Format

Send to:

Choose Destination

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

Gene ID: 3092, updated on 12-Aug-2018

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; Vega:OTTHUMG00000156050
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

Genomic context

See HIP1 in Genome Data Viewer
Location:
7q11.23
Exon count:
35
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 7 NC_000007.14 (75533298..75738976, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (75162619..75368290, complement)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene speedy/RINGO cell cycle regulator family member E5 Neighboring gene PMS1 homolog 2, mismatch repair system component pseudogene 3 Neighboring gene C-C motif chemokine ligand 26 Neighboring gene C-C motif chemokine ligand 24

Genomic regions, transcripts, and products

Expression

  • 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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Malignant tumor of prostate
MedGen: C0376358 OMIM: 176807 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

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

HIV-1 interactions

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

Pathways from BioSystems

  • Clathrin-mediated endocytosis, organism-specific biosystem (from REACTOME)
    Clathrin-mediated endocytosis, organism-specific biosystemClathrin-mediated endocytosis (CME) is one of a number of process that control the uptake of material from the plasma membrane, and leads to the formation of clathrin-coated vesicles (Pearse et al, 1...
  • Coregulation of Androgen receptor activity, organism-specific biosystem (from Pathway Interaction Database)
    Coregulation of Androgen receptor activity, organism-specific biosystem
    Coregulation of Androgen receptor activity
  • Huntington's disease, organism-specific biosystem (from KEGG)
    Huntington's disease, organism-specific biosystemHuntington disease (HD) is an autosomal-dominant neurodegenerative disorder that primarily affects medium spiny striatal neurons (MSN). The symptoms are choreiform, involuntary movements, personality...
  • Huntington's disease, conserved biosystem (from KEGG)
    Huntington's disease, conserved biosystemHuntington disease (HD) is an autosomal-dominant neurodegenerative disorder that primarily affects medium spiny striatal neurons (MSN). The symptoms are choreiform, involuntary movements, personality...
  • Membrane Trafficking, organism-specific biosystem (from REACTOME)
    Membrane Trafficking, organism-specific biosystemThe secretory membrane system allows a cell to regulate delivery of newly synthesized proteins, carbohydrates, and lipids to the cell surface, a necessity for growth and homeostasis. The system is ma...
  • Vesicle-mediated transport, organism-specific biosystem (from REACTOME)
    Vesicle-mediated transport, organism-specific biosystemThe transit of proteins and other cargo through the cell requires a cellular transport process in which transported substances are moved in membrane-bounded vesicles. Transported substances are enclo...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC126506

Gene Ontology Provided by GOA

Function Evidence Code Pubs
AP-2 adaptor complex binding IPI
Inferred from Physical Interaction
more info
PubMed 
actin filament binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
actin filament binding IDA
Inferred from Direct Assay
more info
PubMed 
clathrin adaptor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
clathrin adaptor activity IC
Inferred by Curator
more info
PubMed 
clathrin binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
clathrin binding IDA
Inferred from Direct Assay
more info
PubMed 
clathrin light chain binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
clathrin light chain binding IPI
Inferred from Physical Interaction
more info
PubMed 
epidermal growth factor receptor binding TAS
Traceable Author Statement
more info
PubMed 
glutamate receptor binding TAS
Traceable Author Statement
more info
PubMed 
phosphatidylinositol binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
phosphatidylinositol binding IDA
Inferred from Direct Assay
more info
PubMed 
phosphatidylinositol-3,4-bisphosphate binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
phosphatidylinositol-3,4-bisphosphate binding IDA
Inferred from Direct Assay
more info
PubMed 
phosphatidylinositol-3,5-bisphosphate binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
phosphatidylinositol-3,5-bisphosphate binding IDA
Inferred from Direct Assay
more info
PubMed 
phosphatidylinositol-3-phosphate binding IDA
Inferred from Direct Assay
more info
PubMed 
NOT phosphatidylinositol-4,5-bisphosphate binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein heterodimerization activity IPI
Inferred from Physical Interaction
more info
PubMed 
protein homodimerization activity IDA
Inferred from Direct Assay
more info
PubMed 
structural constituent of cytoskeleton TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
actin filament organization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
activation of cysteine-type endopeptidase activity involved in apoptotic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
activation of cysteine-type endopeptidase activity involved in apoptotic process IDA
Inferred from Direct Assay
more info
PubMed 
apoptotic process IDA
Inferred from Direct Assay
more info
PubMed 
apoptotic signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
cell differentiation IEA
Inferred from Electronic Annotation
more info
 
clathrin coat assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
clathrin coat assembly IDA
Inferred from Direct Assay
more info
PubMed 
clathrin-dependent endocytosis IEA
Inferred from Electronic Annotation
more info
 
cytoskeleton organization IEA
Inferred from Electronic Annotation
more info
 
membrane organization TAS
Traceable Author Statement
more info
 
neurotransmitter receptor transport TAS
Traceable Author Statement
more info
PubMed 
positive regulation of epidermal growth factor receptor signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of platelet-derived growth factor receptor-beta signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of protein kinase B signaling IC
Inferred by Curator
more info
PubMed 
positive regulation of receptor-mediated endocytosis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of receptor-mediated endocytosis IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein stabilization IDA
Inferred from Direct Assay
more info
PubMed 
regulation of apoptotic process IDA
Inferred from Direct Assay
more info
PubMed 
regulation of endocytosis NAS
Non-traceable Author Statement
more info
PubMed 
regulation of transcription, DNA-templated IEA
Inferred from Electronic Annotation
more info
 
