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AK3 adenylate kinase 3 [ Homo sapiens (human) ]

Gene ID: 50808, updated on 7-Apr-2024

Summary

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Official Symbol
AK3provided by HGNC
Official Full Name
adenylate kinase 3provided by HGNC
Primary source
HGNC:HGNC:17376
See related
Ensembl:ENSG00000147853 MIM:609290; AllianceGenome:HGNC:17376
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
AK6; FIX; AK3L1; AKL3L; AKL3L1
Summary
The protein encoded by this gene is a GTP:ATP phosphotransferase that is found in the mitochondrial matrix. Several transcript variants encoding a few different isoforms have been found for this gene. [provided by RefSeq, Dec 2010]
Expression
Ubiquitous expression in liver (RPKM 32.7), fat (RPKM 26.9) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
9p24.1
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (4709556..4742043, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (4713232..4747171, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (4709556..4742043, complement)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene CDC37L1 divergent transcript Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28148 Neighboring gene cell division cycle 37 like 1, HSP90 cochaperone Neighboring gene uncharacterized LOC124902112 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19746 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19747 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:4762929-4763867 Neighboring gene extracellular matrix protein 1 pseudogene 1 Neighboring gene RPS5 pseudogene 6

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. Adenylate Kinase Isozyme 3 Regulates Mitochondrial Energy Metabolism and Knockout Alters HeLa Cell Metabolism. Fujisawa K, et al. Int J Mol Sci, 2022 Apr 13. PMID 35457131, Free PMC Article
  2. Candidate predisposing germline copy number variants in early onset colorectal cancer patients. Brea-Fernandez AJ, et al. Clin Transl Oncol, 2017 May. PMID 27888432
  3. Mitochondrial GTP-AMP phosphotransferase. 2. Kinetic and equilibrium dialysis studies. Tomasselli AG, et al. Eur J Biochem, 1979 Jan 15. PMID 218813
  4. Evidence for the assignment of the loci AK1, AK3 and ACONs to chromosome 9 in man. Povey S, et al. Ann Hum Genet, 1976 May. PMID 182062
  5. Cloning and functional characterization of the promoter region of the gene encoding human adenylate kinase isozyme 3. Noma T, et al. Biochem Biophys Res Commun, 1999 Nov 2. PMID 10544043

See all (40) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Adenylate Kinase Isozyme 3 Regulates Mitochondrial Energy Metabolism and Knockout Alters HeLa Cell Metabolism.
    Title: Adenylate Kinase Isozyme 3 Regulates Mitochondrial Energy Metabolism and Knockout Alters HeLa Cell Metabolism.
  2. These findings suggest that AK3 and SLIT2 may be potential candidates involved in genetic susceptibility to colorectal cancer
    Title: Candidate predisposing germline copy number variants in early onset colorectal cancer patients.
  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
A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium.
EBI GWAS Catalog
A genome-wide scan of Ashkenazi Jewish Crohn's disease suggests novel susceptibility loci.
EBI GWAS Catalog
Genome-wide association study of hematological and biochemical traits in a Japanese population.
EBI GWAS Catalog
New gene functions in megakaryopoiesis and platelet formation.
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

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ATP binding IEA
Inferred from Electronic Annotation
more info
  
enables GTP binding IEA
Inferred from Electronic Annotation
more info
  
NOT enables adenylate kinase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables nucleoside triphosphate adenylate kinase activity EXP
Inferred from Experiment
more info
 PubMed 
enables nucleoside triphosphate adenylate kinase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables nucleoside triphosphate adenylate kinase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in ADP biosynthetic process IEA
Inferred from Electronic Annotation
more info
  
involved_in AMP metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in AMP metabolic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in GTP metabolic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in ITP metabolic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in UTP metabolic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in blood coagulation TAS
Traceable Author Statement
more info
  
involved_in nucleoside triphosphate biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in phosphorylation IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
is_active_in mitochondrial matrix IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in mitochondrial matrix ISS
Inferred from Sequence or Structural Similarity
more info
 PubMed 
located_in mitochondrial matrix TAS
Traceable Author Statement
more info
  
located_in mitochondrion IDA
Inferred from Direct Assay
more info
  
located_in mitochondrion ISS
Inferred from Sequence or Structural Similarity
more info
  

General protein information

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Preferred Names
GTP:AMP phosphotransferase AK3, mitochondrial
Names
GTP:AMP phosphotransferase, mitochondrial
adenylate kinase 3 alpha-like 1
adenylate kinase 6, adenylate kinase 3 like 1
NP_001186781.1
NP_001186782.1
NP_001186784.1
NP_001186785.1
NP_057366.2

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.

