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FLASH GENE

Symbol

TUBGCP6

contributors: mct/npt - updated : 11-12-2020

HGNC name	tubulin, gamma complex associated protein 6
HGNC id	18127

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	MCCRP1 microcephaly and chorioretinopathy, autosomal recessive, 1
Location	22q13.33      Physical location : 50.656.117 - 50.683.400
Synonym name	gamma-tubulin complex component 6
Synonym symbol(s)	GCP6, KIAA1669, DJ402G11.6, GCP-6, MCCRP, MCCRP1, MCPHCR

DNA

TYPE	functioning gene
STRUCTURE	27.33 kb     25 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_020461 25 - 6066 NP_065194 200.4 1819 - 2012 22302995

EXPRESSION

Type

widely

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 Endocrine neuroendocrine pituitary     highly Nervous plexus choroid       highly

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

an hydrophobic motif is present in the N-terminus

HOMOLOGY

Homologene

FAMILY

GCP family

CATEGORY

regulatory

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm,cytosolic
	intracellular,cytoplasm,cytoskeleton,microtubule,centrosome
	intracellular,cytoplasm,cytoskeleton,microtubule,mitotic spindle
text	apical in normal enterocytes (Oriolo 2007)

basic FUNCTION	necessary for microtublule nucleation at the centrosome
	participates in the attachment of microtubule-organizing centers to intermediate filaments in epithelial cells and is among the factors that determine the peculiar architecture of microtubules in polarized epithelia (Oriolo 2007)
	TUBGCP6 is a target of PLK4 in centriole biogenesis

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	TUBGCP6 interacts with and is phosphorylated by PLK4
	recognition of gamma-tubulin ring complex integrity is mediated by MZT1, which binds not only to the TUBGCP3 subunit as previously shown, but cooperatively also to other GCPs through a conserved hydrophobic motif present in the N-termini of TUBGCP2, TUBGCP3, TUBGCP5 and TUBGCP6
	defective synthesis of mature TUBGCP6 protein is a contributor to the failure of centriole biogenesis in cells lacking WBP11 and SNW1

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

MCCRP1

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS