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Hax1 Gene Detail
Summary
  • Symbol
    Hax1
  • Name
    HCLS1 associated X-1
  • Synonyms
    HAX-1, HS1-associated protein X-1, Hs1bp1, mHAX-1s, Silg111
  • Feature Type
    protein coding gene
  • IDs
    MGI:1346319
    NCBI Gene: 23897
  • Gene Overview
    MyGene.info: HAX1
Location & Maps
more
  • Sequence Map
    Chr3:89995446-89998780 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      3335 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 3, 39.19 cM, cytoband F2
  • Mapping Data
    2 experiments
Homology
more
  • Human Ortholog
    HAX1, HCLS1 associated protein X-1
  • Vertebrate Orthologs
    9
  • Human Ortholog
    HAX1, HCLS1 associated protein X-1
    Orthology source: HGNC, HomoloGene
  • Synonyms
    HCLSBP1, HS1BP1, SCN3
  • Links
    NCBI Gene ID: 10456
    neXtProt AC: NX_O00165

  • Chr Location
    1q21.3; chr1:154272563-154275875 (+)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with human HAX1 associations

Human Disease Mouse Models
       Neutropenia, Severe Congenital, 3, Autosomal Recessive; SCN3   OMIM: 610738
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    39 phenotypes from 2 alleles in 2 genetic backgrounds
    1 phenotype from multigenic genotypes
    13 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.
  • All Mutations and Alleles
    23
  • Chemically induced (other)
    1
  • Gene trapped
    17
  • Radiation induced
    1
  • Targeted
    4
  • Genomic Mutations
    2 involving Hax1
  • Incidental Mutations
Mice homozygous for deletion of this gene fail to survive beyond 14 weeks of age. Apoptosis of neurons in the striatum and cerebellum occurs as does loss of lymphocytes and neutrophiles.
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 OTTMUSG00000052886 VEGA Gene Model | MGI Sequence Detail 3335 C57BL/6J ±  kb
transcript OTTMUST00000132343 VEGA | MGI Sequence Detail 1139 Not Applicable  
polypeptide OTTMUSP00000070564 VEGA | MGI Sequence Detail 280 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    15 from dbSNP Build 142
Protein
Information
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  • UniProt
    11 Sequences
  • Protein Ontology
    PR:000008455 HCLS1-associated protein X-1
  • InterPro Domains
    IPR017248 HS1-associating protein X-1
Molecular
Reagents
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  • All nucleic 12
    cDNA 11
    Other 1

    Microarray probesets 4
Other
Accession IDs
less
MGD-MRK-33699, MGI:106017
References
more
  • Summaries
    All 45
    Developmental Gene Expression 1
    Gene Ontology 8
    Phenotypes 13
  • Earliest
    J:22945 Mixter PF, et al., Decreased CD4-CD8- TCR-alpha beta + cells in lpr/lpr mice lacking beta 2-microglobulin. J Immunol. 1995 Mar 1;154(5):2063-74
  • Latest
    J:228066 Lam CK, et al., HAX-1 regulates cyclophilin-D levels and mitochondria permeability transition pore in the heart. Proc Natl Acad Sci U S A. 2015 Nov 24;112(47):E6466-75

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
07/19/2016
MGI 6.04
The Jackson Laboratory