INSRR insulin receptor related receptor [Homo sapiens (human)] - Gene

Summary

Official Symbol: INSRRprovided by HGNC
Official Full Name: insulin receptor related receptorprovided by HGNC
Primary source: HGNC:HGNC:6093
See related: Ensembl:ENSG00000027644 MIM:147671; AllianceGenome:HGNC:6093
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: IRR
Summary: Enables transmembrane receptor protein tyrosine kinase activity. Involved in actin cytoskeleton organization; cellular response to alkaline pH; and protein autophosphorylation. Part of receptor complex. [provided by Alliance of Genome Resources, Oct 2024]
Expression: Biased expression in kidney (RPKM 1.2), testis (RPKM 1.1) and 5 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1q23.1

Exon count:: 22

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (156840063..156859117, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (155976882..155995951, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (156809855..156828909, complement)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Identification of INSRR as an immune-related gene in the tumor microenvironment of glioblastoma by integrated bioinformatics analysis.
Title: Identification of INSRR as an immune-related gene in the tumor microenvironment of glioblastoma by integrated bioinformatics analysis.
Probing Structure and Function of Alkali Sensor IRR with Monoclonal Antibodies.
Title: Probing Structure and Function of Alkali Sensor IRR with Monoclonal Antibodies.
ectoIRR's sensing of alkaline conditions involves additional molecular mechanisms, for example engagement of receptor juxtamembrane regions or the surrounding lipid environment.
Title: The dimeric ectodomain of the alkali-sensing insulin receptor-related receptor (ectoIRR) has a droplike shape.
the extensive glycosylation of FnIII-2/3 provides steric hindrance for the alkali-induced rearrangement of the IRR ectodomain.
Title: Site-Directed Mutagenesis of the Fibronectin Domains in Insulin Receptor-Related Receptor.
IRR activation involves two separate centers of pH-dependent rearrangements that act synergistically to induce a major conformational change in the IRR molecule, resulting in internal kinase domains rapprochement and autophosphorylation.
Title: Mapping of alkali-sensing sites of the insulin receptor-related receptor. The role of L2 and fibronectin domains.
IRR activation is not based on a single residue deprotonation in the IRR ectodomain but rather involves synergistic conformational changes at multiple points.
Title: Structural determinants of the insulin receptor-related receptor activation by alkali.
Insulin receptor-related receptor as an extracellular pH sensor involved in the regulation of acid-base balance. (Review)
Title: Insulin receptor-related receptor as an extracellular pH sensor involved in the regulation of acid-base balance.
Analysis of structural determinants of alkali sensor IRR positive cooperativity.
Title: Analysis of structural determinants of alkali sensor IRR positive cooperativity.
Observational study of gene-disease association. (HuGE Navigator)
Title: A large-scale candidate gene association study of age at menarche and age at natural menopause.
IRR mRNA expression was found in 25 (51%) neuroblastomas and correlated with stages 1, 2, 3, and 4S disease and with age.
Title: Coexpression of insulin receptor-related receptor and insulin-like growth factor 1 receptor correlates with enhanced apoptosis and dedifferentiation in human neuroblastomas.

Submit: New GeneRIF Correction See all GeneRIFs (12)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables insulin receptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables insulin receptor substrate binding	IBA Inferred from Biological aspect of Ancestor more info
enables phosphatidylinositol 3-kinase binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables transmembrane receptor protein tyrosine kinase activity	IDA Inferred from Direct Assay more info	PubMed
enables transmembrane receptor protein tyrosine kinase activity	NAS Non-traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in actin cytoskeleton organization	IDA Inferred from Direct Assay more info	PubMed
involved_in cell surface receptor protein tyrosine kinase signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in cell surface receptor protein tyrosine kinase signaling pathway	NAS Non-traceable Author Statement more info	PubMed
involved_in cellular response to alkaline pH	IDA Inferred from Direct Assay more info	PubMed
involved_in insulin receptor signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in male sex determination	IEA Inferred from Electronic Annotation more info
involved_in multicellular organism development	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein autophosphorylation	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in axon	IBA Inferred from Biological aspect of Ancestor more info
part_of insulin receptor complex	IBA Inferred from Biological aspect of Ancestor more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	NAS Non-traceable Author Statement more info	PubMed
part_of receptor complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: insulin receptor-related protein

Names: IR-related receptor

NP_055030.1

EC 2.7.10.1

NCBI Reference Sequences (RefSeq)

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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.

mRNA and Protein(s)

NM_014215.3 → NP_055030.1 insulin receptor-related protein precursor

See identical proteins and their annotated locations for NP_055030.1

Status: VALIDATED

Source sequence(s)

AK310760, AL158169, J05046

Consensus CDS

CCDS1160.1

UniProtKB/Swiss-Prot

O60724, P14616, Q5VZS3

Related

ENSP00000357178.3, ENST00000368195.4

Conserved Domains (6) summary

cd05032
Location:972 → 1248

PTKc_InsR_like; Catalytic domain of Insulin Receptor-like Protein Tyrosine Kinases

cd00063
Location:819 → 908

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:228 → 275

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:173 → 326

Furin-like; Furin-like cysteine rich region

pfam01030
Location:346 → 460

Recep_L_domain; Receptor L domain

pfam07714
Location:979 → 1246

Pkinase_Tyr; Protein tyrosine kinase