ANK1 - ankyrin 1 Gene

中文名称：锚蛋白 1

种属: Homo sapiens

同用名: ANK; SPH1; SPH2; ankyrin-1

基因 ID: 286 | 基因类型: protein coding

关于 ANK1

Cytogenetic location: 8p11.21 Genomic coordinates (GRCh38): 8:41,653,225-41,896,741 (from NCBI)

This gene has 16 transcripts (splice variants), 323 orthologues, 3 paralogues and is associated with 90 phenotypes. Biased expression in bone marrow (RPKM 23.4) and heart (RPKM 5.1).

功能概要

锚蛋白是一个蛋白质家族，它将完整的膜蛋白连接到底层的血影蛋白-肌动蛋白细胞骨架，并在细胞运动、激活、增殖、接触和维持专门的膜结构域等活动中发挥关键作用。对各种靶蛋白具有不同亲和力的锚蛋白的多种亚型以组织特异性、发育调节的方式表达。大多数锚蛋白通常由三个结构域组成：包含多个锚蛋白重复序列的氨基末端域；具有高度保守的血影蛋白结合域的中心区域；和一个羧基末端调节结构域，它是最不保守的并且容易发生变异。 Ankyrin 1 是该家族的原型，最初是在红细胞中发现的，后来也在大脑和肌肉中被发现。红细胞锚蛋白 1 的突变与大约一半的遗传性球形红细胞增多症患者有关。已经描述了调节域中可变剪接的复杂模式，从而产生不同的锚蛋白 1 亚型。还鉴定了因使用替代启动子而产生的锚蛋白 1 的截短肌肉特异性亚型。[RefSeq 提供，2008 年 12 月]

Ankyrins are a family of proteins that link the integral membrane proteins to the underlying spectrin-actin Cytoskeleton and play key roles in activities such as cell motility, activation, proliferation, contact and the maintenance of specialized membrane domains. Multiple isoforms of ankyrin with different affinities for various target proteins are expressed in a tissue-specific, developmentally regulated manner. Most ankyrins are typically composed of three structural domains: an amino-terminal domain containing multiple ankyrin repeats; a central region with a highly conserved spectrin binding domain; and a carboxy-terminal regulatory domain which is the least conserved and subject to variation. Ankyrin 1, the prototype of this family, was first discovered in the erythrocytes, but since has also been found in brain and muscles. Mutations in erythrocytic ankyrin 1 have been associated in approximately half of all patients with hereditary spherocytosis. Complex patterns of alternative splicing in the regulatory domain, giving rise to different isoforms of ankyrin 1 have been described. Truncated muscle-specific isoforms of ankyrin 1 resulting from usage of an alternate promoter have also been identified. [provided by RefSeq, Dec 2008]

ANK1 基因产物(8)

mRNA	Protein	Name
NM_000037.4	NP_000028.3	ankyrin-1 isoform 3
NM_001142445.2	NP_001135917.1	ankyrin-1 isoform 10 precursor
NM_001142446.2	NP_001135918.1	ankyrin-1 isoform 9
NM_020475.3	NP_065208.2	ankyrin-1 isoform 4
NM_020476.3	NP_065209.2	ankyrin-1 isoform 1
NM_020477.3	NP_065210.2	ankyrin-1 isoform 2
NM_020478.5	NP_065211.2	ankyrin-1 isoform 5 precursor
NM_020480.5	NP_065213.2	ankyrin-1 isoform 7 precursor

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 ATPase binding	IPI IPI: 通过物理相互作用推断	8159688	GOA
enables cytoskeletal anchor activity	IDA IDA: 通过直接分析推断	379653	GOA
enables enzyme binding	IPI IPI: 通过物理相互作用推断	21177872	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	379653	GOA
enables protein phosphatase binding	IPI IPI: 通过物理相互作用推断	12354383	GOA
enables spectrin binding	IDA IDA: 通过直接分析推断	379653	GOA
enables spectrin binding	IPI IPI: 通过物理相互作用推断	8159688	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in endoplasmic reticulum to Golgi vesicle-mediated transport	IDA IDA: 通过直接分析推断	18768923	GOA
involved in protein localization to plasma membrane	IMP IMP: 通过突变表型推断	18768923	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
part of ankyrin-1 complex	IDA IDA: 通过直接分析推断	35835865	GOA
located in cytoplasmic side of plasma membrane	IDA IDA: 通过直接分析推断	12354383	GOA
located in plasma membrane	IDA IDA: 通过直接分析推断	379653	GOA
located in spectrin-associated cytoskeleton	IDA IDA: 通过直接分析推断	379653	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

ANK1 蛋白结构

Ank_2

Ank

Ank_4

Ank_2

Ank

Ank_2

Ank

Ank_2

ZU5

Death

0
300
600
900
1200
1500
1881 a.a.

