U.S. flag

An official website of the United States government

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

Gene ID: 3092, updated on 4-Jan-2025

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
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (75533298..75738941, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (76820630..77026024, complement)
RS_2024_09 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 ATAC-STARR-seq lymphoblastoid silent region 18297 Neighboring gene Sharpr-MPRA regulatory region 5953 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:75160518-75161214 Neighboring gene PMS1 homolog 2, mismatch repair system component pseudogene 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26178 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:75224249-75225196 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26179 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:75232242-75233192 Neighboring gene MPRA-validated peak6604 silencer Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:75240777-75241350 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:75246639-75247140 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:75252505-75253458 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:75253459-75254412 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:75260462-75260962 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18298 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:75268875-75269629 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:75269630-75270383 Neighboring gene Sharpr-MPRA regulatory region 13243 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26180 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:75359065-75359566 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18299 Neighboring gene Sharpr-MPRA regulatory region 12151 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26181 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr7:75407745-75408312 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr7:75408313-75408880 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:75409977-75410145 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr7:75416862-75417721 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr7:75417722-75418580 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:75429150-75429650 Neighboring gene C-C motif chemokine ligand 26 Neighboring gene C-C motif chemokine ligand 24

Genomic regions, transcripts, and products

Expression

  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 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

General gene information

Clone Names

  • MGC126506

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables AP-2 adaptor complex binding PubMed 
enables actin filament binding  
enables actin filament binding PubMed 
enables clathrin adaptor activity  
enables clathrin adaptor activity PubMed 
enables clathrin binding PubMed 
enables clathrin light chain binding  
enables clathrin light chain binding PubMed 
enables epidermal growth factor receptor binding PubMed 
enables glutamate receptor binding PubMed 
enables phosphatidylinositol binding PubMed 
enables phosphatidylinositol-3,4-bisphosphate binding  
enables phosphatidylinositol-3,4-bisphosphate binding PubMed 
enables phosphatidylinositol-3,5-bisphosphate binding  
enables phosphatidylinositol-3,5-bisphosphate binding PubMed 
enables phosphatidylinositol-3-phosphate binding PubMed 
NOT enables phosphatidylinositol-4,5-bisphosphate binding PubMed 
enables protein binding PubMed 
enables protein heterodimerization activity PubMed 
enables protein homodimerization activity PubMed 
enables structural constituent of cytoskeleton PubMed 
Process Evidence Code Pubs
involved_in actin filament organization  
acts_upstream_of_or_within apoptotic process PubMed 
involved_in apoptotic signaling pathway PubMed 
involved_in cell differentiation  
involved_in clathrin coat assembly  
acts_upstream_of_or_within clathrin coat assembly PubMed 
involved_in clathrin coat assembly PubMed 
involved_in endocytosis  
involved_in neurotransmitter receptor transport PubMed 
acts_upstream_of_or_within positive regulation of cysteine-type endopeptidase activity PubMed 
involved_in positive regulation of epidermal growth factor receptor signaling pathway  
involved_in positive regulation of epidermal growth factor receptor signaling pathway PubMed 
involved_in positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction PubMed 
involved_in positive regulation of platelet-derived growth factor receptor-beta signaling pathway  
involved_in positive regulation of platelet-derived growth factor receptor-beta signaling pathway PubMed 
involved_in positive regulation of receptor-mediated endocytosis PubMed 
involved_in presynaptic modulation of chemical synaptic transmission  
involved_in protein stabilization PubMed 
involved_in regulation of apoptotic process  
acts_upstream_of_or_within regulation of apoptotic process PubMed 
involved_in regulation of endocytosis PubMed 
involved_in regulation of postsynaptic neurotransmitter receptor internalization  
Component Evidence Code Pubs
located_in Golgi apparatus PubMed 
located_in Schaffer collateral - CA1 synapse  
is_active_in clathrin-coated vesicle  
located_in clathrin-coated vesicle PubMed 
located_in clathrin-coated vesicle membrane  
is_active_in cortical actin cytoskeleton  
located_in cytoplasm PubMed 
located_in cytoskeleton PubMed 
located_in cytosol  
located_in glutamatergic synapse  
located_in intracellular membrane-bounded organelle  
located_in membrane PubMed 
located_in nucleus PubMed 
located_in postsynapse PubMed 
located_in postsynaptic membrane  
is_active_in presynapse  
located_in presynapse PubMed 
located_in presynaptic membrane  

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
    B4E3I7, E7ES17, O00291, O00328, Q2TB58, Q8TDL4, V5LU97
    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: GCF_000001405.40-RS_2024_08

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
    B4E3I7, E7ES17, O00291, O00328, Q2TB58, Q8TDL4, 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)

mRNA and Protein(s)

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

    UniProtKB/Swiss-Prot
    B4E3I7, E7ES17, O00291, O00328, Q2TB58, Q8TDL4, V5LU97
  2. XM_054358042.1XP_054214017.1  huntingtin-interacting protein 1 isoform X4

  3. XM_054358040.1XP_054214015.1  huntingtin-interacting protein 1 isoform X2

  4. XM_054358041.1XP_054214016.1  huntingtin-interacting protein 1 isoform X3

External link. Please review our privacy policy.