HIP1R huntingtin interacting protein 1 related [Homo sapiens (human)] - Gene

Summary

Official Symbol: HIP1Rprovided by HGNC
Official Full Name: huntingtin interacting protein 1 relatedprovided by HGNC
Primary source: HGNC:HGNC:18415
See related: Ensembl:ENSG00000130787 MIM:605613; AllianceGenome:HGNC:18415
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: HIP3; HIP12; ILWEQ
Summary: Enables several functions, including phosphatidylinositol phosphate binding activity; phosphatidylinositol-3,4-bisphosphate binding activity; and protein homodimerization activity. Involved in several processes, including positive regulation of signal transduction; protein stabilization; and regulation of organelle organization. Located in clathrin-coated vesicle; cytosol; and ruffle membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in brain (RPKM 19.4), kidney (RPKM 16.5) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 12q24.31

Exon count:: 33

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (122834748..122862961)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (122830187..122858212)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (123319295..123347508)

Chromosome 12 - NC_000012.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: 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?

DNA methylation and miR-92a-3p-mediated repression of HIP1R promotes pancreatic cancer progression by activating the PI3K/AKT pathway.
Title: DNA methylation and miR-92a-3p-mediated repression of HIP1R promotes pancreatic cancer progression by activating the PI3K/AKT pathway.
Flurbiprofen inhibits cell proliferation in thyroid cancer through interrupting HIP1R-induced endocytosis of PTEN.
Title: Flurbiprofen inhibits cell proliferation in thyroid cancer through interrupting HIP1R-induced endocytosis of PTEN.
HIP1R acts as a tumor suppressor in gastric cancer by promoting cancer cell apoptosis and inhibiting migration and invasion through modulating Akt.
Title: HIP1R acts as a tumor suppressor in gastric cancer by promoting cancer cell apoptosis and inhibiting migration and invasion through modulating Akt.
There is coordinated action of myosin VI and CLCa at the apical surface where these proteins are essential for fission of clathrin-coated pits. Myosin VI and Huntingtin-interacting protein 1-related protein (Hip1R) are mutually exclusive interactors with CLCa, and suggest a model for the sequential function of myosin VI and Hip1R in actin-mediated clathrin-coated vesicle budding.
Title: Clathrin light chain A drives selective myosin VI recruitment to clathrin-coated pits under membrane tension.
HIP1R is a natural regulator of PD-L1 lysosomal degradation, and the functions of HIP1R relied on two sequence stretches- one involved in the interaction with PD-L1 and for the sorting to the lysosome.
Title: HIP1R targets PD-L1 to lysosomal degradation to alter T cell-mediated cytotoxicity.
HIP1R rescued miR-23b/-27b-mediated repression of migration in prostate cancer cells. HIP1R mRNA levels were decreased in seminal vesicle tissue from mice bearing miR-23b/-27b-transduced prostate cancer cell xenografts compared with scrambled controls, suggesting HIP1R is a key functional target of miR-23b/-27b.
Title: The microRNA-23b/-27b cluster suppresses prostate cancer metastasis via Huntingtin-interacting protein 1-related.
our findings support the conclusion that the rs12817488 in CCDC62/HIP1R polymorphism may increase the risk of Parkinson's disease in the Chinese Han population.
Title: The single nucleotide polymorphism Rs12817488 is associated with Parkinson's disease in the Chinese population.
We conclude that HIP1R expression is strongly indicative of survival in diffuse large B-cell lymphoma
Title: Low HIP1R mRNA and protein expression are associated with worse survival in diffuse large B-cell lymphoma patients treated with R-CHOP.
STK39 (rs2102808) and CCDC62/HIP1R (rs12817488) do not appear to influence PD risk.
Title: Genetic association study between STK39 and CCDC62/HIP1R and Parkinson's disease.
HIP1r plays an important role in regulating the attachment of spindle microtubules to chromosomes during mitosis, an event that is required for accurate congression and segregation of chromosomes.
Title: Huntingtin-interacting protein 1-related is required for accurate congression and segregation of chromosomes.

