HIP1 huntingtin interacting protein 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: HIP1provided by HGNC
Official Full Name: huntingtin interacting protein 1provided by HGNC
Primary source: HGNC:HGNC:4913
See related: Ensembl:ENSG00000127946 MIM:601767; AllianceGenome:HGNC:4913
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: SHON; HIP-I; ILWEQ; SHONbeta; SHONgamma
Summary: The product of this gene is a membrane-associated protein that functions in clathrin-mediated endocytosis and protein trafficking within the cell. The encoded protein binds to the huntingtin protein in the brain; this interaction is lost in Huntington's disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
Expression: Ubiquitous expression in brain (RPKM 11.4), lung (RPKM 10.8) and 23 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 7q11.23

Exon count:: 34

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	7	NC_000007.14 (75533298..75738941, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	7	NC_060931.1 (76820630..77026024, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (75162619..75368259, complement)

Chromosome 7 - NC_000007.14 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?

MOBP and HIP1 in multiple system atrophy: New alpha-synuclein partners in glial cytoplasmic inclusions implicated in the disease pathogenesis.
Title: MOBP and HIP1 in multiple system atrophy: New α-synuclein partners in glial cytoplasmic inclusions implicated in the disease pathogenesis.
miR-1272 Exerts Tumor-Suppressive Functions in Prostate Cancer via HIP1 Suppression.
Title: miR-1272 Exerts Tumor-Suppressive Functions in Prostate Cancer via HIP1 Suppression.
White matter DNA methylation profiling reveals deregulation of HIP1, LMAN2, MOBP, and other loci in multiple system atrophy.
Title: White matter DNA methylation profiling reveals deregulation of HIP1, LMAN2, MOBP, and other loci in multiple system atrophy.
HIP1 is a new arthritis severity gene and a potential novel prognostic biomarker and target for therapy in rheumatoid arthritis.
Title: Huntingtin-interacting protein 1 (HIP1) regulates arthritis severity and synovial fibroblast invasiveness by altering PDGFR and Rac1 signalling.
Gdpd3 compensates for Hip1 loss.
Title: Deficiency of the Endocytic Protein Hip1 Leads to Decreased Gdpd3 Expression, Low Phosphocholine, and Kypholordosis.
HIP1 gene expression might serve as a reliable predictor for overall survival in acute myeloid leukemia patients.
Title: Prognostic significance of huntingtin interacting protein 1 expression on patients with acute myeloid leukemia.
After HIP1 expression was blocked by siRNAs, EGFR endocytosis was accelerated and this effect was dependent on the EGF concentration. This endocytosis was colocalized with clathrin expression. These findings indicate that the inhibition of HIP1 can accelerate the endocytosis and degradation of EGFR
Title: Knockdown of HIP1 expression promotes ligand‑induced endocytosis of EGFR in HeLa cells.
Data suggest that GLP1R signaling in pancreatic beta-cells leading to insulin secretion involves interactions of GLP1R with HIP1, SNX1, and SNX27; HIP1 appears to regulate coupling of cell surface GLP1R activation with endocytosis; SNX1 and SNX27 appear to control balance between GLP1R plasma membrane recycling and lysosomal degradation.
Title: A Targeted RNAi Screen Identifies Endocytic Trafficking Factors That Control GLP-1 Receptor Signaling in Pancreatic β-Cells.
HIP1 deletion is not involved in Williams-Beuren syndrome.
Title: Epilepsy is a possible feature in Williams-Beuren syndrome patients harboring typical deletions of the 7q11.23 critical region.
Huntingtin-interacting protein-1 (HIP1) is known to play a role in tumorigenesis. metastasis. Read More: http://www.atsjournals.org/doi/full/10.1164/rccm.201412-2226OC#.V8DF69LrtNs
Title: Huntingtin-Interacting Protein-1 Is an Early-Stage Prognostic Biomarker of Lung Adenocarcinoma and Suppresses Metastasis via Akt-mediated Epithelial-Mesenchymal Transition.

