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FLASH GENE

Symbol

VPS13B

contributors: mct - updated : 14-11-2012

HGNC name	vacuolar protein sorting 13 homolog B (yeast)
HGNC id	2183

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	functioning gene
STRUCTURE	864.31 kb     62 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_015243 18 - 2822 NP_056058 - 863 - 2008 18655112 isoform 3 including an alternates (exon 28 and 28b) NM_017890 62 - 14111 NP_060360 448.7 4022 - 2008 18655112 isoform 5 skipping of exon 27 and 28b NM_152564 62 - 14036 NP_689777 - 3997 - 2008 18655112 isoform 1 exons 1 to 62 NM_181661 8 - 1634 NP_858047 - 415 - 2008 18655112 isoform 4 lack of exon 28 and 28b

EXPRESSION

Type	restricted

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 vessel         Digestive mouth tongue       Reproductive female system breast mammary gland   highly Respiratory respiratory tract larynx     highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Blood / Hematopoietic bone marrow       Muscular striatum skeletal

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

a C-terminal fragment of 315 aa involved in the localization to the Golgi (important role of the VPS13B in Golgi maintenance)

HOMOLOGY

interspecies

homolog to murine Vps13b

Homologene

FAMILY

VPS13 family

CATEGORY

regulatory

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,organelle,Golgi
text	peripheral Golgi membrane protein, overlapping with the cis-Golgi matrix protein GOLGA2

basic FUNCTION	may be involved in vesicle-mediated sorting and intracellular protein transport
	may be playing a role in the development and the function of the eye, hematological system, and central nervous system
	Golgi-associated matrix protein required for Golgi integrity
	peripheral protein required for Golgi maintenance and loss of Golgi integrity contributes to the pathology of Cohen syndrome

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule	metal binding,
	zn2+

protein

peripheral Golgi membrane protein that strongly co-localizes with the cis-Golgi matrix protein GOLGA2

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

COH1

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS