Format

Send to:

Choose Destination

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

Gene ID: 9026, updated on 6-Jan-2019

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
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
Expression
Ubiquitous expression in brain (RPKM 19.4), kidney (RPKM 16.5) and 25 other tissues See more
Orthologs

Genomic context

See HIP1R in Genome Data Viewer
Location:
12q24.31
Exon count:
34
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 12 NC_000012.12 (122834498..122862961)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (123319045..123347508)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene density regulated re-initiation and release factor Neighboring gene coiled-coil domain containing 62 Neighboring gene VPS37B, ESCRT-I subunit Neighboring gene ATP binding cassette subfamily B member 9 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 FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Imputation of sequence variants for identification of genetic risks for Parkinson's disease: a meta-analysis of genome-wide association studies.
NHGRI GWA 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 BioSystems

  • Clathrin derived vesicle budding, organism-specific biosystem (from REACTOME)
    Clathrin derived vesicle budding, organism-specific biosystemThere at least two classes of clathrin coated vesicles in cells, one predominantly Golgi-associated, involved in budding from the trans-Golgi network and the other at the plasma membrane. Here the cl...
  • 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...
  • Golgi Associated Vesicle Biogenesis, organism-specific biosystem (from REACTOME)
    Golgi Associated Vesicle Biogenesis, organism-specific biosystemProteins that have been synthesized, processed and sorted eventually reach the final steps of the secretory pathway. This pathway is responsible not only for proteins that are secreted from the cell ...
  • 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...
  • trans-Golgi Network Vesicle Budding, organism-specific biosystem (from REACTOME)
    trans-Golgi Network Vesicle Budding, organism-specific biosystemAfter passing through the Golgi complex, secretory cargo is packaged into post-Golgi transport intermediates (post-Golgi), which translocate plus-end directed along microtubules to the plasma membran...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ14000, FLJ27022, KIAA0655, MGC47513

Gene Ontology Provided by GOA

Function Evidence Code Pubs
SH3 domain binding IEA
Inferred from Electronic Annotation
more info
 
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 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 
identical protein binding IPI
Inferred from Physical Interaction
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-3,4,5-trisphosphate 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-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 IEA
Inferred from Electronic Annotation
more info
 
protein homodimerization activity IDA
Inferred from Direct Assay
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 IEA
Inferred from Electronic Annotation
more info
 
clathrin coat assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
digestive system development IEA
Inferred from Electronic Annotation
more info
 
membrane organization TAS
Traceable Author Statement
more info
 
negative regulation of Arp2/3 complex-mediated actin nucleation IEA
Inferred from Electronic Annotation
more info
 
negative regulation of actin filament polymerization IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of apoptotic process IEA
Inferred from Electronic Annotation
more info
 
positive regulation of apoptotic process IGI
Inferred from Genetic Interaction
more info
PubMed 
positive regulation of clathrin coat assembly IEA
Inferred from Electronic Annotation
more info
 
positive regulation of epidermal growth factor receptor signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway IGI
Inferred from Genetic Interaction
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 binding IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of receptor-mediated endocytosis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein stabilization IDA
Inferred from Direct Assay
more info
PubMed 
receptor-mediated endocytosis IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of actin cytoskeleton organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of clathrin-dependent endocytosis NAS
Non-traceable Author Statement
more info
PubMed 
regulation of endocytosis IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of endocytosis NAS
Non-traceable Author Statement
more info
PubMed 
regulation of gastric acid secretion 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 
actin cortical patch IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
apical plasma membrane IEA
Inferred from Electronic Annotation
more info
 
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 
cytosol IDA
Inferred from Direct Assay
more info
 
cytosol TAS
Traceable Author Statement
more info
 
dendrite cytoplasm ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
dendritic spine ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
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
 
mitochondrion IEA
Inferred from Electronic Annotation
more info
 
neuronal cell body ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
perinuclear region of cytoplasm IEA
Inferred from Electronic Annotation
more info
 
postsynaptic density ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
ruffle membrane IDA
Inferred from Direct Assay
more info
PubMed 
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)

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_001303097.1NP_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_001303099.1NP_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, HY123489
    UniProtKB/TrEMBL
    B3KQW8
    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
    O75146
    Related
    ENSP00000253083.4, ENST00000253083.8
    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: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p12 Primary Assembly

    Range
    122834498..122862961
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011538963.1XP_011537265.1  huntingtin-interacting protein 1-related protein isoform X1

    Conserved Domains (5) summary
    smart00307
    Location:8021000
    ILWEQ; I/LWEQ domain
    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)
  2. XM_024449270.1XP_024305038.1  huntingtin-interacting protein 1-related protein isoform X2

    Conserved Domains (4) summary
    smart00307
    Location:609807
    ILWEQ; I/LWEQ domain
    pfam16515
    Location:256354
    HIP1_clath_bdg; Clathrin-binding domain of Huntingtin-interacting protein 1
    cl02544
    Location:394
    VHS_ENTH_ANTH; VHS, ENTH and ANTH domain superfamily; composed of proteins containing a VHS, ENTH or ANTH domain. The VHS domain is present in Vps27 (Vacuolar Protein Sorting), Hrs (Hepatocyte growth factor-regulated tyrosine kinase substrate) and STAM (Signal ...
    cl25732
    Location:142437
    SMC_N; RecF/RecN/SMC N terminal domain
Support Center