AK4 adenylate kinase 4 [Homo sapiens (human)] - Gene

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; AllianceGenome:HGNC:363
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: mouse all
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Genomic context

Location:: 1p31.3

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (65147552..65232145)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (65025531..65110134)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (65613235..65697828)

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?

MiR-3666 serves as a tumor suppressor in ovarian carcinoma by down-regulating AK4 via targeting STAT3.
Title: MiR-3666 serves as a tumor suppressor in ovarian carcinoma by down-regulating AK4 via targeting STAT3.
Adenylate Kinase 4-A Key Regulator of Proliferation and Metabolic Shift in Human Pulmonary Arterial Smooth Muscle Cells via Akt and HIF-1alpha Signaling Pathways.
Title: Adenylate Kinase 4-A Key Regulator of Proliferation and Metabolic Shift in Human Pulmonary Arterial Smooth Muscle Cells via Akt and HIF-1α Signaling Pathways.
Adenylate Kinase 4 Modulates the Resistance of Breast Cancer Cells to Tamoxifen through an m(6)A-Based Epitranscriptomic Mechanism.
Title: Adenylate Kinase 4 Modulates the Resistance of Breast Cancer Cells to Tamoxifen through an m(6)A-Based Epitranscriptomic Mechanism.
Knockdown of circ-ABCB10 promotes sensitivity of lung cancer cells to cisplatin via miR-556-3p/AK4 axis.
Title: Knockdown of circ-ABCB10 promotes sensitivity of lung cancer cells to cisplatin via miR-556-3p/AK4 axis.
A co-expressed gene status of adenylate kinase 1/4 reveals prognostic gene signature associated with prognosis and sensitivity to EGFR targeted therapy in lung adenocarcinoma.
Title: A co-expressed gene status of adenylate kinase 1/4 reveals prognostic gene signature associated with prognosis and sensitivity to EGFR targeted therapy in lung adenocarcinoma.
High AK4 expression is associated with Breast Cancer by Facilitating Cell Proliferation and Invasion.
Title: AK4 Promotes the Progression of HER2-Positive Breast Cancer by Facilitating Cell Proliferation and Invasion.
The overexpression of AK4 stabilizes HIF-1alpha protein by increasing intracellular ROS levels and induces epithelial-to-mesenchymal transition in non-small cell lung cancer.
Title: Adenylate kinase 4 modulates oxidative stress and stabilizes HIF-1α to drive lung adenocarcinoma metastasis.
Study found that AK4 was positively correlated with poor prognosis of bladder cancer (BC) patients. Its knockdown in bladder cancer cell lines inhibited proliferation and invasion and suppressed tumor formation and metastasis in mice. AK4 may therefore represent a potential biomarker for the prognosis of bladder cancer.
Title: Adenylate kinase 4 promotes bladder cancer cell proliferation and invasion.
Our data revealed that both miR-199a-3p and its target gene AK4 are reversely correlated with the osteosarcoma drug resistance.
Title: MiR-199a-3p affects the multi-chemoresistance of osteosarcoma through targeting AK4.
Results found that AK4 was involved in hypoxia tolerance, resistance to anti-tumor drug, and the regulation of mitochondrial activity.
Title: Modulation of anti-cancer drug sensitivity through the regulation of mitochondrial activity by adenylate kinase 4.

Submit: New GeneRIF Correction See all GeneRIFs (15)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
A genome-wide search for common SNP x SNP interactions on the risk of venous thrombosis. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-74947 (e-PCR)
- UniSTS:44300

