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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
    gene page
  • Transcription Start Sites
    6 TSS
Location &
Maps
more
  • Sequence Map
    Chr11:100238153-100246954 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 11, 63.47 cM, cytoband D
  • Mapping Data
    5 experiments
Strain
Comparison
more
  • SNPs within 2kb
    333 from dbSNP Build 142
  • Strain Annotations
    18
  • PCR
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1261831
 protein coding gene Chr11:100238153-100247808 (-)
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
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    HAP1, huntingtin associated protein 1
  • Synonyms
    HAP2, hHLP1, HIP5, HLP
  • Links
    NCBI Gene ID: 9001
    neXtProt AC: NX_P54257
    UniProt: P54257

  • Chr Location
    17q21.2; chr17:41717739-41734646 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with Hap1 mouse models; 1 with human HAP1 associations

Human Disease Mouse Models
      
IDs
 View 2 models
      
IDs
 View 2 "NOT" 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
less
  • Phenotype Summary
    34 phenotypes from 6 alleles in 10 genetic backgrounds
    3 phenotypes from multigenic genotypes
    2 images
    32 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
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
neoplasm
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
    80
  • GO References
    19
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 differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
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
    977
  • Tissues
    137
  • cDNA Data
    86
  • Literature Summary
    13
  • Comparison Matrix
    Gene Expression + Phenotype
    • 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 96
      Genomic 4
      cDNA 86
      Primer pair 4
      Other 2

      Microarray probesets 3
    References
    more
    • Summaries
      All 82
      Developmental Gene Expression 13
      Diseases 3
      Gene Ontology 19
      Phenotypes 32
    • 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:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136
    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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    Send questions and comments to User Support.     		last database update
    12/10/2024
    MGI 6.24     		The Jackson Laboratory