Format

Send to:

Choose Destination

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

Gene ID: 57453, updated on 12-Aug-2018

Summary

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; Vega:OTTHUMG00000167071
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

Genomic context

See DSCAML1 in Genome Data Viewer
Location:
11q23.3
Exon count:
37
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 11 NC_000011.10 (117427772..117797261, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (117298489..117667976, complement)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene BACE1 antisense RNA Neighboring gene beta-secretase 1 Neighboring gene centrosomal protein 164 Neighboring gene proline rich 13 pseudogene 3 Neighboring gene uncharacterized LOC105369515 Neighboring gene uncharacterized LOC107984394 Neighboring gene FXYD6-FXYD2 readthrough Neighboring gene FXYD domain containing ion transport regulator 2

Genomic regions, transcripts, and products

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

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

Pathways from BioSystems

  • Cell-Cell communication, organism-specific biosystem (from REACTOME)
    Cell-Cell communication, organism-specific biosystemCell-to-Cell communication is crucial for multicellular organisms because it allows organisms to coordinate the activity of their cells. Some cell-to-cell communication requires direct cell-cell cont...
  • DSCAM interactions, organism-specific biosystem (from REACTOME)
    DSCAM interactions, organism-specific biosystemDSCAM (Down syndrome cell adhesion molecule) is one of the members of the Ig superfamily CAMs with a domain architecture comprising 10 Ig domains, 6 fibronectin type III (FN) repeats, a single transm...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA1132

Gene Ontology Provided by GOA

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

General protein information

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

NCBI Reference Sequences (RefSeq)

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_051656.1 RefSeqGene

    Range
    5001..374490
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_020693.3NP_065744.2  Down syndrome cell adhesion molecule-like protein 1

    See identical proteins and their annotated locations for NP_065744.2

    Status: REVIEWED

    Source sequence(s)
    AF491813, AP002342, BM665756
    Consensus CDS
    CCDS8384.1
    UniProtKB/Swiss-Prot
    Q8TD84
    Related
    ENSP00000315465.6, OTTHUMP00000235017, ENST00000321322.6, OTTHUMT00000392907
    Conserved Domains (8) summary
    cd00096
    Location:13671437
    Ig; Immunoglobulin domain
    cd05734
    Location:767845
    Ig7_DSCAM; Seventh immunoglobulin (Ig)-like domain of Down Syndrome Cell Adhesion molecule (DSCAM)
    smart00408
    Location:300361
    IGc2; Immunoglobulin C-2 Type
    smart00410
    Location:667746
    IG_like; Immunoglobulin like
    cd00063
    Location:14441534
    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:293371
    I-set; Immunoglobulin I-set domain
    pfam00041
    Location:11531239
    fn3; Fibronectin type III domain
    cl11960
    Location:863951
    Ig; Immunoglobulin domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p12 Primary Assembly

    Range
    117427772..117797261 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011542917.2XP_011541219.1  Down syndrome cell adhesion molecule-like protein 1 isoform X1

    Related
    ENSP00000434335.1, ENST00000527706.5
    Conserved Domains (8) summary
    cd00096
    Location:627693
    Ig; Immunoglobulin domain
    cd05734
    Location:719797
    Ig7_DSCAM; Seventh immunoglobulin (Ig)-like domain of Down Syndrome Cell Adhesion molecule (DSCAM)
    smart00408
    Location:252313
    IGc2; Immunoglobulin C-2 Type
    smart00410
    Location:619698
    IG_like; Immunoglobulin like
    cd00063
    Location:13961486
    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:245323
    I-set; Immunoglobulin I-set domain
    pfam00041
    Location:11051191
    fn3; Fibronectin type III domain
    cl11960
    Location:815903
    Ig; Immunoglobulin domain
  2. XM_011542918.1XP_011541220.1  Down syndrome cell adhesion molecule-like protein 1 isoform X2

    Related
    OTTHUMP00000235053, OTTHUMT00000392953
    Conserved Domains (8) summary
    cd00096
    Location:12311301
    Ig; Immunoglobulin domain
    cd05734
    Location:631709
    Ig7_DSCAM; Seventh immunoglobulin (Ig)-like domain of Down Syndrome Cell Adhesion molecule (DSCAM)
    smart00408
    Location:164225
    IGc2; Immunoglobulin C-2 Type
    smart00410
    Location:531610
    IG_like; Immunoglobulin like
    cd00063
    Location:13081398
    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:157235
    I-set; Immunoglobulin I-set domain
    pfam00041
    Location:10171103
    fn3; Fibronectin type III domain
    cl11960
    Location:727815
    Ig; Immunoglobulin domain
  3. XM_011542920.2XP_011541222.1  Down syndrome cell adhesion molecule-like protein 1 isoform X4

    Conserved Domains (8) summary
    cd00096
    Location:797867
    Ig; Immunoglobulin domain
    cd05734
    Location:197275
    Ig7_DSCAM; Seventh immunoglobulin (Ig)-like domain of Down Syndrome Cell Adhesion molecule (DSCAM)
    smart00408
    Location:967
    IGc2; Immunoglobulin C-2 Type
    smart00410
    Location:97176
    IG_like; Immunoglobulin like
    cd00063
    Location:874964
    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:180275
    I-set; Immunoglobulin I-set domain
    pfam00041
    Location:583669
    fn3; Fibronectin type III domain
    cl11960
    Location:293381
    Ig; Immunoglobulin domain
  4. XM_011542919.2XP_011541221.1  Down syndrome cell adhesion molecule-like protein 1 isoform X3

    Conserved Domains (8) summary
    cd00096
    Location:880950
    Ig; Immunoglobulin domain
    cd05734
    Location:280358
    Ig7_DSCAM; Seventh immunoglobulin (Ig)-like domain of Down Syndrome Cell Adhesion molecule (DSCAM)
    smart00408
    Location:92150
    IGc2; Immunoglobulin C-2 Type
    smart00410
    Location:180259
    IG_like; Immunoglobulin like
    cd00063
    Location:9571047
    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:263358
    I-set; Immunoglobulin I-set domain
    pfam00041
    Location:666752
    fn3; Fibronectin type III domain
    cl11960
    Location:376464
    Ig; Immunoglobulin domain
  5. XM_011542924.2XP_011541226.1  Down syndrome cell adhesion molecule-like protein 1 isoform X6

    Conserved Domains (5) summary
    cd00096
    Location:524594
    Ig; Immunoglobulin domain
    cd00063
    Location:601691
    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:8101
    I-set; Immunoglobulin I-set domain
    pfam00041
    Location:310396
    fn3; Fibronectin type III domain
    cl11960
    Location:20108
    Ig; Immunoglobulin domain
  6. XM_011542921.2XP_011541223.1  Down syndrome cell adhesion molecule-like protein 1 isoform X5

    Conserved Domains (5) summary
    cd00096
    Location:598668
    Ig; Immunoglobulin domain
    cd00063
    Location:675765
    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:82175
    I-set; Immunoglobulin I-set domain
    pfam00041
    Location:384470
    fn3; Fibronectin type III domain
    cl11960
    Location:94182
    Ig; Immunoglobulin domain
  7. XM_011542925.2XP_011541227.1  Down syndrome cell adhesion molecule-like protein 1 isoform X7

    Conserved Domains (5) summary
    cd00096
    Location:518588
    Ig; Immunoglobulin domain
    cd00063
    Location:595685
    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:295
    I-set; Immunoglobulin I-set domain
    pfam00041
    Location:304390
    fn3; Fibronectin type III domain
    cl11960
    Location:14102
    Ig; Immunoglobulin domain
Support Center