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

Gene ID: 15114, updated on 5-Jan-2023

Summary

Official Symbol
Hap1provided by MGI
Official Full Name
huntingtin-associated protein 1provided by MGI
Primary source
MGI:MGI:1261831
See related
Ensembl:ENSMUSG00000006930 AllianceGenome:MGI:1261831
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
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Genomic context

See Hap1 in Genome Data Viewer
Location:
11 63.47 cM; 11 D
Exon count:
14
Annotation release Status Assembly Chr Location
109 current GRCm39 (GCF_000001635.27) 11 NC_000077.7 (100238153..100247808, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 11 NC_000077.6 (100347327..100356982, complement)

Chromosome 11 - NC_000077.7Genomic Context describing neighboring genes Neighboring gene eukaryotic translation initiation factor 1 Neighboring gene gastrin Neighboring gene predicted pseudogene 10039 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)

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

General protein information

Preferred Names
huntingtin-associated protein 1

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_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
    ENSMUSP00000099413.5, ENSMUST00000103124.11
    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
    O35636, O35668
    Related
    ENSMUSP00000133356.2, ENSMUST00000138603.9
    Conserved Domains (1) summary
    pfam04849
    Location:82402
    HAP1_N; HAP1 N-terminal conserved region

RefSeqs of Annotated Genomes: Mus musculus Annotation Release 109 details...Open this link in a new tab

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000077.7 Reference GRCm39 C57BL/6J

    Range
    100238153..100247808 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    UniProtKB/Swiss-Prot
    O35636
    Conserved Domains (1) summary
    pfam04849
    Location:82402
    HAP1_N; HAP1 N-terminal conserved region
  2. XM_030245580.1XP_030101440.1  huntingtin-associated protein 1 isoform X1

    Conserved Domains (1) summary
    pfam04849
    Location:82403
    HAP1_N; HAP1 N-terminal conserved region
  3. XM_011248745.4XP_011247047.1  huntingtin-associated protein 1 isoform X3

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

    Conserved Domains (1) summary
    pfam04849
    Location:82403
    HAP1_N; HAP1 N-terminal conserved region