蛋白主名

其他名称

ankyrin-1

ANK-1

关联疾病

疾病名称

别名

Spherocytosis, Type 1

Hereditary Spherocytosis Type 1	SPH1
Hs1	Spherocytosis, Hereditary, 1
Sph	Hs
Hereditary Spherocytosis 1	Spherocytosis 1

Hereditary Spherocytosis

Congenital Spherocytic Hemolytic Anemia	Spherocytic Anemia
Congenital Spherocytosis	Spherocytosis, Type 1
Minkowski Chauffard Syndrome	Hs
Minkowski-Chauffard Disease	Minkowski-Chauffard Syndrome
Spherocytosis Hereditary	Spherocytosis, Hereditary
Anemia, Hereditary Spherocytic Hemolytic

8p11.2 Deletion Syndrome

Del(8)(P11.2)

Monosomy 8p11.2

Hemolytic Anemia

Anemia, Hemolytic	Anemia Hemolytic
Anaemia Due To Other Disorders Of Glutathione Metabolism	Chronic Non Spherocytic Anaemia
G6pd - [Glucose-6-Phosphate Dehydrogenase Deficiency] Anaemia	Anaemia Due To Glucose-6-Phosphate Dehydrogenase Deficiency
Glucose-6-Phosphate Dehydrogenase Deficiency With Anaemia	Glucose-6-Phosphate Dehydrogenase Deficiency Anaemia
Favism Anaemia	Haemolytic Anaemia Due Tog6pd Deficiency
Favism	Pentose Phosphate Pathway Disorder Anaemia
Anaemia Due To Pentose Phosphate Pathway Defect

Hereditary Elliptocytosis

Congenital Elliptocytosis	Ovalocytosis
Elliptocytosis, Hereditary	He
Elliptocytosis Hereditary	Congenital Ovalocytosis
Elliptocytosis	Hereditary Elliptocytosis With Infantile Poikilocytosis
Hereditary Ovalocytosis	Oval Erythrocytosis
He - [Hereditary Elliptocytosis]	Elliptocytosis Anaemia

Human Granulocytic Anaplasmosis

Human Granulocytic Ehrlichiosis	Hge
Human Ehrlichial Infection, Human Granulocytic Type	Human Anaplasmosis Due To Anaplasma Phagocytophilum

Ehrlichiosis

Human Ehrlichiosis	He
Hey

Viral Laryngitis

Familial Episodic Pain Syndrome

Feps

Anemia, Congenital Dyserythropoietic, Type Ia

Congenital Dyserythropoietic Anemia Type I	Cda I
CDAN1A	Congenital Dyserythropoietic Anemia Type 1
Congenital Dyserythropoietic Anemia Type Ia	Congenital Dyserythropoietic Anemia, Type I
Anemia, Congenital Dyserythropoietic, Type I	Cda Type 1
Cda Type I	Cda Ia
Dyserythropoietic Anemia, Congenital Type 1	Anemia, Congenital Dyserythropoietic, Type 1a
Dyserythropoietic Anemia, Congenital, Type Ia	Cda, Type Ia
Congenital Dyserythropoietic Anaemia Type 1	Congenital Dyserythropoietic Anaemia Type I
Anemia, Dyserythropoietic, Congenital Type 1	Type I Congenital Dyserythropoietic Anemia
Anemia, Congenital Dyserythropoietic, 1a	Anemia, Dyserythropoietic, Congenital, Type Ia

Spinocerebellar Ataxia 5

Spinocerebellar Ataxia Type 5	SCA5
Spinocerebellar Ataxia-5	Ataxia, Spinocerebellar, Type 5

Congenital Hemolytic Anemia

Anemia Hemolytic Congenital	Anemia, Hemolytic, Congenital
Congenital Hemolytic Anaemia	Hereditary Hemolytic Anaemia
Hereditary Hemolytic Anemia

Kallmann Syndrome

Hypogonadism With Anosmia	Kallman'S Syndrome
Anosmic Hypogonadism	Anosmic Idiopathic Hypogonadotropic Hypogonadism
Hypogonadotropic Hypogonadism And Anosmia	Hypogonadotropic Hypogonadism-Anosmia Syndrome
Olfacto-Genital Pathological Sequence	Familial Hypogonadism With Anosmia
Kallman Syndrome	Dysplasia Olfactogenitalis Of De Morsier
Kallmann'S Syndrome	Congenital Hypogonadotropic Hypogonadism With Anosmia

Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema

Dehydrated Hereditary Stomatocytosis	Hereditary Xerocytosis
Xerocytosis, Hereditary	Pshk1
Pseudohyperkalemia Edinburgh	Dehydrated Hereditary Stomatocytosis With Or Without Pseudohyperkalemia And/Or Perinatal Edema
DHS1	Dhs
Hereditary Desiccytosis	Dehydrated Hereditary Stomatocytosis 1
Desiccytosis, Hereditary	Pseudohyperkalemia, Familial, 1, Due To Red Cell Leak
Pseudohyperkalemia Familial 1, Due To Red Cell Leak	Desiccytosis Hereditary
Xerocytosis Hereditary	Familial Pseudohyperkalemia 1 Due To Red Cell Leak
Stomatocytosis, Dehydrated, Hereditary, With/Without Pseudohyperkalemia And/Or Perinatal Edema	Xerocytosis

