Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

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
Disease Acronyms (UniProt) Disease acronyms from UniProt database	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

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
rs748595772	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs758657008	C>-,CC	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs764082747	G>-	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs770288337	G>-,GG	Pathogenic	Coding sequence variant, frameshift variant
rs1398108109	C>G	Pathogenic	Coding sequence variant, stop gained
rs1572018284	->A	Pathogenic	Intron variant, stop gained, coding sequence variant
rs1572018886	->C	Likely-pathogenic	Coding sequence variant, frameshift variant

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
MIRT450001	hsa-miR-4493	PAR-CLIP	22100165
MIRT450002	hsa-miR-6134	PAR-CLIP	22100165
MIRT450000	hsa-miR-6126	PAR-CLIP	22100165
MIRT449999	hsa-miR-6864-5p	PAR-CLIP	22100165
MIRT449998	hsa-miR-3978	PAR-CLIP	22100165
MIRT440524	hsa-miR-299-5p	HITS-CLIP	24374217
MIRT440524	hsa-miR-299-5p	HITS-CLIP	24374217
MIRT450005	hsa-miR-8083	PAR-CLIP	22100165
MIRT450004	hsa-miR-4635	PAR-CLIP	22100165
MIRT450003	hsa-miR-605-3p	PAR-CLIP	22100165
MIRT450001	hsa-miR-4493	PAR-CLIP	22100165
MIRT450002	hsa-miR-6134	PAR-CLIP	22100165
MIRT450000	hsa-miR-6126	PAR-CLIP	22100165
MIRT449999	hsa-miR-6864-5p	PAR-CLIP	22100165
MIRT449998	hsa-miR-3978	PAR-CLIP	22100165
MIRT2241116	hsa-miR-1262	CLIP-seq
MIRT2241117	hsa-miR-4506	CLIP-seq
MIRT2241118	hsa-miR-4701-3p	CLIP-seq
MIRT2437556	hsa-miR-125b	CLIP-seq
MIRT2437557	hsa-miR-3692	CLIP-seq
MIRT2437558	hsa-miR-4319	CLIP-seq
MIRT2437559	hsa-miR-544b	CLIP-seq
MIRT2437556	hsa-miR-125b	CLIP-seq
MIRT2241116	hsa-miR-1262	CLIP-seq
MIRT2544672	hsa-miR-21	CLIP-seq
MIRT2544673	hsa-miR-31	CLIP-seq
MIRT2544674	hsa-miR-3688-5p	CLIP-seq
MIRT2437557	hsa-miR-3692	CLIP-seq
MIRT2544675	hsa-miR-3921	CLIP-seq
MIRT2437558	hsa-miR-4319	CLIP-seq
MIRT2544676	hsa-miR-4477a	CLIP-seq
MIRT2241117	hsa-miR-4506	CLIP-seq
MIRT2544677	hsa-miR-4649-3p	CLIP-seq
MIRT2544678	hsa-miR-4653-5p	CLIP-seq
MIRT2241118	hsa-miR-4701-3p	CLIP-seq
MIRT2544679	hsa-miR-4757-5p	CLIP-seq
MIRT2544680	hsa-miR-541	CLIP-seq
MIRT2437559	hsa-miR-544b	CLIP-seq
MIRT2544681	hsa-miR-590-5p	CLIP-seq
MIRT2544682	hsa-miR-654-5p	CLIP-seq
MIRT2437556	hsa-miR-125b	CLIP-seq
MIRT2241116	hsa-miR-1262	CLIP-seq
MIRT2544672	hsa-miR-21	CLIP-seq
MIRT2544673	hsa-miR-31	CLIP-seq
MIRT2544674	hsa-miR-3688-5p	CLIP-seq
MIRT2437557	hsa-miR-3692	CLIP-seq
MIRT2544675	hsa-miR-3921	CLIP-seq
MIRT2437558	hsa-miR-4319	CLIP-seq
MIRT2544676	hsa-miR-4477a	CLIP-seq
MIRT2241117	hsa-miR-4506	CLIP-seq
MIRT2544677	hsa-miR-4649-3p	CLIP-seq
MIRT2544678	hsa-miR-4653-5p	CLIP-seq
MIRT2241118	hsa-miR-4701-3p	CLIP-seq
MIRT2544679	hsa-miR-4757-5p	CLIP-seq
MIRT2544680	hsa-miR-541	CLIP-seq
MIRT2437559	hsa-miR-544b	CLIP-seq
MIRT2544681	hsa-miR-590-5p	CLIP-seq
MIRT2544682	hsa-miR-654-5p	CLIP-seq

