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DSCAML1 DS cell adhesion molecule like 1 [ Homo sapiens (human) ]

Gene ID: 57453, updated on 3-Apr-2024

Summary

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Official Symbol
DSCAML1provided by HGNC
Official Full Name
DS cell adhesion molecule like 1provided by HGNC
Primary source
HGNC:HGNC:14656
See related
Ensembl:ENSG00000177103 MIM:611782; AllianceGenome:HGNC:14656
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
DSCAM2
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]
Expression
Biased expression in brain (RPKM 3.3), ovary (RPKM 1.2) and 9 other tissues See more
Orthologs
mouse all
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Genomic context

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Location:
11q23.3
Exon count:
40
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (117427772..117817514, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (117444420..117833926, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (117298488..117688229, complement)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:117170345-117170906 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:117170907-117171468 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:117184838-117185360 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:117185361-117185882 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3936 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3937 Neighboring gene BACE1 antisense RNA Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3938 Neighboring gene beta-secretase 1 Neighboring gene centrosomal protein 164 Neighboring gene proline rich 13 pseudogene 3 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:117251903-117252429 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:117252430-117252955 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:117253123-117253624 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:117282701-117283213 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:117290977-117291477 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:117300124-117300802 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:117300803-117301480 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:117301481-117302158 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5571 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:117308425-117309399 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:117313272-117314252 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:117335195-117335696 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:117353337-117353840 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:117353841-117354343 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:117360661-117361161 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:117365669-117366170 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:117382135-117383118 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:117385871-117386470 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:117392233-117393054 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:117417610-117418130 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:117418131-117418651 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:117428576-117429447 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:117427703-117428575 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:117430072-117430572 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:117430573-117431073 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:117463869-117464660 Neighboring gene MPRA-validated peak1488 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:117471363-117472111 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5572 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:117482895-117483428 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:117488029-117488528 Neighboring gene uncharacterized LOC105369515 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:117533497-117534182 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:117539691-117540527 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:117549982-117550688 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:117550689-117551396 Neighboring gene NANOG hESC enhancer GRCh37_chr11:117594511-117595039 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:117629849-117630350 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:117630351-117630850 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:117651403-117651902 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5573 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5574 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:117684525-117685102 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5575 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:117689832-117690566 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:117690567-117691301 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:117692983-117693536 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:117695199-117695752 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:117695753-117696305 Neighboring gene FXYD6-FXYD2 readthrough Neighboring gene FXYD6 antisense RNA 1 Neighboring gene FXYD domain containing ion transport regulator 2 Neighboring gene FXYD domain containing ion transport regulator 6

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Potential involvement of DSCAML1 mutations in neurodevelopmental disorders. Ogata S, et al. Genes Cells, 2021 Mar. PMID 33501714
  2. Variants in DPF3 and DSCAML1 are associated with sperm morphology. Kosova G, et al. J Assist Reprod Genet, 2014 Feb. PMID 24271036, Free PMC Article
  3. Cloning and functional characterization of DSCAML1, a novel DSCAM-like cell adhesion molecule that mediates homophilic intercellular adhesion. Agarwala KL, et al. Biochem Biophys Res Commun, 2001 Jul 20. PMID 11453658
  4. Human down syndrome cell adhesion molecules (DSCAMs) are functionally conserved with Drosophila Dscam[TM1] isoforms in controlling neurodevelopment. Huang J, et al. Insect Biochem Mol Biol, 2011 Oct. PMID 21645617
  5. A null mutation in human APOC3 confers a favorable plasma lipid profile and apparent cardioprotection. Pollin TI, et al. Science, 2008 Dec 12. PMID 19074352, Free PMC Article