Genomic

  1. NG_028041.1 RefSeqGene

    Range
    5842..37488
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001199852.2 → NP_001186781.1  GTP:AMP phosphotransferase AK3, mitochondrial isoform b

    See identical proteins and their annotated locations for NP_001186781.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (b) has the same N- and C-termini but is shorter compared to isoform a.
    Source sequence(s)
    AF100785, AK001553, AK298200, AL136231, BX640794
    Consensus CDS
    CCDS56562.1
    UniProtKB/TrEMBL
    Q7Z4Y4
    Related
    ENSP00000413933.2, ENST00000447596.4
    Conserved Domains (2) summary
    cd01428
    Location:9 → 161
    ADK; Adenylate kinase (ADK) catalyzes the reversible phosphoryl transfer from adenosine triphosphates (ATP) to adenosine monophosphates (AMP) and to yield adenosine diphosphates (ADP). This enzyme is required for the biosynthesis of ADP and is essential for ...
    TIGR01351
    Location:9 → 173
    adk; adenylate kinase

  2. NM_001199853.2 → NP_001186782.1  GTP:AMP phosphotransferase AK3, mitochondrial isoform c

    See identical proteins and their annotated locations for NP_001186782.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (c) is shorter at the N-terminus compared to isoform a. Variants 3, 5, and 6 all encode the same isoform (c).
    Source sequence(s)
    AF100785, AF183419, AK001553, AL136231, BX640794
    Consensus CDS
    CCDS56561.1
    UniProtKB/TrEMBL
    B3KWD9
    Related
    ENSP00000352948.2, ENST00000359883.6
    Conserved Domains (1) summary
    pfam00406
    Location:1 → 120
    ADK; Adenylate kinase

  3. NM_001199855.2 → NP_001186784.1  GTP:AMP phosphotransferase AK3, mitochondrial isoform c

    See identical proteins and their annotated locations for NP_001186784.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (c) is shorter at the N-terminus compared to isoform a. Variants 3, 5, and 6 all encode the same isoform (c).
    Source sequence(s)
    AF100785, AF183419, AK001553, AL136231, BX640794, DA718987
    Consensus CDS
    CCDS56561.1
    UniProtKB/TrEMBL
    B3KWD9
    Related
    ENSP00000482308.1, ENST00000611749.4
    Conserved Domains (1) summary
    pfam00406
    Location:1 → 120
    ADK; Adenylate kinase

  4. NM_001199856.2 → NP_001186785.1  GTP:AMP phosphotransferase AK3, mitochondrial isoform c

    See identical proteins and their annotated locations for NP_001186785.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (c) is shorter at the N-terminus compared to isoform a. Variants 3, 5, and 6 all encode the same isoform (c).
    Source sequence(s)
    AF100785, AK001553, AL136231, BX640794, DA570364
    Consensus CDS
    CCDS56561.1
    UniProtKB/TrEMBL
    B3KWD9
    Conserved Domains (1) summary
    pfam00406
    Location:1 → 120
    ADK; Adenylate kinase

  5. NM_016282.4 → NP_057366.2  GTP:AMP phosphotransferase AK3, mitochondrial isoform a

    See identical proteins and their annotated locations for NP_057366.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a). Variants 1 and 4 both encode the same isoform (a).
    Source sequence(s)
    AF100785, AK001553, AL136231, BX640794
    Consensus CDS
    CCDS6455.1
    UniProtKB/Swiss-Prot
    B4DP58, D3DRI1, E7ET30, Q5VYW6, Q9H576, Q9HC01, Q9NPB4, Q9UIJ7
    UniProtKB/TrEMBL
    Q7Z4Y4
    Related
    ENSP00000371230.3, ENST00000381809.8
    Conserved Domains (1) summary
    pfam00406
    Location:12 → 190
    ADK; Adenylate kinase

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_000009.12 Reference GRCh38.p14 Primary Assembly

    Range
    4709556..4742043 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060933.1 Alternate T2T-CHM13v2.0

    Range
    4713232..4747171 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001199854.1: Suppressed sequence

    Description
    NM_001199854.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9UIJ7.4 GenPept UniProtKB/Swiss-Prot:Q9UIJ7

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