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Aliases for DSCAML1 Gene

Aliases for DSCAML1 Gene

  • Down Syndrome Cell Adhesion Molecule Like 1 2 3
  • Down Syndrome Cell Adhesion Molecule 2 3 4
  • KIAA1132 4 6
  • DSCAM2 3 4
  • Down Syndrome Cell Adhesion Molecule-Like Protein 1 3
  • Downs Syndrome Cell Adhesion Molecule Like 1 3
  • DSCAM-Like 1 3

External Ids for DSCAML1 Gene

Previous GeneCards Identifiers for DSCAML1 Gene

  • GC11M119651
  • GC11M118810
  • GC11M117332
  • GC11M116836
  • GC11M116803
  • GC11M113232

Summaries for DSCAML1 Gene

GeneCards Summary for DSCAML1 Gene

DSCAML1 (Down Syndrome Cell Adhesion Molecule Like 1) is a Protein Coding gene. Diseases associated with DSCAML1 include down syndrome. Among its related pathways are Cell junction organization and Cell junction organization. GO annotations related to this gene include protein homodimerization activity. An important paralog of this gene is FNDC3A.

UniProtKB/Swiss-Prot for DSCAML1 Gene

  • Cell adhesion molecule that plays a role in neuronal self-avoidance. Promotes repulsion between specific neuronal processes of either the same cell or the same subtype of cells. Promotes both isoneuronal self-avoidance for creating an orderly neurite arborization in retinal rod bipolar cells and heteroneuronal self-avoidance to maintain mosaic spacing between AII amacrine cells (By similarity).

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DSCAML1 Gene

Genomics for DSCAML1 Gene

Regulatory Elements for DSCAML1 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for DSCAML1 Gene

Start:
117,427,773 bp from pter
End:
117,817,525 bp from pter
Size:
389,753 bases
Orientation:
Minus strand

Genomic View for DSCAML1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for DSCAML1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DSCAML1 Gene

Proteins for DSCAML1 Gene

  • Protein details for DSCAML1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8TD84-DSCL1_HUMAN
    Recommended name:
    Down syndrome cell adhesion molecule-like protein 1
    Protein Accession:
    Q8TD84
    Secondary Accessions:
    • Q76MU9
    • Q8IZY3
    • Q8IZY4
    • Q8WXU7
    • Q9ULT7

    Protein attributes for DSCAML1 Gene

    Size:
    2053 amino acids
    Molecular mass:
    224463 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAM09558.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=BAA86446.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for DSCAML1 Gene

    Alternative splice isoforms for DSCAML1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DSCAML1 Gene

Proteomics data for DSCAML1 Gene at MOPED

Post-translational modifications for DSCAML1 Gene

  • Glycosylation at Asn29, Asn79, Asn368, Asn471, Asn513, Asn556, Asn666, Asn710, Asn749, Asn796, Asn809, Asn926, Asn1082, Asn1144, Asn1162, Asn1275, Asn1345, Asn1492, Asn1531, and Asn1561
  • Modification sites at PhosphoSitePlus

Other Protein References for DSCAML1 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for DSCAML1 Gene

Domains for DSCAML1 Gene

Gene Families for DSCAML1 Gene

HGNC:
  • FN3 :Fibronectin type III domain containing
  • IGD :Immunoglobulin superfamily / Immunoglobulin-like domain containing
  • ISET :Immunoglobulin superfamily / I-set domain containing

Protein Domains for DSCAML1 Gene

Suggested Antigen Peptide Sequences for DSCAML1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8TD84

UniProtKB/Swiss-Prot:

DSCL1_HUMAN :
  • Q8TD84
Domain:
  • Contains 6 fibronectin type-III domains.
  • Contains 10 Ig-like C2-type (immunoglobulin-like) domains.
genes like me logo Genes that share domains with DSCAML1: view

Function for DSCAML1 Gene

Molecular function for DSCAML1 Gene

UniProtKB/Swiss-Prot Function: Cell adhesion molecule that plays a role in neuronal self-avoidance. Promotes repulsion between specific neuronal processes of either the same cell or the same subtype of cells. Promotes both isoneuronal self-avoidance for creating an orderly neurite arborization in retinal rod bipolar cells and heteroneuronal self-avoidance to maintain mosaic spacing between AII amacrine cells (By similarity).

