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

    Gene ID: 57143, updated on 2-May-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
    mouse all
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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 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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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