HAX1 (HCLS1 associated protein X-1)

Gene

• Entrez ID: 10456
• Gene name: HCLS1 associated protein X-1
• Gene symbol: HAX1
• Synonyms (NCBI Gene): HCLSBP1, HS1BP1, SCN3
• 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 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

miRNA

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

Transcription factor	Regulation	Reference
NFKB1	Unknown	19679660

Gene ontology (GO)

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
GO:0005737	Component	Cytoplasm	IEA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IDA	9058808
GO:0005739	Component	Mitochondrion	IEA
GO:0005741	Component	Mitochondrial outer membrane	IDA	17008324
GO:0005758	Component	Mitochondrial intermembrane space	IDA	17008324
GO:0005759	Component	Mitochondrial matrix	IEA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005783	Component	Endoplasmic reticulum	ISS
GO:0005783	Component	Endoplasmic reticulum	TAS	9058808
GO:0005886	Component	Plasma membrane	IEA
GO:0005938	Component	Cell cortex	IEA
GO:0007005	Process	Mitochondrion organization	IMP	17008324
GO:0015629	Component	Actin cytoskeleton	IBA
GO:0015629	Component	Actin cytoskeleton	IEA
GO:0015629	Component	Actin cytoskeleton	ISS
GO:0016020	Component	Membrane	IEA
GO:0016324	Component	Apical plasma membrane	IBA
GO:0016324	Component	Apical plasma membrane	IEA
GO:0016529	Component	Sarcoplasmic reticulum	IBA
GO:0016529	Component	Sarcoplasmic reticulum	IEA
GO:0019904	Function	Protein domain specific binding	IEA
GO:0019966	Function	Interleukin-1 binding	IDA	11554782
GO:0030027	Component	Lamellipodium	IEA
GO:0030027	Component	Lamellipodium	ISS
GO:0030136	Component	Clathrin-coated vesicle	IBA
GO:0030136	Component	Clathrin-coated vesicle	IEA
GO:0030833	Process	Regulation of actin filament polymerization	IBA
GO:0030833	Process	Regulation of actin filament polymerization	IMP	23001182
GO:0030854	Process	Positive regulation of granulocyte differentiation	IMP	23001182
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0031965	Component	Nuclear membrane	IEA
GO:0035591	Function	Signaling adaptor activity	IMP	23001182
GO:0038158	Process	Granulocyte colony-stimulating factor signaling pathway	IMP	23001182
GO:0042981	Process	Regulation of apoptotic process	TAS	24522549
GO:0043066	Process	Negative regulation of apoptotic process	IBA
GO:0043066	Process	Negative regulation of apoptotic process	IEA
GO:0043066	Process	Negative regulation of apoptotic process	IMP	17008324
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IMP	23001182
GO:0051897	Process	Positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IMP	23001182
GO:0071345	Process	Cellular response to cytokine stimulus	IMP	23001182
GO:0110053	Process	Regulation of actin filament organization	IMP	23001182
GO:1903146	Process	Regulation of autophagy of mitochondrion	TAS	24522549
GO:1903214	Process	Regulation of protein targeting to mitochondrion	TAS	24522549

Other IDs

• MIM: 605998
• HGNC: 16915
• e!Ensembl: 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
• 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

