Adenylate kinase isoenzyme 1 - Homo sapiens (Human)

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Reviewed, UniProtKB/Swiss-Prot P00568 (KAD1_HUMAN)

Last modified November 25, 2008. Version 99. History...

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Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Binary interactions · Sequence annotation (Features) · Sequences · References · Web resources · Cross-references · Entry information · Relevant documents

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Names and origin

Protein names

Recommended name:
    Adenylate kinase isoenzyme 1
      Short name=AK 1
    EC=2.7.4.3
Alternative name(s):
    ATP-AMP transphosphorylase 1
    Myokinase

Gene names

Name:

AK1

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

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Protein attributes

Sequence length	194 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is not processed.
Protein existence	Evidence at protein level.

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General annotation (Comments)

Function	This small ubiquitous enzyme is essential for maintenance and cell growth.
Catalytic activity	ATP + AMP = 2 ADP.
Subunit structure	Monomer.
Subcellular location	Cytoplasm.
Polymorphism	This enzyme represents the most common of at least five alleles.
Involvement in disease	Defects in AK1 are the cause of a form of hemolytic anemia [MIM:103000].
Sequence similarities	Belongs to the adenylate kinase family.

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Ontologies

Keywords
Cellular component	Cytoplasm
Coding sequence diversity	Polymorphism
Disease	Disease mutation
Ligand	ATP-binding Nucleotide-binding
Molecular function	Kinase Transferase
PTM	Acetylation
Technical term	3D-structure Direct protein sequencing
Gene Ontology (GO)
Biological process	ATP metabolic process Inferred from electronic annotation. Source: InterPro
Cellular component	cytosol Ref.2 Inferred from Experiment. Source: Reactome nucleus Inferred from direct assay. Source: HPA
Molecular function	ATP binding Inferred from electronic annotation. Source: InterPro adenylate kinase activity Ref.2 Traceable author statement. Source: ProtInc nucleoside kinase activity Ref.2 Inferred from Experiment. Source: Reactome protein binding Inferred from physical interaction. Source: IntAct
Complete GO annotation...

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Binary interactions

With	Entry	#Exp.	IntAct	Notes
MLL3	Q8NEZ4	1	EBI-1044943,EBI-1042997

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Sequence annotation (Features)

Feature key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Chain

1 – 194

194

Adenylate kinase isoenzyme 1

PRO_0000158910

Regions

Nucleotide binding

15 – 23

ATP By similarity

Sites

Active site

Amino acid modifications

Modified residue

N-acetylmethionine

Natural variations

Natural variant

123

E → Q: dbSNP rs8192462.

VAR_034046

Natural variant

128

R → W in hemolytic anemia.

VAR_004021

Experimental info

Sequence conflict

K → N in AAH01116. Ref.5

Sequence conflict

127

Q → R AA sequence Ref.1

Sequence conflict

181

S → E AA sequence Ref.1

Secondary structure

194

Helix Strand Turn

Details...

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Sequences

Sequence

Length

Mass (Da)

Tools

P00568-1 [UniParc].

Last modified April 16, 2002. Version 3.
Checksum: 95EC5AAA92D1F00F
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FASTA

194

21,635

        10         20         30         40         50         60 
MEEKLKKTKI IFVVGGPGSG KGTQCEKIVQ KYGYTHLSTG DLLRSEVSSG SARGKKLSEI 

        70         80         90        100        110        120 
MEKGQLVPLE TVLDMLRDAM VAKVNTSKGF LIDGYPREVQ QGEEFERRIG QPTLLLYVDA 

       130        140        150        160        170        180 
GPETMTQRLL KRGETSGRVD DNEETIKKRL ETYYKATEPV IAFYEKRGIV RKVNAEGSVD 

