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FLASH GENE

Symbol

MUC17

contributors: mct - updated : 20-08-2010

HGNC name	mucin 17, cell surface associated
HGNC id	16800

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	7q22.1      Physical location : 100.663.363 - 100.702.140
Synonym name	intestinal membrane mucin MUC17
	mucin 17
	small intestinal mucin-3
	secreted mucin MUC17
Synonym symbol(s)	MUC3, MUC-17

DNA

TYPE	functioning gene
SPECIAL FEATURE	component of a cluster
text	clustered with MUC3B, MUC12, MUC3A
STRUCTURE	38.78 kb     13 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_001040105 13 - 14360 NP_001035194 451.7 4493 - 2008 17990980

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 Digestive intestine large intestine colon   highly   stomach       predominantly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial absorptive excretory digestive epithelium (mucosa)   highly

cells

System Cell Pubmed Species Stage Rna symbol Digestive enterocyte

cell lineage
cell lines	colon and pancreatic cancer
fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	extended, repetitive extracellular glycosylation domain,
	extracellular regions with two EGF-like Cys-rich domains (CRD1 and CRD2) connected by an intervening linker segment with SEA module (L), that may function to stimulate intestinal cell restitution
	a SEA module domain
	a transmembrane domain
	a cytoplasmic domain with potential serine and tyrosine phosphorylation sites

conjugated

GlycoP , PhosphoP

HOMOLOGY

interspecies

homolog to murine Muc3

Homologene

FAMILY

CATEGORY

receptor membrane

SUBCELLULAR LOCALIZATION	extracellular
	plasma membrane

basic FUNCTION	extracellular matrix constituent, lubricant activity
	both native MUC17 and the exogenous recombinant cysteine-rich domain of MUC17 play a role in diverse cellular mechanisms related to cell restitution

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

signal transduction

a component

INTERACTION

DNA

RNA

small molecule

protein

exhibited a strong binding to PDZK1 (PDZK1 plays a specific role in stabilizing MUC17 in the apical membrane of small intestinal enterocytes)

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --low   in colonic mucosa of chronic ulcerative colitis and ischaemic colitis tumoral     --low   decreased in hyperplastic polyps, tubular and tubulovillous adenomas and colon cancers

Susceptibility

Variant & Polymorphism

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed immunology autoimmune digestive potential role for MUC17-CRD1-L-CRD2 recombinant protein in the treatment of mucosal inflammatory diseases

ANIMAL & CELL MODELS