HAX1 - HCLS1 associated protein X-1 Gene

中文名称：HCLS1 相关蛋白 X-1

种属: Homo sapiens

同用名: SCN3; HS1BP1; HCLSBP1

基因 ID: 10456 | 基因类型: protein coding

关于 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.

功能概要

已知由该基因编码的蛋白质与造血细胞特异性 Lyn 底物 1 (Src 家族酪氨酸激酶的底物) 相关。它还与多囊肾病 2 基因的产物 (与常染色体显性多囊肾病相关的突变) 以及 F-肌动蛋白结合蛋白 cortactin 相互作用。早先认为该基因产物主要定位于线粒体中，然而，最近的研究表明它定位于细胞体中。该基因的突变会导致常染色体隐性遗传的严重先天性中性粒细胞减少症，也称为科斯特曼病。已发现该基因的两个转录本变体编码不同的亚型。[RefSeq 提供，2008 年 7 月]

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 基因产物(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

基因本体论

分子功能
生物过程
细胞组分

分子功能 GO 注释	逻辑证据	参考文献	来源
enables interleukin-1 binding	IDA IDA: 通过直接分析推断	11554782	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	11554782	GOA
enables signaling adaptor activity	IMP IMP: 通过突变表型推断	23001182	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in cellular response to cytokine stimulus	IMP IMP: 通过突变表型推断	23001182	GOA
involved in granulocyte colony-stimulating factor signaling pathway	IMP IMP: 通过突变表型推断	23001182	GOA
NOT involved in mitochondrion organization	IMP IMP: 通过突变表型推断	17008324	GOA
involved in negative regulation of apoptotic process	IMP IMP: 通过突变表型推断	17008324	GOA
involved in positive regulation of granulocyte differentiation	IMP IMP: 通过突变表型推断	23001182	GOA
involved in positive regulation of peptidyl-tyrosine phosphorylation	IMP IMP: 通过突变表型推断	23001182	GOA
involved in positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IMP IMP: 通过突变表型推断	23001182	GOA
involved in positive regulation of transcription by RNA polymerase II	IMP IMP: 通过突变表型推断	23001182	GOA
involved in regulation of actin filament organization	IMP IMP: 通过突变表型推断	23001182	GOA
involved in regulation of actin filament polymerization	IMP IMP: 通过突变表型推断	23001182	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in mitochondrial intermembrane space	IDA IDA: 通过直接分析推断	17008324	GOA
located in mitochondrial outer membrane	IDA IDA: 通过直接分析推断	17008324	GOA
located in mitochondrion	IDA IDA: 通过直接分析推断	9058808	GOA
part of transcription regulator complex	IDA IDA: 通过直接分析推断	23001182	GOA

EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

蛋白主名

其他名称

HCLS1-associated protein X-1

HAX-1

HAX1 蛋白互作信息

分类	蛋白名称	蛋白编号	互作蛋白	互作蛋白种属	互作蛋白编号	实验方法	参考文献
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

种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称

别名

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

疾病名称	别名
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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS06023	HAX1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 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

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