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

    Gene ID: 57453, updated on 2-Nov-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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    See DSCAML1 in Genome Data Viewer
    Location:
    11q23.3
    Exon count:
    40
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (117427772..117817514, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (117444420..117833926, complement)
    RS_2024_09 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 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. Mammalian DSCAMs: roles in the development of the spinal cord, cortex, and cerebellum? Barlow GM, et al. Biochem Biophys Res Commun, 2002 May 10. PMID 12051741

    See all (21) 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 Variation Viewer (GRCh37.p13)

    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_2024_08

    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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