AK5 adenylate kinase 5 [Homo sapiens (human)] - Gene

Summary

Official Symbol: AK5provided by HGNC
Official Full Name: adenylate kinase 5provided by HGNC
Primary source: HGNC:HGNC:365
See related: Ensembl:ENSG00000154027 MIM:608009; AllianceGenome:HGNC:365
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
Summary: This gene encodes a member of the adenylate kinase family, which is involved in regulating the adenine nucleotide composition within a cell by catalyzing the reversible transfer of phosphate groups among adenine nucleotides. This member is related to the UMP/CMP kinase of several species. It is located in the cytosol and expressed exclusively in brain. Alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
Expression: Biased expression in brain (RPKM 40.3) and testis (RPKM 0.8) See more
Orthologs: mouse all
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Genomic context

Location:: 1p31.1

Exon count:: 17

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (77282019..77559966)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (77120194..77398823)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (77747704..78025651)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Identification of novel DNA hypermethylation of the adenylate kinase 5 promoter in colorectal adenocarcinoma.
Title: Identification of novel DNA hypermethylation of the adenylate kinase 5 promoter in colorectal adenocarcinoma.
AK5, a novel prognosis marker, inhibits apoptosis and promotes autophagy as well as proliferation in human gastric cancer.
Title: AK5, a novel prognosis marker, inhibits apoptosis and promotes autophagy as well as proliferation in human gastric cancer.
Results indicate that AK5 expression significantly decreased in temporal lobe epilepsy: the expression of AK5 in epileptic brain tissue may play important roles in epilepsy, especially refractory epilepsy
Title: Down-regulation of adenylate kinase 5 in temporal lobe epilepsy patients and rat model.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Data demonstrate that human adenylate kinase 5 has two separate functional domains and that both have enzymatic activity.
Title: Identification of two active functional domains of human adenylate kinase 5.

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Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Tat	tat	HIV-1 Tat downregulates the expression of adenylate kinase 5 (AK5) in human primary T cells	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

G60475 (e-PCR)
- UniSTS:137731

RH103803 (e-PCR)
- UniSTS:98128

SHGC-30349 (e-PCR)
- UniSTS:63095

SHGC-75022 (e-PCR)
- UniSTS:56717

SHGC-53458 (e-PCR)
- UniSTS:45974

D1S499 (e-PCR)
- UniSTS:41138

D1S499 (e-PCR)
- UniSTS:78781

D1S2456 (e-PCR)
- UniSTS:70335

AL009966 (e-PCR)
- UniSTS:75476

D1S2157 (e-PCR)
- UniSTS:65493

AFMA114ZD9 (e-PCR)
- UniSTS:35543

A004B41 (e-PCR)
- UniSTS:47837

D1S1862E (e-PCR)
- UniSTS:72926

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables adenylate kinase activity	IEA Inferred from Electronic Annotation more info
enables nucleoside diphosphate kinase activity	IBA Inferred from Biological aspect of Ancestor more info
enables nucleoside diphosphate kinase activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in ADP biosynthetic process	TAS Traceable Author Statement more info	PubMed
involved_in ATP metabolic process	IEA Inferred from Electronic Annotation more info
involved_in dADP biosynthetic process	TAS Traceable Author Statement more info	PubMed
involved_in nucleoside monophosphate phosphorylation	IEA Inferred from Electronic Annotation more info
involved_in phosphorylation	IEA Inferred from Electronic Annotation more info
involved_in pyrimidine ribonucleotide biosynthetic process	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in centriolar satellite	IDA Inferred from Direct Assay more info
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	IDA Inferred from Direct Assay more info
located_in cytosol	TAS Traceable Author Statement more info

General protein information

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Preferred Names: adenylate kinase isoenzyme 5

