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Hap1 Gene Detail
Summary
  • Symbol
    Hap1
  • Name
    huntingtin-associated protein 1
  • Synonyms
    HAP-1
  • Feature Type
    protein coding gene
  • IDs
    MGI:1261831
    NCBI Gene: 15114
Location & Maps
more
  • Sequence Map
    Chr11:100347327-100356128 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      8802 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    HAP1, huntingtin-associated protein 1
  • Vertebrate Orthologs
    6
  • Human Ortholog
    HAP1, huntingtin-associated protein 1
    Orthology source: HGNC, HomoloGene
  • Synonyms
    HAP2, hHLP1, HIP5, HLP
  • Links
    NCBI Gene ID: 9001
    neXtProt AC: NX_P54257

  • Chr Location
    17q21.2-q21.3; chr17:41722639-41734646 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    2 with Hap1 mouse models

Human Disease Mouse Models
       Huntington Disease; HD   OMIM: 143100
Major Depressive Disorder; MDD   OMIM: 608516 View 2 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    3 with disease annotations
  • References
    3 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    30 phenotypes from 5 alleles in 9 genetic backgrounds
    3 phenotypes from multigenic genotypes
    2 images
    21 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
tumorigenesis
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    9
  • Targeted
    9
  • Genomic Mutations
    1 involving Hap1
  • Incidental Mutations
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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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 sequence
Polymorphisms
less
  • SNPs within 2kb
    68 from dbSNP Build 142
  • PCR
Protein
Information
less
  • UniProt
    4 Sequences
  • Protein Ontology
    PR:000008443 huntingtin-associated protein 1
  • InterPro Domains
    IPR006933 HAP1, N-terminal
Molecular
Reagents
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  • All nucleic 93
    Genomic 4
    cDNA 85
    Primer pair 4

    Microarray probesets 3
References
more
  • Summaries
    All 56
    Developmental Gene Expression 11
    Diseases 3
    Gene Ontology 14
    Phenotypes 21
  • 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:224698 Xiang J, et al., Postnatal loss of hap1 reduces hippocampal neurogenesis and causes adult depressive-like behavior in mice. PLoS Genet. 2015 Apr;11(4):e1005175

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
04/26/2016
MGI 6.03
The Jackson Laboratory