ALPK1 - alpha kinase 1 Gene

Also Known as LAK; ROSAH; 8430410J10Rik

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 80216

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 References 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 References 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 References 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

Alpha_kinase: Alpha-kinase family (1042 - 1229)

  • 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

Pre-clinical Phase

Bioactive Molecules (3)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS00629 ALPK1 Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS17500 Alpk1 Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS23957 Alpk1 Rat Pre-designed siRNA Set A Pre-designed Set / 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
Others ALPK1 NCBI