Transcription factors

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Transcription factor	Regulation	Reference
NFKB1	Unknown	19679660

Show/Hide all(35)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000932	Component	P-body	IEA
GO:0005515	Function	Protein binding	IPI	16971486, 17008324, 17500595, 20171186, 20406461, 20631090, 20665473, 21217774, 21567072, 22570112, 24188827, 25416956, 32814053
GO:0005635	Component	Nuclear envelope	TAS	9058808
GO:0005667	Component	Transcription regulator complex	IDA	23001182
GO:0005739	Component	Mitochondrion	IBA	21873635
GO:0005739	Component	Mitochondrion	IDA	9058808
GO:0005741	Component	Mitochondrial outer membrane	IDA	17008324
GO:0005758	Component	Mitochondrial intermembrane space	IDA	17008324
GO:0005783	Component	Endoplasmic reticulum	ISS
GO:0005938	Component	Cell cortex	IEA
GO:0007005	Process	Mitochondrion organization	IMP	17008324
GO:0014068	Process	Positive regulation of phosphatidylinositol 3-kinase signaling	IMP	23001182
GO:0015629	Component	Actin cytoskeleton	IBA	21873635
GO:0015629	Component	Actin cytoskeleton	ISS
GO:0016324	Component	Apical plasma membrane	IBA	21873635
GO:0016529	Component	Sarcoplasmic reticulum	IBA	21873635
GO:0019966	Function	Interleukin-1 binding	IDA	11554782
GO:0030027	Component	Lamellipodium	ISS
GO:0030136	Component	Clathrin-coated vesicle	IBA	21873635
GO:0030833	Process	Regulation of actin filament polymerization	IBA	21873635
GO:0030833	Process	Regulation of actin filament polymerization	IMP	23001182
GO:0030854	Process	Positive regulation of granulocyte differentiation	IMP	23001182
GO:0031965	Component	Nuclear membrane	IEA
GO:0033138	Process	Positive regulation of peptidyl-serine phosphorylation	IMP	23001182
GO:0042981	Process	Regulation of apoptotic process	TAS	24522549
GO:0043066	Process	Negative regulation of apoptotic process	IBA	21873635
GO:0043066	Process	Negative regulation of apoptotic process	IMP	17008324
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IMP	23001182
GO:0047485	Function	Protein N-terminus binding	IDA	11554782
GO:0050731	Process	Positive regulation of peptidyl-tyrosine phosphorylation	IMP	23001182
GO:0051897	Process	Positive regulation of protein kinase B signaling	IMP	23001182
GO:0071345	Process	Cellular response to cytokine stimulus	IMP	23001182
GO:1903146	Process	Regulation of autophagy of mitochondrion	TAS	24522549
GO:1903214	Process	Regulation of protein targeting to mitochondrion	TAS	24522549
GO:2000251	Process	Positive regulation of actin cytoskeleton reorganization	IMP	23001182

MIM	HGNC	e!Ensembl
605998	16915	ENSG00000143575

Protein

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

Show/Hide Causal Diseases (6)

Disease term	Disease name	dbSNP ID
Causal
Congenital neutropenia	Congenital neutropenia	rs118203968, rs118203969, rs118203970, rs118203971, rs267606834, rs28936381, rs137854447, rs137854448, rs137854450, rs28931611, rs137854451, rs200478425, rs587777730, rs606231474, rs606231475 View all (30 more)
Kostmann syndrome	Kostmann syndrome	rs74315322, rs1572018284, rs758657008, rs121908165, rs745666437, rs764082747, rs1398108109, rs770288337, rs748595772, rs371504152, rs1572018886, rs374758765, rs1684901295
Leukemia	leukemia	rs121909646, rs121913488, rs587776834, rs752746786, rs869312821, rs767454740, rs1554564297
Myelodysplasia	Myelodysplasia	rs141601766, rs1261178797
Myelodysplastic syndrome	MYELODYSPLASTIC SYNDROME	rs193303018, rs387906631, rs1576745225, rs373145711, rs752746786, rs377023736, rs373221034, rs1576749014, rs1600586587
Neutropenia	Neutropenia	rs879253882

