HAX1 (HCLS1 associated protein X-1)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Entrez ID 10456
Gene name HCLS1 associated protein X-1
Gene symbol HAX1
Synonyms (NCBI Gene)
HCLSBP1HS1BP1SCN3
Chromosome 1
Chromosome location 1q21.3
Summary The protein encoded by this gene is known to associate with hematopoietic cell-specific Lyn substrate 1, a substrate of Src family tyrosine kinases. It also interacts with the product of the polycystic kidney disease 2 gene, mutations in which are associa
SNPs SNP information provided by dbSNP.
12
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
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SNP ID Visualize variation Clinical significance Consequence
rs74315322 C>T Pathogenic Stop gained, coding sequence variant
rs121908165 C>G,T Pathogenic Stop gained, missense variant, coding sequence variant
rs146452018 T>C,G Likely-pathogenic Intron variant, missense variant, coding sequence variant
rs371504152 A>G Likely-pathogenic Splice acceptor variant
rs745666437 G>-,GG Pathogenic Coding sequence variant, frameshift variant, intron variant
miRNA miRNA information provided by mirtarbase database.
63
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
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miRTarBase ID miRNA Experiments Reference
MIRT020740 hsa-miR-155-5p Proteomics 18668040
MIRT043362 hsa-miR-331-3p CLASH 23622248
MIRT450005 hsa-miR-8083 PAR-CLIP 22100165
MIRT450004 hsa-miR-4635 PAR-CLIP 22100165
MIRT450003 hsa-miR-605-3p PAR-CLIP 22100165
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
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Transcription factor Regulation Reference
NFKB1 Unknown 19679660
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
50
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
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GO ID Ontology Definition Evidence Reference
GO:0000932 Component P-body IEA
GO:0005515 Function Protein binding IPI 11554782, 16971486, 17008324, 17500595, 20171186, 20406461, 20631090, 20665473, 21217774, 21567072, 22570112, 24188827, 25036637, 25416956, 26915802, 26997484, 32814053, 33961781
GO:0005634 Component Nucleus IEA
GO:0005635 Component Nuclear envelope TAS 9058808
GO:0005667 Component Transcription regulator complex IDA 23001182
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
605998 16915 ENSG00000143575
Protein Protein information from UniProt database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O00165
Protein name HCLS1-associated protein X-1 (HS1-associating protein X-1) (HAX-1) (HS1-binding protein 1) (HSP1BP-1)
Protein function Recruits the Arp2/3 complex to the cell cortex and regulates reorganization of the cortical actin cytoskeleton via its interaction with KCNC3 and the Arp2/3 complex (PubMed:26997484). Slows down the rate of inactivation of KCNC3 channels (PubMed
Family and domains
Tissue specificity TISSUE SPECIFICITY: Ubiquitous. Up-regulated in oral cancers. {ECO:0000269|PubMed:17545607, ECO:0000269|PubMed:9058808}.
Sequence 
MSLFDLFRGFFGFPGPRSHRDPFFGGMTRDEDDDEEEEEEGGSWGRGNPRFHSPQHPPEE
FGFGFSFSPGGGIRFHDNFGFDDLVRDFNSIFSDMGAWTLPSHPPELPGPESETPGERLR
EGQTLRDSMLKYPDSHQPRIFGGVLESDARSESPQPAPDWGSQRPFHRFDDVWPMDPHPR
TREDNDLDSQVSQEGLGPVLQPQPKSYFKSISVTKITKPDGIVEERRTVVDSEGRTETTV
TRHEADSSPRGDPESPRPPALDDAFSILDLFLGRWFRSR
Sequence length 279
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
395
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (7)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Likely pathogenic rs371504152 RCV005902029
Familial cancer of breast Likely pathogenic rs371504152 RCV005902028
HAX1-related disorder Likely pathogenic; Pathogenic rs201707963 RCV003408320
Hepatocellular carcinoma Pathogenic rs2149140495 RCV005868482
Show/Hide Unknown Diseases (2)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Decreased total neutrophil count Uncertain significance rs146452018 RCV001003790
Hereditary insensitivity to pain with anhidrosis Benign; Likely benign rs13796 RCV001537653
Show/Hide Text Mining Associations (63)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Abscess Associate 37993852
Adenocarcinoma of Lung Associate 32769881
Arthritis Psoriatic Stimulate 12787133
Ataxia Telangiectasia Associate 40118053
Breast Neoplasms Stimulate 20196840
Breast Neoplasms Associate 28347249
Carcinogenesis Associate 20196840
Carcinoma Hepatocellular Stimulate 26339377
Carcinoma Hepatocellular Associate 31132019, 33000203
Carcinoma Non Small Cell Lung Stimulate 32926529