2. Gene
  3. DSCAML1 - DS cell adhesion molecule like 1 Gene

DSCAML1 - DS cell adhesion molecule like 1 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as DSCAM2

Gene ID: 57453 | Gene type: protein coding

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 Reference Source
enables protein homodimerization activity IDA
IDA: Inferred from direct assay
11453658 GOA
Biological Process GO Annotation Evidence Reference 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 Reference 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

Ig_2: Immunoglobulin domain (194 - 276)

I-set

I-set: Immunoglobulin I-set domain (289 - 370)

I-set

I-set: Immunoglobulin I-set domain (377 - 456)

I-set

I-set: Immunoglobulin I-set domain (468 - 562)

I-set

I-set: Immunoglobulin I-set domain (569 - 638)

I-set

I-set: Immunoglobulin I-set domain (667 - 746)

I-set

I-set: Immunoglobulin I-set domain (750 - 843)

I-set

I-set: Immunoglobulin I-set domain (851 - 944)

fn3

fn3: Fibronectin type III domain (949 - 1034)

fn3

fn3: Fibronectin type III domain (1049 - 1138)

fn3

fn3: Fibronectin type III domain (1153 - 1239)

fn3

fn3: Fibronectin type III domain (1253 - 1337)

I-set

I-set: Immunoglobulin I-set domain (1365 - 1440)

fn3

fn3: Fibronectin type III domain (1448 - 1527)

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  • 2113 a.a.
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
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS04018 DSCAML1 Human Pre-designed siRNA Set A Pre-designed Sets / 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