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Hap1 huntingtin-associated protein 1 [ Mus musculus (house mouse) ]

Gene ID: 15114, updated on 10-Oct-2019

Summary

Official Symbol
Hap1provided by MGI
Official Full Name
huntingtin-associated protein 1provided by MGI
Primary source
MGI:MGI:1261831
See related
Ensembl:ENSMUSG00000006930
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
HAP-1
Summary
The protein encoded by this gene was first identified as a neuronal protein that binds the HD protein huntingtin. The protein also interacts with kinesin light chain, 14-3-3 proteins, and Abelson helper integration site 1 protein. The protein is involved in intracellular trafficking of vesicles and organelles, and lack of the protein results in neuronal death resembling the hypothalamic degeneration that occurs in Huntington's disease. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2009]
Expression
Biased expression in CNS E18 (RPKM 65.1), whole brain E14.5 (RPKM 47.4) and 11 other tissues See more
Orthologs

Genomic context

See Hap1 in Genome Data Viewer
Location:
11 63.47 cM; 11 D
Exon count:
14
Annotation release Status Assembly Chr Location
108 current GRCm38.p6 (GCF_000001635.26) 11 NC_000077.6 (100347327..100356982, complement)
Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 11 NC_000077.5 (100208641..100217455, complement)

Chromosome 11 - NC_000077.6Genomic Context describing neighboring genes Neighboring gene eukaryotic translation initiation factor 1 Neighboring gene gastrin Neighboring gene ATP synthase, H+ transporting, mitochondrial F0 complex, subunit c, isoform 1 pseudogene Neighboring gene junction plakoglobin

Genomic regions, transcripts, and products

Expression

  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC31449

Gene Ontology Provided by MGI

Function Evidence Code Pubs
brain-derived neurotrophic factor binding ISO
Inferred from Sequence Orthology
more info
 
identical protein binding ISO
Inferred from Sequence Orthology
more info
 
ion channel binding ISO
Inferred from Sequence Orthology
more info
 
myosin binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein domain specific binding ISO
Inferred from Sequence Orthology
more info
 
signaling receptor binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
signaling receptor binding ISO
Inferred from Sequence Orthology
more info
 
Process Evidence Code Pubs
anterograde axonal transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
anterograde axonal transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
anterograde axonal transport ISO
Inferred from Sequence Orthology
more info
 
anterograde axonal transport of mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
autophagy IEA
Inferred from Electronic Annotation
more info
 
cell projection organization IEA
Inferred from Electronic Annotation
more info
 
cerebellum development IMP
Inferred from Mutant Phenotype
more info
PubMed 
exocytosis IEA
Inferred from Electronic Annotation
more info
 
hypothalamus cell differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
mitochondrion distribution IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of amyloid-beta formation ISO
Inferred from Sequence Orthology
more info
 
neurogenesis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
neurogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
neuron projection development ISO
Inferred from Sequence Orthology
more info
 
neurotrophin TRK receptor signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
neurotrophin TRK receptor signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of epidermal growth factor receptor signaling pathway ISO
Inferred from Sequence Orthology
more info
 
positive regulation of inclusion body assembly ISO
Inferred from Sequence Orthology
more info
 
positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity ISO
Inferred from Sequence Orthology
more info
 
positive regulation of neurogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of neuron projection development ISO
Inferred from Sequence Orthology
more info
 
positive regulation of neurotrophin production ISO
Inferred from Sequence Orthology
more info
 
positive regulation of non-motile cilium assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of synaptic transmission, GABAergic ISO
Inferred from Sequence Orthology
more info
 
protein localization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein localization ISO
Inferred from Sequence Orthology
more info
 
protein targeting IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein transport IEA
Inferred from Electronic Annotation
more info
 
regulation of exocytosis IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of organelle transport along microtubule IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of postsynaptic neurotransmitter receptor internalization ISO
Inferred from Sequence Orthology
more info
 
retrograde axonal transport ISO
Inferred from Sequence Orthology
more info
 
vesicle transport along microtubule IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
vesicle transport along microtubule IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
GABA-ergic synapse ISO
Inferred from Sequence Orthology
more info
 
autophagosome IDA
Inferred from Direct Assay
more info
PubMed 
axon terminus ISO
Inferred from Sequence Orthology
more info
 
