HAX1 - HCLS1 associated protein X-1 Gene

Also Known as SCN3; HS1BP1; HCLSBP1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 10456

About HAX1

Cytogenetic location: 1q21.3 Genomic coordinates (GRCh38): 1:154,272,629-154,275,875 (from NCBI)

This gene has 24 transcripts (splice variants), 198 orthologues and is associated with 3 phenotypes. Ubiquitous expression in heart (RPKM 48.3), thyroid (RPKM 38.9) and 25 other tissues.

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 associated with autosomal-dominant polycystic kidney disease, and with the F-actin-binding protein, cortactin. It was earlier thought that this gene product is mainly localized in the mitochondria, however, recent studies indicate it to be localized in the cell body. Mutations in this gene result in autosomal recessive severe congenital neutropenia, also known as Kostmann disease. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

HAX1 Products (2)

mRNA	Protein	Name
NM_001018837.2	NP_001018238.1	HCLS1-associated protein X-1 isoform b
NM_006118.4	NP_006109.2	HCLS1-associated protein X-1 isoform a

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Références	Source
enables interleukin-1 binding	IDA IDA: Inferred from direct assay	11554782	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	11554782	GOA
enables signaling adaptor activity	IMP IMP: Inferred from mutant phenotype	23001182	GOA

Biological Process GO Annotation	Evidence	Références	Source
involved in cellular response to cytokine stimulus	IMP IMP: Inferred from mutant phenotype	23001182	GOA
involved in granulocyte colony-stimulating factor signaling pathway	IMP IMP: Inferred from mutant phenotype	23001182	GOA
NOT involved in mitochondrion organization	IMP IMP: Inferred from mutant phenotype	17008324	GOA
involved in negative regulation of apoptotic process	IMP IMP: Inferred from mutant phenotype	17008324	GOA
involved in positive regulation of granulocyte differentiation	IMP IMP: Inferred from mutant phenotype	23001182	GOA
involved in positive regulation of peptidyl-tyrosine phosphorylation	IMP IMP: Inferred from mutant phenotype	23001182	GOA
involved in positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IMP IMP: Inferred from mutant phenotype	23001182	GOA
involved in positive regulation of transcription by RNA polymerase II	IMP IMP: Inferred from mutant phenotype	23001182	GOA
involved in regulation of actin filament organization	IMP IMP: Inferred from mutant phenotype	23001182	GOA
involved in regulation of actin filament polymerization	IMP IMP: Inferred from mutant phenotype	23001182	GOA

Cellular Component GO Annotation	Evidence	Références	Source
located in mitochondrial intermembrane space	IDA IDA: Inferred from direct assay	17008324	GOA
located in mitochondrial outer membrane	IDA IDA: Inferred from direct assay	17008324	GOA
located in mitochondrion	IDA IDA: Inferred from direct assay	9058808	GOA
part of transcription regulator complex	IDA IDA: Inferred from direct assay	23001182	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

Protein Preferred Names	Protein Names
HCLS1-associated protein X-1	HAX-1

HAX1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Références
Intra	HAX1	O00165	SAV1	Homo sapiens	Q9H4B6	Y2H	22570112
Intra	HAX1	O00165	SAV1	Homo sapiens	Q9H4B6	Anti Bait CoIP	21567072
Intra	HAX1	O00165	SAV1	Homo sapiens	Q9H4B6	Y2H	21567072
Intra	HAX1	O00165	SAV1	Homo sapiens	Q9H4B6	Anti Tag CoIP	22570112
Intra	HAX1	O00165	SAV1	Homo sapiens	Q9H4B6	Anti Tag CoIP	21567072
Intra	HAX1	O00165	SAV1	Homo sapiens	Q9H4B6	Pull Down	21567072
Intra	HAX1	O00165	PELO	Homo sapiens	Q9BRX2	IF	20406461
Intra	HAX1	O00165	IL1A	Homo sapiens	P01583	MAPPIT	25416956
Intra	HAX1	O00165	YWHAG	Homo sapiens	P61981	Y2H Pooling	32814053
Intra	HAX1	O00165	YWHAG	Homo sapiens	P61981	Validated Y2H	32814053
Intra	HAX1	O00165	YWHAG	Homo sapiens	P61981	Y2H Array	32814053
Intra	HAX1	O00165	HTT	Homo sapiens	P42858	Validated Y2H	32814053
Intra	HAX1	O00165	HTT	Homo sapiens	P42858	Y2H Pooling	32814053
Intra	HAX1	O00165	HTT	Homo sapiens	P42858	Y2H	17500595
Intra	HAX1	O00165	HTT	Homo sapiens	P42858	Y2H Array	32814053
Intra	HAX1	O00165	TPCN1	Homo sapiens	Q9ULQ1	Pull Down	24188827
Intra	HAX1	O00165	TPCN2	Homo sapiens	Q8NHX9	Y2H	24188827
Intra	HAX1	O00165	TPCN2	Homo sapiens	Q8NHX9	Anti Tag CoIP	24188827
Intra	HAX1	O00165	SETDB1	Homo sapiens	Q15047-2	Y2H Array	32814053
Intra	HAX1	O00165	SETDB1	Homo sapiens	Q15047-2	Y2H Pooling	32814053
Intra	HAX1	O00165	SETDB1	Homo sapiens	Q15047-2	Validated Y2H	32814053
Intra	HAX1	O00165	GRB7	Homo sapiens	Q14451	Y2H	20665473