transcription, DNA-templated IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
COLOCALIZES_WITH AP-2 adaptor complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
colocalizes_with AP-2 adaptor complex IDA
Inferred from Direct Assay
more info
PubMed 
Golgi apparatus IDA
Inferred from Direct Assay
more info
PubMed 
actin cortical patch IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
COLOCALIZES_WITH clathrin-coated vesicle IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
clathrin-coated vesicle IDA
Inferred from Direct Assay
more info
PubMed 
COLOCALIZES_WITH cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytoskeleton TAS
Traceable Author Statement
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
extrinsic component of cytoplasmic side of plasma membrane IEA
Inferred from Electronic Annotation
more info
 
extrinsic component of postsynaptic membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
extrinsic component of postsynaptic membrane IEA
Inferred from Electronic Annotation
more info
 
extrinsic component of presynaptic membrane IEA
Inferred from Electronic Annotation
more info
 
glutamatergic synapse IEA
Inferred from Electronic Annotation
more info
 
intracellular membrane-bounded organelle IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 
membrane TAS
Traceable Author Statement
more info
PubMed 
nucleus TAS
Traceable Author Statement
more info
PubMed 
postsynapse TAS
Traceable Author Statement
more info
PubMed 
presynapse IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
presynapse IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
huntingtin-interacting protein 1
Names
huntingtin-interacting protein I

NCBI Reference Sequences (RefSeq)

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_023251.2 RefSeqGene

    Range
    4990..210664
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001243198.2NP_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)
    AC004491, AC211429, AK296390, AK304738, BQ446538, Y09420
    Consensus CDS
    CCDS59060.1
    UniProtKB/Swiss-Prot
    O00291
    UniProtKB/TrEMBL
    B4DK46
    Related
    ENSP00000410300.2, OTTHUMP00000209130, ENST00000434438.6, OTTHUMT00000342864
    Conserved Domains (5) summary
    smart00307
    Location:788961
    ILWEQ; I/LWEQ domain
    pfam07651
    Location:37308
    ANTH; ANTH domain
    pfam15619
    Location:433605
    Lebercilin; Ciliary protein causing Leber congenital amaurosis disease
    pfam16515
    Location:482580
    HIP1_clath_bdg; Clathrin-binding domain of Huntingtin-interacting protein 1
    cl23720
    Location:390493
    RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)
  2. NM_005338.6NP_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)
    AC004491, AC211429, AF365404, AK296390, BC110545, BQ446538
    Consensus CDS
    CCDS34669.1
    UniProtKB/Swiss-Prot
    O00291
    UniProtKB/TrEMBL
    B4DK46
    Related
    ENSP00000336747.6, OTTHUMP00000209129, ENST00000336926.10, OTTHUMT00000342863
    Conserved Domains (4) summary
    smart00307
    Location:8141012
    ILWEQ; I/LWEQ domain
    pfam07651
    Location:39308
    ANTH; ANTH domain
    pfam16515
    Location:482580
    HIP1_clath_bdg; Clathrin-binding domain of Huntingtin-interacting protein 1
    cl25732
    Location:369644
    SMC_N; RecF/RecN/SMC N terminal domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p12 Primary Assembly

    Range
    75533298..75738976 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011516116.2XP_011514418.1  huntingtin-interacting protein 1 isoform X1

    See identical proteins and their annotated locations for XP_011514418.1

    UniProtKB/Swiss-Prot
    O00291
    Conserved Domains (4) summary
    smart00307
    Location:8141012
    ILWEQ; I/LWEQ domain
    pfam07651
    Location:39308
    ANTH; ANTH domain
    pfam16515
    Location:482580
    HIP1_clath_bdg; Clathrin-binding domain of Huntingtin-interacting protein 1
    cl25732
    Location:369644
    SMC_N; RecF/RecN/SMC N terminal domain
  2. XM_005250305.2XP_005250362.1  huntingtin-interacting protein 1 isoform X4

    Conserved Domains (5) summary
    smart00307
    Location:780978
    ILWEQ; I/LWEQ domain
    pfam07651
    Location:7274
    ANTH; ANTH domain
    pfam15619
    Location:399571
    Lebercilin; Ciliary protein causing Leber congenital amaurosis disease
    pfam16515
    Location:448546
    HIP1_clath_bdg; Clathrin-binding domain of Huntingtin-interacting protein 1
    cl23720
    Location:356459
    RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)
  3. XM_017012099.1XP_016867588.1  huntingtin-interacting protein 1 isoform X2

  4. XM_005250304.2XP_005250361.1  huntingtin-interacting protein 1 isoform X3

    See identical proteins and their annotated locations for XP_005250361.1

    UniProtKB/Swiss-Prot
    O00291
    Related
    ENSP00000484528.1, ENST00000616821.4
    Conserved Domains (5) summary
    smart00307
    Location:785983
    ILWEQ; I/LWEQ domain
    pfam07651
    Location:12279
    ANTH; ANTH domain
    pfam15619
    Location:404576
    Lebercilin; Ciliary protein causing Leber congenital amaurosis disease
    pfam16515
    Location:453551
    HIP1_clath_bdg; Clathrin-binding domain of Huntingtin-interacting protein 1
    cl23720
    Location:361464
    RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)
Support Center