMAN
  • I6U4P1_HUMAN
genes like me logo Genes that share paralogs with INSRR: view

Variants for INSRR Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for INSRR Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
rs1322273300 Uncertain Significance: Familial medullary thyroid carcinoma; Hereditary insensitivity to pain with anhidrosis 156,842,103(-) C/T
NM_014215.3(INSRR):c.3397+9G>A
MISSENSE_VARIANT,INTRON
rs139555558 Uncertain Significance: Hereditary insensitivity to pain with anhidrosis 156,842,095(-) C/A
NM_014215.3(INSRR):c.3397+17G>T
NONSENSE,INTRON
rs140072588 Benign: not provided 156,851,406(-) G/A
NM_014215.3(INSRR):c.1113C>T (p.Ser371=)
SYNONYMOUS_VARIANT,INTRON
rs140808257 Benign: not provided 156,849,409(-) G/C
NM_014215.3(INSRR):c.1281C>G (p.Ser427=)
SYNONYMOUS_VARIANT,INTRON
rs1451820799 Uncertain Significance: Familial medullary thyroid carcinoma 156,842,107(-) TG/T
NM_014215.3(INSRR):c.3397+4del
FRAMESHIFT_VARIANT,INTRON

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for INSRR Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for INSRR Gene

Variant ID Type Subtype PubMed ID
nsv831648 CNV loss 17160897
nsv831659 CNV loss 17160897
nsv998265 CNV gain 25217958

Variation tolerance for INSRR Gene

Residual Variation Intolerance Score: 21.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.86; 83.62% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for INSRR Gene

Human Gene Mutation Database (HGMD)
INSRR
SNPedia medical, phenotypic, and genealogical associations of SNPs for
INSRR
Leiden Open Variation Database (LOVD)
INSRR

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for INSRR Gene

Disorders for INSRR Gene

MalaCards: The human disease database

(6) MalaCards diseases for INSRR Gene - From: COP and GCD

Disorder Aliases PubMed IDs
rickettsialpox
  • rickettsia akari spotted fever
regular astigmatism
siberian tick typhus
  • manchurian typhus
alzheimer disease 15
  • ad15
anhidrosis
  • absence of sweating
- elite association - COSMIC cancer census association via MalaCards
Search INSRR in MalaCards View complete list of genes associated with diseases

Additional Disease Information for INSRR

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with INSRR: view

No data available for UniProtKB/Swiss-Prot and Genatlas for INSRR Gene

Publications for INSRR Gene

  1. Cloning and sequencing of the complete cDNA encoding the human insulin receptor related receptor. (PMID: 10226785) Hänze J … Kiess W (Hormone and metabolic research = Hormon- und Stoffwechselforschung = Hormones et metabolisme 1999) 3 4 22
  2. Localization of the insulin receptor-related receptor gene to human chromosome 1. (PMID: 2249481) Shier P … Watt VM (Cytogenetics and cell genetics 1990) 2 3 22
  3. Primary structure of a putative receptor for a ligand of the insulin family. (PMID: 2768234) Shier P … Watt VM (The Journal of biological chemistry 1989) 2 3 4
  4. Insulin receptor-related receptor as an extracellular alkali sensor. (PMID: 21641549) Deyev IE … Petrenko AG (Cell metabolism 2011) 3 4
  5. A large-scale candidate gene association study of age at menarche and age at natural menopause. (PMID: 20734064) He C … Hunter DJ (Human genetics 2010) 3 40

Products for INSRR Gene

Sources for INSRR Gene