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

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; 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

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_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Potential involvement of DSCAML1 mutations in neurodevelopmental disorders.
Title: Potential involvement of DSCAML1 mutations in neurodevelopmental disorders.
DSCAML1 protein rs680730 SNP is associated with poor sperm morphology.
Title: Variants in DPF3 and DSCAML1 are associated with sperm morphology.
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.
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.
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.
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.

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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 EBI GWAS CatalogPubMed
Genome-wide association study of age at menarche in African-American women. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D11S1091 (e-PCR)
- UniSTS:29698

D11S3345 (e-PCR)
- UniSTS:152587

D11S2085 (e-PCR)
- UniSTS:150046

DSCAML1__4777 (e-PCR)
- UniSTS:462880

D11S4559 (e-PCR)
- UniSTS:4898

D11S4127 (e-PCR)
- UniSTS:19239

G54698 (e-PCR)
- UniSTS:117800

SHGC-34966 (e-PCR)
- UniSTS:72496

D11S3005 (e-PCR)
- UniSTS:152112

SHGC-147206 (e-PCR)
- UniSTS:175678

D11S1373 (e-PCR)
- UniSTS:148545

WI-14137 (e-PCR)
- UniSTS:20289

D11S1376 (e-PCR)
- UniSTS:148548

D11S1163 (e-PCR)
- UniSTS:33352

D11S2060 (e-PCR)
- UniSTS:34898

D11S2472 (e-PCR)
- UniSTS:14441

G59923 (e-PCR)
- UniSTS:137066

SHGC-144571 (e-PCR)
- UniSTS:182404

RH68617 (e-PCR)
- UniSTS:19356

SHGC-141970 (e-PCR)
- UniSTS:171167

SHGC-105111 (e-PCR)
- UniSTS:169124

D10Bir8 (e-PCR), detects polymorphism
- UniSTS:141487

RH120709 (e-PCR)
- UniSTS:132790

SHGC-78717 (e-PCR)
- UniSTS:100796

D11S4026 (e-PCR)
- UniSTS:52413

D11S1858 (e-PCR)
- UniSTS:148932

G60568 (e-PCR)
- UniSTS:137674

SHGC-30873 (e-PCR)
- UniSTS:720

D11S2829 (e-PCR)
- UniSTS:152017

D11S2060 (e-PCR)
- UniSTS:56279

D11S29 (e-PCR)
- UniSTS:91102

SHGC-31198 (e-PCR)
- UniSTS:75487

D11S490 (e-PCR)
- UniSTS:23790

D11S4473 (e-PCR)
- UniSTS:473585

D11S4092 (e-PCR), detects polymorphism
- UniSTS:53492

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 more info	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

NG_051656.2 RefSeqGene

Range

25298..394742

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

Status: REVIEWED

Source sequence(s)

AP000757, AP002342
NM_001367905.1 → NP_001354834.1 cell adhesion molecule DSCAML1 isoform 3

Status: REVIEWED

Source sequence(s)

AK025940, AP000757, AP002342
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

NC_000011.10 Reference GRCh38.p14 Primary Assembly

Range

117427772..117817514 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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
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
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
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
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