Gene Ontology (GO) - Molecular Function for DSCAML1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding --
GO:0042803 protein homodimerization activity IDA 11453658
genes like me logo Genes that share ontologies with DSCAML1: view

Phenotypes for DSCAML1 Gene

MGI mutant phenotypes for DSCAML1:
inferred from 1 alleles
GenomeRNAi human phenotypes for DSCAML1:
genes like me logo Genes that share phenotypes with DSCAML1: view

Animal Model Products

CRISPR Products

miRNA for DSCAML1 Gene

miRTarBase miRNAs that target DSCAML1

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for DSCAML1 Gene

Localization for DSCAML1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DSCAML1 Gene

Cell membrane; Single-pass type I membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for DSCAML1 Gene COMPARTMENTS Subcellular localization image for DSCAML1 gene
Compartment Confidence
plasma membrane 5
cytosol 2
extracellular 1
golgi apparatus 1
mitochondrion 1
nucleus 1

Gene Ontology (GO) - Cellular Components for DSCAML1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space IDA 22664934
GO:0005886 plasma membrane TAS --
GO:0009986 cell surface IDA 11453658
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with DSCAML1: view

Pathways for DSCAML1 Gene

SuperPathways for DSCAML1 Gene

genes like me logo Genes that share pathways with DSCAML1: view

Pathways by source for DSCAML1 Gene

2 Reactome pathways for DSCAML1 Gene

Gene Ontology (GO) - Biological Process for DSCAML1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001709 cell fate determination NAS 12051741
GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules IDA 11453658
GO:0007162 negative regulation of cell adhesion IEA --
GO:0007409 axonogenesis NAS 11453658
GO:0007417 central nervous system development NAS 12051741
genes like me logo Genes that share ontologies with DSCAML1: view

Transcripts for DSCAML1 Gene

Unigene Clusters for DSCAML1 Gene

Down syndrome cell adhesion molecule like 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for DSCAML1

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for DSCAML1

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for DSCAML1 Gene

No ASD Table

Relevant External Links for DSCAML1 Gene

GeneLoc Exon Structure for
DSCAML1
ECgene alternative splicing isoforms for
DSCAML1

Expression for DSCAML1 Gene

mRNA expression in normal human tissues for DSCAML1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for DSCAML1 Gene

This gene is overexpressed in Brain - Spinal cord (cervical c-1) (4.6).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for DSCAML1 Gene

SOURCE GeneReport for Unigene cluster for DSCAML1 Gene Hs.659513

mRNA Expression by UniProt/SwissProt for DSCAML1 Gene

Q8TD84-DSCL1_HUMAN
Tissue specificity: Detected in heart, liver, pancreas, skeletal muscle, kidney and in brain, in particular in the amygdala, caudate nucleus, corpus callosum, hippocampus, substantia nigra, thalamus and subthalamus.
genes like me logo Genes that share expressions with DSCAML1: view

In Situ Assay Products

Orthologs for DSCAML1 Gene

This gene was present in the common ancestor of animals.

Orthologs for DSCAML1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DSCAML1 35
  • 99.51 (n)
  • 99.76 (a)
DSCAML1 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia DSCAML1 35
  • 93.59 (n)
  • 98.14 (a)
DSCAML1 36
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia DSCAML1 35
  • 93.61 (n)
  • 98.92 (a)
DSCAML1 36
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Dscaml1 35
  • 91.14 (n)
  • 98.15 (a)
Dscaml1 16
Dscaml1 36
  • 98 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 99 (a)
OneToMany
-- 36
  • 90 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia DSCAML1 36
  • 87 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Dscaml1 35
  • 91.11 (n)
  • 98.01 (a)
chicken
(Gallus gallus)
Aves DSCAML1 35
  • 85.18 (n)
  • 92.44 (a)
DSCAML1 36
  • 92 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DSCAML1 36
  • 91 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dscaml1 35
  • 74.6 (n)
  • 86.17 (a)
zebrafish
(Danio rerio)
Actinopterygii dscaml1 35
  • 76.23 (n)
  • 84.22 (a)
dscaml1 36
  • 81 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010884 35
  • 47.18 (n)
  • 34.55 (a)
fruit fly
(Drosophila melanogaster)
Insecta Dscam 35
  • 47.68 (n)
  • 34.55 (a)
sdk 36
  • 17 (a)
ManyToMany
CG18630 37
  • 29 (a)
CG7060 37
  • 34 (a)
Dscam 37
  • 31 (a)
worm
(Caenorhabditis elegans)
Secernentea C53A5.13 36
  • 17 (a)
ManyToMany
Species with no ortholog for DSCAML1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for DSCAML1 Gene

