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AK3 adenylate kinase 3 [ Homo sapiens (human) ]

Gene ID: 50808, updated on 1-Jun-2020

Summary

Official Symbol
AK3provided by HGNC
Official Full Name
adenylate kinase 3provided by HGNC
Primary source
HGNC:HGNC:17376
See related
Ensembl:ENSG00000147853 MIM:609290
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

Genomic context

See AK3 in Genome Data Viewer
Location:
9p24.1
Exon count:
8
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 9 NC_000009.12 (4709556..4742043, complement)
105 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 cell division cycle 37 like 1 Neighboring gene extracellular matrix protein 1 pseudogene 1 Neighboring gene RPS5 pseudogene 6

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

Phenotypes

NHGRI GWAS Catalog

Description
A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium.
NHGRI GWA Catalog
A genome-wide scan of Ashkenazi Jewish Crohn's disease suggests novel susceptibility loci.
NHGRI GWA Catalog
Genome-wide association study of hematological and biochemical traits in a Japanese population.
NHGRI GWA Catalog
New gene functions in megakaryopoiesis and platelet formation.
NHGRI GWA Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

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

General protein information

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)

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
    5001..37488
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001199852.2NP_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/Swiss-Prot
    Q9UIJ7
    UniProtKB/TrEMBL
    Q7Z4Y4
    Related
    ENSP00000413933.2, ENST00000447596.4
    Conserved Domains (2) summary
    cd01428
    Location:9161
    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:9173
    adk; adenylate kinase
  2. NM_001199853.1NP_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/Swiss-Prot
    Q9UIJ7
    UniProtKB/TrEMBL
    Q7Z4Y4
    Related
    ENSP00000352948.2, ENST00000359883.6
    Conserved Domains (1) summary
    cd01428
    Location:1131
    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 ...
  3. NM_001199855.1NP_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/Swiss-Prot
    Q9UIJ7
    UniProtKB/TrEMBL
    Q7Z4Y4
    Related
    ENSP00000482308.1, ENST00000611749.4
    Conserved Domains (1) summary
    cd01428
    Location:1131
    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 ...
  4. NM_001199856.1NP_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/Swiss-Prot
    Q9UIJ7
    UniProtKB/TrEMBL
    Q7Z4Y4
    Conserved Domains (1) summary
    cd01428
    Location:1131
    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 ...
  5. NM_016282.4NP_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
    Q9UIJ7
    UniProtKB/TrEMBL
    Q7Z4Y4
    Related
    ENSP00000371230.3, ENST00000381809.8
    Conserved Domains (1) summary
    pfam00406
    Location:12190
    ADK; Adenylate kinase

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p13 Primary Assembly

    Range
    4709556..4742043 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.
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