ENSG00000143575


Homo sapiens

Features
Gene ID: ENSG00000143575
  
Biological name :HAX1
  
Synonyms : HAX1 / HCLS1 associated protein X-1 / O00165
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 1
Strand: 1
Band: q21.3
Gene start: 154272511
Gene end: 154275875
  
Corresponding Affymetrix probe sets: 201145_at (Human Genome U133 Plus 2.0 Array)   244865_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000394920
Ensembl peptide - ENSP00000435088
Ensembl peptide - ENSP00000433951
Ensembl peptide - ENSP00000411448
Ensembl peptide - ENSP00000403848
Ensembl peptide - ENSP00000329002
NCBI entrez gene - 10456     See in Manteia.
OMIM - 605998
RefSeq - NM_006118
RefSeq - NM_001018837
RefSeq Peptide - NP_001018238
RefSeq Peptide - NP_006109
swissprot - Q5VYD6
swissprot - A0A0S2Z591
swissprot - A0A0S2Z565
swissprot - O00165
swissprot - E9PIQ7
Ensembl - ENSG00000143575
  
Related genetic diseases (OMIM): 610738 - Neutropenia, severe congenital 3, autosomal recessive, 610738
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 hax1ENSDARG00000036764Danio rerio
 Hax1ENSMUSG00000027944Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR017248  HS1-associating protein X-1


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0014068 positive regulation of phosphatidylinositol 3-kinase signaling IMP
 biological_processGO:0030833 regulation of actin filament polymerization IMP
 biological_processGO:0030854 positive regulation of granulocyte differentiation IMP
 biological_processGO:0033138 positive regulation of peptidyl-serine phosphorylation IMP
 biological_processGO:0042981 regulation of apoptotic process TAS
 biological_processGO:0043066 negative regulation of apoptotic process IMP
 biological_processGO:0045944 positive regulation of transcription by RNA polymerase II IMP
 biological_processGO:0050731 positive regulation of peptidyl-tyrosine phosphorylation IMP
 biological_processGO:0051897 positive regulation of protein kinase B signaling IMP
 biological_processGO:0071345 cellular response to cytokine stimulus IMP
 biological_processGO:1903146 regulation of autophagy of mitochondrion TAS
 biological_processGO:1903214 regulation of protein targeting to mitochondrion TAS
 biological_processGO:2000251 positive regulation of actin cytoskeleton reorganization IMP
 cellular_componentGO:0000932 P-body IEA
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005635 nuclear envelope TAS
 cellular_componentGO:0005667 transcription factor complex IDA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005739 mitochondrion IDA
 cellular_componentGO:0005741 mitochondrial outer membrane IDA
 cellular_componentGO:0005758 mitochondrial intermembrane space IDA
 cellular_componentGO:0005783 endoplasmic reticulum TAS
 cellular_componentGO:0005886 plasma membrane IEA
 cellular_componentGO:0005938 cell cortex IEA
 cellular_componentGO:0015629 actin cytoskeleton ISS
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016529 sarcoplasmic reticulum IEA
 cellular_componentGO:0030027 lamellipodium ISS
 cellular_componentGO:0031410 cytoplasmic vesicle IEA
 cellular_componentGO:0031965 nuclear membrane IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0019966 interleukin-1 binding IDA
 molecular_functionGO:0047485 protein N-terminus binding IDA


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0001250 Seizures "Seizures are an intermittent `abnormality of the central nervous system` (FMA:HP:0002011) due to a sudden, excessive, disorderly discharge of cerebral neurons and characterized clinically by some combination of disturbance of sensation, loss of consciousness, impairment of psychic function, or convulsive movements." [HPO:probinson]
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 HP:0001263 Developmental retardation "A delay in the achievement of motor or mental milestones manifested prior to age 18 and generally associated with lifelong mental and/or physical impairments." [HPO:curators]
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 HP:0001875 Neutropenia 
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 HP:0001909 Leukemia "A cancer of the blood and bone marrow characterized by an abnormal proliferation of leukocytes." [HPO:curators]
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 HP:0002718 Recurrent bacterial infections 
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 HP:0002863 Myelodysplasia 
Show

 HP:0003593 Early onset 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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