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FLASH GENE

Symbol

CKM

contributors: npt/mct - updated : 30-08-2010

HGNC name	creatine kinase, muscle
HGNC id	1994

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	19q13.32      Physical location : 45.809.671 - 45.826.233
Synonym name	creatine kinase-M
Synonym symbol(s)	CKMM, M-CK, MCK, MM-CK
EC.number	2.7.3.2

DNA

TYPE	functioning gene
STRUCTURE	16.46 kb     8 Exon(s)

10 Kb 5' upstream gene genomic sequence study

regulatory sequence	Promoter
	cytosine-phosphate-guanine/HTF
	Binding site   enhancer   transcription factor
text structure	a conserved CArG site, an E box, and a GC-rich MPEX site, and the last two elements contribute to expression in both types of striated muscle
	three CACCC boxes within the CKM enhancer and two flanking the MPEX sequence, and KLF3 binds positive elements in the MCK promoter (MPEX and CACCC boxes)

MAPPING

cloned

Y

linked

Y

status

confirmed

RNA

TRANSCRIPTS	type	messenger

text	major isoform ma expressed in skeletal muscle, mb isoform expressed predominantly in cardiac muscle

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001824 8 - 1620 NP_001815 43 381 - Hamburg (1990)

EXPRESSION

Rna function	in both heart and brain but not placenta (Hamburg1990)
Type	restricted

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Cardiovascular heart       highly Digestive liver       moderately Nervous brain       moderately Respiratory respiratory tract larynx     moderately

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Muscular striatum cardiac     Muscular striatum skeletal   highly

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

mono polymer

homomer , heteromer , dimer

HOMOLOGY

interspecies	ortholog to rattus Ckm
	ortholog to murine Ckm
	homolog to zebrafish ckm

Homologene

FAMILY

atp:guanido phosphotransferase family

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,cytosolic
text	restricted to terminally differentiated striated muscle

basic FUNCTION	reversibly catalyzing the transfer of phosphate between ATP and various phosphogens (e.g. creatine phosphate)
	playing a central role in energy transduction in tissues with large, fluctuating energy demands, such as skeletal muscle, heart, brain and spermatozoa
	being an important serum marker for myocardial infarction
	catalyzes the reversible transfer of the gamma phosphate from ATP to creatine forming the high energy compound creatine phosphate (Nuss 2009)

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

text	energy homeostasis

PATHWAY

metabolism

energetic

signaling

a component	homodimerizing or heterodimerizing with CKB
	(M and B are the type of subunit)
	MM being the major form in skeletal muscle and myocardium
	MB existing in myocardium
	BB existing in many tissues, especially brain

INTERACTION

DNA

RNA

small molecule	nucleotide,
	ATP

protein	interacting with KLF3 (likely that KLF3 serves as a positive regulator of muscle gene transcription)
	physically interact with the slow skeletal muscle-type MYBPC1 (CKM binds to the C-terminal domains of MYBPC1, which is also the binding site of myosin)

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --low   with Jun-D, myogenin, myosin, in muscle wasting of human cachexia (Ramamoorthy 2009) constitutional     --low   early down-regulation plays a major role in actin filament instability

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS