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FLASH GENE

Symbol

SDCCAG8

contributors: mct/npt/pgu - updated : 21-12-2018

HGNC name	serologically defined colon cancer antigen 8
HGNC id	10671

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	BBS16 Bardet-Biedl syndrome, locus 16 SLSN7 Senior-Loken syndrome 7
Location	1q43      Physical location : 243.419.319 - 243.663.392
Synonym name	antigen NY-CO-8
	centrosomal colon cancer autoantigen
Synonym symbol(s)	NY-CO-8, CCCAP, HSPC085, BBS16, CCCAP SLSN7, SLSN7, hCCCAP

DNA

TYPE	functioning gene
STRUCTURE	248.27 kb     18 Exon(s)

Genomic sequence alignment details
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_006642 18 - 2614 NP_006633 82.7 713 - 2003 12559564 NM_001350251 21 - 3104 NP_001337180 - 412 - 2003 12559564 NM_001350248 19 - 2730 NP_001337177 - 745 - 2003 12559564 NM_001350246 20 - 2843 NP_001337175 - 412 - 2003 12559564 NM_001350247 19 - 2731 NP_001337176 - 412 - 2003 12559564

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 Digestive intestine large intestine       Visual eye retina       Homo sapiens

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial barrier lining retinal pigment epithelium (RPE)     Homo sapiens

cells

System Cell Pubmed Species Stage Rna symbol Visual cone photoreceptor Homo sapiens Visual rod photoreceptor Homo sapiens

cell lineage
cell lines	various cancer
fluid/secretion	serum

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	N-terminal globular domain
	a nuclear localization signal
	eight putative coiled-coil domains
	C-terminal portion identical to the human colon cancer autoantigen NY-CO-8

HOMOLOGY

Homologene

FAMILY

CATEGORY

antigen

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,cytosolic
	intracellular,cytoplasm,cytoskeleton,microtubule,centrosome
text	centrosomal localization during interphase and mitosis
	localized at both centrioles
	located at the distal ends of both centrioles and colocalizes to centrosomes throughout the cell cycle together with other proteins that are disrupted in nephronophthisis-related ciliopathies

basic FUNCTION	translocates away from cell-cell junctions in response to increased intracellular cAMP
	critical role for SDCCAG8 in controlling centrosomal properties and function
	requirement of SDCCAG8 for ciliogenesis and HH signaling

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	interacts directly with OFD1 (C-terminal OFD1 region, which contains the last two out of six predicted coiled-coil motifs (amino acids 615-1012) bound to the C-terminal region of SDCCAG8 (amino acids 533-713), which also contains two predicted coiled-coil motifs)
	direct interaction of FAM161A with lebercilin (LCA5), CEP290, OFD1 and SDCCAG8, all involved in hereditary retinal degeneration
	SDCCAG8 interacts and cotraffics with pericentriolar material 1 (PCM1), a centriolar satellite protein crucial for targeting proteins to the centrosome
	SDCCAG8 interacts with proteins of the centriolar satellites (OFD1, CEP131), of the endosomal sorting complex (RABEP2, ERC1), and with non-muscle myosin motor proteins (MYH9, MYH10, MYH14) at the centrosome
	RABEP2 localization at the centrosome is regulated by SDCCAG8

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

SLSN7 , BBS16

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS