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FLASH GENE

Symbol

TMED10

contributors: mct - updated : 23-02-2010

HGNC name	transmembrane emp24-like trafficking protein 10 (yeast)
HGNC id	16998

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	14q24.3      Physical location : 75.598.170 - 75.643.349
Synonym name	21kDa transmembrane trafficking protein
	multimeric protein with a serine protease domain
Synonym symbol(s)	P24(DELTA), S31III125, S31I125, TMP21, TMP21-I, p23 TMP21

DNA

TYPE	functioning gene
STRUCTURE	45.18 kb     5 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_006827 5 - 4163 NP_006818 23 219 - 2009 19710022

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 intestine small intestine     highly Nervous nerve

cells

System Cell Pubmed Species Stage Rna symbol Nervous neuron

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

embryo

Text	in the brain is high during embryonic development and then declines after birth

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a serine protease domain
	a scavenger cysteine-rich domain
	a LDL receptor class A domain
	a GOLD domain
	a transmembrane domain promoting its association with the presenilin complex that results in decreased gamma-cleavage activity

conjugated

GlycoP

mono polymer

complex

HOMOLOGY

interspecies	homolog to yeast S.cerevisiae Emp24p
	homolog to murine Tmed10 (92.2pc)
	homolog to rattus TMP21 (92.7pc)

Homologene

FAMILY

EMP24/GP25L family

CATEGORY

transport carrier

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm,organelle,lumen
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,organelle,endoplasmic reticulum
	intracellular,cytoplasm,organelle,Golgi
	intracellular,cytoplasm,cytosolic,microsome
text	type I membrane protein; golgi cisternae

basic FUNCTION	involved in vescular protein trafficking
	differentially regulating gamma-secretase cleavage without affecting epsilon-secretase activity
	transmembrane protein involved in endoplasmic reticulum/Golgi transpor
	member of the p24 cargo-protein family that is involved in vesicular targeting and protein transport
	presenilin complex component that modulates gamma- but not epsilon-secretase activities
	behaves as a regulator of gamma- but not epsilon-cleavages generated by presenilin-dependent gamma-secretase complex

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

cellular trafficking transport

PATHWAY

metabolism

signaling

a component

component of presenilin complexes

INTERACTION

DNA

RNA

small molecule

protein	associates with gamma-secretase, and negatively regulates beta-amyloid production
	interact with presenilin complexes

cell & other

REGULATION

Other

degradation of TMED10, as with the other presenilin-associated gamma-secretase complex members, is mediated by the ubiquitin-proteasome pathway

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --low   in the brains of individuals with AD

Susceptibility

Variant & Polymorphism

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed immunology infectious   ability of the TMED10 peptide to alter APP processing and Abeta production could represent a novel strategy for modulating amyloid production and its subsequent pathology

ANIMAL & CELL MODELS