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FLASH GENE

Symbol

SMOC1

contributors: mct - updated : 05-02-2011

HGNC name	SPARC related modular calcium binding 1
HGNC id	20318

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	OPACS2 ophthalmo-acromelic syndrome 2
Location	14q24.1      Physical location : 70.346.142 - 70.499.083
Synonym name	secreted modular calcium-binding protein 1

DNA

TYPE	functioning gene
STRUCTURE	152.94 kb     12 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_001034852 12 - 3684 NP_001030024 48.3 435 - 2002 12130637 NM_02213 12 - 3681 NP_071420 48.2 434 - 2002 12130637

EXPRESSION

Type

widely

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 heart         Digestive liver         Lymphoid/Immune thymus         Nervous brain         Reproductive female system ovary     highly Homo sapiens Urinary kidney         Homo sapiens Visual eye         Homo sapiens

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Blood / hematopoietic bone marrow       Homo sapiens Connective bone       Homo sapiens Membrane basement membrane       Homo sapiens Muscular striatum skeletal     Homo sapiens

cells

System Cell Pubmed Species Stage Rna symbol Reproductive oocyte Homo sapiens Skeleton osteoblast Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

fetal

Text

brain

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a follistatin-like domain
	a SMOC domain
	two thyroglobulin-like domains
	one extracellular calcium binding domain with two EF-hand motifs
	three potential N-glycosylation sites

conjugated

GlycoP

HOMOLOGY

interspecies

homolog to murine Smoc1

Homologene

FAMILY

SPARC family

CATEGORY

regulatory

SUBCELLULAR LOCALIZATION	extracellular
text	extracellular matrix

basic FUNCTION	with SMOC2 are matricellular proteins thought to influence growth factor signaling, migration, proliferation, and angiogenesis
	may mediate intercellular signaling and cell type-specific differentiation during gonad and reproductive tract development
	regulator of osteoblast differentiation of bone marrow derived mesenchymal stem cells
	essential player in both ocular and limb development and give further support to the crucial roles of BMP signaling in these systems

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule	metal binding,
	Ca2+ binding

protein

cell & other

REGULATION

Other

calcium-dependent conformation

ASSOCIATED DISORDERS

corresponding disease(s)

OPACS2

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

Smoc1 null mice recapitulated MLA phenotypes, including aplasia or hypoplasia of optic nerves, hypoplastic fibula and bowed tibia, and syndactyly in limbs