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FLASH GENE

Symbol

KANK1

contributors: mct/npt - updated : 19-12-2009

HGNC name	KN motif and ankyrin repeat domains 1
HGNC id	19309

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	FCPAL familial congenital cerebral palsy
Location	9p24.3      Physical location : 504.702 - 746.103
Synonym name	ankyrin 3 long form
	kidney ankyrin repeat-containing protein
	ankyrin repeat domain 15
Synonym symbol(s)	KIAA0172, KANK, ANKRD15, DKFZp451G231, MGC43128

DNA

TYPE	functioning gene
STRUCTURE	241.40 kb     12 Exon(s)

MAPPING

cloned

Y

linked

N

status

confirmed

RNA

TRANSCRIPTS	type	messenger

text	two alternatively spliced transcript variants encoding the same isoform

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_153186 11 splicing 5263 NP_694856 - 1194 in kidney cancer cell Sarkar, Zhu (2008) also called KANKS NM_015158 12 splicing 5083 NP_055973 - 1352 - Sarkar, Wang, Zhu (2008) also called KANKL having an additional N-terminal sequence 158 amino acids long

EXPRESSION

Type	ubiquitous

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 Respiratory respiratory tract larynx     highly Skin/Tegument skin       highly

tissue

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

cell lineage

cell lines

fluid/secretion

at STAGE

IMPRINTING	maternally
text	in familial cerebral palsy

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	conserved motif at the N-terminal (KN motif) containing potential motifs for nuclear localization and export signals (Zhu 2008)
	four ankyrin repeat domains in its C-terminus
	an ankyrin-repeat domain interacts with the third and fourth coiled-coil domains of KIF21A (Kakinuma 2009)

HOMOLOGY

Homologene

FAMILY

Kank family

CATEGORY

structural protein

SUBCELLULAR LOCALIZATION	extracellular
	plasma membrane
	intracellular
	intracellular,cytoplasm,cytosolic
text	predominantly occurring in the cytosolic fraction, while KIF21A slightly enhanced the translocation of KANK1 to the membrane fraction (Kakinuma 2009)

basic FUNCTION	ankyrin repeat domain-containing protein which regulates actin polymerization
	suggesting a role in tumorigenesis of renal cell carcinoma
	all of these family proteins have an identical role in the formation of actin stress fibers (Zhu 2008)
	inhibited the activation of RhoA through PI3K/Akt/14-3-3 signaling (Kakinuma 2009)
	negatively regulates the formation of lamellipodia by inhibiting the interaction between Rac1 and BAIAP2) (Roy 2009)

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

interaction with KIF21A (Kakinuma 2009)

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

FCPAL

Susceptibility

Variant & Polymorphism

Candidate gene
Marker
Therapy target	could be a therapeutic target in FEOM1 (Kakinuma 2009)

ANIMAL & CELL MODELS