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AK8 adenylate kinase 8 [ Homo sapiens (human) ]

Gene ID: 158067, updated on 15-Jun-2019

Summary

Official Symbol
AK8provided by HGNC
Official Full Name
adenylate kinase 8provided by HGNC
Primary source
HGNC:HGNC:26526
See related
Ensembl:ENSG00000165695 MIM:615365
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
AK 8; DDX31; C9orf98
Expression
Biased expression in testis (RPKM 3.3), thyroid (RPKM 0.7) and 8 other tissues See more
Orthologs

Genomic context

See AK8 in Genome Data Viewer
Location:
9q34.13
Exon count:
17
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 9 NC_000009.12 (132725574..132878811, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (135600958..135754198, complement)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene BarH like homeobox 1 Neighboring gene DEAD-box helicase 31 Neighboring gene general transcription factor IIIC subunit 4 Neighboring gene sperm acrosome associated 9 Neighboring gene TSC complex subunit 1 Neighboring gene microRNA 548aw Neighboring gene growth factor independent 1B transcriptional repressor

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 FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Common genetic variation and antidepressant efficacy in major depressive disorder: a meta-analysis of three genome-wide pharmacogenetic studies.
NHGRI GWA Catalog
Molecular genetics of adult ADHD: converging evidence from genome-wide association and extended pedigree linkage studies.
NHGRI GWA Catalog
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
NHGRI GWA Catalog

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ32704, FLJ36014

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
adenylate kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
cytidylate kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
nucleoside diphosphate kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
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 
ventricular system development IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
axoneme IEA
Inferred from Electronic Annotation
more info
 
cytosol TAS
Traceable Author Statement
more info
 
sperm flagellum IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
adenylate kinase 8
Names
ATP-AMP transphosphorylase 8
putative adenylate kinase-like protein C9orf98
NP_001304887.1
NP_001304888.1
NP_689785.1
XP_005272226.1
XP_006717028.1
XP_011516579.1
XP_011516580.1
XP_016869797.1
XP_024303187.1
XP_024303188.1

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_001317958.1NP_001304887.1  adenylate kinase 8 isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) has multiple coding region differences, compared to variant 1. These differences cause translation initiation at a downstream start site and result in an isoform (2) with a shorter N-terminus, compared to isoform 1.
    Source sequence(s)
    AK093446, BC037402, BC050576
    UniProtKB/Swiss-Prot
    Q96MA6
    Conserved Domains (1) summary
    cd01428
    Location:66258
    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 ...
  2. NM_001317959.1NP_001304888.1  adenylate kinase 8 isoform 3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) has multiple coding region differences, compared to variant 1. These differences cause translation initiation at an alternate start site and result in a shorter isoform (3) with a distinct N-terminus, compared to isoform 1.
    Source sequence(s)
    AL445645, BC037402, BC050576
    UniProtKB/Swiss-Prot
    Q96MA6
    Conserved Domains (2) summary
    cd01428
    Location:98290
    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:98296
    adk; adenylate kinase
  3. NM_152572.2NP_689785.1  adenylate kinase 8 isoform 1

    See identical proteins and their annotated locations for NP_689785.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    BC050576
    Consensus CDS
    CCDS6954.1
    UniProtKB/Swiss-Prot
    Q96MA6
    Related
    ENSP00000298545.3, ENST00000298545.3
    Conserved Domains (1) summary
    cd01428
    Location:270462
    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

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
    132725574..132878811 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005272169.2XP_005272226.1  adenylate kinase 8 isoform X1

    Conserved Domains (2) summary
    cd01428
    Location:282474
    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:282480
    adk; adenylate kinase
  2. XM_011518278.2XP_011516580.1  adenylate kinase 8 isoform X3

    Conserved Domains (2) summary
    cd01428
    Location:196388
    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:196394
    adk; adenylate kinase
  3. XM_006716965.2XP_006717028.1  adenylate kinase 8 isoform X2

    Conserved Domains (2) summary
    cd01428
    Location:198390
    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:198396
    adk; adenylate kinase
  4. XM_024447419.1XP_024303187.1  adenylate kinase 8 isoform X6

    Conserved Domains (1) summary
    cd01428
    Location:66258
    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. XM_017014308.1XP_016869797.1  adenylate kinase 8 isoform X5

    Conserved Domains (2) summary
    cd01428
    Location:98290
    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:98296
    adk; adenylate kinase
  6. XM_024447420.1XP_024303188.1  adenylate kinase 8 isoform X6

    Conserved Domains (1) summary
    cd01428
    Location:66258
    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 ...
  7. XM_011518277.2XP_011516579.1  adenylate kinase 8 isoform X4

    Conserved Domains (3) summary
    cd01428
    Location:71261
    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:71270
    adk; adenylate kinase
    cl17190
    Location:282335
    NK; Nucleoside/nucleotide kinase (NK) is a protein superfamily consisting of multiple families of enzymes that share structural similarity and are functionally related to the catalysis of the reversible phosphate group transfer from nucleoside triphosphates ...

RNA

  1. XR_929719.2 RNA Sequence

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