Submit: New GeneRIF Correction See all GeneRIFs (22)

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

EBI GWAS Catalog

Description
Imputation of sequence variants for identification of genetic risks for Parkinson's disease: a meta-analysis of genome-wide association studies. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
Knockdown of huntingtin interacting protein 1 related (HIP1R) by siRNA inhibits HIV-1 replication in HeLa-derived TZM-bl cells	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

G44296 (e-PCR)
- UniSTS:95090

RH15622 (e-PCR)
- UniSTS:91612

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables SH3 domain binding	IEA Inferred from Electronic Annotation more info
enables actin filament binding	IBA Inferred from Biological aspect of Ancestor more info
enables actin filament binding	IDA Inferred from Direct Assay more info	PubMed
enables clathrin adaptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables clathrin binding	IDA Inferred from Direct Assay more info	PubMed
enables clathrin light chain binding	IBA Inferred from Biological aspect of Ancestor more info
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables phosphatidylinositol binding	IDA Inferred from Direct Assay more info	PubMed
enables phosphatidylinositol-3,4,5-trisphosphate binding	IDA Inferred from Direct Assay more info	PubMed
enables phosphatidylinositol-3,4-bisphosphate binding	IBA Inferred from Biological aspect of Ancestor more info
enables phosphatidylinositol-3,4-bisphosphate binding	IDA Inferred from Direct Assay more info	PubMed
enables phosphatidylinositol-3,5-bisphosphate binding	IBA Inferred from Biological aspect of Ancestor more info
enables phosphatidylinositol-3,5-bisphosphate binding	IDA Inferred from Direct Assay more info	PubMed
enables phosphatidylinositol-4,5-bisphosphate binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein heterodimerization activity	IEA Inferred from Electronic Annotation more info
enables protein homodimerization activity	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in actin filament organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in activation of cysteine-type endopeptidase activity involved in apoptotic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in activation of cysteine-type endopeptidase activity involved in apoptotic process	IDA Inferred from Direct Assay more info	PubMed
involved_in clathrin coat assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in digestive system development	IEA Inferred from Electronic Annotation more info
involved_in endocytosis	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of Arp2/3 complex-mediated actin nucleation	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of actin filament polymerization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of apoptotic process	IGI Inferred from Genetic Interaction more info	PubMed
involved_in positive regulation of clathrin coat assembly	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of epidermal growth factor receptor signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway	IGI Inferred from Genetic Interaction more info	PubMed
involved_in positive regulation of platelet-derived growth factor receptor-beta signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of protein binding	IDA Inferred from Direct Assay more info	PubMed
involved_in postsynapse organization	IEA Inferred from Electronic Annotation more info
involved_in protein stabilization	IDA Inferred from Direct Assay more info	PubMed
involved_in receptor-mediated endocytosis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of actin cytoskeleton organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of clathrin-dependent endocytosis	NAS Non-traceable Author Statement more info	PubMed
involved_in regulation of endocytosis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of endocytosis	NAS Non-traceable Author Statement more info	PubMed
involved_in regulation of gastric acid secretion	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in apical plasma membrane	IEA Inferred from Electronic Annotation more info
located_in cell cortex	IEA Inferred from Electronic Annotation more info
located_in clathrin-coated pit	IEA Inferred from Electronic Annotation more info
is_active_in clathrin-coated vesicle	IBA Inferred from Biological aspect of Ancestor more info
located_in clathrin-coated vesicle	IDA Inferred from Direct Assay more info	PubMed
located_in clathrin-coated vesicle membrane	IEA Inferred from Electronic Annotation more info
is_active_in cortical actin cytoskeleton	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoskeleton	IEA Inferred from Electronic Annotation more info
located_in cytosol	IDA Inferred from Direct Assay more info
located_in cytosol	TAS Traceable Author Statement more info
located_in dendrite cytoplasm	ISS Inferred from Sequence or Structural Similarity more info	PubMed
located_in dendritic spine	ISS Inferred from Sequence or Structural Similarity more info	PubMed
located_in glutamatergic synapse	IEA Inferred from Electronic Annotation more info
located_in intracellular membrane-bounded organelle	IDA Inferred from Direct Assay more info
located_in mitochondrion	IEA Inferred from Electronic Annotation more info
located_in neuronal cell body	ISS Inferred from Sequence or Structural Similarity more info	PubMed
located_in perinuclear region of cytoplasm	IEA Inferred from Electronic Annotation more info
located_in plasma membrane	IDA Inferred from Direct Assay more info
located_in postsynaptic density	ISS Inferred from Sequence or Structural Similarity more info	PubMed
located_in ruffle membrane	IDA Inferred from Direct Assay more info	PubMed
located_in synaptic membrane	ISS Inferred from Sequence or Structural Similarity more info	PubMed