cell junction IEA
Inferred from Electronic Annotation
more info
 
cell projection IEA
Inferred from Electronic Annotation
more info
 
centriole IDA
Inferred from Direct Assay
more info
PubMed 
centrosome IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoplasm ISO
Inferred from Sequence Orthology
more info
 
cytoplasmic vesicle IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoplasmic vesicle IDA
Inferred from Direct Assay
more info
PubMed 
cytoskeleton IEA
Inferred from Electronic Annotation
more info
 
cytosol ISO
Inferred from Sequence Orthology
more info
 
dendrite IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
dendrite ISO
Inferred from Sequence Orthology
more info
 
endoplasmic reticulum IEA
Inferred from Electronic Annotation
more info
 
growth cone ISO
Inferred from Sequence Orthology
more info
 
inclusion body ISO
Inferred from Sequence Orthology
more info
 
lysosome IEA
Inferred from Electronic Annotation
more info
 
mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
neuron projection ISO
Inferred from Sequence Orthology
more info
 
nucleolus ISO
Inferred from Sequence Orthology
more info
 
nucleus IEA
Inferred from Electronic Annotation
more info
 
perinuclear region of cytoplasm ISO
Inferred from Sequence Orthology
more info
 
postsynaptic cytosol ISO
Inferred from Sequence Orthology
more info
 
presynaptic cytosol ISO
Inferred from Sequence Orthology
more info
 
synapse IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
huntingtin-associated protein 1

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_001359052.1NP_001345981.1  huntingtin-associated protein 1 isoform C

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses an alternate in-frame splice site in the 3' coding region, compared to variant 1. It encodes isoform C, which is shorter than isoform B.
    Source sequence(s)
    BC053043
    Conserved Domains (1) summary
    pfam04849
    Location:82402
    HAP1_N; HAP1 N-terminal conserved region
  2. NM_010404.3NP_034534.1  huntingtin-associated protein 1 isoform A

    See identical proteins and their annotated locations for NP_034534.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) differs in the 3' CDS and 3' UTR compared to variant 2. It encodes isoform A, which has a shorter and distinct C-terminus, compared to isoform B.
    Source sequence(s)
    AK138436, AL590968, BC053043, BY288360
    Consensus CDS
    CCDS25419.1
    UniProtKB/Swiss-Prot
    O35668
    Related
    ENSMUSP00000099413.4, ENSMUST00000103124.10
    Conserved Domains (2) summary
    pfam04849
    Location:82402
    HAP1_N; HAP1 N-terminal conserved region
    cl09176
    Location:266352
    FlgN; FlgN protein
  3. NM_177981.2NP_817090.1  huntingtin-associated protein 1 isoform B

    See identical proteins and their annotated locations for NP_817090.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) encodes the longest isoform (B).
    Source sequence(s)
    BC053043, BY288360
    Consensus CDS
    CCDS56806.1
    UniProtKB/Swiss-Prot
    O35668
    Related
    ENSMUSP00000133356.1, ENSMUST00000138603.8
    Conserved Domains (2) summary
    pfam04849
    Location:82402
    HAP1_N; HAP1 N-terminal conserved region
    cl09176
    Location:266352
    FlgN; FlgN protein

RefSeqs of Annotated Genomes: Mus musculus Annotation Release 108 details...Open this link in a new tab

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

Reference GRCm38.p6 C57BL/6J

Genomic

  1. NC_000077.6 Reference GRCm38.p6 C57BL/6J

    Range
    100347327..100356982 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_030245581.1XP_030101441.1  huntingtin-associated protein 1 isoform X2

  2. XM_030245580.1XP_030101440.1  huntingtin-associated protein 1 isoform X1

  3. XM_011248745.3XP_011247047.1  huntingtin-associated protein 1 isoform X3

    Conserved Domains (2) summary
    pfam04849
    Location:82403
    HAP1_N; HAP1 N-terminal conserved region
    cl09176
    Location:266352
    FlgN; FlgN protein
  4. XM_011248744.3XP_011247046.1  huntingtin-associated protein 1 isoform X1

    Conserved Domains (2) summary
    pfam04849
    Location:82403
    HAP1_N; HAP1 N-terminal conserved region
    cl09176
    Location:266352
    FlgN; FlgN protein
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