ENSEMBL:
Gene Tree for DSCAML1 (if available)
TreeFam:
Gene Tree for DSCAML1 (if available)

Paralogs for DSCAML1 Gene

Paralogs for DSCAML1 Gene

Selected SIMAP similar genes for DSCAML1 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with DSCAML1: view

Variants for DSCAML1 Gene

Sequence variations from dbSNP and Humsavar for DSCAML1 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type MAF
rs16867 -- 117,651,252(+) ACAGA(C/T)GATAA intron-variant
rs87824 -- 117,571,527(+) ATTTC(C/G)GGTAT intron-variant
rs472648 -- 117,436,549(+) GTGCA(C/T)GTGTG intron-variant
rs473343 -- 117,537,441(+) CAAAG(C/G)GGGGC intron-variant
rs474749 -- 117,584,954(+) TGTCC(A/G)ATACA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for DSCAML1 Gene

Variant ID Type Subtype PubMed ID
dgv246e199 CNV Deletion 23128226
nsv832282 CNV Gain 17160897
nsv521775 CNV Loss 19592680
esv2660899 CNV Deletion 23128226
esv1008110 CNV Deletion 20482838
nsv898404 CNV Loss 21882294
esv275216 CNV Gain+Loss 21479260
nsv508 CNV Insertion 18451855
nsv519857 CNV Loss 19592680
nsv527773 CNV Loss 19592680
nsv509 CNV Insertion 18451855
esv1005765 CNV Deletion 20482838
esv2657601 CNV Deletion 23128226
nsv826099 CNV Gain 20364138

Relevant External Links for DSCAML1 Gene

HapMap Linkage Disequilibrium report
DSCAML1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DSCAML1 Gene

Disorders for DSCAML1 Gene

MalaCards: The human disease database

MalaCards: The human disease database. (1) Diseases for DSCAML1 Gene including...

Search for DSCAML1 Gene in MalaCards »

Relevant External Links for DSCAML1

Genetic Association Database (GAD)
DSCAML1
Human Genome Epidemiology (HuGE) Navigator
DSCAML1
genes like me logo Genes that share disorders with DSCAML1: view

No data available for UniProtKB/Swiss-Prot for DSCAML1 Gene

Publications for DSCAML1 Gene

  1. Cloning and functional characterization of DSCAML1, a novel DSCAM- like cell adhesion molecule that mediates homophilic intercellular adhesion. (PMID: 11453658) Agarwala K.L. … Yamakawa K. (Biochem. Biophys. Res. Commun. 2001) 2 3 4
  2. Mammalian DSCAMs: roles in the development of the spinal cord, cortex, and cerebellum? (PMID: 12051741) Barlow G.M. … Korenberg J.R. (Biochem. Biophys. Res. Commun. 2002) 3 4
  3. Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones. (PMID: 12168954) Nakajima D. … Nagase T. (DNA Res. 2002) 3 4
  4. Molecular genetics of successful smoking cessation: convergent genome-wide association study results. (PMID: 18519826) Uhl G.R. … Lerman C. (Arch. Gen. Psychiatry 2008) 3 48
  5. A null mutation in human APOC3 confers a favorable plasma lipid profile and apparent cardioprotection. (PMID: 19074352) Pollin T.I. … Shuldiner A.R. (Science 2008) 3 48

Products for DSCAML1 Gene

Sources for DSCAML1 Gene

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