AK7 adenylate kinase 7 [Homo sapiens (human)] - Gene

Summary

Official Symbol: AK7provided by HGNC
Official Full Name: adenylate kinase 7provided by HGNC
Primary source: HGNC:HGNC:20091
See related: Ensembl:ENSG00000140057 MIM:615364; AllianceGenome:HGNC:20091
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: AK 7; FAP75; CFAP75; SPGF27
Summary: This gene encodes a member of the adenylate kinase family of enzymes. The encoded enzyme is a phosphotransferase that catalyzes the reversible phosphorylation of adenine nucleotides. This enzyme plays a role in energy homeostasis of the cell. Alternative splicing results in multiple transcript variants. Mutations in the mouse gene are associated with primary ciliary dyskinesia. [provided by RefSeq, Apr 2017]
Expression: Broad expression in testis (RPKM 4.1), lung (RPKM 2.2) and 15 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 14q32.2

Exon count:: 18

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	14	NC_000014.9 (96392128..96489427)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	14	NC_060938.1 (90623724..90721030)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	14	NC_000014.8 (96858465..96955764)

Chromosome 14 - NC_000014.9 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
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?

A novel homozygous nonsense variant of AK7 is associated with multiple morphological abnormalities of the sperm flagella.
Title: A novel homozygous nonsense variant of AK7 is associated with multiple morphological abnormalities of the sperm flagella.
The mRNA and protein expressions of AK1, AK6 and AK7 are significantly down-regulated in the sperm of asthenospermia patients, which may be closely related with reduced sperm motility.
Title: [Expressions of the adenylate kinase family in asthenospermia].
a novel genetic cause of asthenozoospermia due to MMAF and suggests that in humans, more deleterious mutations of AK7 might induce primary ciliary dyskinesia.
Title: Homozygous missense mutation L673P in adenylate kinase 7 (AK7) leads to primary male infertility and multiple morphological anomalies of the flagella but not to primary ciliary dyskinesia.
AK7 may be involved in the development of Primary ciliary dyskinesia (PCD).
Title: New adenylate kinase 7 (AK7) mutation in primary ciliary dyskinesia.
Both AK7 and full-length AK8 showed highest affinity for AMP with ATP as the phosphate donor, and proved to be more efficient in AMP phosphorylation as compared with the major cytosolic isoform AK1
Title: The characterization of human adenylate kinases 7 and 8 demonstrates differences in kinetic parameters and structural organization among the family of adenylate kinase isoenzymes.
expression is decreased in patients with primary ciliary dyskinesia and is correlated with ciliary beat frequency of nasal epithelium cellsepithelium
Title: Role of adenylate kinase type 7 expression on cilia motility: possible link in primary ciliary dyskinesia.
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.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Spermatogenic failure 27 MedGen: C4693784 OMIM: 617965 GeneReviews: Not available	Compare labs

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

G35577 (e-PCR)
- UniSTS:30554

G35998 (e-PCR)
- UniSTS:50023

GDB:451706 (e-PCR)
- UniSTS:157351

D10S1151 (e-PCR)
- UniSTS:149172

G35398 (e-PCR)
- UniSTS:48074

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables (d)CMP kinase activity	IBA Inferred from Biological aspect of Ancestor more info
enables (d)CMP kinase activity	IDA Inferred from Direct Assay more info	PubMed
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables adenylate kinase activity	IBA Inferred from Biological aspect of Ancestor more info
enables adenylate kinase activity	IDA Inferred from Direct Assay more info	PubMed
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 cell projection organization	IEA Inferred from Electronic Annotation more info
involved_in nucleoside monophosphate phosphorylation	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	TAS Traceable Author Statement more info
located_in motile cilium	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: adenylate kinase 7

Names: ATP-AMP transphosphorylase 7; putative adenylate kinase 7

NP_001337817.1

EC 2.7.4.3

EC 2.7.4.6

NP_001337819.1

EC 2.7.4.3

EC 2.7.4.6

NP_001337820.1

EC 2.7.4.3

EC 2.7.4.6

NP_001337821.1

EC 2.7.4.3

EC 2.7.4.6

NP_689540.2

EC 2.7.4.3

EC 2.7.4.6

XP_006720084.1

EC 2.7.4.3

EC 2.7.4.6

XP_006720085.1

EC 2.7.4.3

EC 2.7.4.6

XP_016876447.1

EC 2.7.4.3

EC 2.7.4.6

XP_016876449.1

EC 2.7.4.3

EC 2.7.4.6

XP_047286869.1

EC 2.7.4.3

EC 2.7.4.6

XP_054231314.1

EC 2.7.4.3

EC 2.7.4.6

XP_054231315.1

EC 2.7.4.3

EC 2.7.4.6

XP_054231316.1

EC 2.7.4.3

EC 2.7.4.6

XP_054231317.1

EC 2.7.4.3

EC 2.7.4.6

XP_054231318.1

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.

