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  2. ALPK1 - alpha kinase 1 Gene

ALPK1 - alpha kinase 1 Gene

中文名称:α激酶 1

种属: Homo sapiens

同用名: LAK; ROSAH; 8430410J10Rik

基因 ID: 80216 | 基因类型: protein coding

关于 ALPK1

Cytogenetic location: 4q25 Genomic coordinates (GRCh38): 4:112,297,369-112,442,621 (from NCBI)

This gene has 19 transcripts (splice variants), 189 orthologues, 4 paralogues and is associated with 3 phenotypes. Ubiquitous expression in bone marrow (RPKM 3.8), skin (RPKM 2.4) and 24 other tissues.

功能概要

该基因编码一种α激酶。对于该基因的破坏拷贝纯合的小鼠表现出协调缺陷 (PMID:21208416) 。已发现该基因编码不同异构体的多个转录变体。[RefSeq 提供,2011 年 12 月]

This gene encodes an alpha kinase. Mice which were homozygous for disrupted copies of this gene exhibited coordination defects (PMID: 21208416). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]

ALPK1 基因产物(3)

mRNA Protein Name
NM_001102406.2 NP_001095876.1 alpha-protein kinase 1 isoform 1
NM_001253884.2 NP_001240813.1 alpha-protein kinase 1 isoform 2
NM_025144.4 NP_079420.3 alpha-protein kinase 1 isoform 1

ALPK1 蛋白结构

Alpha_kinase

Alpha_kinase: Alpha-kinase family (1042 - 1229)

  • 0
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  • 1000
  • 1244 a.a.
蛋白主名 其他名称

alpha-protein kinase 1

chromosome 4 kinase

关联疾病

疾病名称 别名
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome

Optic Nerve Edema-Splenomegaly Syndrome

ROSAH

Splenomegaly, Cytopenia, And Vision Loss

Rosah Syndrome

Retinal Dystrophy-Optic Nerve Edema-Splenomegaly-Anhidrosis-Migraine Headache Syndrome

Anhidrosis

Hypohidrosis

Absence Of Sweating

Adiaphoresis

Impaired Sweating

Oligohidrosis

Spiradenoma

Eccrine Spiradenoma

Benign Eccrine Spiradenoma

Eccrine Spiradenoma Of Skin

Es

Eccrine Spiradenoma, Benign

Splenomegaly
Advanced Sleep Phase Syndrome, Familial, 2

Advanced Sleep Phase Syndrome 2

FASPS2

Advanced Sleep-Phase Syndrome, Familial, 2

Familial Advanced Sleep Phase Syndrome 2

Sleep Phase Syndrome, Advanced, Familial, Type 2

Anus Basaloid Carcinoma

Basaloid Carcinoma Of The Anus

Anal Basaloid Carcinoma

Apocrine Sweat Gland Neoplasm

Apocrine Tumor

Apocrine Neoplasm

Gout

Gouty Arthritis

Articular Gout

Gouty Arthropathy

Arthritis, Gouty

Arthritis Gouty

Idiopathic Gout

Idiopathic Gout, Unspecified Site

Gouty Bursitis

Uratic Arthritis

Gout Nos

Gouty

Gouty Diathesis

Brain Small Vessel Disease 1

Col4a1-Related Brain Small Vessel Disease With Hemorrhage

Col4a1-Related Familial Vascular Leukoencephalopathy

Col4a1-Related Retinal Arteriolar Tortuosity-Infantile Hemiparesis-Autosomal Dominant Leukoencephalopathy Syndrome

Autosomal Dominant Retinal Arteriolar Tortuosity, Infantile Hemiparesis, And Leukencephalopathy

Brain Small Vessel Disease With Axenfeld-Riegar Anomaly

Brain Small Vessel Disease With Hemorrhage

Brain Small Vessel Disease With Or Without Ocular Anomalies

Bsvd1

Infantile Hemiparesis

Leukoencephalopathy With Axenfeld-Riegar Anomaly

Salivary Gland Adenoid Cystic Carcinoma

Cylindroma

Migraine, Familial Hemiplegic, 1

FHM1

Mhp1

Fhm

Familial Hemiplegic Migraine 1

Migraine, Familial Hemiplegic, 1, With Progressive Cerebellar Ataxia

Familial Hemiplegic Migraine1 With Progressive Cerebellar Ataxia

Migraine Familial Hemiplegic With Progressive Cerebellar Ataxia

Migraine, Hemiplegic, Familial, Type 1

Hemiplegic Migraine, Familial Type 1

Brooke-Spiegler Syndrome

Cyld Cutaneous Syndrome

Spiegler-Brooke Syndrome

Familial Cylindromatosis

BRSS

Bss

Sbs

Multiple Familial Trichoepithelioma

Ancell-Spiegler Cylindromas

Familial Multiple Trichoepithelioma

Trichoepithelioma

Fc

Mft

Multiple Familial Trichoepitheliomas

Ccs

Turban Tumor Syndrome

Schilbach-Rott Syndrome

Eccrine Dermal Cylindroma

Familial Multiple Trichoepitheliomata

Retinal Arteries, Tortuosity Of

Retinal Arterial Tortuosity

Retinal Hemorrhage With Vascular Tortuosity

RATOR

Tortuosity Of Retinal Arteries

Retinal Arteriolar Tortuosity

Familial Isolated Retinal Arterial Tortuosity

Tortuosity, Arteries, Retinal

Pancytopenia
Alcohol Dependence

Alcoholism

Alcohol Dependence, Susceptibility To

Alcohol Dependence, Protection Against

Aerodigestive Tract Cancer, Squamous Cell, Alcohol-Related, Protection Against

Alcoholism, Susceptibility To

Alcoholic Intoxication, Chronic

Pharyngeal Neoplasms

Chronic Alcoholism

Dipsomania

Alcohol Addiction

Ethanol Dependence

Chronic Ethanolism

Chronic Alcoholic Disease Nos

Alcoholic Disease Nos

Alcoholic

Inflammatory Bowel Disease

Inflammatory Bowel Diseases

Bowel Disease, Inflammatory

Fundus Dystrophy

Retinal Dystrophy

Retinal Dystrophies

Dystrophy, Retinal

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

直系同源

种属 基因名 来源 基因 ID
Felis catus ALPK1 VGNC VGNC:59759
Rattus norvegicus ALPK1 RGD RGD:1304613
Mus musculus ALPK1 MGD MGI:1918731
Macaca mulatta ALPK1 VGNC VGNC:69656
Bos taurus ALPK1 VGNC VGNC:25847
Canis familiaris ALPK1 VGNC VGNC:37815