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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
  • Alliance
  • Transcription Start Sites
    6 TSS
Location &
Maps
more
  • Sequence Map
    Chr11:100347327-100356128 bp, - strand
  • From Ensembl annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 11, 63.47 cM, cytoband D
  • Mapping Data
    5 experiments
Strain
Comparison
more
  • SNPs within 2kb
    68 from dbSNP Build 142
  • Strain Annotations
    18
  • PCR
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1261831
protein coding gene Chr11:100347327-100356350 (-)
129S1/SvImJ MGP_129S1SvImJ_G0019151
protein coding gene Chr11:103107230-103115991 (-)
A/J MGP_AJ_G0019119
protein coding gene Chr11:98793654-98802623 (-)
AKR/J MGP_AKRJ_G0019088
protein coding gene Chr11:101837359-101846158 (-)
BALB/cJ MGP_BALBcJ_G0019093
protein coding gene Chr11:99276969-99286328 (-)
C3H/HeJ MGP_C3HHeJ_G0018902
protein coding gene Chr11:102038655-102048781 (-)
C57BL/6NJ MGP_C57BL6NJ_G0019542
protein coding gene Chr11:106302667-106311460 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0017168
protein coding gene Chr11:96210236-96219147 (-)
CAST/EiJ MGP_CASTEiJ_G0018456
protein coding gene Chr11:103000979-103011861 (-)
CBA/J MGP_CBAJ_G0018871
protein coding gene Chr11:110731643-110741868 (-)
DBA/2J MGP_DBA2J_G0018983
protein coding gene Chr11:98335122-98344546 (-)
FVB/NJ MGP_FVBNJ_G0018972
protein coding gene Chr11:97847492-97872838 (-)
LP/J MGP_LPJ_G0019052
protein coding gene Chr11:103647831-103657224 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0019004
protein coding gene Chr11:110347514-110356698 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0019580
protein coding gene Chr11:102185320-102194600 (-)
PWK/PhJ MGP_PWKPhJ_G0018219
protein coding gene Chr11:99370191-99380264 (-)
SPRET/EiJ MGP_SPRETEiJ_G0018011
protein coding gene Chr11:101901113-101909898 (-)
WSB/EiJ MGP_WSBEiJ_G0018505
protein coding gene Chr11:102167800-102177104 (-)



Homology
more
  • Human Ortholog
    HAP1, huntingtin associated protein 1
  • Vertebrate Orthologs
    6
  • Human Ortholog
    HAP1, huntingtin associated protein 1
    Orthology source: HomoloGene, HGNC
  • Synonyms
    HAP2, hHLP1, HIP5, HLP
  • Links
    NCBI Gene ID: 9001
    neXtProt AC: NX_P54257
    UniProt: P54257

  • Chr Location
    17q21.2; chr17:41722639-41734646 (-)  GRCh38.p7

Human Diseases
more
  • Diseases
    1 with Hap1 mouse models

Human Disease Mouse Models
      
IDs
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
    34 phenotypes from 6 alleles in 10 genetic backgrounds
    3 phenotypes from multigenic genotypes
    2 images
    29 phenotype references
Phenotype Overview

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

Click cells to view annotations.
Homozygous inactivation of this gene results in abnormal feeding and/or suckling behavior, absent gastric milk in neonates, slow postnatal weight gain, and postnatal death. Degeneration in hypothalamic regions that control feeding behavior has been observed.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
  • GO References
Molecular Function

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

carbohydrate derivative metabolism
cell death
cell differentiation
cell population proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
less
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
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000006930 Ensembl Gene Model | MGI Sequence Detail 8802 C57BL/6J ±  kb
    transcript ENSMUST00000138603 Ensembl | MGI Sequence Detail 3316 Not Applicable  
    polypeptide ENSMUSP00000133356 Ensembl | MGI Sequence Detail 628 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 95
      Genomic 4
      cDNA 86
      Primer pair 4
      Other 1

      Microarray probesets 3
    References
    more
    • Summaries
      All 72
      Developmental Gene Expression 12
      Diseases 3
      Gene Ontology 15
      Phenotypes 29
    • 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:240939 Xiang J, et al., DYRK1A regulates Hap1-Dcaf7/WDR68 binding with implication for delayed growth in Down syndrome. Proc Natl Acad Sci U S A. 2017 Feb 14;114(7):E1224-E1233

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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    Funding Information
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    last database update
    10/08/2019
    MGI 6.14
    The Jackson Laboratory