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Acute myeloid leukemia	Likely pathogenic	rs371504152	RCV005902029	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial cancer of breast	Likely pathogenic	rs371504152	RCV005902028	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HAX1-related disorder	Likely pathogenic; Pathogenic	rs201707963	RCV003408320	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hepatocellular carcinoma	Pathogenic	rs2149140495	RCV005868482	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Kostmann syndrome	Pathogenic; Likely pathogenic	rs2149139668, rs758657008, rs2149139817, rs1487742962, rs2149139969, rs2149140065, rs2149140056, rs2149140690, rs1392118289, rs2149140495, rs1684904805, rs1425877227, rs2149139493, rs2149139793, rs2149139706, rs764765550, rs1684901295, rs1334392544, rs74315322, rs1572018284, rs121908165, rs2524933917, rs745666437, rs2524937073, rs2524932526, rs2524931096, rs201707963, rs2524924781, rs2524934196, rs2524933144, rs2524930480, rs2524924407, rs1684899990, rs2524930259, rs2524924329, rs764082747, rs1398108109, rs770288337, rs748595772, rs371504152, rs1572018886, rs374758765, rs41313932	RCV001384140 RCV003612288 RCV001380521 RCV001385664 RCV001824254 RCV002043583 RCV001891498 RCV002036929 RCV001930103 RCV002000231 RCV001980817 RCV001957928 RCV002002478 RCV001877730 RCV001928152 RCV001981089 RCV003080511 RCV003110845 RCV000004913 RCV000004914 RCV000004916 RCV000004917 RCV000004918 RCV000004919 RCV002885168 RCV003030755 RCV003008145 RCV003024753 RCV005104357 RCV003503860 RCV003612581 RCV003612812 RCV003613490 RCV003613478 RCV003612213 RCV003832465 RCV003865620 RCV003990121 RCV000706106 RCV000680006 RCV000702051 RCV000816591 RCV000809695 RCV000985095 RCV001071782 RCV001035759 RCV001215254	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Ovarian serous cystadenocarcinoma	Likely pathogenic	rs1684901295	RCV005930488	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Severe congenital neutropenia	Likely pathogenic; Pathogenic	rs1684901295, rs2524938045, rs764082747	RCV003111626 RCV003123456 RCV003155204	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
BIPOLAR DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Decreased total neutrophil count	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary insensitivity to pain with anhidrosis	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUTROPENIA, SEVERE CONGENITAL, 3, AUTOSOMAL RECESSIVE	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUTROPENIA, SEVERE CONGENITAL, AUTOSOMAL RECESSIVE 3	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Relationship Type	References	Evidence Score
Abscess	Associate	37993852	★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of Lung	Associate	32769881	★☆☆☆☆ Found in Text Mining only
Arthritis Psoriatic	Stimulate	12787133	★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Associate	40118053	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Stimulate	20196840	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Associate	28347249	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Associate	20196840	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Stimulate	26339377	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Associate	31132019, 33000203	★☆☆☆☆ Found in Text Mining only
Carcinoma Non Small Cell Lung	Stimulate	32926529	★☆☆☆☆ Found in Text Mining only
Central Nervous System Diseases	Associate	18513342	★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Associate	21108402	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Associate	32104694	★☆☆☆☆ Found in Text Mining only
Craniosynostoses	Associate	20220065	★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Associate	18055975	★☆☆☆☆ Found in Text Mining only
Epilepsy	Associate	18055975, 18337561, 18513342, 21108402, 26994629	★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Associate	23531395	★☆☆☆☆ Found in Text Mining only
Growth Retardation Developmental Delay Coarse Facies And Early Death	Associate	26994629	★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Associate	35524442	★☆☆☆☆ Found in Text Mining only
Hemorrhage	Associate	30040071	★☆☆☆☆ Found in Text Mining only
Heredodegenerative Disorders Nervous System	Associate	18513342, 21108402	★☆☆☆☆ Found in Text Mining only
Hypersensitivity Delayed	Associate	18055975, 18337561	★☆☆☆☆ Found in Text Mining only
Hypopharyngeal Neoplasms	Stimulate	28791389	★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Associate	18055975, 18337561, 20128427	★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Stimulate	20128427	★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Inhibit	35499078	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Associate	18055975	★☆☆☆☆ Found in Text Mining only
Leukemia	Associate	25298122	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Stimulate	20196840	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Stimulate	23531395, 32926529	★☆☆☆☆ Found in Text Mining only
Lymphedema	Associate	21108402	★☆☆☆☆ Found in Text Mining only
Lymphohistiocytosis Hemophagocytic	Associate	28169428	★☆☆☆☆ Found in Text Mining only
Melanoma	Associate	12787133	★☆☆☆☆ Found in Text Mining only
Melanoma	Stimulate	20196840	★☆☆☆☆ Found in Text Mining only
Mesothelioma	Associate	37556141	★☆☆☆☆ Found in Text Mining only
Mitochondrial Myopathy with a Defect in Mitochondrial Protein Transport	Associate	35499078	★☆☆☆☆ Found in Text Mining only
Mucormycosis	Associate	19123440	★☆☆☆☆ Found in Text Mining only
Muscular dystrophy congenital with central nervous system involvement	Associate	18513342	★☆☆☆☆ Found in Text Mining only
Myeloproliferative Syndrome Transient	Associate	20220065	★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Associate	35524442	★☆☆☆☆ Found in Text Mining only
Neoplasm Metastasis	Associate	20196840, 28791389, 31132019, 32926529, 35524442	★☆☆☆☆ Found in Text Mining only
Neoplasms	Associate	20196840, 20665473, 28347249, 32104694, 36230905	★☆☆☆☆ Found in Text Mining only
Neoplasms	Stimulate	28791389, 32926529	★☆☆☆☆ Found in Text Mining only
Nervous System Diseases	Associate	21108402	★☆☆☆☆ Found in Text Mining only
Neurologic Manifestations	Associate	18513342	★☆☆☆☆ Found in Text Mining only
Neutropenia	Associate	20220065, 23454784, 28169428	★☆☆☆☆ Found in Text Mining only
Neutropenia severe chronic	Associate	37993852	★☆☆☆☆ Found in Text Mining only
Neutropenia Severe Congenital Autosomal Recessive 3	Associate	18055975, 18337561, 18513342, 19036076, 19123440, 19398129, 19775295, 20128427, 20220065, 21108402, 21518791, 21891829, 22624626, 23454784, 23975175, 26637693, 26994629, 28169428, 30040071, 33560392, 36230905, 37993852	★☆☆☆☆ Found in Text Mining only
Oculodental syndrome Rutherfurd syndrome	Associate	37993852	★☆☆☆☆ Found in Text Mining only
Otitis Media	Associate	37993852	★☆☆☆☆ Found in Text Mining only
Pneumonia	Associate	37993852	★☆☆☆☆ Found in Text Mining only
Psoriasis	Stimulate	12787133	★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Associate	18055975	★☆☆☆☆ Found in Text Mining only
Respiratory Tract Infections	Associate	26994629	★☆☆☆☆ Found in Text Mining only
Sepsis	Associate	37993852	★☆☆☆☆ Found in Text Mining only
Speech Disorders	Associate	26994629	★☆☆☆☆ Found in Text Mining only
Spinal Cord Injuries	Associate	35302298	★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Associate	28791389	★☆☆☆☆ Found in Text Mining only
Stomatitis	Associate	26994629	★☆☆☆☆ Found in Text Mining only
Tertiary Lymphoid Structures	Associate	23531395	★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Associate	27618431	★☆☆☆☆ Found in Text Mining only
Tuberous Sclerosis	Associate	21108402	★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Associate	33015771	★☆☆☆☆ Found in Text Mining only