Ak7 adenylate kinase 7 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Ak7provided by MGI
Official Full Name: adenylate kinase 7provided by MGI
Primary source: MGI:MGI:1926051
See related: Ensembl:ENSMUSG00000041323 AllianceGenome:MGI:1926051
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: AK 7; 4930502N02Rik
Summary: Predicted to enable (d)CMP kinase activity; adenylate kinase activity; and nucleoside diphosphate kinase activity. Acts upstream of or within several processes, including axoneme assembly; epithelial cilium movement involved in extracellular fluid movement; and inflammatory response to antigenic stimulus. Predicted to be located in cytosol; extracellular region; and motile cilium. Predicted to be active in cytoplasm. Is expressed in lung; lung epithelium; and nasal cavity respiratory epithelium. Used to study hydrocephalus and primary ciliary dyskinesia. Human ortholog(s) of this gene implicated in spermatogenic failure 27. Orthologous to human AK7 (adenylate kinase 7). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Biased expression in testis adult (RPKM 10.7), lung adult (RPKM 1.2) and 1 other tissue See more
Orthologs: human all
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Genomic context

Location:: 12 E; 12 55.95 cM

Exon count:: 18

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	12	NC_000078.7 (105670115..105748706)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	12	NC_000078.6 (105703858..105782447)

Chromosome 12 - NC_000078.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Data show that a mutation of the adenylate kinase 7 gene results in animals with pathological signs characteristic of primary ciliary dyskinesia, including ultrastructural ciliary defects and decreased ciliary beat frequency in respiratory epithelium.
Title: Mutation of murine adenylate kinase 7 underlies a primary ciliary dyskinesia phenotype.

Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (2)
Gene trapped (1)
Transgenic (1) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AU015738 (e-PCR)
- UniSTS:208865

AU015738 (e-PCR)
- UniSTS:180467

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables (d)CMP kinase activity	IBA Inferred from Biological aspect of Ancestor more info
enables (d)CMP kinase activity	ISO Inferred from Sequence Orthology more info
enables (d)CMP kinase activity	ISS Inferred from Sequence or Structural Similarity more info
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	ISO Inferred from Sequence Orthology more info
enables adenylate kinase activity	ISS Inferred from Sequence or Structural Similarity more info
enables nucleoside diphosphate kinase activity	IBA Inferred from Biological aspect of Ancestor more info
enables nucleoside diphosphate kinase activity	ISO Inferred from Sequence Orthology more info
enables nucleoside diphosphate kinase activity	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within axoneme assembly	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within brain development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within epithelial cilium movement involved in extracellular fluid movement	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within establishment of localization in cell	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within inflammatory response to antigenic stimulus	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in nucleoside monophosphate phosphorylation	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within spermatogenesis	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
located_in cytosol	IEA Inferred from Electronic Annotation more info
located_in extracellular region	IEA Inferred from Electronic Annotation 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_084463.1

EC 2.7.4.3

EC 2.7.4.6

XP_006516453.1

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_030187.1 → NP_084463.1 adenylate kinase 7

Status: VALIDATED

Source sequence(s)

AK019664, AK029555

Consensus CDS

CCDS49162.1

UniProtKB/Swiss-Prot

Q8BVH3, Q9D2H2

UniProtKB/TrEMBL

F8WIC0

Related

ENSMUSP00000043145.6, ENSMUST00000040876.7

Conserved Domains (4) summary

COG0451
Location:147 → 297

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:218 → 298

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

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000078.7 Reference GRCm39 C57BL/6J

Range

105670115..105748706

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006516390.4 → XP_006516453.1 adenylate kinase 7 isoform X1

UniProtKB/Swiss-Prot

Q8BVH3, Q9D2H2

Conserved Domains (3) summary

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 ...

TIGR01777
Location:82 → 268

yfcH; TIGR01777 family protein

pfam05186
Location:653 → 694

Dpy-30; Dpy-30 motif