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ADCK1 aarF domain containing kinase 1 [ Homo sapiens (human) ]

Gene ID: 57143, updated on 3-Apr-2024

Summary

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Official Symbol
ADCK1provided by HGNC
Official Full Name
aarF domain containing kinase 1provided by HGNC
Primary source
HGNC:HGNC:19038
See related
Ensembl:ENSG00000063761 MIM:620399; AllianceGenome:HGNC:19038
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
MCP2
Summary
Predicted to enable ATP binding activity and protein serine/threonine kinase activity. Involved in negative regulation of mitochondrial fusion and positive regulation of cristae formation. Predicted to be located in extracellular region. Predicted to be active in mitochondrial inner membrane. Predicted to be integral component of mitochondrial membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in brain (RPKM 2.2), thyroid (RPKM 1.9) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
14q24.3
Exon count:
17
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (77800109..77935014)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (72009104..72144049)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (78266452..78401357)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene SRA stem-loop interacting RNA binding protein Neighboring gene SNW domain containing 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:78226689-78227463 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:78228238-78229012 Neighboring gene chromosome 14 open reading frame 178 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:78257054-78257970 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5979 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5980 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:78265777-78266315 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8813 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8812 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:78266316-78266854 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:78268449-78269288 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8814 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8815 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:78379195-78379710 Neighboring gene uncharacterized LOC105370581 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:78446972-78447490 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:78459957-78460576 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:78479894-78480577 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr14:78495292-78496095 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr14:78496096-78496898 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:78498735-78499236 Neighboring gene frataxin pseudogene 1

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. ADCK1 is a potential therapeutic target of osteosarcoma. Zhuo BB, et al. Cell Death Dis, 2022 Nov 12. PMID 36371387, Free PMC Article
  2. ADCK1 activates the β-catenin/TCF signaling pathway to promote the growth and migration of colon cancer cells. Ji Y, et al. Cell Death Dis, 2021 Apr 6. PMID 33824271, Free PMC Article
  3. Drosophila ADCK1 is critical for maintaining mitochondrial structures and functions in the muscle. Yoon W, et al. PLoS Genet, 2019 May. PMID 31125351, Free PMC Article
  4. The protein kinase complement of the human genome. Manning G, et al. Science, 2002 Dec 6. PMID 12471243
  5. Genome-wide association study of peripheral neuropathy with D-drug-containing regimens in AIDS Clinical Trials Group protocol 384. Leger PD, et al. J Neurovirol, 2014 Jun. PMID 24554482, Free PMC Article

See all (23) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. ADCK1 is a potential therapeutic target of osteosarcoma.
    Title: ADCK1 is a potential therapeutic target of osteosarcoma.
  2. ADCK1 activates the beta-catenin/TCF signaling pathway to promote the growth and migration of colon cancer cells.
    Title: ADCK1 activates the β-catenin/TCF signaling pathway to promote the growth and migration of colon cancer cells.
  3. Observational study of gene-disease association. (HuGE Navigator)
    Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide association study of peripheral neuropathy with D-drug-containing regimens in AIDS Clinical Trials Group protocol 384.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ39600

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ATP binding IEA
Inferred from Electronic Annotation
more info
  
enables protein serine/threonine kinase activity IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in lipid homeostasis IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in mitochondrion organization IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in negative regulation of mitochondrial fusion IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in phosphorylation IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of cristae formation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
is_active_in mitochondrial inner membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in mitochondrion IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
aarF domain-containing protein kinase 1

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_001142545.2 → NP_001136017.1  aarF domain-containing protein kinase 1 isoform b

    See identical proteins and their annotated locations for NP_001136017.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon, compared to variant 1, resulting in a shorter protein (isoform b), compared to isoform a.
    Source sequence(s)
    AC008372, AI866496, AK096919, BC017459, CD630155, DN996748
    Consensus CDS
    CCDS45144.1
    UniProtKB/Swiss-Prot
    B3KUD5, Q6PD65, Q86TW2, Q9UIE6
    Related
    ENSP00000339663.5, ENST00000341211.5
    Conserved Domains (1) summary
    cd13969
    Location:69 → 301
    ADCK1-like; aarF domain containing kinase 1 and similar proteins

  2. NM_001366485.2 → NP_001353414.1  aarF domain-containing protein kinase 1 isoform c

    Status: VALIDATED

    Source sequence(s)
    AC008372
    UniProtKB/Swiss-Prot
    B3KUD5, Q6PD65, Q86TW2, Q9UIE6
    Conserved Domains (1) summary
    cd13969
    Location:117 → 330
    ADCK1-like; aarF domain containing kinase 1 and similar proteins

