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

Gene ID: 9026, updated on 7-Jan-2024

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
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Try the new Transcript table

Genomic context

See HIP1R in Genome Data Viewer
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_000012.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5020 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7236 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5021 Neighboring gene Sharpr-MPRA regulatory region 13845 Neighboring gene density regulated re-initiation and release factor Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:123274450-123275003 Neighboring gene coiled-coil domain containing 62 Neighboring gene MPRA-validated peak2023 silencer Neighboring gene ReSE screen-validated silencer GRCh37_chr12:123296784-123296959 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7238 Neighboring gene MPRA-validated peak2024 silencer Neighboring gene uncharacterized LOC124903040 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7239 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5022 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5023 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:123329929-123330760 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:123338415-123338915 Neighboring gene Sharpr-MPRA regulatory region 11411 Neighboring gene uncharacterized LOC124903039 Neighboring gene hESC enhancers GRCh37_chr12:123356243-123356750 and GRCh37_chr12:123356751-123357257 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:123357767-123358273 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7241 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:123361289-123361497 Neighboring gene VPS37B subunit of ESCRT-I Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7242 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7243 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:123372974-123373690 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr12:123375921-123376422 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr12:123376423-123376922 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7244 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5024 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr12:123394282-123394782 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr12:123394783-123395283 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:123407378-123407878 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:123407879-123408379 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:123414465-123414965 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:123424202-123425057 Neighboring gene ATP binding cassette subfamily B member 9 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:123429718-123430527 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:123431158-123431906 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:123449651-123450458 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:123450459-123451264 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7247 Neighboring gene 2-oxoglutarate and iron dependent oxygenase domain containing 2

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

HIV-1 interactions

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • FLJ14000, FLJ27022, KIAA0655, MGC47513

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
 
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

Preferred Names
huntingtin-interacting protein 1-related protein
Names
HIP-12
HIP1-related protein
huntingtin interacting protein 12

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.

mRNA and Protein(s)

  1. NM_001303097.2NP_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:383604
    PspA; Phage shock protein A [Transcription, Signal transduction mechanisms]
    pfam07651
    Location:28300
    ANTH; ANTH domain
    pfam16515
    Location:461559
    HIP1_clath_bdg; Clathrin-binding domain of Huntingtin-interacting protein 1
    cl23720
    Location:349467
    RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)
  2. NM_001303099.2NP_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:371592
    PspA; Phage shock protein A [Transcription, Signal transduction mechanisms]
    pfam07651
    Location:17288
    ANTH; ANTH domain
    pfam16515
    Location:449547
    HIP1_clath_bdg; Clathrin-binding domain of Huntingtin-interacting protein 1
    cl23720
    Location:337455
    RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)
  3. NM_003959.3NP_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:8141012
    ILWEQ; I/LWEQ domain
    COG1842
    Location:383604
    PspA; Phage shock protein A [Transcription, Signal transduction mechanisms]
    pfam07651
    Location:28300
    ANTH; ANTH domain
    pfam16515
    Location:461559
    HIP1_clath_bdg; Clathrin-binding domain of Huntingtin-interacting protein 1
    cl23720
    Location:349467
    RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)

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

  1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

    Range
    122834748..122862961
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    122830187..122858212
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)