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FLASH GENE

Symbol

RAB33B

contributors: mct - updated : 26-08-2013

HGNC name	RAB33B, member RAS oncogene family
HGNC id	16075

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	SMCD2 Smith-McCort dysplasia 2
Location	4q31.1      Physical location : 140.374.960 - 140.397.063
Synonym name	Ras-related protein Rab-33B
Synonym symbol(s)	DKFZP434G099, MGC138182, SMC2

DNA

TYPE	functioning gene
STRUCTURE	22.11 kb     2 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_031296 2 - 3876 NP_112586 25.6 229 - 2001 11718716

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 Digestive liver         Endocrine pancreas         Nervous brain         Urinary kidney

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Blood / Hematopoietic bone marrow       Connective bone       Epithelial secretory glandular endocrine   Epithelial secretory glandular exocrine

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

conjugated

LipoP , Other

HOMOLOGY

interspecies

homolog to murine Rab33b

intraspecies

homolog to RAB33A

Homologene

FAMILY	small GTPase superfamily
	RAS oncogene family

CATEGORY

protooncogene

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,lumen
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,organelle,Golgi
text	associated with the golgi apparatus (medial Golgi cisternae)

basic FUNCTION	involved in vesicular traffic
	playing a role in intra-Golgi transport
	modulates autophagosome formation through interaction with ATG16L1
	RAB33B/RAB6A regulated intra-Golgi retrograde trafficking pathway must coexist with other Golgi trafficking pathways

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

cellular trafficking transport

text	protein transport

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule	nucleotide,
	GTP

protein	RAB33B (and RAB33A) specifically interacts with ATG16L1, an essential factor in isolation membrane formation, in a guanosine triphosphate-dependent manner
	RAB33B and RAB6A act to coordinate a major intra-Golgi retrograde trafficking pathway
	target substrate of TBC1D25 and is involved in the fusion between autophagosomes and lysosomes, the same as TBC1D25

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

SMCD2

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS