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FLASH GENE

Symbol

AKAP6

contributors: mct - updated : 21-11-2018

HGNC name	a kinase (PRKA) anchor protein 6
HGNC id	376

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	functioning gene
STRUCTURE	503.75 kb     14 Exon(s)

10 Kb 5' upstream gene genomic sequence study

regulatory sequence	Promoter
text structure	MYOG binds to an E-box site on the AKAP6 promoter

MAPPING

cloned

Y

linked

N

status

confirmed

Map	cen - D14S1060 - AKAP6 - D14S70 - qter
Authors	GeneMap (98)

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed AKAP6 14 - 10411 256.6 2319 - -

EXPRESSION

Type

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         Digestive pharynx       moderately Endocrine thyroid       highly Nervous brain       highly   nerve       predominantly Reproductive male system testis     moderately

tissue

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

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	two spectrin repeats
	a C-terminal RII-alpha binding site

secondary structure

an amphipathic helix binding domain

HOMOLOGY

interspecies	homolog to rattus Akap6 (80 pc)
	homolog to murine Akap6 (81.5 pc)

Homologene

FAMILY

CATEGORY

adaptor , chaperone/stress

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,endoplasmic reticulum
	intracellular,nucleus
	intracellular,nuclear envelope
text	sarcoplasmic reticulum

basic FUNCTION	a kinase (PRKA regulatory subunit RIIA), anchor protein tethering the enzyme near its physiological substrate
	AKAP6 is an important regulator of myoblast differentiation, myotube formation, and muscle regeneration

CELLULAR PROCESS

cell organization/biogenesis

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

signal transduction

a component	anchoring/targeting type II regulatory subunits of protein kinase A to the nuclear membrane or sarcoplasmic reticulum
	may act as an adapter for assembling multiprotein complexes

INTERACTION

DNA

RNA

small molecule

protein	interacting with type II regulatory subunits of protein kinase A (RII subunit of PKA)
	interacting with phosphatase 2B (calcineurin)
	interacting with AKAP79
	AKAP6 promotes MYOG expression through myocyte enhancer factor 2A (MEF2A)

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

DEL14QP

Susceptibility

Variant & Polymorphism

Candidate gene	cardiac abnormalities
Marker
Therapy target

ANIMAL & CELL MODELS