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AK1 adenylate kinase 1 [ Homo sapiens (human) ]

Gene ID: 203, updated on 3-Nov-2018

Summary

Official Symbol
AK1provided by HGNC
Official Full Name
adenylate kinase 1provided by HGNC
Primary source
HGNC:HGNC:361
See related
Ensembl:ENSG00000106992 MIM:103000; Vega:OTTHUMG00000020722
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
HTL-S-58j
Summary
This gene encodes an adenylate kinase enzyme involved in energy metabolism and homeostasis of cellular adenine nucleotide ratios in different intracellular compartments. This gene is highly expressed in skeletal muscle, brain and erythrocytes. Certain mutations in this gene resulting in a functionally inadequate enzyme are associated with a rare genetic disorder causing nonspherocytic hemolytic anemia. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]
Expression
Ubiquitous expression in heart (RPKM 35.4), lung (RPKM 29.7) and 25 other tissues See more
Orthologs

Genomic context

See AK1 in Genome Data Viewer
Location:
9q34.11
Exon count:
10
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 9 NC_000009.12 (127866480..127885542, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (130628759..130640022, complement)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105379841 Neighboring gene endoglin Neighboring gene RNA, 5S ribosomal pseudogene 296 Neighboring gene microRNA 4672 Neighboring gene ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 6 Neighboring gene ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 4 Neighboring gene phosphatidylinositol-4-phosphate 5-kinase like 1

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 Jun 15 11:32:44 2016

Bibliography

Related articles in PubMed

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

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
 
adenylate kinase activity EXP
Inferred from Experiment
more info
PubMed 
nucleoside diphosphate kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
ADP biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
AMP metabolic process IEA
Inferred from Electronic Annotation
more info
 
ATP metabolic process IEA
Inferred from Electronic Annotation
more info
 
nucleobase-containing small molecule interconversion TAS
Traceable Author Statement
more info
 
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 IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
cytosol IDA
Inferred from Direct Assay
more info
 
cytosol TAS
Traceable Author Statement
more info
 
extracellular exosome HDA PubMed 

General protein information

Preferred Names
adenylate kinase isoenzyme 1
Names
ATP-AMP transphosphorylase 1
ATP:AMP phosphotransferase
adenylate monophosphate kinase
epididymis secretory sperm binding protein
myokinase
testis secretory sperm binding protein Li 58j
NP_000467.1
NP_001305050.1
NP_001305051.1
XP_016869917.1
XP_024303207.1
XP_024303208.1

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.

Genomic

  1. NG_011792.1 RefSeqGene

    Range
    5001..16264
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000476.2NP_000467.1  adenylate kinase isoenzyme 1 isoform 1

    See identical proteins and their annotated locations for NP_000467.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the shorter isoform (1). Both variants 1 and 2 encode the same protein (isoform 1).
    Source sequence(s)
    AL157935, BC100022, DA077967
    Consensus CDS
    CCDS6881.1
    UniProtKB/Swiss-Prot
    P00568
    UniProtKB/TrEMBL
    Q6FGX9
    Related
    ENSP00000362271.1, OTTHUMP00000022217, ENST00000373176.5, OTTHUMT00000054307
    Conserved Domains (1) summary
    TIGR01360
    Location:6193
    aden_kin_iso1; adenylate kinase, isozyme 1 subfamily
  2. NM_001318121.1NP_001305050.1  adenylate kinase isoenzyme 1 isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same protein (isoform 1).
    Source sequence(s)
    AL157935, CR975542
    Consensus CDS
    CCDS6881.1
    UniProtKB/Swiss-Prot
    P00568
    UniProtKB/TrEMBL
    Q6FGX9
    Conserved Domains (1) summary
    TIGR01360
    Location:6193
    aden_kin_iso1; adenylate kinase, isozyme 1 subfamily
  3. NM_001318122.1NP_001305051.1  adenylate kinase isoenzyme 1 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region and initiates translation at an alternate start site, compared to variant 1. It encodes isoform 2 which is longer and has a distinct N-terminus compared to variant 1.
    Source sequence(s)
    AL157935, BG772183, HY024815
    Consensus CDS
    CCDS83419.1
    UniProtKB/TrEMBL
    Q5T9B7
    Related
    ENSP00000223836.10, OTTHUMP00000022219, ENST00000223836.10, OTTHUMT00000054310
    Conserved Domains (2) summary
    TIGR01360
    Location:22209
    aden_kin_iso1; adenylate kinase, isozyme 1 subfamily
    cd01428
    Location:26198
    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 ...

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p12 Primary Assembly

    Range
    127866480..127885542 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017014428.1XP_016869917.1  adenylate kinase isoenzyme 1 isoform X1

    UniProtKB/Swiss-Prot
    P00568
    UniProtKB/TrEMBL
    Q6FGX9
    Related
    ENSP00000362249.1, OTTHUMP00000022218, ENST00000373156.5, OTTHUMT00000054309
    Conserved Domains (1) summary
    TIGR01360
    Location:6193
    aden_kin_iso1; adenylate kinase, isozyme 1 subfamily
  2. XM_024447440.1XP_024303208.1  adenylate kinase isoenzyme 1 isoform X3

    Conserved Domains (1) summary
    cl27057
    Location:1133
    ADK; Adenylate kinase
  3. XM_024447439.1XP_024303207.1  adenylate kinase isoenzyme 1 isoform X2

    Conserved Domains (1) summary
    TIGR01360
    Location:8186
    aden_kin_iso1; adenylate kinase, isozyme 1 subfamily
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