AK9 - adenylate kinase 9 Gene

Also Known as AK 9; AKD1; AKD2; C6orf199; C6orf224; dJ70A9.1

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 221264

About AK9

Cytogenetic location: 6q21 Genomic coordinates (GRCh38): 6:109,492,855-109,691,202 (from NCBI)

This gene has 12 transcripts (splice variants), 184 orthologues, 9 paralogues and is associated with 1 phenotype. Broad expression in testis (RPKM 4.3), thyroid (RPKM 0.9) and 23 other tissues.

Summary

The protein encoded by this gene catalyzes the interconversion of nucleosides, possessing both nucleoside monophosphate and diphosphate kinase activities. The encoded protein uses these interconversions to maintain nucleoside homeostasis. [provided by RefSeq, Jul 2016]

AK9 Products (4)

mRNA Protein Name
NM_001145128.3 NP_001138600.2 adenylate kinase 9 isoform 1
NM_001329602.2 NP_001316531.1 adenylate kinase 9 isoform 2
NM_001329603.2 NP_001316532.1 adenylate kinase 9 isoform 3
NM_145025.5 NP_659462.1 adenylate kinase 9 isoform 2
Molecular Function GO Annotation Evidence References Source
enables nucleoside diphosphate kinase activity IDA
IDA: Inferred from direct assay
23416111 GOA
enables nucleoside monophosphate kinase activity IDA
IDA: Inferred from direct assay
23416111 GOA
Cellular Component GO Annotation Evidence References Source
located in cytoplasm IDA
IDA: Inferred from direct assay
23416111 GOA
located in nucleus 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

AK9 Protein Structure

ADK

ADK: Adenylate kinase (35 - 246)

YHS

YHS: YHS domain (948 - 983)

ADK

ADK: Adenylate kinase (1086 - 1184)

ADK

ADK: Adenylate kinase (1416 - 1576)

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  • 1911 a.a.
Protein Preferred Names Protein Names

adenylate kinase 9

  • adenylate kinase domain containing 1

Related Diseases

Diseases Alias
Postsynaptic Congenital Myasthenic Syndromes
  • Congenital Myasthenic Syndromes, Postsynaptic

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

Congenital Myasthenic Syndrome
  • Congenital Myasthenia

  • Congenital Myasthenic Syndromes

  • Cms

  • Myasthenic Syndromes, Congenital

  • Myasthenic Syndromes Congenital

  • Myasthenic Syndrome, Congenital

  • Congenital Myasthenic Syndrome Ib

  • Congenital And Developmental Myasthenia

  • Developmental Myasthenia

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

Orthologs Information

Species Symbol Source ID
Macaca mulatta AK9 VGNC VGNC:81017
Rattus norvegicus AK9 RGD RGD:1559879
Mus musculus AK9 MGD MGI:2685080
Bos taurus AK9 VGNC VGNC:25778
Canis familiaris AK9 VGNC VGNC:37750
Others AK9 NCBI