ALPK1 - alpha kinase 1 Gene

Homo sapiens

Also known as LAK; ROSAH; 8430410J10Rik

Gene ID: 80216 | Gene type: protein coding

About 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.

Summary

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 Products(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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables monosaccharide binding	IPI IPI: Inferred from physical interaction	30111836	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	30111836	GOA
enables protein serine/threonine kinase activity	EXP EXP: Inferred from Experiment	30111836	GOA
enables protein serine/threonine kinase activity	IDA IDA: Inferred from direct assay	30111836	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in cilium assembly	IMP IMP: Inferred from mutant phenotype	30967659	GOA
involved in cytoplasmic pattern recognition receptor signaling pathway	IDA IDA: Inferred from direct assay	28222186	GOA
involved in innate immune response	IDA IDA: Inferred from direct assay	28222186	GOA
involved in positive regulation of canonical NF-kappaB signal transduction	IDA IDA: Inferred from direct assay	28222186	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in centrosome	IDA IDA: Inferred from direct assay	30967659	GOA
located in cilium	IDA IDA: Inferred from direct assay	30967659	GOA
located in cytosol	IDA IDA: Inferred from direct assay	30111836	GOA
located in spindle pole	IDA IDA: Inferred from direct assay	30967659	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

ALPK1 Protein Structure

Alpha_kinase

0
200
400
600
800
1000
1244 a.a.

Protein Preferred Names

Protein Names

alpha-protein kinase 1

chromosome 4 kinase

Related Diseases

Diseases

Alias

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

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

Bioactive Molecules (4)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-147562	ALPK1-IN-2	Inhibitor	98.43%	Unkown
HY-156519	ALPK1-IN-3	Inhibitor	99.19%	Unkown
HY-147561	ALPK1-IN-1	Inhibitor	99.14%	Unkown
HY-RS00629	ALPK1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	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

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