Show/Hide Unknown Diseases (2)

Disease term	Disease name	Source
Unknown
Schizophrenia	Schizophrenia	GWAS
Bipolar Disorder	Bipolar Disorder	GWAS

Show/Hide Text Mining Associations (63)

Disease Name	Relationship Type	References
Associations from Text Mining
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
Central Nervous System Diseases	Associate	18513342
Cognition Disorders	Associate	21108402
Colorectal Neoplasms	Associate	32104694
Craniosynostoses	Associate	20220065
Developmental Disabilities	Associate	18055975
Epilepsy	Associate	18055975, 18337561, 18513342, 21108402, 26994629
Esophageal Squamous Cell Carcinoma	Associate	23531395
Growth Retardation Developmental Delay Coarse Facies And Early Death	Associate	26994629
Head and Neck Neoplasms	Associate	35524442
Hemorrhage	Associate	30040071
Heredodegenerative Disorders Nervous System	Associate	18513342, 21108402
Hypersensitivity Delayed	Associate	18055975, 18337561
Hypopharyngeal Neoplasms	Stimulate	28791389
Immunologic Deficiency Syndromes	Associate	18055975, 18337561, 20128427
Immunologic Deficiency Syndromes	Stimulate	20128427
Immunologic Deficiency Syndromes	Inhibit	35499078
Intellectual Disability	Associate	18055975
Leukemia	Associate	25298122
Lung Neoplasms	Stimulate	20196840
Lymphatic Metastasis	Stimulate	23531395, 32926529
Lymphedema	Associate	21108402
Lymphohistiocytosis Hemophagocytic	Associate	28169428
Melanoma	Associate	12787133
Melanoma	Stimulate	20196840
Mesothelioma	Associate	37556141
Mitochondrial Myopathy with a Defect in Mitochondrial Protein Transport	Associate	35499078
Mucormycosis	Associate	19123440
Muscular dystrophy congenital with central nervous system involvement	Associate	18513342
Myeloproliferative Syndrome Transient	Associate	20220065
Nasopharyngeal Carcinoma	Associate	35524442
Neoplasm Metastasis	Associate	20196840, 28791389, 31132019, 32926529, 35524442
Neoplasms	Associate	20196840, 20665473, 28347249, 32104694, 36230905
Neoplasms	Stimulate	28791389, 32926529
Nervous System Diseases	Associate	21108402
Neurologic Manifestations	Associate	18513342
Neutropenia	Associate	20220065, 23454784, 28169428
Neutropenia severe chronic	Associate	37993852
Neutropenia Severe Congenital Autosomal Recessive 3	Associate	18055975, 18337561, 18513342, 19036076, 19123440, 19398129, 19775295, 20128427, 20220065, 21108402, 21518791, 21891829, 22624626, 23454784, 23975175 View all (7 more)
Oculodental syndrome Rutherfurd syndrome	Associate	37993852
Otitis Media	Associate	37993852
Pneumonia	Associate	37993852
Psoriasis	Stimulate	12787133
Renal Insufficiency	Associate	18055975
Respiratory Tract Infections	Associate	26994629
Sepsis	Associate	37993852
Speech Disorders	Associate	26994629
Spinal Cord Injuries	Associate	35302298
Squamous Cell Carcinoma of Head and Neck	Associate	28791389
Stomatitis	Associate	26994629
Tertiary Lymphoid Structures	Associate	23531395
Triple Negative Breast Neoplasms	Associate	27618431
Tuberous Sclerosis	Associate	21108402
Urinary Bladder Neoplasms	Associate	33015771

HAX1 (HCLS1 associated protein X-1)