Malaria

Malaria, Susceptibility To	Malaria, Resistance To
Malaria, Cerebral	Cerebral Malaria
Malaria, Severe, Susceptibility To	Malaria, Severe, Resistance To
Malaria, Cerebral, Susceptibility To	Induced Malaria
Malaria, Vivax, Protection Against	Malaria, Severe
Malaria, Cerebral, Reduced Risk Of	Malaria, Protection Against
Resistance To Malaria Due To G6pd Deficiency	Malaria Due To G6pd Deficiency
Malarial Encephalitis	CM
Malaria Cerebral	Susceptibility To Malaria
Acute Pernicious Fever	Aestivo-Autumnal Fever
Aestivo Autumnal Malaria	Chagres Fever
Continued Malaria Fever	Estivo-Autumnal Fever
Estivo-Autumnal Malaria	Estivo-Autumnal Malarial Fever
Falciparum Fever	Malignant Tertian Fever
Malignant Tertian Malaria	Pernicious Intermittent Fever
Pernicious Malaria	Quotidian Malaria
Subtertian Fever	Subtertian Malaria Fever
Subtertian Malignant Tertian Malaria	Tropical Malaria
Algid Malaria	Bilious Haemoglobinuric Fever
Black Water Fever	Blackwater Fever
Malarial Blackwater Fever	Severe Malarial Falciparum
West African Fever	Malarial Haematinuria
Haemoglobinuric Fever	Haemoglobinuric Malaria
Severe Plasmodium Falciparum Malaria	Malarial Haemoglobinuria
Malarial Haematuria	Falciparum Malaria [Malignant Tertian]
Malaria Tropica	Malarial Shock
Chagres Virus Disease	Malignant Malaria
Mtm - [Malignant Tertian Malaria]	Tm -[Malignant Tertian Malaria]
Panama Fever	St - [Subtertian Malaria]
Malarial Quotidian	Benign Tertian Malaria
Tertian Ague	Vivax Fever
Plasmodium Vivax Malaria Nos	Btm - [Benign Tertian Malaria]
Bt - [Benign Tertian Malaria]	Vivax Malaria
Benign Tertian Vivax Malaria	Tertian Malaria
Quartan Malaria	Quartan Ague
Quartan Fever	Plasmodium Malariae Malaria Nos
Quartan Malarial	Malaria By Plasmodium Malariae
Malariae Malaria	Ovale Tertian Malaria
Plasmodium Ovale Fever	Malaria Fever By Plasmodium Ovale
Ovale Malaria	Malaria By Plasmodium Ovale
Malarial Ovale	Marsh Fever
Remittent Congestive Fever	Coastal Fever
Remittent Gastric Fever	Miasmatic Fever
Congestive Remittent Fever	Intermittent Fever
Jungle Fever	Paludism
Cameroon Fever	Ague
Corsican Fever	Intermittent Bilious Fever
Disease Due To Plasmodiidae	Malarial Fever
Plasmodiosis	Remittent Fever
Roman Fever	Malaria Fever Nos
Malaria Nos	Paludal Fever
Clinically Diagnosed Malaria	Clinically Diagnosed Malaria Without Parasitological Confirmation
Congestive Fever	Malarial Cachexia
Marsh Cachexia	Paludal Cachexia
Recurrent Malaria	Remittent Malaria

Migraine With Or Without Aura 1

Migraine	Migraine With Or Without Aura, Susceptibility To, 1
Migraine Disorder	Migraine Variant
Migraines	Migraine Disorders
Mgr1	Mgau
Ma	Migraine With Or Without Aura
Classic Migraine	Common Migraine
Disorder, Migraine	Headache Migraine
Headache Migrainous	Migraine Headache
Migraine Syndrome	Headache Including Migraine
Migraine, Susceptibility To

Brugada Syndrome

Sudden Unexpected Nocturnal Death Syndrome	Sudden Unexplained Nocturnal Death Syndrome
Bangungut	Brugada Type Idiopathic Ventricular Fibrillation
Pokkuri Death Syndrome	Sunds
Idiopathic Ventricular Fibrillation, Brugada Type	Sudden Unexplained Death
Dream Disease	Right Bundle Branch Block, St Segment Elevation, And Sudden Death Syndrome
Sudden Unexplained Death Syndrome	Suds
Sunds - [Sudden Unexplained Nocturnal Death 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-RS00699	ANK1 Human Pre-designed siRNA Set A	Pre-designed Set	/	否
HY-RS00735	ANKS1A Human Pre-designed siRNA Set A	Pre-designed Set	/	否
HY-RS00736	ANKS1B Human Pre-designed siRNA Set A	Pre-designed Set	/	否

直系同源

种属	基因名	来源	基因 ID
Felis catus	ANK1	VGNC	VGNC:67578
Mus musculus	ANK1	MGD	MGI:88024
Macaca mulatta	ANK1	VGNC	VGNC:83980
Canis familiaris	ANK1	VGNC	VGNC:37866
Rattus norvegicus	ANK1	RGD	RGD:1309620
Others	ANK1	NCBI

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