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Neutropenia, Severe Congenital, 3, Autosomal Recessive	Kostmann Disease SCN3 Neutropenia, Severe Congenital 3, Autosomal Recessive Agranulocytosis Infantile Agranulocytosis, Infantile Severe Congenital Neutropenia Autosomal Recessive 3 Neutropenia, Severe Congenital, Autosomal Recessive 3 Kostmanns Syndrome Neutropenia, Congenital, Severe, Type 3, Autosomal Recessive Severe Congenital Neutropenia
Severe Congenital Neutropenia 3	Kostmann Syndrome Infantile Agranulocytosis Kostmann Disease Scn3 Severe Congenital Neutropenia Type 3
Neutropenia	Leukopenia
Severe Congenital Neutropenia	Congenital Neutropenia Neutropenia, Severe Congenital Congenital Agranulocytosis Infantile Genetic Agranulocytosis Kostmann Disease Kostmann'S Agranulocytosis Kostmann'S Syndrome Severe Infantile Genetic Neutropenia
Autosomal Recessive Severe Congenital Neutropenia
Polycystic Kidney Disease	Polycystic Kidney Diseases Pkd Polycystic Renal Disease Kidney Disease, Polycystic Polycystic Kidney, Autosomal Dominant
Autosomal Dominant Polycystic Kidney Disease	Polycystic Kidney Disease, Adult Type Adpkd Polycystic Kidney Diseases Polycystic Kidney, Autosomal Dominant Congenital Biliary Ectasias Polycystic Kidney And Hepatic Disease 1 Polycystic Kidney Disease, Autosomal Dominant Kidney, Polycystic, Disease, Autosomal Dominant Adult Polycystic Kidney Disease Polycystic Kidney, Adult Type Apckd - [Autosomal Polycystic Kidney Disease]
Severe Congenital Neutropenia 4	Autosomal Recessive Severe Congenital Neutropenia Due To G6pc3 Deficiency Scn4 Severe Congenital Neutropenia-Pulmonary Hypertension-Superficial Venous Angiectasis Syndrome Dursun Syndrome Severe Congenital Neutropenia Type 4
Neutropenia, Severe Congenital, X-Linked	X-Linked Severe Congenital Neutropenia XLN SCNX Severe Congenital Neutropenia X-Linked Neutropenia, Congenital, Severe, X-Linked
Severe Congenital Neutropenia 5	Congenital Neutropenia-Myelofibrosis-Nephromegaly Syndrome Congenital Neutropenia-Bone Marrow Fibrosis-Nephromegaly Syndrome Vps45 Deficiency Scn5
Severe Congenital Neutropenia 7	Autosomal Recessive Severe Congenital Neutropenia Due To Csf3r Deficiency Scn7
Cyclic Neutropenia	Cyclic Hematopoiesis Cyclical Neutropenia Neutropenia Cyclic Cyclic Hematopoesis Neutropenia, Cyclic Cyclic Agranulocytosis Neutropenia, Periodic Cyclic Leucopenia Periodic Neutropenia Cyclic Haematopoiesis CH Hematopoiesis, Cyclic Neutropenia, Cyclical
Whim Syndrome 1	Whim Syndrome Whims Warts, Hypogammaglobulinemia, Infections, And Myelokathexis WHIMS1 Warts-Hypogammaglobulinemia-Infections-Myelokathexis Syndrome Warts, Hypogammaglobulinemia, Infections, And Myelokathexis Syndrome 1 Myelokathexis, Isolated Wilm Warts-Infections-Leukopenia-Myelokatexis Syndrome Warts, Hypogammaglobulinemia, Infections And Myelokathexis Syndrome 1
Spinocerebellar Ataxia 13	Spinocerebellar Ataxia Type 13 SCA13 Autosomal Dominant Cerebellar Ataxia With Intellectual Disability Cerebellar Ataxia, Autosomal Dominant With Intellectual Disability Spinocerebellar Ataxia-13 Ataxia, Spinocerebellar, Type 13
