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UniProtKB - O60469 (DSCAM_HUMAN)

Entry version 191 (12 Aug 2020)
Sequence version 2 (01 Dec 2000)
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Protein

Down syndrome cell adhesion molecule

Gene

DSCAM

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Cell adhesion molecule that plays a role in neuronal self-avoidance. Promotes repulsion between specific neuronal processes of either the same cell or the same subtype of cells. Mediates within retinal amacrine and ganglion cell subtypes both isoneuronal self-avoidance for creating an orderly dendritic arborization and heteroneuronal self-avoidance to maintain the mosaic spacing between amacrine and ganglion cell bodies (PubMed:10925149). Receptor for netrin required for axon guidance independently of and in collaboration with the receptor DCC. Might also collaborate with UNC5C in NTN1-mediated axon repulsion independently of DCC (By similarity). In spinal cord development plays a role in guiding commissural axons projection and pathfinding across the ventral midline to reach the floor plate upon ligand binding (PubMed:18585357, PubMed:19196994). Enhances netrin-induced phosphorylation of PAK1 and FYN (PubMed:15169762). Mediates intracellular signaling by stimulating the activation of MAPK8 and MAP kinase p38 (PubMed:18585357, PubMed:19196994). 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).By similarity4 Publications

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Biological processCell adhesion, Neurogenesis

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		O60469

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-376172, DSCAM interactions

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Down syndrome cell adhesion molecule
Alternative name(s):
CHD2
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:DSCAM
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 21

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...EuPathDBi		HostDB:ENSG00000171587.14

Human Gene Nomenclature Database

More...HGNCi		HGNC:3039, DSCAM

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		602523, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_O60469

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini18 – 1595ExtracellularSequence analysisAdd BLAST1578
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei1596 – 1616HelicalSequence analysisAdd BLAST21
Topological domaini1617 – 2012CytoplasmicSequence analysisAdd BLAST396

Keywords - Cellular componenti

Cell junction, Cell membrane, Cell projection, Membrane, Secreted, Synapse

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Organism-specific databases

DisGeNET

More...DisGeNETi		1826

Open Targets

More...OpenTargetsi		ENSG00000171587

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA27491

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		O60469, Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		DSCAM

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section denotes the presence of an N-terminal signal peptide.<p><a href='/help/signal' target='_top'>More...</a></p>Signal peptidei1 – 17Sequence analysisAdd BLAST17
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000001474718 – 2012Down syndrome cell adhesion moleculeAdd BLAST1995

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi28N-linked (GlcNAc...) asparagineSequence analysis1
<p>This subsection of the PTM / Processing":/help/ptm_processing_section section describes the positions of cysteine residues participating in disulfide bonds.<p><a href='/help/disulfid' target='_top'>More...</a></p>Disulfide bondi46 ↔ 102PROSITE-ProRule annotation
Glycosylationi78N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi145 ↔ 197PROSITE-ProRule annotation
Disulfide bondi246 ↔ 293PROSITE-ProRule annotation
Disulfide bondi335 ↔ 385PROSITE-ProRule annotation
Disulfide bondi428 ↔ 484PROSITE-ProRule annotation
Glycosylationi470N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi487N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi512N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi525 ↔ 575PROSITE-ProRule annotation
Glycosylationi556N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi617 ↔ 669PROSITE-ProRule annotation
Glycosylationi658N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi666N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi710N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi711 ↔ 766PROSITE-ProRule annotation
Glycosylationi748N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi795N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi809 ↔ 865PROSITE-ProRule annotation
Glycosylationi924N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1142N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1160N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1250N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1271N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi1307 ↔ 1359PROSITE-ProRule annotation
Glycosylationi1341N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1488N-linked (GlcNAc...) asparagineSequence analysis1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Phosphorylated at tyrosine residues. Phosphorylation is enhanced by NTN1.1 Publication

Keywords - PTMi

Disulfide bond, Glycoprotein, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		O60469

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		O60469

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		O60469

PeptideAtlas

More...PeptideAtlasi		O60469

PRoteomics IDEntifications database

More...PRIDEi		O60469

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		49414 [O60469-1]
49415 [O60469-2]

PTM databases

GlyGen: Computational and Informatics Resources for Glycoscience

More...GlyGeni		O60469, 18 sites

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		O60469

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		O60469

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Primarily expressed in brain.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000171587, Expressed in endometrium epithelium and 73 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		O60469, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		O60469, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000171587, Group enriched (brain, pituitary gland)

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Homodimer; mediates homophilic interactions to promote cell adhesion (By similarity).

Interacts with DCC; the interaction is abolished in response to NTN1 (By similarity).

Interacts (via extracellular domain) with NTN1 (PubMed:19196994). Probably found in a ternary complex composed of DSCAM, PAK1 and RAC1 (PubMed:15169762).

Interacts (via cytoplasmic domain) with PAK1; the interaction is direct and enhanced in presence of RAC1 (PubMed:15169762).

Interacts with RAC1; the interaction requires PAK1 (PubMed:15169762).

Interacts (via extracellular domain) with UNC5C (via Ig-like C2-type domain) (PubMed:22685302).

Interacts with PTK2 (By similarity).

Interacts with FYN (By similarity).

