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Hap1
Gene Detail
Symbol

Name
ID
Hap1
huntingtin-associated protein 1
MGI:1261831
Synonyms
HAP-1
Feature Type
protein coding gene
Genetic Map
Chromosome 11
63.47 cM, cytoband D
Detailed Genetic Map ± 1 cM


Mapping data(5)
Sequence Map
Chr11:100347327-100356128 bp, - strand
From VEGA annotation of GRCm38

  8802 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:2935  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 cattle; 1 dog

Gene Tree: Hap1

Human
homologs
Human Homolog HAP1, huntingtin-associated protein 1
NCBI Gene ID 9001
neXtProt AC  NX_P54257
Human Synonyms  HAP2, hHLP1, HIP5, HLP
Human Chr (Location)  17q21.2-q21.3; chr17:41722639-41734646 (-)  GRCh38
Mutations,
alleles, and
phenotypes
All mutations/alleles(7) : Targeted(7)
Incidental mutations (data from Mutagenetix , APF )
 
Homozygous mutant mice are viable at birth but show neurodegeneration in areas of the brain including the regions of the hypothalamus that control feeding behavior. Mutant mice exhibit decreased feeding behavior and die between 2 and 15 days after birth.
 
Phenotype Images(2)
Interactions
Hap1 interacts with 160 markers (Mir1b, Mir7-1, Mir7-2, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (41 annotations)
Process anterograde axon cargo transport, cerebellum development, ...
Component autophagic vacuole, axon terminus, ...
Function brain-derived neurotrophic factor binding, identical protein binding, ...
External Resources: FuncBase
Expression
Literature Summary: (10 records)
Data Summary: Results (252)    Tissues (125)    Images (42)    Tissue x Stage Matrix (view)
Assay TypeResults
Immunohistochemistry 16
RNA in situ 225
Western blot 6
RT-PCR 5
cDNA source data(85)
External Resources: Allen Institute   GENSAT   GEO   Expression Atlas
Molecular
reagents
All nucleic(93) Genomic(4) cDNA(85) Primer pair(4)
Microarray probesets(3)
Other database
links
VEGA Gene ModelOTTMUSG00000006280 (Evidence)
Ensembl Gene ModelENSMUSG00000006930 (Evidence)
Entrez Gene15114 (Evidence)
UniGene281700
DFCITC1574585, TC1588919
DoTSDT.101198509, DT.491161, DT.97377451
NIA Mouse Gene IndexU033420
Consensus CDS ProjectCCDS25419.1, CCDS56806.1
International Mouse Knockout Project StatusHap1
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000006280 VEGA Gene Model | MGI Sequence Detail 8802 C57BL/6J ±  kb
transcript OTTMUST00000014218 VEGA | MGI Sequence Detail 3316 Not Applicable 
polypeptide OTTMUSP00000053773 VEGA | MGI Sequence Detail 628 Not Applicable 

For the selected sequences
All sequences(56) RefSeq(13) UniProt(4)
Polymorphisms
PCR(1) : SNPs within 2kb(64 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR006933 HAP1, N-terminal
Protein Ontology PR:000008443 huntingtin-associated protein 1
References
(Earliest) J:47245 Bertaux F, et al., HAP1-huntingtin interactions do not contribute to the molecular pathology in Huntington's disease transgenic mice. FEBS Lett. 1998 Apr 17;426(2):229-32
(Latest) J:213185 Mackenzie KD, et al., Huntingtin-associated protein 1 regulates exocytosis, vesicle docking, readily releasable pool size and fusion pore stability in mouse chromaffin cells. J Physiol. 2014 Apr 1;592(Pt 7):1505-18
All references(56)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
10/08/2014
MGI 5.20
The Jackson Laboratory