Genomic

NG_054631.1 RefSeqGene

Range

5018..102317

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001350888.2 → NP_001337817.1 adenylate kinase 7 isoform 2

Status: REVIEWED

Source sequence(s)

AL163051, AL359240, BM981526

Conserved Domains (3) summary

COG0451
Location:147 → 310

WcaG; Nucleoside-diphosphate-sugar epimerase [Cell wall/membrane/envelope biogenesis]

cd01428
Location:369 → 525

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 ...

pfam05186
Location:656 → 688

Dpy-30; Dpy-30 motif
NM_001350890.2 → NP_001337819.1 adenylate kinase 7 isoform 3

Status: REVIEWED

Source sequence(s)

AL163051, AL359240, BM981526

Conserved Domains (3) summary

COG0451
Location:147 → 310

WcaG; Nucleoside-diphosphate-sugar epimerase [Cell wall/membrane/envelope biogenesis]

cd01428
Location:369 → 525

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 ...

pfam05186
Location:656 → 697

Dpy-30; Dpy-30 motif
NM_001350891.2 → NP_001337820.1 adenylate kinase 7 isoform 4

Status: REVIEWED

Source sequence(s)

AL163051, AL359240, BM981526

Conserved Domains (3) summary

COG0451
Location:147 → 290

WcaG; Nucleoside-diphosphate-sugar epimerase [Cell wall/membrane/envelope biogenesis]

cd01428
Location:343 → 522

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 ...

pfam05186
Location:653 → 694

Dpy-30; Dpy-30 motif
NM_001350892.2 → NP_001337821.1 adenylate kinase 7 isoform 5

Status: REVIEWED

Source sequence(s)

AL163051, AL359240, BM981526

Conserved Domains (3) summary

COG0451
Location:147 → 310

WcaG; Nucleoside-diphosphate-sugar epimerase [Cell wall/membrane/envelope biogenesis]

pfam05186
Location:613 → 654

Dpy-30; Dpy-30 motif

cl17190
Location:369 → 482

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 ...
NM_152327.5 → NP_689540.2 adenylate kinase 7 isoform 1

See identical proteins and their annotated locations for NP_689540.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longest isoform (1).

Source sequence(s)

AK057426, AL163051, AL359240, BC035256, BM981526

Consensus CDS

CCDS9945.1

UniProtKB/Swiss-Prot

Q8IYP6, Q96M32

Related

ENSP00000267584.4, ENST00000267584.9

Conserved Domains (4) summary

COG0451
Location:147 → 310

WcaG; Nucleoside-diphosphate-sugar epimerase [Cell wall/membrane/envelope biogenesis]

cd01428
Location:369 → 548

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 ...

pfam05186
Location:679 → 720

Dpy-30; Dpy-30 motif

cl21454
Location:149 → 307

NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins

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_000014.9 Reference GRCh38.p14 Primary Assembly

Range

96392128..96489427

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006720021.3 → XP_006720084.1 adenylate kinase 7 isoform X1

Conserved Domains (5) summary

COG0451
Location:147 → 310

WcaG; Nucleoside-diphosphate-sugar epimerase [Cell wall/membrane/envelope biogenesis]

cd01428
Location:369 → 548

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 ...

pfam05186
Location:679 → 711

Dpy-30; Dpy-30 motif

pfam13900
Location:713 → 730

GVQW; Putative domain of unknown function

cl21454
Location:149 → 307

NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins
XM_017020958.2 → XP_016876447.1 adenylate kinase 7 isoform X4
XM_006720022.3 → XP_006720085.1 adenylate kinase 7 isoform X2

Conserved Domains (5) summary

COG0451
Location:147 → 290

WcaG; Nucleoside-diphosphate-sugar epimerase [Cell wall/membrane/envelope biogenesis]

cd01428
Location:343 → 522

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 ...

pfam05186
Location:653 → 685

Dpy-30; Dpy-30 motif

pfam13900
Location:687 → 704

GVQW; Putative domain of unknown function

cl21454
Location:149 → 290

NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins
XM_047430913.1 → XP_047286869.1 adenylate kinase 7 isoform X3
XM_017020960.2 → XP_016876449.1 adenylate kinase 7 isoform X5