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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

HCOP human homology predictions: HAP1
Gene Tree: Hap1

Human
homologs
HAP1, huntingtin-associated protein 1
Orthology source: HomoloGene, HGNC

IDs:
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.p2

Mutations,
alleles, and
phenotypes
All mutations/alleles(8) : Targeted(8)
Genomic Mutations involving Hap1 (1)
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: (56 annotations)
Process anterograde axon cargo transport, autophagy, ...
Component autophagosome, axon terminus, ...
Function brain-derived neurotrophic factor binding, identical protein binding, ...
External Resources: FuncBase
Expression
Literature Summary: (11 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)
Other mouse links: Allen Institute   GENSAT   GEO   Expression Atlas
Other vertebrate links: Xenbase hap1    NEW 
Molecular
reagents
All nucleic(93) Genomic(4) cDNA(85) Primer pair(4)
Microarray probesets(3)
Other database
links
VEGA Gene Model OTTMUSG00000006280 (Evidence)
Ensembl Gene Model ENSMUSG00000006930 (Evidence)
Entrez Gene 15114 (Evidence)
UniGene 281700
DFCI TC1588919, TC1574585
DoTS DT.491161, DT.101198509, DT.97377451
NIA Mouse Gene Index U033420
Consensus CDS Project CCDS25419.1, CCDS56806.1
International Mouse Phenotyping Consortium Status Hap1
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(53) RefSeq(10) 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:218509 Kim HJ, et al., Patterns of gene expression associated with Pten deficiency in the developing inner ear. PLoS One. 2014;9(6):e97544
All references(57)
Disease annotation references (2)

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
06/23/2015
MGI 5.22
The Jackson Laboratory