       190 
SVFSQVCTHL DALK

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References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Primary and tertiary structure of the principal human adenylate kinase." von Zabern I., Wittmann-Liebold B., Untucht-Grau R., Schirmer R.H., Pai E.F. Eur. J. Biochem. 68:281-290(1976) [PubMed: 183954] [Abstract] Cited for: PROTEIN SEQUENCE. Tissue: Skeletal muscle.
[2]	"Human adenylate kinase deficiency associated with hemolytic anemia. A single base substitution affecting solubility and catalytic activity of the cytosolic adenylate kinase." Matsuura S., Igarashi M., Tanizawa Y., Yamada M., Kishi F., Kajii T., Fujii H., Miwa S., Sakurai M., Nakazawa A. J. Biol. Chem. 264:10148-10155(1989) [PubMed: 2542324] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT TRP-128.
[3]	Noma T. Submitted (DEC-1998) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA]. Tissue: Retina.
[4]	"Cloning of human full-length CDSs in BD Creator(TM) system donor vector." Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S., Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y., Phelan M., Farmer A. Submitted (MAY-2003) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
[5]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Colon.
+	Additional computationally mapped references.

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Web resources

Wikipedia

Adenylate kinase entry

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Cross-references

Sequence databases

J04809 Genomic DNA. Translation: AAA51686.1.
AB021871 mRNA. Translation: BAA78534.1.
BT019580 mRNA. Translation: AAV38387.1.
BC001116 mRNA. Translation: AAH01116.1.

PIR

KIHUA. A33508.

RefSeq

NP_000467.1.

UniGene

Hs.175473

3D structure databases

Entry	Method	Resolution (Å)	Chain	Positions	PDBsum
1Z83	X-ray	1.90	A/B/C	1-193	[»]
2C95	X-ray	1.71	A/B	1-193	[»]

ModBase

Search...

Protein-protein interaction databases

IntAct

P00568.

2-D gel databases

OGP

P00568.

REPRODUCTION-2DPAGE

IPI00018342.

Genome annotation databases

Ensembl

ENSG00000106992. Homo sapiens. [Contig view]

GeneID

203.

KEGG

hsa:203.

Organism-specific databases

H-InvDB

HIX0008412.

HGNC

HGNC:361. AK1.

HPA

CAB009893.
HPA006456.

MIM

103000. gene+phenotype.

Orphanet

86817. Haemolytic anaemia due to adenylate kinase deficiency.

PharmGKB

PA134990616.

GenAtlas

Search...

GeneCards

Search...

Phylogenomic databases

HOVERGEN

P00568.

Enzyme and pathway databases

Reactome

REACT_1698. Nucleotide metabolism.

Gene expression databases

ArrayExpress

P00568.

CleanEx

HS_AK1.

GermOnline

ENSG00000106992. Homo sapiens.

Family and domain databases

InterPro

IPR000850. Adenylate_kin.
IPR006267. Adenylate_kin1.
[Graphical view]

PANTHER

PTHR23359. Adenylate_kin. 1 hit.

Pfam

PF00406. ADK. 1 hit.
[Graphical view]

PRINTS

PR00094. ADENYLTKNASE.

ProDom

PD000657. Adenylate_kin. 1 hit.
[Graphical view] [Entries sharing at least one domain]

TIGRFAMs

TIGR01360. aden_kin_iso1. 1 hit.

PROSITE

PS00113. ADENYLATE_KINASE. 1 hit.
[Graphical view]

ProtoNet

Search...

Other Resources

NextBio

808.

SOURCE

Search...

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Entry information

Entry name

KAD1_HUMAN

Accession

Primary (citable) accession number: P00568
Secondary accession number(s): Q9BVK9, Q9UQC7

Entry history

Integrated into UniProtKB/Swiss-Prot:	July 21, 1986
Last sequence update:	April 16, 2002
Last modified:	November 25, 2008
This is version 99 of the entry and version 3 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)

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Relevant documents

Human chromosome 9

Human chromosome 9: entries, gene names and cross-references to MIM

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

PDB cross-references

Index of Protein Data Bank (PDB) cross-references

SIMILARITY comments

Index of protein domains and families

Names and origin

Protein attributes

General annotation (Comments)

Ontologies

Keywords

Gene Ontology (GO)

Binary interactions

With

Entry

#Exp.

IntAct

Notes

Sequence annotation (Features)

Molecule processing

Regions

Sites

Amino acid modifications

Natural variations

Experimental info

Secondary structure

Sequences

References

Web resources

Cross-references

Sequence databases

3D structure databases

Protein-protein interaction databases

2-D gel databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Enzyme and pathway databases

Gene expression databases

Family and domain databases

Other Resources

Entry information

Relevant documents