  3. NM_001366486.2 → NP_001353415.1  aarF domain-containing protein kinase 1 isoform d

    Status: VALIDATED

    Source sequence(s)
    AC008372
    UniProtKB/Swiss-Prot
    B3KUD5, Q6PD65, Q86TW2, Q9UIE6
    Conserved Domains (1) summary
    cd13969
    Location:117 → 338
    ADCK1-like; aarF domain containing kinase 1 and similar proteins

  4. NM_001366487.2 → NP_001353416.1  aarF domain-containing protein kinase 1 isoform e

    Status: VALIDATED

    Source sequence(s)
    AC008372
    UniProtKB/Swiss-Prot
    B3KUD5, Q6PD65, Q86TW2, Q9UIE6
    Conserved Domains (1) summary
    cd13969
    Location:117 → 426
    ADCK1-like; aarF domain containing kinase 1 and similar proteins

  5. NM_001366488.2 → NP_001353417.1  aarF domain-containing protein kinase 1 isoform f

    Status: VALIDATED

    Source sequence(s)
    AC008372
    Conserved Domains (1) summary
    cd13969
    Location:117 → 299
    ADCK1-like; aarF domain containing kinase 1 and similar proteins

  6. NM_001366489.2 → NP_001353418.1  aarF domain-containing protein kinase 1 isoform g

    Status: VALIDATED

    Source sequence(s)
    AC008372
    UniProtKB/Swiss-Prot
    B3KUD5, Q6PD65, Q86TW2, Q9UIE6
    Conserved Domains (1) summary
    cd13969
    Location:117 → 316
    ADCK1-like; aarF domain containing kinase 1 and similar proteins

  7. NM_001366490.2 → NP_001353419.1  aarF domain-containing protein kinase 1 isoform h

    Status: VALIDATED

    Source sequence(s)
    AC008372
    Conserved Domains (1) summary
    cd13969
    Location:1 → 243
    ADCK1-like; aarF domain containing kinase 1 and similar proteins

  8. NM_020421.4 → NP_065154.2  aarF domain-containing protein kinase 1 isoform a

    See identical proteins and their annotated locations for NP_065154.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
    Source sequence(s)
    AC008372, AI866496, BC058906, CD630155
    Consensus CDS
    CCDS9869.1
    UniProtKB/Swiss-Prot
    B3KUD5, Q6PD65, Q86TW2, Q9UIE6
    Related
    ENSP00000238561.5, ENST00000238561.10
    Conserved Domains (1) summary
    cd13969
    Location:117 → 369
    ADCK1-like; aarF domain containing kinase 1 and similar proteins

RNA

  1. NR_158987.2 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC008372

  2. NR_158988.2 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC008372

  3. NR_158989.2 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC008372

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p14 Primary Assembly

    Range
    77800109..77935014
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047431611.1 → XP_047287567.1  aarF domain-containing protein kinase 1 isoform X2

  2. XM_047431610.1 → XP_047287566.1  aarF domain-containing protein kinase 1 isoform X1

  3. XM_017021477.2 → XP_016876966.1  aarF domain-containing protein kinase 1 isoform X2

    Conserved Domains (1) summary
    cd13969
    Location:1 → 243
    ADCK1-like; aarF domain containing kinase 1 and similar proteins

  4. XM_011536985.2 → XP_011535287.1  aarF domain-containing protein kinase 1 isoform X3

    Conserved Domains (2) summary
    cl28017
    Location:136 → 226
    Herpes_UL37_1; Herpesvirus UL37 tegument protein
    cl21453
    Location:16 → 142
    PKc_like; Protein Kinases, catalytic domain

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060938.1 Alternate T2T-CHM13v2.0

    Range
    72009104..72144049
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054376435.1 → XP_054232410.1  aarF domain-containing protein kinase 1 isoform X2

  2. XM_054376434.1 → XP_054232409.1  aarF domain-containing protein kinase 1 isoform X1

  3. XM_054376436.1 → XP_054232411.1  aarF domain-containing protein kinase 1 isoform X2

  4. XM_054376437.1 → XP_054232412.1  aarF domain-containing protein kinase 1 isoform X3

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q86TW2.2 GenPept UniProtKB/Swiss-Prot:Q86TW2

Gene LinkOut

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