See all (19) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Potential involvement of DSCAML1 mutations in neurodevelopmental disorders.
    Title: Potential involvement of DSCAML1 mutations in neurodevelopmental disorders.
  2. DSCAML1 protein rs680730 SNP is associated with poor sperm morphology.
    Title: Variants in DPF3 and DSCAML1 are associated with sperm morphology.
  3. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
  4. Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
    Title: Human variation in alcohol response is influenced by variation in neuronal signaling genes.
  5. in all transgenic retinal cell types examined, both DSCAM and DSCAM-LIKE1 genes are functioning similarly in self-avoidance, whereas the stratification of neurites and synaptic specificity are intact in their absence.
    Title: DSCAM and DSCAML1 function in self-avoidance in multiple cell types in the developing mouse retina.
  6. Clinical trial and genome-wide association study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
    Title: Molecular genetics of successful smoking cessation: convergent genome-wide association study results.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
A null mutation in human APOC3 confers a favorable plasma lipid profile and apparent cardioprotection.
EBI GWAS Catalog
Genome-wide association study of age at menarche in African-American women.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • KIAA1132

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables cell-cell adhesion mediator activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables protein homodimerization activity IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in axon guidance IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in axonogenesis NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in brain development IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in cell fate determination NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in central nervous system development IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in central nervous system development NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in dendrite self-avoidance IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in dorsal/ventral pattern formation NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in embryonic skeletal system morphogenesis IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in homophilic cell adhesion via plasma membrane adhesion molecules IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in homophilic cell adhesion via plasma membrane adhesion molecules IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
is_active_in axon IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cell surface IDA
Inferred from Direct Assay
more info
 PubMed 
located_in extracellular space HDA PubMed 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in plasma membrane TAS
Traceable Author Statement
more info
  
located_in synapse IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
cell adhesion molecule DSCAML1
Names
DSCAM-like 1
Downs syndrome cell adhesion molecule like 1
down syndrome cell adhesion molecule 2
down syndrome cell adhesion molecule-like protein 1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_051656.2 RefSeqGene

    Range
    25298..394742
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001367904.1 → NP_001354833.1  cell adhesion molecule DSCAML1 isoform 2 precursor

    Status: REVIEWED

    Source sequence(s)
    AP000757, AP002342

  2. NM_001367905.1 → NP_001354834.1  cell adhesion molecule DSCAML1 isoform 3

    Status: REVIEWED

    Source sequence(s)
    AK025940, AP000757, AP002342

  3. NM_020693.4 → NP_065744.3  cell adhesion molecule DSCAML1 isoform 1 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AP000757, AP002342
    Consensus CDS
    CCDS8384.2
    UniProtKB/Swiss-Prot
    G3V1B5, Q76MU9, Q8IZY3, Q8IZY4, Q8TD84, Q8WXU7, Q9ULT7
    UniProtKB/TrEMBL
    A0A384DVL8
    Related
    ENSP00000498769.1, ENST00000651296.2

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

    Range
    117427772..117817514 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011542918.2 → XP_011541220.1  cell adhesion molecule DSCAML1 isoform X2

    UniProtKB/TrEMBL
    A0A384DVL8
    Conserved Domains (8) summary
    cd00096
    Location:1231 → 1301
    Ig; Immunoglobulin domain
    cd05734
    Location:631 → 709
    Ig7_DSCAM; Seventh immunoglobulin (Ig)-like domain of Down Syndrome Cell Adhesion molecule (DSCAM)
    smart00408
    Location:164 → 225
    IGc2; Immunoglobulin C-2 Type
    smart00410
    Location:531 → 610
    IG_like; Immunoglobulin like
    cd00063
    Location:1308 → 1398
    FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
    pfam07679
    Location:157 → 235
    I-set; Immunoglobulin I-set domain
    pfam00041
    Location:1017 → 1103
    fn3; Fibronectin type III domain
    cl11960
    Location:727 → 815
    Ig; Immunoglobulin domain

