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FLASH GENE
Symbol MFAP1 contributors: - updated : 01-06-2005
HGNC name microfibrillar-associated protein 1
HGNC id 7032
Location 15q15-q21      Physical location : 44.096.732 - 44.116.951
DNA
TYPE functioning gene
STRUCTURE 20.00 kb     9 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked Y status confirmed
regionally located close to FBN1
RNA
TRANSCRIPTS type messenger
EXPRESSION
Type ubiquitous
constitutive of
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestiveesophagus   highly
 stomach   highly
Lymphoid/Immunethymus   highly
Visualeye    
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Connectivecartilage   
Connectivecartilageelastic  
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES acid
STRUCTURE
motifs/domains
glutamic acid-rich
conjugated GlycoP
isoforms Precursor post translationaly cleaved in a 32 kDa fragment
HOMOLOGY
interspecies homolog to murine Mfap1
intraspecies paralog to MFAPs
Homologene
FAMILY
CATEGORY structural protein
SUBCELLULAR LOCALIZATION extracellular
text associated to microfibrils of the extracellular matrix
basic FUNCTION
  • involved in the formation of matrix organization in the dermis
  • CELLULAR PROCESS cell organization/biogenesis
    PHYSIOLOGICAL PROCESS development
    PATHWAY
    metabolism
    signaling
    a component component of the elastin-associated microfibrils
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    ANIMAL & CELL MODELS