AK3 - adenylate kinase 3 Gene

Also Known as AK6; FIX; AK3L1; AKL3L; AKL3L1

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 50808

About AK3

Cytogenetic location: 9p24.1 Genomic coordinates (GRCh38): 9:4,709,556-4,742,043 (from NCBI)

This gene has 4 transcripts (splice variants), 230 orthologues and 9 paralogues. Ubiquitous expression in liver (RPKM 32.7), fat (RPKM 26.9) and 25 other tissues.

Summary

The protein encoded by this gene is a GTP:ATP phosphotransferase that is found in the mitochondrial matrix. Several transcript variants encoding a few different isoforms have been found for this gene. [provided by RefSeq, Dec 2010]

AK3 Products (5)

mRNA Protein Name
NM_001199852.2 NP_001186781.1 GTP:AMP phosphotransferase AK3, mitochondrial isoform b
NM_001199853.2 NP_001186782.1 GTP:AMP phosphotransferase AK3, mitochondrial isoform c
NM_001199855.2 NP_001186784.1 GTP:AMP phosphotransferase AK3, mitochondrial isoform c
NM_001199856.2 NP_001186785.1 GTP:AMP phosphotransferase AK3, mitochondrial isoform c
NM_016282.4 NP_057366.2 GTP:AMP phosphotransferase AK3, mitochondrial isoform a
Molecular Function GO Annotation Evidence References Source
NOT enables adenylate kinase activity IDA
IDA: Inferred from direct assay
11485571 GOA
enables nucleoside triphosphate adenylate kinase activity EXP
EXP: Inferred from Experiment
218813 GOA
enables nucleoside triphosphate adenylate kinase activity IDA
IDA: Inferred from direct assay
11485571 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
25416956 GOA
Biological Process GO Annotation Evidence References Source
involved in AMP metabolic process IDA
IDA: Inferred from direct assay
11485571 GOA
involved in GTP metabolic process IDA
IDA: Inferred from direct assay
11485571 GOA
involved in ITP metabolic process IDA
IDA: Inferred from direct assay
11485571 GOA
involved in UTP metabolic process IDA
IDA: Inferred from direct assay
11485571 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

AK3 Protein Structure

ADK

ADK: Adenylate kinase (12 - 191)

ADK_lid

ADK_lid: Adenylate kinase, active site lid (128 - 163)

  • 0
  • 100
  • 200
  • 227 a.a.
Protein Preferred Names Protein Names

GTP:AMP phosphotransferase AK3, mitochondrial

  • GTP:AMP phosphotransferase, mitochondrial

AK3 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
AK3 Q9UIJ7 KRTAP10-8 Homo sapiens P60410 32296183
Intra
AK3 Q9UIJ7 KRTAP10-8 Homo sapiens P60410 32296183
Intra
AK3 Q9UIJ7 JPH3 Homo sapiens Q8WXH2 32814053
Intra
AK3 Q9UIJ7 JPH3 Homo sapiens Q8WXH2 32814053
Intra
AK3 Q9UIJ7 JPH3 Homo sapiens Q8WXH2 32814053
Intra
AK3 Q9UIJ7 APOE Homo sapiens P02649 32814053
Intra
AK3 Q9UIJ7 APOE Homo sapiens P02649 32814053
Intra
AK3 Q9UIJ7 APOE Homo sapiens P02649 32814053
Intra
AK3 Q9UIJ7 WFS1 Homo sapiens O76024 32814053
Intra
AK3 Q9UIJ7 WFS1 Homo sapiens O76024 32814053
Intra
AK3 Q9UIJ7 WFS1 Homo sapiens O76024 32814053
Intra
AK3 Q9UIJ7 APPBP2 Homo sapiens Q92624 25416956
Intra
AK3 Q9UIJ7 APPBP2 Homo sapiens Q92624 25416956
Intra
AK3 Q9UIJ7 APPBP2 Homo sapiens Q92624 32296183
Intra
AK3 Q9UIJ7 APPBP2 Homo sapiens Q92624 32296183
Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant AK3 Proteins

Cat. No. Product Name Accession Purity
HY-P71645 AK3 Protein, Human (Myc, His) Q9UIJ7-1 (M1-P227) ≥ 90%, as determined by reducing SDS-PAGE.

Related Diseases

Diseases Alias
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

Orofacial Cleft 8
  • OFC8

  • Cleft Lip With Or Without Cleft Palate, Nonsyndromic, 8

  • Non-Syndromic Cleft Lip/Palate 8

  • Non-Syndromic Cleft Lip With Or Without Cleft Palate 8

  • Orofacial Cleft, Type 8

Amyloidosis, Familial Visceral
  • Ostertag Type Amyloidosis

  • German Type Amyloidosis

  • Familial Renal Amyloidosis

  • Amyloidosis Viii

  • Amyloidosis, 3 Or More Types

  • Familial Visceral Amyloidosis

  • Familial Amyloid Nephropathy

  • Hereditary Amyloid Nephropathy

  • Amyloidosis, Familial Renal

  • Amyloidosis, Systemic Nonneuropathic

  • Amyloidosis Familial Visceral

  • Amyloidosis 8

  • Amyloidosis, Ostertag Type

  • Hereditary Amyloidosis With Primary Renal Involvement

  • Hereditary Renal Amyloidosis

  • Renal Amyloidosis

  • Amyloidosis, Renal

  • Systemic Nonneuropathic Amyloidosis

  • Amyloidosis Familial Renal

  • Amyloidosis Systemic Nonneuropathic

  • Hereditary Amyloidosis With Primary Renal Involement

  • AMYL8

  • Systemic Non-Neuropathic Amyloidosis

  • Amyloid Nephropathy

Schizophrenia 1
  • SCZD1

  • Schizophrenia Susceptibility Locus, Chromosome 5-Related

  • Schizophrenia 1 With Or Without An Affective Disorder

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
Bos taurus AK3 VGNC VGNC:25772
Mus musculus AK3 MGD MGI:1860835
Macaca mulatta AK3 VGNC VGNC:69623
Felis catus AK3 VGNC VGNC:102897
Rattus norvegicus AK3 RGD RGD:619885
Others AK3 NCBI