A009S21 (e-PCR)
- UniSTS:10551

WI-7525 (e-PCR)
- UniSTS:77919

SHGC-143375 (e-PCR)
- UniSTS:171888

G32808 (e-PCR)
- UniSTS:117387

G16073 (e-PCR)
- UniSTS:22414

AL009904 (e-PCR)
- UniSTS:65220

SGC34423 (e-PCR)
- UniSTS:29385

WI-11122 (e-PCR)
- UniSTS:6606

RH70853 (e-PCR)
- UniSTS:86783

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables (deoxy)adenylate kinase activity	IEA Inferred from Electronic Annotation more info
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables CMP kinase activity	IEA Inferred from Electronic Annotation more info
enables GTP binding	IEA Inferred from Electronic Annotation more info
NOT enables adenylate kinase activity	IDA Inferred from Direct Assay more info	PubMed
enables adenylate kinase activity	IDA Inferred from Direct Assay more info	PubMed
enables dCMP 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
enables nucleoside monophosphate kinase activity	TAS Traceable Author Statement more info
NOT enables nucleoside triphosphate adenylate kinase activity	IDA Inferred from Direct Assay more info	PubMed
enables nucleoside triphosphate adenylate kinase activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in ADP biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in AMP metabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in AMP metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in ATP metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in GTP metabolic process	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of cellular response to hypoxia	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cellular response to hypoxia	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in nucleobase-containing small molecule interconversion	TAS Traceable Author Statement more info
involved_in nucleoside monophosphate phosphorylation	IEA Inferred from Electronic Annotation more info
involved_in nucleoside triphosphate biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of oxidative phosphorylation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in ribonucleoside diphosphate biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
is_active_in mitochondrial matrix	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrial matrix	ISS Inferred from Sequence or Structural Similarity more info	PubMed
located_in mitochondrial matrix	TAS Traceable Author Statement more info
located_in mitochondrion	HTP more info	PubMed
located_in mitochondrion	IDA Inferred from Direct Assay more info	PubMed

General protein information

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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

EC 2.7.4.4

EC 2.7.4.6

NP_001317545.1

EC 2.7.4.4

EC 2.7.4.6

NP_037542.1

EC 2.7.4.4

EC 2.7.4.6

NP_982289.1

EC 2.7.4.4

EC 2.7.4.6

XP_016856102.1

EC 2.7.4.4

EC 2.7.4.6

XP_047305130.1

EC 2.7.4.4

EC 2.7.4.6

XP_054191032.1

EC 2.7.4.4

EC 2.7.4.6

XP_054191033.1

EC 2.7.4.4

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_001005353.3 → NP_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

B2R927, D3DQ62, P27144, Q6IBH4, Q6NXQ5, Q8IUU9

UniProtKB/TrEMBL

A0A384N647

Related

ENSP00000378743.2, ENST00000395334.6

Conserved Domains (1) summary

pfam00406
Location:10 → 188

ADK; Adenylate kinase
NM_001330616.2 → NP_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

F8VS11

Conserved Domains (1) summary

pfam00406
Location:1 → 136

ADK; Adenylate kinase
NM_013410.4 → NP_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

B2R927, D3DQ62, P27144, Q6IBH4, Q6NXQ5, Q8IUU9

UniProtKB/TrEMBL

A0A384N647

Related

ENSP00000322175.7, ENST00000327299.8

Conserved Domains (1) summary

pfam00406
Location:10 → 188

ADK; Adenylate kinase
NM_203464.3 → NP_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

B2R927, D3DQ62, P27144, Q6IBH4, Q6NXQ5, Q8IUU9

UniProtKB/TrEMBL

A0A384N647

Related

ENSP00000445912.1, ENST00000545314.5

Conserved Domains (1) summary

pfam00406
Location:10 → 188

ADK; Adenylate kinase

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

65147552..65232145

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017000613.2 → XP_016856102.1 adenylate kinase 4, mitochondrial isoform X1

UniProtKB/TrEMBL

F8VS11

Conserved Domains (1) summary

pfam00406
Location:1 → 136

ADK; Adenylate kinase
XM_047449174.1 → XP_047305130.1 adenylate kinase 4, mitochondrial isoform X1

UniProtKB/TrEMBL

F8VS11

Related

ENSP00000448458.1, ENST00000546702.5

Alternate T2T-CHM13v2.0

Genomic

NC_060925.1 Alternate T2T-CHM13v2.0

Range

65025531..65110134

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054335058.1 → XP_054191033.1 adenylate kinase 4, mitochondrial isoform X1

UniProtKB/TrEMBL

F8VS11
XM_054335057.1 → XP_054191032.1 adenylate kinase 4, mitochondrial isoform X1

UniProtKB/TrEMBL

F8VS11