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

Entrez Gene Summary for DSCAML1 Gene

  • 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]

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. Gene Ontology (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).

Additional gene information for DSCAML1 Gene

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

Genomics for DSCAML1 Gene

GeneHancer (GH) Regulatory Elements for DSCAML1 Gene

Promoters and enhancers for DSCAML1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH11J117814 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 664.6 +0.1 123 6.7 HDGF PKNOX1 FOXA2 SMAD1 ARNT ZFP64 ARID4B SIN3A YBX1 ZNF2 DSCAML1 FXYD2 ENSG00000254844 IL10RA FXYD6-FXYD2 FXYD6 LOC653303 RNF214 TMPRSS13 CEP164
GH11J117794 Promoter/Enhancer 1.3 EPDnew Ensembl dbSUPER 675 +21.3 21299 2.9 SUZ12 SIN3A E2F1 ZNF335 GATA3 ZFHX2 E2F8 GLIS1 ZNF444 ZBTB26 DSCAML1 FXYD2 ENSG00000254844 CD3D GC11P117669
GH11J117809 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 24.2 +7.9 7897 0.9 HDGF SMAD1 ARNT YBX1 ZNF2 ZBTB7B ZNF48 ZNF280A ZNF207 NCOA1 UBE4A ARCN1 DSCAML1 KMT2A SIDT2 FXYD2 MPZL2 RNF214 RPS27P19 DDX6
GH11J118433 Promoter/Enhancer 2.7 VISTA EPDnew Ensembl ENCODE dbSUPER 9.9 -620.6 -620563 8.2 CLOCK ZFP64 DMAP1 YY1 ZNF213 E2F8 ZNF143 SP3 NFYC ZNF610 KMT2A VPS11 HINFP ARCN1 TMEM25 CCDC84 IFT46 UBE4A THY1 BCL9L
GH11J118398 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE dbSUPER 9.9 -583.3 -583274 5.1 CLOCK FOXA2 ARNT ARID4B NEUROD1 SIN3A DMAP1 ZBTB7B YY1 POLR2B ENSG00000254873 ATP5MG ARCN1 RNF26 ENSG00000254909 ENSG00000254428 RPL23AP64 UBE4A IFT46 TMEM25
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DSCAML1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the DSCAML1 gene promoter:
  • Lmo2
  • Tal-1beta
  • ITF-2
  • RSRFC4
  • LCR-F1
  • ZIC2
  • PPAR-gamma2
  • PPAR-gamma1
  • HTF
  • AREB6

Genomic Locations for DSCAML1 Gene

Genomic Locations for DSCAML1 Gene
chr11:117,427,772-117,817,525
(GRCh38/hg38)
Size:
389,754 bases
Orientation:
Minus strand
chr11:117,298,489-117,688,240
(GRCh37/hg19)
Size:
389,752 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 Asn1561, Asn1531, posLast=14921492, posLast=13451345, posLast=12751275, Asn1162, Asn1144, posLast=10821082, Asn926, posLast=809809, posLast=796796, posLast=749749, posLast=710710, Asn666, posLast=556556, Asn513, Asn471, Asn368, Asn79, and posLast=2929
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for DSCAML1 Gene

Domains & Families for DSCAML1 Gene

Suggested Antigen Peptide Sequences for DSCAML1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

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

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

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).

Phenotypes From GWAS Catalog for DSCAML1 Gene

Gene Ontology (GO) - Molecular Function for DSCAML1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IEA --
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

miRNA for DSCAML1 Gene

miRTarBase miRNAs that target DSCAML1

Clone 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for DSCAML1 gene
Compartment Confidence
plasma membrane 5
extracellular 5
cytosol 2
mitochondrion 1
nucleus 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for DSCAML1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space HDA 22664934
GO:0005886 plasma membrane TAS --
GO:0009986 cell surface IDA 11453658
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with DSCAML1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for DSCAML1 Gene

Pathways & Interactions for DSCAML1 Gene

SuperPathways for DSCAML1 Gene

SuperPathway Contained pathways
1 Cell junction organization
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:0007155 cell adhesion IEA --
GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules IDA 11453658
GO:0007399 nervous system development IEA --
GO:0007409 axonogenesis NAS 11453658
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:

Clone 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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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 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.

Evidence on tissue expression from TISSUES for DSCAML1 Gene

  • Nervous system(4.6)
genes like me logo Genes that share expression patterns with DSCAML1: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for DSCAML1 Gene

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 34 33
  • 99.51 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 99 (a)
OneToMany
-- 34
  • 90 (a)
OneToMany
dog
(Canis familiaris)
Mammalia DSCAML1 34 33
  • 93.61 (n)
OneToOne
cow
(Bos Taurus)
Mammalia DSCAML1 34 33
  • 93.59 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Dscaml1 16 34 33
  • 91.14 (n)
rat
(Rattus norvegicus)
Mammalia Dscaml1 33
  • 91.11 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia DSCAML1 34
  • 87 (a)
OneToOne
chicken
(Gallus gallus)
Aves DSCAML1 34 33
  • 85.18 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DSCAML1 34
  • 91 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dscaml1 33
  • 74.6 (n)
zebrafish
(Danio rerio)
Actinopterygii dscaml1 34 33
  • 76.23 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Dscam 35 33
  • 47.68 (n)
CG7060 35
  • 34 (a)
CG18630 35
  • 29 (a)
sdk 34
  • 17 (a)
ManyToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010884 33
  • 47.18 (n)
worm
(Caenorhabditis elegans)
Secernentea C53A5.13 34
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for DSCAML1: view image

Paralogs for DSCAML1 Gene

Paralogs for DSCAML1 Gene

(2) SIMAP similar genes for DSCAML1 Gene using alignment to 3 proteins:

  • DSCL1_HUMAN
  • E9PP71_HUMAN
  • G3V1B5_HUMAN
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 Variation AA Info Type
rs193920955 uncertain-significance, Malignant tumor of prostate 117,504,965(-) T/C coding_sequence_variant, genic_upstream_transcript_variant, missense_variant
rs759222737 likely-pathogenic, Abnormality of brain morphology 117,518,745(-) C/G/T 5_prime_UTR_variant, coding_sequence_variant, genic_upstream_transcript_variant, missense_variant
VAR_035512 A colorectal cancer sample p.Val659Ile
VAR_035513 A colorectal cancer sample p.Val1702Ile
rs1000007282 -- 117,622,844(-) G/A/T genic_upstream_transcript_variant, 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)

Additional Variant Information 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: HGMD, DISEASES, and GeneCards

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

Additional Disease Information for DSCAML1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 KL … Yamakawa K (Biochemical and biophysical research communications 2001) 2 3 4 58
  2. Human variation in alcohol response is influenced by variation in neuronal signaling genes. (PMID: 20201926) Joslyn G … White RL (Alcoholism, clinical and experimental research 2010) 3 44 58
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58
  4. Molecular genetics of successful smoking cessation: convergent genome-wide association study results. (PMID: 18519826) Uhl GR … Lerman C (Archives of general psychiatry 2008) 3 44 58
  5. A null mutation in human APOC3 confers a favorable plasma lipid profile and apparent cardioprotection. (PMID: 19074352) Pollin TI … Shuldiner AR (Science (New York, N.Y.) 2008) 3 44 58

Products for DSCAML1 Gene

Sources for DSCAML1 Gene

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