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Aliases for DSCAML1 Gene

Aliases for DSCAML1 Gene

  • DS Cell Adhesion Molecule Like 1 2 3 5
  • Down Syndrome Cell Adhesion Molecule Like 1 2 3
  • Down Syndrome Cell Adhesion Molecule 2 3 4
  • DSCAM2 3 4
  • Down Syndrome Cell Adhesion Molecule-Like Protein 1 3
  • Downs Syndrome Cell Adhesion Molecule Like 1 3
  • DSCAM-Like 1 3
  • KIAA1132 4

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

UniProtKB/Swiss-Prot for DSCAML1 Gene

  • Cell adhesion molecule that plays a role in neuronal self-avoidance (PubMed:11453658). 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). Adhesion molecule that promotes lamina-specific synaptic connections in the retina: expressed in specific subsets of interneurons and retinal ganglion cells (RGCs) and promotes synaptic connectivity via homophilic interactions (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

Enhancers for DSCAML1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
- Elite enhancer/Elite enhancer-gene association

Enhancers around DSCAML1 on UCSC Golden Path with GeneCards custom track

Genomic Location for DSCAML1 Gene

Chromosome:
11
Start:
117,427,772 bp from pter
End:
117,817,525 bp from pter
Size:
389,754 bases
Orientation:
Minus strand

Genomic View for DSCAML1 Gene

Genes around DSCAML1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DSCAML1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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:
    • Homodimer; mediates homophilic interactions to promote cell adhesion.
    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

Post-translational modifications for DSCAML1 Gene

  • Glycosylation at Asn 29, Asn 79, Asn 368, Asn 471, Asn 513, Asn 556, Asn 666, Asn 710, Asn 749, Asn 796, Asn 809, Asn 926, Asn 1082, Asn 1144, Asn 1162, Asn 1275, Asn 1345, Asn 1492, Asn 1531, and Asn 1561
  • Modification sites at PhosphoSitePlus

Other Protein References for DSCAML1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for DSCAML1 Gene

Domains & Families for DSCAML1 Gene

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 :
  • Contains 6 fibronectin type-III domains.
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 (PubMed:11453658). 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). Adhesion molecule that promotes lamina-specific synaptic connections in the retina: expressed in specific subsets of interneurons and retinal ganglion cells (RGCs) and promotes synaptic connectivity via homophilic interactions (By similarity).

Gene Ontology (GO) - Molecular Function for DSCAML1 Gene

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

Animal Model Products

  • Taconic Biosciences Mouse Models for DSCAML1

CRISPR Products

miRNA for DSCAML1 Gene

miRTarBase miRNAs that target DSCAML1

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets 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. Cell junction, synapse.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for DSCAML1 Gene COMPARTMENTS Subcellular localization image for DSCAML1 gene
Compartment Confidence
extracellular 5
plasma membrane 5
cytosol 2
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 --
GO:0030054 cell junction IEA --
genes like me logo Genes that share ontologies with DSCAML1: view

Pathways & Interactions 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:0007409 axonogenesis NAS 11453658
GO:0007417 central nervous system development NAS 12051741
GO:0007420 brain development IDA 12051741
genes like me logo Genes that share ontologies with DSCAML1: view

No data available for SIGNOR curated interactions for DSCAML1 Gene

Drugs & Compounds for DSCAML1 Gene

No Compound Related Data Available

Transcripts for DSCAML1 Gene

Unigene Clusters for DSCAML1 Gene

Down syndrome cell adhesion molecule like 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

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) (x4.6).

Protein differential expression in normal tissues from HIPED for DSCAML1 Gene

This gene is overexpressed in Monocytes (46.2), Lung (11.9), and Kidney (10.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for DSCAML1 Gene



Protein tissue co-expression partners for DSCAML1 Gene

NURSA nuclear receptor signaling pathways regulating expression of DSCAML1 Gene:

DSCAML1

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 expression patterns with DSCAML1: view

