AK7 - adenylate kinase 7 Gene

Also Known as AK 7; FAP75; CFAP75; SPGF27

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 122481

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	References	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

Pre-clinical Phase

Bioactive Molecules (4)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-16691	AK-7	Inhibitor	99.63%	Unkown
HY-RS00509	AK7 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS17436	Ak7 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS23892	Ak7 Rat Pre-designed siRNA Set A	Pre-designed Set	/	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