Names: AK 5; ATP-AMP transphosphorylase 5; adenylate kinase 6

NP_036225.2

EC 2.7.4.3

EC 2.7.4.6

NP_777283.1

EC 2.7.4.3

EC 2.7.4.6

XP_005270796.1

EC 2.7.4.3

EC 2.7.4.6

XP_006710635.1

EC 2.7.4.3

EC 2.7.4.6

XP_016856497.1

EC 2.7.4.3

EC 2.7.4.6

XP_016856501.1

EC 2.7.4.3

EC 2.7.4.6

XP_047273677.1

EC 2.7.4.3

EC 2.7.4.6

XP_047273696.1

EC 2.7.4.3

EC 2.7.4.6

XP_054191933.1

EC 2.7.4.3

EC 2.7.4.6

XP_054191934.1

EC 2.7.4.3

EC 2.7.4.6

XP_054191935.1

EC 2.7.4.3

EC 2.7.4.6

XP_054191936.1

EC 2.7.4.3

EC 2.7.4.6

XP_054191937.1

EC 2.7.4.3

EC 2.7.4.6

XP_054191938.1

EC 2.7.4.3

EC 2.7.4.6

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.

mRNA and Protein(s)

NM_012093.4 → NP_036225.2 adenylate kinase isoenzyme 5 isoform 2

See identical proteins and their annotated locations for NP_036225.2

Status: REVIEWED

Description

Transcript Variant: This variant (2) has an alternate and longer first exon which results in the use of a downstream start codon, compared to variant 1. It encodes isoform 2, which has a shorter N-terminus when it is compared to isoform 1.

Source sequence(s)

AC093433, AC093575, AC095030, KF459522

Consensus CDS

CCDS676.1

UniProtKB/Swiss-Prot

Q9Y6K8

Related

ENSP00000341430.5, ENST00000344720.9

Conserved Domains (2) summary

TIGR01360
Location:348 → 535

aden_kin_iso1; adenylate kinase, isozyme 1 subfamily

cd01428
Location:352 → 524

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 ...
NM_174858.3 → NP_777283.1 adenylate kinase isoenzyme 5 isoform 1

See identical proteins and their annotated locations for NP_777283.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the shorter transcript yet it encodes the longer protein (isoform 1).

Source sequence(s)

AF445193, AW665223, BC036666

Consensus CDS

CCDS675.1

UniProtKB/Swiss-Prot

Q5U622, Q6FH66, Q7Z4T5, Q86YS0, Q8N464, Q96EC9, Q9Y6K8

Related

ENSP00000346577.2, ENST00000354567.7

Conserved Domains (2) summary

TIGR01360
Location:374 → 561

aden_kin_iso1; adenylate kinase, isozyme 1 subfamily

cd01428
Location:378 → 550

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: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000001.11 Reference GRCh38.p14 Primary Assembly

Range

77282019..77559966

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_005270739.6 → XP_005270796.1 adenylate kinase isoenzyme 5 isoform X1

See identical proteins and their annotated locations for XP_005270796.1

Conserved Domains (2) summary

TIGR01360
Location:350 → 537

aden_kin_iso1; adenylate kinase, isozyme 1 subfamily

cd01428
Location:354 → 526

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 ...
XM_017001012.2 → XP_016856501.1 adenylate kinase isoenzyme 5 isoform X3
XM_047417740.1 → XP_047273696.1 adenylate kinase isoenzyme 5 isoform X4
XM_047417721.1 → XP_047273677.1 adenylate kinase isoenzyme 5 isoform X2
XM_017001008.3 → XP_016856497.1 adenylate kinase isoenzyme 5 isoform X2

UniProtKB/Swiss-Prot

Q9Y6K8

Conserved Domains (2) summary

TIGR01360
Location:348 → 535

aden_kin_iso1; adenylate kinase, isozyme 1 subfamily

cd01428
Location:352 → 524

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 ...
XM_006710572.4 → XP_006710635.1 adenylate kinase isoenzyme 5 isoform X2

See identical proteins and their annotated locations for XP_006710635.1

UniProtKB/Swiss-Prot

Q9Y6K8

Conserved Domains (2) summary

TIGR01360
Location:348 → 535

aden_kin_iso1; adenylate kinase, isozyme 1 subfamily

cd01428
Location:352 → 524

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 ...