AK7 - adenylate kinase 7 Gene

Homo sapiens

Also known as AK 7; FAP75; CFAP75; SPGF27

Gene ID: 122481 | Gene type: protein coding

About AK7

Cytogenetic location: 14q32.2 Genomic coordinates (GRCh38): 14:96,392,128-96,489,427 (from NCBI)

This gene has 5 transcripts (splice variants), 259 orthologues, 9 paralogues and is associated with 2 phenotypes. Broad expression in testis (RPKM 4.1), lung (RPKM 2.2) and 15 other tissues.

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]

AK7 Products(5)

mRNA	Protein	Name
NM_001350888.2	NP_001337817.1	adenylate kinase 7 isoform 2
NM_001350890.2	NP_001337819.1	adenylate kinase 7 isoform 3
NM_001350891.2	NP_001337820.1	adenylate kinase 7 isoform 4
NM_001350892.2	NP_001337821.1	adenylate kinase 7 isoform 5
NM_152327.5	NP_689540.2	adenylate kinase 7 isoform 1

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	Reference	Source
enables (d)CMP kinase activity	IDA IDA: Inferred from direct assay	21080915	GOA
enables adenylate kinase activity	IDA IDA: Inferred from direct assay	21080915	GOA
enables nucleoside diphosphate kinase activity	IDA IDA: Inferred from direct assay	23416111	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

AK7 Protein Structure

AAA_17

Dpy-30

0
200
400
600
723 a.a.

Protein Preferred Names

Protein Names

adenylate kinase 7

ATP-AMP transphosphorylase 7

Related Diseases

Diseases

Alias

Spermatogenic Failure 27

SPGF27

Non-Syndromic Male Infertility Due To Sperm Motility Disorder

Non-Syndromic Male Infertility Due Asthenozoospermia

Primary Ciliary Dyskinesia

Immotile Cilia Syndrome	Kartagener Syndrome
Dextrocardia Bronchiectasis And Sinusitis	Pcd
Ciliary Motility Disorders	Ciliary Motility Disorder
Immotile Ciliary Syndrome	Ciliary Dyskinesia Primary
Ics	Polynesian Bronchiectasis
Dextrocardia-Bronchiectasis-Sinusitis Syndrome	Immotile Cilia Syndrome, Kartagener Type
Primary Ciliary Dyskinesia And Situs Inversus	Primary Ciliary Dyskinesia, Kartagener Type
Siewert Syndrome	Dyskinesia, Ciliary, Primary

Infertility

Spermatogenic Failure

Azoospermia	Spgf
Spermatogenic Failure, Susceptibility To	Absent Sperm
Aspermatogenesis	Infertility Due To Azoospermia
Hypospermatogenesis	Azoospermatism

Reticular Dysgenesis

Severe Combined Immunodeficiency With Leukopenia	De Vaal Disease
Congenital Aleukia	Aleukocytosis
Hematopoietic Hypoplasia, Generalized	Reticular Dysgenesia
Devaal Disease	Rd
Ak2 Deficiency	Congenital Aleukocytosis
Generalized Hematopoietic Hypoplasia	Scid With Leukopenia
RDYS

Bardet-Biedl Syndrome 1

BBS1	Bardet-Biedl Syndrome 1, Modifier Of
Bardet-Biedl Syndrome	BBS
Bardet-Biedl Syndrome, Type 1	Laurence-Moon-Bardet-Biedl Syndrome

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-16691	AK-7	Inhibitor	99.93%	Unkown
HY-RS00509	AK7 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	AK7	VGNC	VGNC:25776
Mus musculus	AK7	MGD	MGI:1926051
Rattus norvegicus	AK7	RGD	RGD:1309600
Canis familiaris	AK7	VGNC	VGNC:37748
Felis catus	AK7	VGNC	VGNC:59708
Macaca mulatta	AK7	VGNC	VGNC:69643
Others	AK7	NCBI

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