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

Gene ID: 9026, updated on 26-Nov-2014
Official Symbol
HIP1Rprovided by HGNC
Official Full Name
huntingtin interacting protein 1 relatedprovided by HGNC
Primary source
HGNC:HGNC:18415
See related
Ensembl:ENSG00000130787; HPRD:10412; MIM:605613; Vega:OTTHUMG00000168765
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
See HIP1R in Epigenomics, MapViewer
Location:
12q24
Exon count:
33
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 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 protein Neighboring gene coiled-coil domain containing 62 Neighboring gene vacuolar protein sorting 37 homolog B (S. cerevisiae) Neighboring gene ATP-binding cassette, sub-family B (MDR/TAP), member 9

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

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

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

  • 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...
  • 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...
  • 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...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • FLJ14000, FLJ27022, KIAA0655, MGC47513

Gene Ontology Provided by GOA

Function Evidence Code Pubs
actin binding IEA
Inferred from Electronic Annotation
more info
 
phosphatidylinositol binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
receptor-mediated endocytosis IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
clathrin-coated vesicle IDA
Inferred from Direct Assay
more info
PubMed 
clathrin-coated vesicle membrane IEA
Inferred from Electronic Annotation
more info
 
coated pit IEA
Inferred from Electronic Annotation
more info
 
cytoplasm IDA
Inferred from Direct Assay
more info
 
cytoskeleton IEA
Inferred from Electronic Annotation
more info
 
intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 
perinuclear region of cytoplasm IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
huntingtin-interacting protein 1-related protein
Names
huntingtin-interacting protein 1-related protein
HIP-12
HIP1-related protein
huntingtin interacting protein 12
huntingtin-interacting protein 12

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_003959.1NP_003950.1  huntingtin-interacting protein 1-related protein

    See proteins identical to NP_003950.1

    Status: VALIDATED

    Source sequence(s)
    AB013384, AK024062, AK090537, AW962010, BC011354, BC067085, CF454957
    Consensus CDS
    CCDS31922.1
    UniProtKB/TrEMBL
    B3KN98
    UniProtKB/TrEMBL
    B3KQW8
    UniProtKB/Swiss-Prot
    O75146
    Related
    ENSP00000253083, OTTHUMP00000239377, ENST00000253083, OTTHUMT00000400935
    Conserved Domains (4) summary
    smart00307
    Location:8141012
    ILWEQ; I/LWEQ domain
    COG1842
    Location:383604
    PspA; Phage shock protein A (IM30), suppresses sigma54-dependent transcription [Transcription / Signal transduction mechanisms]
    cd00176
    Location:397573
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
    pfam07651
    Location:28300
    ANTH; ANTH domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000012.12 

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

mRNA and Protein(s)

  1. XM_005253628.1XP_005253685.1  

    Conserved Domains (4) summary
    smart00307
    Location:8071005
    ILWEQ; I/LWEQ domain
    COG1842
    Location:376597
    PspA; Phage shock protein A (IM30), suppresses sigma54-dependent transcription [Transcription / Signal transduction mechanisms]
    cd00176
    Location:390566
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
    pfam07651
    Location:18288
    ANTH; ANTH domain
  2. XM_006719683.1XP_006719746.1  

    See proteins identical to XP_006719746.1

    UniProtKB/TrEMBL
    B3KQW8
    Conserved Domains (4) summary
    COG1842
    Location:371592
    PspA; Phage shock protein A (IM30), suppresses sigma54-dependent transcription [Transcription / Signal transduction mechanisms]
    cd00176
    Location:385561
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
    pfam07651
    Location:18288
    ANTH; ANTH domain
    cl03075
    Location:347404
    GrpE; GrpE is the adenine nucleotide exchange factor of DnaK (Hsp70)-type ATPases. The GrpE dimer binds to the ATPase domain of Hsp70 catalyzing the dissociation of ADP, which enables rebinding of ATP, one step in the Hsp70 reaction cycle in protein folding. ...
  3. XM_005253627.1XP_005253684.1  

    Conserved Domains (4) summary
    smart00307
    Location:8191017
    ILWEQ; I/LWEQ domain
    COG1842
    Location:388609
    PspA; Phage shock protein A (IM30), suppresses sigma54-dependent transcription [Transcription / Signal transduction mechanisms]
    cd00176
    Location:402578
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
    pfam07651
    Location:28300
    ANTH; ANTH domain

Alternate CHM1_1.1

Genomic

  1. NC_018923.2 

    Range
    123288408..123315480
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000144.1 

    Range
    120292995..120307523
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)