HAX1 (HCLS1 associated protein X-1)

Gene
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
10456
Gene name Gene Name - the full gene name approved by the HGNC.
HCLS1 associated protein X-1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
HAX1
Synonyms (NCBI Gene) Gene synonyms aliases
HCLSBP1, HS1BP1, SCN3
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1q21.3
Summary Summary of gene provided in NCBI Entrez Gene.
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.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Show/Hide all(12)
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.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Show/Hide all(63)
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
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Show/Hide all(1)
Transcription factor Regulation Reference
NFKB1 Unknown 19679660
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Show/Hide all(50)
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
605998 16915 ENSG00000143575
Protein
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Kostmann Syndrome kostmann syndrome rs1572018886, rs74315322, rs374758765, rs1572018284, rs1684901295, rs758657008, rs121908165, rs745666437, rs764082747, rs1398108109, rs770288337, rs748595772, rs371504152 N/A
Show/Hide Unknown Diseases (4)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Bipolar Disorder Bipolar disorder N/A N/A GWAS
hereditary insensitivity to pain with anhidrosis Hereditary insensitivity to pain with anhidrosis N/A N/A ClinVar
Neutropenia neutropenia N/A N/A ClinVar
Schizophrenia Schizophrenia N/A N/A GWAS
Show/Hide Text Mining Associations (63)
Associations from Text Mining Disease 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