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FLASH GENE

Symbol

SDK1

contributors: mct - updated : 13-02-2008

HGNC name	sidekick homolog 1, cell adhesion molecule (chicken)
HGNC id	19307

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	functioning gene
STRUCTURE	967.55 kb     45 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_152744 45 - 10397 NP_689957 - 2213 - 2007 17307840

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       highly Lymphoid/Immune spleen       highly Nervous brain hindbrain medulla oblongata     Reproductive male system testis     highly Visual eye uvea choroid       eye retina       Homo sapiens

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial barrier/lining endometrium     Epithelial barrier/lining retinal pigment epithelium (RPE)     Nervous peripherous

cells

System Cell Pubmed Species Stage Rna symbol Nervous optic nerve Skin/Tegument melanocyte Visual amacrine cell Visual bipolar cell Visual cone photoreceptor Homo sapiens Visual ganglion cell

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a signal sequence
	six immunoglobulin C2 motifs
	13 fibronectin type III motifs
	a single transmembrane domain
	an approximately 200-amino acid cytoplasmic domain
	A C-terminal hexapeptide, GFSSFV, predicted to bind PDZ domains

conjugated

GlycoP

HOMOLOGY

interspecies

homolog to drosophila Sdk

Homologene

FAMILY

transmembrane immunoglobulin superfamily

CATEGORY

adhesion , regulatory

SUBCELLULAR LOCALIZATION

plasma membrane

basic FUNCTION	mediating homophilic adhesion and direct laminar targeting of neurites
	having a structure consistent with its participation in cell-cell interaction during eye development
	determinants of lamina-specific synaptic connectivity
	important mediator of cellular adhesion in HIV-infected podocytes and may contribute to podocyte clustering that is characteristic of pseudocrescent formation in HIV associated nephropathy

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	interacting with DSCAM1 (direct lamina-specific synaptic connections in vertebrate retina)
	associates with the slit diaphragm linker protein MAGI1, which is already known to interact with several critical podocyte proteins including synaptopodin, ACTNA4, NPHS1, IGSF5, and beta-catenin

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --over   in glomeruli in HIV-associated nephropathy constitutional     --over   in podocytes is an important pathogenic factor in FSGS (Focal segmental glomerulosclerosis) and the mechanism involves disruption of the actin cytoskeleton possibly via alterations in MAGI1 function (MID: 20562105)

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

mouse model of chronic FSGS that implicates the sdk-1 genetic pathway as important to the pathogenesis of glomerular sclerosis