General protein information

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Preferred Names: huntingtin-interacting protein 1-related protein

Names: HIP-12; HIP1-related protein; huntingtin interacting protein 12

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_001303097.2 → NP_001290026.1 huntingtin-interacting protein 1-related protein isoform 2

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks several 3' exons and its 3' terminal exon extends past a splice site that is used in variant 1. This results in a novel 3' coding region and 3' UTR, compared to variant 1. It encodes isoform 2 which is shorter and has a distinct C-terminus, compared to isoform 1.

Source sequence(s)

AC027290, AK090537, AK298387, BC067085, DA779723, DN999807

UniProtKB/Swiss-Prot

O75146

UniProtKB/TrEMBL

B3KQW8, B4DPL0

Conserved Domains (4) summary

COG1842
Location:383 → 604

PspA; Phage shock protein A [Transcription, Signal transduction mechanisms]

pfam07651
Location:28 → 300

ANTH; ANTH domain

pfam16515
Location:461 → 559

HIP1_clath_bdg; Clathrin-binding domain of Huntingtin-interacting protein 1

cl23720
Location:349 → 467

RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)
NM_001303099.2 → NP_001290028.1 huntingtin-interacting protein 1-related protein isoform 3

See identical proteins and their annotated locations for NP_001290028.1

Status: VALIDATED

Description

Transcript Variant: This variant (3) uses an alternate first exon and lacks several 3' exons, and its 3' terminal exon extends past a splice site that is used in variant 1. This results in novel UTRs and coding regions, compared to variant 1. It encodes isoform 3 which is shorter and has distinct N- and C-termini, compared to isoform 1.

Source sequence(s)

AC027290, AK090537, DA779723

UniProtKB/TrEMBL

B3KQW8

Related

ENST00000535831.5

Conserved Domains (4) summary

COG1842
Location:371 → 592

PspA; Phage shock protein A [Transcription, Signal transduction mechanisms]

pfam07651
Location:17 → 288

ANTH; ANTH domain

pfam16515
Location:449 → 547

HIP1_clath_bdg; Clathrin-binding domain of Huntingtin-interacting protein 1

cl23720
Location:337 → 455

RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)
NM_003959.3 → NP_003950.1 huntingtin-interacting protein 1-related protein isoform 1

See identical proteins and their annotated locations for NP_003950.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).

Source sequence(s)

AB014555, AC027290, DA779723, DN999807

Consensus CDS

CCDS31922.1

UniProtKB/Swiss-Prot

A6NHQ6, O75146, Q6NXG8, Q9UED9

Related

ENSP00000253083.4, ENST00000253083.9

Conserved Domains (5) summary

smart00307
Location:814 → 1012

ILWEQ; I/LWEQ domain

COG1842
Location:383 → 604

PspA; Phage shock protein A [Transcription, Signal transduction mechanisms]

pfam07651
Location:28 → 300

ANTH; ANTH domain

pfam16515
Location:461 → 559

HIP1_clath_bdg; Clathrin-binding domain of Huntingtin-interacting protein 1

cl23720
Location:349 → 467

RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)