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

Gene ID: 3092, updated on 4-Dec-2022

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
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

See HIP1 in Genome Data Viewer
Location:
7q11.23
Exon count:
34
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (75533298..75738941, complement)
110 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_000007.14Genomic Context describing neighboring genes Neighboring gene speedy/RINGO cell cycle regulator family member E5 Neighboring gene Sharpr-MPRA regulatory region 5953 Neighboring gene PMS1 homolog 2, mismatch repair system component pseudogene 3 Neighboring gene Sharpr-MPRA regulatory region 13243 Neighboring gene Sharpr-MPRA regulatory region 12151 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 Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

EBI GWAS Catalog

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

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
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
PubMed 
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
PubMed 
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
PubMed 
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
PubMed 
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
PubMed 
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 IDA
Inferred from Direct Assay
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
PubMed 
involved_in activation of cysteine-type endopeptidase activity involved in apoptotic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 
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 clathrin-dependent endocytosis IEA
Inferred from Electronic Annotation
more info
 
involved_in endocytosis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 platelet-derived growth factor receptor-beta signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of protein kinase B signaling IC
Inferred by Curator
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
PubMed 
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
 
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 extrinsic component of cytoplasmic side of plasma membrane IEA
Inferred from Electronic Annotation
more info
 
is_active_in extrinsic component of postsynaptic membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in extrinsic component of presynaptic membrane IEA
Inferred from Electronic Annotation
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 
is_active_in presynapse IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in 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)

NEW Try the new Transcript table

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_023251.3 RefSeqGene

    Range
    5021..210664
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001243198.3NP_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: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_001382444.1NP_001369373.1  huntingtin-interacting protein 1 isoform 3

    Status: REVIEWED

    Source sequence(s)
    AC004491, AC211429
    Conserved Domains (4) summary
    smart00307
    Location:780978
    ILWEQ; I/LWEQ domain
    COG1196
    Location:370610
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    pfam07651
    Location:7272
    ANTH; ANTH domain
    pfam16515
    Location:454546
    HIP1_clath_bdg; Clathrin-binding domain of Huntingtin-interacting protein 1
  3. NM_001382445.1NP_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:785983
    ILWEQ; I/LWEQ domain
    COG1196
    Location:375615
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    pfam07651
    Location:12277
    ANTH; ANTH domain
    pfam16515
    Location:459551
    HIP1_clath_bdg; Clathrin-binding domain of Huntingtin-interacting protein 1
  4. NM_005338.7NP_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
    O00291, V5LU97
    UniProtKB/TrEMBL
    B4DK46
    Related
    ENSP00000336747.6, ENST00000336926.11
    Conserved Domains (4) summary
    smart00307
    Location:8141012
    ILWEQ; I/LWEQ domain
    COG1196
    Location:404644
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    pfam07651
    Location:39306
    ANTH; ANTH domain
    pfam16515
    Location:488580
    HIP1_clath_bdg; Clathrin-binding domain of Huntingtin-interacting protein 1

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

    Range
    75533298..75738941 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    See identical proteins and their annotated locations for XP_011514418.1

    UniProtKB/Swiss-Prot
    O00291, V5LU97
    Conserved Domains (4) summary
    smart00307
    Location:8141012
    ILWEQ; I/LWEQ domain
    COG1196
    Location:404644
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    pfam07651
    Location:39306
    ANTH; ANTH domain
    pfam16515
    Location:488580
    HIP1_clath_bdg; Clathrin-binding domain of Huntingtin-interacting protein 1
  2. XM_047420295.1XP_047276251.1  huntingtin-interacting protein 1 isoform X4

  3. XM_017012099.2XP_016867588.1  huntingtin-interacting protein 1 isoform X2

  4. XM_047420294.1XP_047276250.1  huntingtin-interacting protein 1 isoform X3

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    76820630..77026024 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)