Submit: New GeneRIF Correction See all GeneRIFs (35)

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
A quantitative-trait genome-wide association study of alcoholism risk in the community: findings and implications. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study in a Chinese Han population identifies nine new susceptibility loci for systemic lupus erythematosus. EBI GWAS Catalog EBI GWAS CatalogPubMed
Meta-analysis of genome-wide association studies in multiethnic Asians identifies two loci for age-related nuclear cataract. 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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Protein interactions

Protein	Gene	Interaction	Pubs
Nef	nef	Genome-wide shRNA screening identifies HIP1, which is required for HIV-1 Nef-induced downregulation of CD4 in HeLa CD4+ 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

SHGC-83394 (e-PCR)
- UniSTS:101900

GDB:434012 (e-PCR)
- UniSTS:157204

D7S3303 (e-PCR)
- UniSTS:254232

L17705 (e-PCR)
- UniSTS:66091

D8S2279 (e-PCR)
- UniSTS:473907

D7S2490 (e-PCR)
- UniSTS:15683

HSC0XA062 (e-PCR)
- UniSTS:42319

G38154 (e-PCR)
- UniSTS:53341

D10S16 (e-PCR)
- UniSTS:155756

GDB:4585037 (e-PCR)
- UniSTS:62321

D7S2159E (e-PCR)
- UniSTS:42122

D11S3114 (e-PCR)
- UniSTS:152207

GDB:4585029 (e-PCR)
- UniSTS:411

D7S1456 (e-PCR)
- UniSTS:79525

RH12365 (e-PCR)
- UniSTS:36263

D7S715 (e-PCR)
- UniSTS:9397

HIP1 (e-PCR)
- UniSTS:504762

D7S659 (e-PCR), detects polymorphism
- UniSTS:18630

GDB:4585453 (e-PCR)
- UniSTS:61651

RH93047 (e-PCR)
- UniSTS:89819

D7S2490 (e-PCR)
- UniSTS:74486

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables AP-2 adaptor complex binding	IPI Inferred from Physical Interaction more info	PubMed
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 adaptor activity	IC Inferred by Curator more info	PubMed
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 clathrin light chain binding	IPI Inferred from Physical Interaction more info	PubMed
enables epidermal growth factor receptor binding	TAS Traceable Author Statement more info	PubMed
enables glutamate receptor binding	TAS Traceable Author Statement more info	PubMed
enables phosphatidylinositol 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-3-phosphate binding	IDA Inferred from Direct Assay more info	PubMed
NOT 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	IPI Inferred from Physical Interaction more info	PubMed
enables protein homodimerization activity	IPI Inferred from Physical Interaction more info	PubMed
enables structural constituent of cytoskeleton	TAS Traceable Author Statement 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
acts_upstream_of_or_within activation of cysteine-type endopeptidase activity involved in apoptotic process	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within apoptotic process	IDA Inferred from Direct Assay more info	PubMed
involved_in apoptotic signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in clathrin coat assembly	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within clathrin coat assembly	IDA Inferred from Direct Assay more info	PubMed
involved_in clathrin coat assembly	IDA Inferred from Direct Assay more info	PubMed
involved_in endocytosis	IBA Inferred from Biological aspect of Ancestor more info
involved_in neurotransmitter receptor transport	TAS Traceable Author Statement more info	PubMed
involved_in positive regulation of epidermal growth factor receptor signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IC Inferred by Curator 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 receptor-mediated endocytosis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in presynaptic modulation of chemical synaptic transmission	IEA Inferred from Electronic Annotation more info
involved_in protein stabilization	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within regulation of apoptotic process	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of endocytosis	NAS Non-traceable Author Statement more info	PubMed
involved_in regulation of postsynaptic neurotransmitter receptor internalization	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in Golgi apparatus	IDA Inferred from Direct Assay more info	PubMed
located_in Schaffer collateral - CA1 synapse	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 cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytoskeleton	TAS Traceable Author Statement more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
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 membrane	TAS Traceable Author Statement more info	PubMed
located_in nucleus	TAS Traceable Author Statement more info	PubMed
located_in postsynapse	TAS Traceable Author Statement more info	PubMed
located_in postsynaptic membrane	IEA Inferred from Electronic Annotation more info
is_active_in presynapse	IBA Inferred from Biological aspect of Ancestor more info
located_in presynapse	IDA Inferred from Direct Assay more info	PubMed
located_in presynaptic membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: huntingtin-interacting protein 1

Names: huntingtin-interacting protein I

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.

Genomic

NG_023251.3 RefSeqGene

Range

5021..210664

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001243198.3 → NP_001230127.1 huntingtin-interacting protein 1 isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks two alternate in-frame exons, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.