Primer 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
cow
(Bos Taurus)
Mammalia DSCAML1 34
  • 93.59 (n)
  • 98.14 (a)
DSCAML1 35
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia DSCAML1 34
  • 93.61 (n)
  • 98.92 (a)
DSCAML1 35
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Dscaml1 34
  • 91.14 (n)
  • 98.15 (a)
Dscaml1 16
Dscaml1 35
  • 98 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia DSCAML1 34
  • 99.51 (n)
  • 99.76 (a)
DSCAML1 35
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Dscaml1 34
  • 91.11 (n)
  • 98.01 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 99 (a)
OneToMany
-- 35
  • 90 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia DSCAML1 35
  • 87 (a)
OneToOne
chicken
(Gallus gallus)
Aves DSCAML1 34
  • 85.18 (n)
  • 92.44 (a)
DSCAML1 35
  • 92 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DSCAML1 35
  • 91 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dscaml1 34
  • 74.6 (n)
  • 86.17 (a)
zebrafish
(Danio rerio)
Actinopterygii dscaml1 34
  • 76.23 (n)
  • 84.22 (a)
dscaml1 35
  • 81 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG18630 36
  • 29 (a)
CG7060 36
  • 34 (a)
Dscam 36
  • 31 (a)
Dscam 34
  • 47.68 (n)
  • 34.55 (a)
sdk 35
  • 17 (a)
ManyToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010884 34
  • 47.18 (n)
  • 34.55 (a)
worm
(Caenorhabditis elegans)
Secernentea C53A5.13 35
  • 17 (a)
ManyToMany
Species where no ortholog for DSCAML1 was found in the sources mined by GeneCards:
  • 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

(2) 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
VAR_035512 A colorectal cancer sample
VAR_035513 A colorectal cancer sample
rs1014034 -- 117,791,019(+) CACAG(C/G)GAGTG intron-variant
rs1243736 -- 117,609,044(-) ttttt(G/T)ttttt intron-variant
rs1263889 -- 117,603,118(-) ttttt(G/T)ttgtt intron-variant

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

Variant ID Type Subtype PubMed ID
dgv246e199 CNV deletion 23128226
esv1005765 CNV deletion 20482838
esv1008110 CNV deletion 20482838
esv2657601 CNV deletion 23128226
esv2660899 CNV deletion 23128226
esv275216 CNV gain+loss 21479260
esv3390933 CNV insertion 20981092
esv3627855 CNV loss 21293372
esv3627856 CNV loss 21293372
esv3627857 CNV loss 21293372
esv3627859 CNV loss 21293372
nsv1052364 CNV gain 25217958
nsv1113439 CNV deletion 24896259
nsv1144596 CNV deletion 24896259
nsv474575 CNV novel sequence insertion 20440878
nsv475907 CNV novel sequence insertion 20440878
nsv478616 CNV novel sequence insertion 20440878
nsv479331 CNV novel sequence insertion 20440878
nsv508 CNV insertion 18451855
nsv509 CNV insertion 18451855
nsv519857 CNV loss 19592680
nsv521775 CNV loss 19592680
nsv527773 CNV loss 19592680
nsv556458 CNV loss 21841781
nsv556459 CNV loss 21841781
nsv556460 CNV gain 21841781
nsv556461 CNV loss 21841781
nsv826099 CNV gain 20364138
nsv832282 CNV gain 17160897
nsv952740 CNV deletion 24416366
nsv957377 CNV deletion 24416366

Variation tolerance for DSCAML1 Gene

Residual Variation Intolerance Score: 0.313% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 11.90; 93.55% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for DSCAML1 Gene

Human Gene Mutation Database (HGMD)
DSCAML1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
DSCAML1

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

Disorders for DSCAML1 Gene

MalaCards: The human disease database

(3) MalaCards diseases for DSCAML1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
down syndrome
  • complete trisomy 21 syndrome
mite infestation
  • mite infestations
parasitic ectoparasitic infectious disease
  • ectoparasitism
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for DSCAML1

Genetic Association Database (GAD)
DSCAML1
Human Genome Epidemiology (HuGE) Navigator
DSCAML1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DSCAML1
genes like me logo Genes that share disorders with DSCAML1: view

No data available for UniProtKB/Swiss-Prot and Genatlas 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 65
  2. Human variation in alcohol response is influenced by variation in neuronal signaling genes. (PMID: 20201926) Joslyn G. … White R.L. (Alcohol. Clin. Exp. Res. 2010) 3 46 65
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 65
  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 46 65
  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 46 65

Products for DSCAML1 Gene

Sources for DSCAML1 Gene

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