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FLASH GENE

Symbol

DSCAML1

contributors: mct - updated : 07-12-2011

HGNC name	Down syndrome cell adhesion molecule like 1
HGNC id	14656

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	11q23.3      Physical location : 117.298.488 - 117.667.976
Synonym name	Down syndrome cell adhesion molecule 2
Synonym symbol(s)	KIAA1132, DSCAM2

DNA

TYPE	functioning gene
STRUCTURE	369.49 kb     33 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_020693 33 - 6899 - 2113 - 2002 12051741

EXPRESSION

Type

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 liver       moderately Endocrine pancreas       moderately Nervous brain hindbrain cerebellum   highly   brain diencephalon hypothalamus   highly Respiratory lung       moderately Urinary kidney       moderately

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial secretory glandular endocrine   Epithelial secretory glandular exocrine   Nervous central       Nervous peripherous

cells

System Cell Pubmed Species Stage Rna symbol nervous brain nervous cerebellum Nervous neuron

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

fetal

Text	developing spinal cord, cortex

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	ten immunoglobulin domains
	six fibronectin three domains
	one extracellular domain

HOMOLOGY

interspecies

homolog to murine Dscaml1

Homologene

FAMILY

CATEGORY

regulatory

SUBCELLULAR LOCALIZATION

plasma membrane

basic FUNCTION	involved in the formation and maintenance of neural networks
	DSCAM and DSCAM-LIKE1 (DSCAML1) serve diverse neurodevelopmental functions, including axon guidance, synaptic adhesion, and self-avoidance

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

nervous system

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

mice lacking Dscaml1 had fasciculated rod bipolar cell dendrites and clumped AII amacrine cell bodies, also indicating a role in self-avoidance