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FLASH GENE

Symbol

CCDC28B

contributors: mct - updated : 03-06-2014

HGNC name	coiled-coil domain containing 28B
HGNC id	28163

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	1p35.1      Physical location : 32.666.201 - 32.670.991
Synonym symbol(s)	MGC1203, RP4-622L5.5

DNA

TYPE	functioning gene
STRUCTURE	5.01 kb     6 Exon(s)

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_024296 6 - 895 NP_077272 - 200 - -

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 Cardiovascular heart       highly Lymphoid/Immune lymph node       highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective bone

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

a C-terminal coiled coil domain, a motif typically involved in mediating protein–protein interactions

HOMOLOGY

Homologene

FAMILY

CATEGORY

regulatory

SUBCELLULAR LOCALIZATION	extracellular
	intracellular
	intracellular,cytoplasm,cytoskeleton,microtubule,centrosome
text	pericentriolar protein

basic FUNCTION	pericentriolar protein that interacts and colocalizes with the BBS proteins
	exerting an epistatic effect on the developmental phenotype of BBS
	is a novel protein involved in the process of ciliogenesis whilst providing functional insight into the cellular basis of its modifier effect in BBS patients.
	might regulate ciliary length through its interaction with MAPKAP1 and the regulation of the CRTC2 pathway

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	interacts with different BBS proteins, some of which are part of a macromolecular complex termed the BBSome, which plays a role in ciliogenesis
	interacts with MAPKAP1, a component of the MTOR complex 2 (CRTC2), and this interaction is important both in the context of MTOR signaling
	is a positive regulator of CRTC2, participating in its assembly/stability and modulating its activity, while not affecting MTOR function

cell & other

REGULATION

ASSOCIATED DISORDERS

ANIMAL & CELL MODELS