  2. XM_011542917.3 → XP_011541219.1  cell adhesion molecule DSCAML1 isoform X1

    UniProtKB/TrEMBL
    A0A384DVL8
    Conserved Domains (8) summary
    cd00096
    Location:627 → 693
    Ig; Immunoglobulin domain
    cd05734
    Location:719 → 797
    Ig7_DSCAM; Seventh immunoglobulin (Ig)-like domain of Down Syndrome Cell Adhesion molecule (DSCAM)
    smart00408
    Location:252 → 313
    IGc2; Immunoglobulin C-2 Type
    smart00410
    Location:619 → 698
    IG_like; Immunoglobulin like
    cd00063
    Location:1396 → 1486
    FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
    pfam07679
    Location:245 → 323
    I-set; Immunoglobulin I-set domain
    pfam00041
    Location:1105 → 1191
    fn3; Fibronectin type III domain
    cl11960
    Location:815 → 903
    Ig; Immunoglobulin domain

  3. XM_011542919.2 → XP_011541221.1  cell adhesion molecule DSCAML1 isoform X3

    Conserved Domains (8) summary
    cd00096
    Location:880 → 950
    Ig; Immunoglobulin domain
    cd05734
    Location:280 → 358
    Ig7_DSCAM; Seventh immunoglobulin (Ig)-like domain of Down Syndrome Cell Adhesion molecule (DSCAM)
    smart00408
    Location:92 → 150
    IGc2; Immunoglobulin C-2 Type
    smart00410
    Location:180 → 259
    IG_like; Immunoglobulin like
    cd00063
    Location:957 → 1047
    FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
    pfam07679
    Location:263 → 358
    I-set; Immunoglobulin I-set domain
    pfam00041
    Location:666 → 752
    fn3; Fibronectin type III domain
    cl11960
    Location:376 → 464
    Ig; Immunoglobulin domain

  4. XM_011542924.3 → XP_011541226.1  cell adhesion molecule DSCAML1 isoform X5

    Conserved Domains (5) summary
    cd00096
    Location:524 → 594
    Ig; Immunoglobulin domain
    cd00063
    Location:601 → 691
    FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
    pfam07679
    Location:8 → 101
    I-set; Immunoglobulin I-set domain
    pfam00041
    Location:310 → 396
    fn3; Fibronectin type III domain
    cl11960
    Location:20 → 108
    Ig; Immunoglobulin domain

  5. XM_011542921.2 → XP_011541223.1  cell adhesion molecule DSCAML1 isoform X4

    Conserved Domains (5) summary
    cd00096
    Location:598 → 668
    Ig; Immunoglobulin domain
    cd00063
    Location:675 → 765
    FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
    pfam07679
    Location:82 → 175
    I-set; Immunoglobulin I-set domain
    pfam00041
    Location:384 → 470
    fn3; Fibronectin type III domain
    cl11960
    Location:94 → 182
    Ig; Immunoglobulin domain

  6. XM_011542925.2 → XP_011541227.1  cell adhesion molecule DSCAML1 isoform X6

    Conserved Domains (5) summary
    cd00096
    Location:518 → 588
    Ig; Immunoglobulin domain
    cd00063
    Location:595 → 685
    FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
    pfam07679
    Location:2 → 95
    I-set; Immunoglobulin I-set domain
    pfam00041
    Location:304 → 390
    fn3; Fibronectin type III domain
    cl11960
    Location:14 → 102
    Ig; Immunoglobulin domain

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    117444420..117833926 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054369452.1 → XP_054225427.1  cell adhesion molecule DSCAML1 isoform X2

  2. XM_054369451.1 → XP_054225426.1  cell adhesion molecule DSCAML1 isoform X1

  3. XM_054369453.1 → XP_054225428.1  cell adhesion molecule DSCAML1 isoform X3

  4. XM_054369455.1 → XP_054225430.1  cell adhesion molecule DSCAML1 isoform X5

  5. XM_054369454.1 → XP_054225429.1  cell adhesion molecule DSCAML1 isoform X4

  6. XM_054369456.1 → XP_054225431.1  cell adhesion molecule DSCAML1 isoform X6

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8TD84.2 GenPept UniProtKB/Swiss-Prot:Q8TD84

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