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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
  • Alliance
    gene page
  • Transcription Start Sites
    4 TSS
Location &
Maps
more
  • Sequence Map
    Chr3:89902753-89906023 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 3, 39.19 cM, cytoband F2
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    104 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1346319
 protein coding gene Chr3:89902753-89906087 (-)
129S1/SvImJ MGP_129S1SvImJ_G0027450
 protein coding gene Chr3:90254269-90260192 (-)
A/J MGP_AJ_G0027414
 protein coding gene Chr3:87263408-87267161 (-)
AKR/J MGP_AKRJ_G0027378
 protein coding gene Chr3:89397342-89401012 (-)
BALB/cJ MGP_BALBcJ_G0027423
 protein coding gene Chr3:87225106-87229697 (-)
C3H/HeJ MGP_C3HHeJ_G0027165
 protein coding gene Chr3:89576512-89580850 (-)
C57BL/6NJ MGP_C57BL6NJ_G0027869
 protein coding gene Chr3:93642472-93646407 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0025221
 protein coding gene Chr3:82756254-82759680 (-)
CAST/EiJ MGP_CASTEiJ_G0026611
 protein coding gene Chr3:89947172-89950498 (-)
CBA/J MGP_CBAJ_G0027139
 protein coding gene Chr3:96891869-96895991 (-)
DBA/2J MGP_DBA2J_G0027277
 protein coding gene Chr3:86634167-86640556 (-)
FVB/NJ MGP_FVBNJ_G0027245
 protein coding gene Chr3:84972327-84975874 (-)
LP/J MGP_LPJ_G0027386
 protein coding gene Chr3:91328309-91332255 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0027265
 protein coding gene Chr3:103070212-103074177 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0027928
 protein coding gene Chr3:89142791-89146332 (-)
PWK/PhJ MGP_PWKPhJ_G0026345
 protein coding gene Chr3:86523918-86529947 (-)
SPRET/EiJ MGP_SPRETEiJ_G0026164
 protein coding gene Chr3:88319866-88323209 (-)
WSB/EiJ MGP_WSBEiJ_G0026693
 protein coding gene Chr3:89542806-89547412 (-)



Homology
more
  • Human Ortholog
    HAX1, HCLS1 associated protein X-1
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    HAX1, HCLS1 associated protein X-1
  • Synonyms
    HCLSBP1, HS1BP1, SCN3
  • Links
    NCBI Gene ID: 10456
    neXtProt AC: NX_O00165
    UniProt: O00165

  • Chr Location
    1q21.3; chr1:154272355-154275875 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with human HAX1 associations

Human Disease Mouse Models
      
IDs
Click on a disease name to see all genes associated with that disease.

  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    39 phenotypes from 2 alleles in 2 genetic backgrounds
    1 phenotype from multigenic genotypes
    19 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.
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
less
  • All GO Annotations
    58
  • GO References
    13
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
    709
  • Tissues
    3
  • cDNA Data
    12
  • Literature Summary
    3
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 23897 NCBI Gene Model | MGI Sequence Detail 3271 C57BL/6J ±  kb
    transcript NM_001310681 RefSeq | MGI Sequence Detail 1239 C57BL/6  
    polypeptide O35387 UniProt | EBI | MGI Sequence Detail 280 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 13
      cDNA 12
      Other 1

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGD-MRK-33699, MGI:106017
    References
    more
    • Summaries
      All 65
      Developmental Gene Expression 3
      Diseases 1
      Gene Ontology 13
      Phenotypes 19
    • 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:326220 Hoye ML, et al., Aberrant cortical development is driven by impaired cell cycle and translational control in a DDX3X syndrome model. Elife. 2022 Jun 28;11:e78203
    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