Kidney Disease	Renal Failure Kidney Failure Kidney Diseases Nephropathy Abnormality Of The Kidney Impaired Renal Function Disease Renal Anomaly Kidney Dysfunction Renal Disease Nephropathies Renal Failure Adverse Event Abnormal Renal Function
3-Methylglutaconic Aciduria With Cataracts, Neurologic Involvement And Neutropenia	3-Methylglutaconic Aciduria Type 7 Mga7 3-Methylglutaconic Aciduria Type Vii Megcann Mgca7 3-Methylglutaconic Aciduria-Cataract-Neurologic Involvement-Neutropenia Syndrome 3-Methylglutaconic Aciduria With Cataracts, Neurologic Involvement, And Neutropenia
Poikiloderma With Neutropenia	Poikiloderma With Neutropenia, Clericuzio Type PN Clericuzio Type Poikiloderma With Neutropenia Poikiloderma With Neutropenia, Clericuzio-Type Clericuzio-Type Poikiloderma With Neutropenia Poikiloderma With Neutropenia Clericuzio Type Immune-Deficient Poikiloderma Clericuzio-Type Poikiloderma Neutropenia Syndrome Poikiloderma With Neutropenia Clericuzio-Type Poikiloderma, With Neutropenia
Cohen Syndrome	Pepper Syndrome COH1 Hypotonia, Obesity, And Prominent Incisors Coh Chs1, Formerly Norio Syndrome Obesity-Hypotonia Syndrome Prominent Incisors-Obesity-Hypotonia Syndrome Chs1 Hypotonia-Obesity-Prominent Incisors Stage 4s Neuroblastoma
Shwachman-Diamond Syndrome 1	Shwachman-Diamond Syndrome Shwachman Syndrome Shwachman-Bodian-Diamond Syndrome Sds Pancreatic Insufficiency And Bone Marrow Dysfunction Shwachman-Bodian Syndrome SDS1 Lipomatosis Of Pancreas, Congenital Congenital Lipomatosis Of Pancreas Shwachman-Diamond Type Metaphyseal Dysplasia Metaphyseal Chondrodysplasia, Shwachman Type Shwachman-Diamond-Oski Syndrome
Autosomal Dominant Severe Congenital Neutropenia	Severe Congenital Neutropenia Autosomal Dominant Neutropenia, Congenital, Severe, Autosomal Dominant
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Polycystic Kidney Disease 2 PKD2 Polycystic Kidney Disease, Adult, Type Ii Apkd2 Polycystic Kidney Disease, Type 2 Adpkd2 Adult Polycystic Kidney Disease Type 2 Autosomal Dominant Polycystic Kidney Disease 2 Pkd-2 Polycystic Kidney Disease Adult Type Ii Polycystic Kidney Type 2 Autosomal Dominant Disease Kidney Disease, Polycystic, Type 2
Dyskeratosis Congenita	Dyskeratosis Congenita Autosomal Dominant Dc Dkc Zinsser-Engman-Cole Syndrome Dyskeratosis Congenita, Autosomal Dominant Autosomal Dominant Dyskeratosis Congenita Dkca Dyskeratosis Congenita Scoggins Type Zinsser-Cole-Engman Syndrome X-Linked Dyskeratosis Congenita Hoyeraal-Hreidarsson Syndrome

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Nom du produit	Effect	Pureté	Rare Diseases
HY-RS06023	HAX1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS22196	Hax1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS28718	Hax1 Rat Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	HAX1	VGNC	VGNC:62761
Bos taurus	HAX1	VGNC	VGNC:29764
Rattus norvegicus	HAX1	RGD	RGD:727960
Macaca mulatta	HAX1	VGNC	VGNC:99965
Mus musculus	HAX1	MGD	MGI:1346319
Others	HAX1	NCBI