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DSCAML1 - DS cell adhesion molecule like 1 Gene

Also Known as DSCAM2

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 57453

About DSCAML1

Cytogenetic location: 11q23.3 Genomic coordinates (GRCh38): 11:117,427,772-117,817,514 (from NCBI)

This gene has 5 transcripts (splice variants), 251 orthologues, 36 paralogues and is associated with 1 phenotype. Biased expression in brain (RPKM 3.3), ovary (RPKM 1.2) and 9 other tissues.

Summary

The protein encoded by this gene is a member of the Ig superfamily of cell adhesion molecules and is involved in neuronal differentiation. The encoded membrane-bound protein localizes to the cell surface, where it forms aggregates that repel neuronal processes of the same cell type. [provided by RefSeq, Sep 2016]

DSCAML1 Products (3)

mRNA	Protein	Name
NM_001367904.1	NP_001354833.1	cell adhesion molecule DSCAML1 isoform 2 precursor
NM_001367905.1	NP_001354834.1	cell adhesion molecule DSCAML1 isoform 3
NM_020693.4	NP_065744.3	cell adhesion molecule DSCAML1 isoform 1 precursor

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein homodimerization activity	IDA IDA: Inferred from direct assay	11453658	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in brain development	IDA IDA: Inferred from direct assay	12051741	GOA
involved in embryonic skeletal system morphogenesis	IDA IDA: Inferred from direct assay	12051741	GOA
involved in homophilic cell adhesion via plasma membrane adhesion molecules	IDA IDA: Inferred from direct assay	11453658	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in cell surface	IDA IDA: Inferred from direct assay	11453658	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

DSCAML1 Protein Structure

Ig_2

I-set

fn3

I-set

fn3

0
400
800
1200
1600
2000
2113 a.a.

Protein Preferred Names	Protein Names
cell adhesion molecule DSCAML1 Down syndrome cell adhesion molecule-like protein 1	DSCAM-like 1

Protein Preferred Names

Protein Names

cell adhesion molecule DSCAML1

Down syndrome cell adhesion molecule-like protein 1

DSCAM-like 1

Related Diseases

Diseases	Alias
Down Syndrome	Trisomy 21 Complete Trisomy 21 Syndrome Down'S Syndrome Trisomy 21 Syndrome Down'S Syndrome - Trisomy 21 Downs Syndrome G Trisomy 47,Xx,+21 47,Xy,+21 Trisomy G Down Syndrome, Susceptibility To Chromosome 21 Trisomy Trisomy 21 Nos Abnormal Autosomes 21
Mannosidosis, Beta A, Lysosomal	Beta-Mannosidosis Lysosomal Beta-Mannosidase Deficiency Beta-Mannosidase Deficiency Beta-D-Mannosidosis Mannosidosis, Beta MANSB Lysosomal Beta A Mannosidosis
Seckel Syndrome 5	SCKL5 Seckel Syndrome, Type 5
Jacobsen Syndrome	Chromosome 11q Deletion Syndrome Partial 11q Monosomy Syndrome Jacobsen Distal 11q Deletion Syndrome JBS 11q Partial Monosomy Syndrome Chromosome 11q Deletion 11q Deletion 11q Monosomy Deletion 11q Monosomy 11q Partial Monosomy 11q 11q Deletion Disorder 11q Deletion Syndrome 11q Terminal Deletion Disorder 11q- Deletion Syndrome 11q23 Deletion Disorder Jacobsen Thrombocytopenia 11q Terminal Deletion Syndrome Del(11)(Q23.3) Del(11)(Qter) Distal Deletion 11q Distal Monosomy 11q Monosomy 11qter Telomeric Deletion 11q Paris-Trousseau Thrombocytopenia

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS04018	DSCAML1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	DSCAML1	VGNC	VGNC:97760
Felis catus	DSCAML1	VGNC	VGNC:82011
Bos taurus	DSCAML1	VGNC	VGNC:28216
Mus musculus	DSCAML1	MGD	MGI:2150309
Rattus norvegicus	DSCAML1	RGD	RGD:1304887
Canis familiaris	DSCAML1	VGNC	VGNC:97189
Others	DSCAML1	NCBI