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ALPK1 alpha kinase 1 [ Homo sapiens (human) ]

Gene ID: 80216, updated on 5-Sep-2021

Summary

Official Symbol
ALPK1provided by HGNC
Official Full Name
alpha kinase 1provided by HGNC
Primary source
HGNC:HGNC:20917
See related
Ensembl:ENSG00000073331 MIM:607347
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
LAK; ROSAH; 8430410J10Rik
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]
Expression
Ubiquitous expression in bone marrow (RPKM 3.8), skin (RPKM 2.4) and 24 other tissues See more
Orthologs
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Genomic context

See ALPK1 in Genome Data Viewer
Location:
4q25
Exon count:
16
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 4 NC_000004.12 (112297369..112442621)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (113218525..113363777)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene adaptor related protein complex 1 associated regulatory protein Neighboring gene Sharpr-MPRA regulatory region 9995 Neighboring gene TRAF interacting protein with forkhead associated domain Neighboring gene regulator of telomere elongation helicase 1 pseudogene 1 Neighboring gene uncharacterized LOC107986304 Neighboring gene TOX high mobility group box family member 4 pseudogene 1

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
A genome-wide association meta-analysis identifies new childhood obesity loci.
GeneReviews: Not available
Genome-wide association study of epirubicin-induced leukopenia in Japanese patients.
GeneReviews: Not available
Splenomegaly, cytopenia, and vision loss
MedGen: C3554278 OMIM: 614979 GeneReviews: Not available
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Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ22670, KIAA1527

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ATP binding IEA
Inferred from Electronic Annotation
more info
 
enables monosaccharide binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein serine kinase activity IEA
Inferred from Electronic Annotation
more info
 
enables protein serine/threonine kinase activity EXP
Inferred from Experiment
more info
PubMed 
enables protein serine/threonine kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
located_in centrosome IDA
Inferred from Direct Assay
more info
PubMed 
located_in cilium IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytosol IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytosol TAS
Traceable Author Statement
more info
 
located_in spindle pole IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
alpha-protein kinase 1
Names
chromosome 4 kinase
lymphocyte alpha-kinase
lymphocyte alpha-protein kinase
NP_001095876.1
NP_001240813.1
NP_079420.3

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001102406.2NP_001095876.1  alpha-protein kinase 1 isoform 1

    See identical proteins and their annotated locations for NP_001095876.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 5' coding region compared to variant 1. Variants 1 and 2 encode the same protein (isoform 1).
    Source sequence(s)
    AC004049, AK026715, AY044164, BC060780, BE155590, DB250317
    Consensus CDS
    CCDS3697.1
    UniProtKB/Swiss-Prot
    Q96QP1
    Related
    ENSP00000177648.9, ENST00000177648.13
    Conserved Domains (1) summary
    smart00811
    Location:10211229
    Alpha_kinase; Alpha-kinase family
  2. NM_001253884.2NP_001240813.1  alpha-protein kinase 1 isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) lacks an alternate in-frame exon in the 5' coding region compared to variant 1. The resulting protein (isoform 2) is shorter compared to isoform 1.
    Source sequence(s)
    AC004049, AK026715, AK304708
    Consensus CDS
    CCDS58923.1
    UniProtKB/Swiss-Prot
    Q96QP1
    Related
    ENSP00000426044.2, ENST00000504176.6
    Conserved Domains (1) summary
    smart00811
    Location:9431151
    Alpha_kinase; Alpha-kinase family
  3. NM_025144.4NP_079420.3  alpha-protein kinase 1 isoform 1

    See identical proteins and their annotated locations for NP_079420.3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript. Variants 1 and 2 encode the same protein (isoform 1).
    Source sequence(s)
    AC004049, AK026715, AY044164, BC060780, BE155590, DB250317
    Consensus CDS
    CCDS3697.1
    UniProtKB/Swiss-Prot
    Q96QP1
    Related
    ENSP00000498374.1, ENST00000650871.1
    Conserved Domains (1) summary
    smart00811
    Location:10211229
    Alpha_kinase; Alpha-kinase family

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p13 Primary Assembly

    Range
    112297369..112442621
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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