Format

Send to:

Choose Destination

AK4 adenylate kinase 4 [ Homo sapiens (human) ]

Gene ID: 205, updated on 7-Jun-2020

Summary

Official Symbol
AK4provided by HGNC
Official Full Name
adenylate kinase 4provided by HGNC
Primary source
HGNC:HGNC:363
See related
Ensembl:ENSG00000162433 MIM:103030
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
AK3; AK 4; AK3L1; AK3L2
Summary
This gene encodes a member of the adenylate kinase family of enzymes. The encoded protein is localized to the mitochondrial matrix. Adenylate kinases regulate the adenine and guanine nucleotide compositions within a cell by catalyzing the reversible transfer of phosphate group among these nucleotides. Five isozymes of adenylate kinase have been identified in vertebrates. Expression of these isozymes is tissue-specific and developmentally regulated. A pseudogene for this gene has been located on chromosome 17. Three transcript variants encoding the same protein have been identified for this gene. Sequence alignment suggests that the gene defined by NM_013410, NM_203464, and NM_001005353 is located on chromosome 1. [provided by RefSeq, Jul 2008]
Annotation information
Note: On Build 36.2, AK3L1 and AK3L2 (GeneID 387851) were annotated at the same location. AK3L2 is defined as a locus on Chr12, which was annotated on Build 36.2 as GeneID 645619 on the reference assembly and 731007 on the Celera assembly. To remove the extra record, GeneID 387851 was merged into GeneID 205, and GeneID 645619 was renamed AK3L2. [13 Feb 2013]
Expression
Biased expression in kidney (RPKM 79.4), liver (RPKM 24.7) and 11 other tissues See more
Orthologs

Genomic context

See AK4 in Genome Data Viewer
Location:
1p31.3
Exon count:
8
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (65147342..65232145)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (65613232..65697828)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene ribosomal protein S24 pseudogene Neighboring gene mitochondrial ribosomal protein S21 pseudogene 1 Neighboring gene ribosomal protein S29 pseudogene 7 Neighboring gene uncharacterized LOC102724416 Neighboring gene DnaJ heat shock protein family (Hsp40) member C6 Neighboring gene uncharacterized LOC112268227 Neighboring gene cytochrome c oxidase subunit 6C pseudogene 13

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

NHGRI GWAS Catalog

Description
A genome-wide search for common SNP x SNP interactions on the risk of venous thrombosis.
NHGRI GWA Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC166959

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
 
adenylate kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
NOT adenylate kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
nucleoside diphosphate kinase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleoside diphosphate kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
nucleoside monophosphate kinase activity TAS
Traceable Author Statement
more info
 
nucleoside triphosphate adenylate kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
NOT 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 
ATP metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
GTP metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
brain development IEA
Inferred from Electronic Annotation
more info
 
cellular response to hypoxia IMP
Inferred from Mutant Phenotype
more info
PubMed 
liver development IEA
Inferred from Electronic Annotation
more info
 
nucleobase-containing small molecule interconversion TAS
Traceable Author Statement
more info
 
nucleoside diphosphate phosphorylation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleoside diphosphate phosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
nucleoside monophosphate phosphorylation IEA
Inferred from Electronic Annotation
more info
 
nucleoside triphosphate biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleoside triphosphate biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
purine nucleotide metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of ATP biosynthetic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of oxidative phosphorylation IMP
Inferred from Mutant Phenotype
more info
PubMed 
response to drug IEA
Inferred from Electronic Annotation
more info
 
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
PubMed 

General protein information

Preferred Names
adenylate kinase 4, mitochondrial
Names
ATP-AMP transphosphorylase
GTP:AMP phosphotransferase AK4, mitochondrial
adenylate kinase 3-like 1
adenylate kinase isoenzyme 4, mitochondrial
epididymis secretory sperm binding protein
mitochondrial adenylate kinase-3
nucleoside-triphosphate-adenylate kinase
NP_001005353.1
NP_001317545.1
NP_037542.1
NP_982289.1
XP_016856102.1

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.

mRNA and Protein(s)

  1. NM_001005353.2NP_001005353.1  adenylate kinase 4, mitochondrial isoform a

    See identical proteins and their annotated locations for NP_001005353.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (a). Variants 1, 2, and 3 all encode the same isoform (a).
    Source sequence(s)
    AL356212, BC016180, BG703687, DR003868
    Consensus CDS
    CCDS629.1
    UniProtKB/Swiss-Prot
    P27144
    Related
    ENSP00000378743.2, ENST00000395334.6
    Conserved Domains (1) summary
    TIGR01351
    Location:7211
    adk; adenylate kinase
  2. NM_001330616.2NP_001317545.1  adenylate kinase 4, mitochondrial isoform b

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (b) is shorter at the N-terminus compared to isoform a.
    Source sequence(s)
    AC099680, AL356212
    Consensus CDS
    CCDS81340.1
    UniProtKB/TrEMBL
    D3DQ64
    Related
    ENSP00000448458.1, ENST00000546702.5
    Conserved Domains (1) summary
    pfam00406
    Location:1136
    ADK; Adenylate kinase
  3. NM_013410.4NP_037542.1  adenylate kinase 4, mitochondrial isoform a

    See identical proteins and their annotated locations for NP_037542.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2, and 3 all encode the same isoform (a).
    Source sequence(s)
    AL356212, BC040224, DB061266
    Consensus CDS
    CCDS629.1
    UniProtKB/Swiss-Prot
    P27144
    Related
    ENSP00000322175.7, ENST00000327299.8
    Conserved Domains (1) summary
    TIGR01351
    Location:7211
    adk; adenylate kinase
  4. NM_203464.2NP_982289.1  adenylate kinase 4, mitochondrial isoform a

    See identical proteins and their annotated locations for NP_982289.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1, 2, and 3 all encode the same isoform (a).
    Source sequence(s)
    AL356212, BC016180, BM763432
    Consensus CDS
    CCDS629.1
    UniProtKB/Swiss-Prot
    P27144
    Related
    ENSP00000445912.1, ENST00000545314.5
    Conserved Domains (1) summary
    TIGR01351
    Location:7211
    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_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    65147342..65232145
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017000613.1XP_016856102.1  adenylate kinase 4, mitochondrial isoform X1

    UniProtKB/TrEMBL
    D3DQ64
    Conserved Domains (1) summary
    pfam00406
    Location:1136
    ADK; Adenylate kinase
Support Center