InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: AK2

Summary

InnateDB Protein

IDBP-95859.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

AK2

Protein Name

adenylate kinase 2

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000346921

InnateDB Gene

IDBG-95855 (AK2)

Protein Structure

UniProt Annotation

Function

Catalyzes the reversible transfer of the terminal phosphate group between ATP and AMP. Plays an important role in cellular energy homeostasis and in adenine nucleotide metabolism. Adenylate kinase activity is critical for regulation of the phosphate utilization and the AMP de novo biosynthesis pathways. Plays a key role in hematopoiesis. {ECO:0000255HAMAP- Rule:MF_03168, ECO:0000269PubMed:19043416}.

Subcellular Localization

Mitochondrion intermembrane space.

Disease Associations

Reticular dysgenesis (RDYS) [MIM:267500]: Most severe form of inborn severe combined immunodeficiencies (SCID) and is characterized by absence of granulocytes and almost complete deficiency of lymphocytes in peripheral blood, hypoplasia of the thymus and secondary lymphoid organs, and lack of innate and adaptive humoral and cellular immune functions, leading to fatal septicemia within days after birth. In bone marrow of individuals with reticular dysgenesis, myeloid differentiation is blocked at the promyelocytic stage, whereas erythro- and megakaryocytic maturation is generally normal. In addition, affected newborns have bilateral sensorineural deafness. Defects may be due to its absence in leukocytes and inner ear, in which its absence can not be compensated by AK1. {ECO:0000269PubMed:19043416, ECO:0000269PubMed:19043417}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Present in most tissues. Present at high level in heart, liver and kidney, and at low level in brain, skeletal muscle and skin. Present in thrombocytes but not in erythrocytes, which lack mitochondria. Present in all nucleated cell populations from blood, while AK1 is mostly absent. In spleen and lymph nodes, mononuclear cells lack AK1, whereas AK2 is readily detectable. These results indicate that leukocytes may be susceptible to defects caused by the lack of AK2, as they do not express AK1 in sufficient amounts to compensate for the AK2 functional deficits (at protein level). {ECO:0000269PubMed:19043417}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 20 experimentally validated interaction(s) in this database.

Experimentally validated
Total	20 [view]
Protein-Protein	18 [view]
Protein-DNA	2 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004017	adenylate kinase activity
GO:0005524	ATP binding
GO:0016776	phosphotransferase activity, phosphate group as acceptor
GO:0019205	nucleobase-containing compound kinase activity

Biological Process

GO:0001889	liver development
GO:0006119	oxidative phosphorylation
GO:0006172	ADP biosynthetic process
GO:0007420	brain development
GO:0015949	nucleobase-containing small molecule interconversion
GO:0044281	small molecule metabolic process
GO:0046033	AMP metabolic process
GO:0046034	ATP metabolic process
GO:0046060	dATP metabolic process
GO:0046939	nucleotide phosphorylation
GO:0055086	nucleobase-containing small molecule metabolic process
GO:0097066	response to thyroid hormone

Cellular Component

GO:0005739	mitochondrion
GO:0005743	mitochondrial inner membrane
GO:0005758	mitochondrial intermembrane space
GO:0005829	cytosol
GO:0036126	sperm flagellum
GO:0070062	extracellular vesicular exosome
GO:0097226	sperm mitochondrial sheath

Protein Structure and Domains

PDB ID

InterPro

IPR000850 Adenylate kinase/UMP-CMP kinase
IPR006259 Adenylate kinase subfamily
IPR007862 Adenylate kinase, active site lid domain
IPR027417 P-loop containing nucleoside triphosphate hydrolase

PFAM

PF05191

PRINTS

PR00094

PIRSF

SMART

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

P54819