Source sequence(s)

AC211429, AK296390, AK304738, BQ446538, Y09420

Consensus CDS

CCDS59060.1

UniProtKB/Swiss-Prot

O00291

UniProtKB/TrEMBL

B4DK46

Related

ENSP00000410300.2, ENST00000434438.6

Conserved Domains (5) summary

smart00307
Location:788 → 961

ILWEQ; I/LWEQ domain

pfam07651
Location:37 → 308

ANTH; ANTH domain

pfam15619
Location:433 → 605

Lebercilin; Ciliary protein causing Leber congenital amaurosis disease

pfam16515
Location:482 → 580

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

cl23720
Location:390 → 493

RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)
NM_001382444.1 → NP_001369373.1 huntingtin-interacting protein 1 isoform 3

Status: REVIEWED

Source sequence(s)

AC004491, AC211429

Conserved Domains (4) summary

smart00307
Location:780 → 978

ILWEQ; I/LWEQ domain

COG1196
Location:370 → 610

Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

pfam07651
Location:7 → 272

ANTH; ANTH domain

pfam16515
Location:454 → 546

HIP1_clath_bdg; Clathrin-binding domain of Huntingtin-interacting protein 1
NM_001382445.1 → NP_001369374.1 huntingtin-interacting protein 1 isoform 4

Status: REVIEWED

Source sequence(s)

AC004491, AC211429, KF437291

Consensus CDS

CCDS94128.1

Related

ENSP00000484528.1, ENST00000616821.4

Conserved Domains (4) summary

smart00307
Location:785 → 983

ILWEQ; I/LWEQ domain

COG1196
Location:375 → 615

Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

pfam07651
Location:12 → 277

ANTH; ANTH domain

pfam16515
Location:459 → 551

HIP1_clath_bdg; Clathrin-binding domain of Huntingtin-interacting protein 1
NM_005338.7 → NP_005329.3 huntingtin-interacting protein 1 isoform 1

See identical proteins and their annotated locations for NP_005329.3

Status: REVIEWED

Description

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

Source sequence(s)

AC211429, AF365404, AK296390, BC110545, BQ446538

Consensus CDS

CCDS34669.1

UniProtKB/Swiss-Prot

B4E3I7, E7ES17, O00291, O00328, Q2TB58, Q8TDL4, V5LU97

Related

ENSP00000336747.6, ENST00000336926.11

Conserved Domains (4) summary

smart00307
Location:814 → 1012

ILWEQ; I/LWEQ domain

COG1196
Location:404 → 644

Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

pfam07651
Location:39 → 306

ANTH; ANTH domain

pfam16515
Location:488 → 580

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

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000007.14 Reference GRCh38.p14 Primary Assembly

Range

75533298..75738941 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011516116.3 → XP_011514418.1 huntingtin-interacting protein 1 isoform X1

See identical proteins and their annotated locations for XP_011514418.1

UniProtKB/Swiss-Prot

B4E3I7, E7ES17, O00291, O00328, Q2TB58, Q8TDL4, V5LU97

Conserved Domains (4) summary

smart00307
Location:814 → 1012

ILWEQ; I/LWEQ domain

COG1196
Location:404 → 644

Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

pfam07651
Location:39 → 306

ANTH; ANTH domain

pfam16515
Location:488 → 580

HIP1_clath_bdg; Clathrin-binding domain of Huntingtin-interacting protein 1
XM_047420295.1 → XP_047276251.1 huntingtin-interacting protein 1 isoform X4
XM_017012099.2 → XP_016867588.1 huntingtin-interacting protein 1 isoform X2
XM_047420294.1 → XP_047276250.1 huntingtin-interacting protein 1 isoform X3

Alternate T2T-CHM13v2.0

Genomic

NC_060931.1 Alternate T2T-CHM13v2.0

Range

76820630..77026024 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054358039.1 → XP_054214014.1 huntingtin-interacting protein 1 isoform X1

UniProtKB/Swiss-Prot

B4E3I7, E7ES17, O00291, O00328, Q2TB58, Q8TDL4, V5LU97
XM_054358042.1 → XP_054214017.1 huntingtin-interacting protein 1 isoform X4
XM_054358040.1 → XP_054214015.1 huntingtin-interacting protein 1 isoform X2
XM_054358041.1 → XP_054214016.1 huntingtin-interacting protein 1 isoform X3