By similarity3 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		108160, 1 interactor

Protein interaction database and analysis system

More...IntActi		O60469, 1 interactor

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000383303

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		O60469, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		O60469

Database of comparative protein structure models

More...ModBasei		Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family%5Fand%5Fdomains%5Fsection">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini39 – 129Ig-like C2-type 1Add BLAST91
Domaini125 – 216Ig-like C2-type 2Add BLAST92
Domaini225 – 305Ig-like C2-type 3Add BLAST81
Domaini313 – 401Ig-like C2-type 4Add BLAST89
Domaini407 – 500Ig-like C2-type 5Add BLAST94
Domaini504 – 592Ig-like C2-type 6Add BLAST89
Domaini596 – 685Ig-like C2-type 7Add BLAST90
Domaini690 – 783Ig-like C2-type 8Add BLAST94
Domaini787 – 883Ig-like C2-type 9Add BLAST97
Domaini885 – 982Fibronectin type-III 1PROSITE-ProRule annotationAdd BLAST98
Domaini987 – 1086Fibronectin type-III 2PROSITE-ProRule annotationAdd BLAST100
Domaini1091 – 1187Fibronectin type-III 3PROSITE-ProRule annotationAdd BLAST97
Domaini1191 – 1285Fibronectin type-III 4PROSITE-ProRule annotationAdd BLAST95
Domaini1285 – 1377Ig-like C2-type 10Add BLAST93
Domaini1379 – 1473Fibronectin type-III 5PROSITE-ProRule annotationAdd BLAST95
Domaini1474 – 1575Fibronectin type-III 6PROSITE-ProRule annotationAdd BLAST102

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni1617 – 2012Required for netrin-mediated axon repulsion of neuronal growth conesBy similarityAdd BLAST396

<p>This subsection of the 'Family and domains' section provides general information on the biological role of a domain. The term 'domain' is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

Ig-like C2-type domains 7 to 9 are sufficient for interaction with NTN1 and commissural axon outgrowth. The transmembrane domain is necessary for interaction with DCC (By similarity).By similarity

Keywords - Domaini

Immunoglobulin domain, Repeat, Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG3510, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00940000154678

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_001038_0_1_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		O60469

KEGG Orthology (KO)

More...KOi		K06767

Identification of Orthologs from Complete Genome Data

More...OMAi		HMVRSDG

Database of Orthologous Groups

More...OrthoDBi		14047at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		O60469

TreeFam database of animal gene trees

More...TreeFami		TF316846

Family and domain databases

Conserved Domains Database

More...CDDi		cd00063, FN3, 6 hits

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		2.60.40.10, 16 hits

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR043204, Basigin-like
IPR033027, DSCAM_chordates
IPR003961, FN3_dom
IPR036116, FN3_sf
IPR007110, Ig-like_dom
IPR036179, Ig-like_dom_sf
IPR013783, Ig-like_fold
IPR013098, Ig_I-set
IPR003599, Ig_sub
IPR003598, Ig_sub2
IPR013106, Ig_V-set

The PANTHER Classification System

More...PANTHERi		PTHR10075, PTHR10075, 1 hit
PTHR10075:SF51, PTHR10075:SF51, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF00041, fn3, 5 hits
PF07679, I-set, 5 hits

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00060, FN3, 6 hits
SM00409, IG, 9 hits
SM00408, IGc2, 9 hits
SM00406, IGv, 3 hits

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF48726, SSF48726, 9 hits
SSF49265, SSF49265, 3 hits

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS50853, FN3, 6 hits
PS50835, IG_LIKE, 9 hits

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform Long (identifier: O60469-1) [UniParc]FASTAAdd to basket
Also known as: CHD2-42

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MWILALSLFQ SFANVFSEDL HSSLYFVNAS LQEVVFASTT GTLVPCPAAG 
        60         70         80         90        100
IPPVTLRWYL ATGEEIYDVP GIRHVHPNGT LQIFPFPPSS FSTLIHDNTY 
       110        120        130        140        150
YCTAENPSGK IRSQDVHIKA VLREPYTVRV EDQKTMRGNV AVFKCIIPSS 
       160        170        180        190        200
VEAYITVVSW EKDTVSLVSG SRFLITSTGA LYIKDVQNED GLYNYRCITR 
       210        220        230        240        250
HRYTGETRQS NSARLFVSDP ANSAPSILDG FDHRKAMAGQ RVELPCKALG 
       260        270        280        290        300
HPEPDYRWLK DNMPLELSGR FQKTVTGLLI ENIRPSDSGS YVCEVSNRYG 
       310        320        330        340        350
TAKVIGRLYV KQPLKATISP RKVKSSVGSQ VSLSCSVTGT EDQELSWYRN 
       360        370        380        390        400
GEILNPGKNV RITGINHENL IMDHMVKSDG GAYQCFVRKD KLSAQDYVQV 
       410        420        430        440        450
VLEDGTPKII SAFSEKVVSP AEPVSLMCNV KGTPLPTITW TLDDDPILKG 
       460        470        480        490        500
GSHRISQMIT SEGNVVSYLN ISSSQVRDGG VYRCTANNSA GVVLYQARIN 
       510        520        530        540        550
VRGPASIRPM KNITAIAGRD TYIHCRVIGY PYYSIKWYKN SNLLPFNHRQ 
       560        570        580        590        600
VAFENNGTLK LSDVQKEVDE GEYTCNVLVQ PQLSTSQSVH VTVKVPPFIQ 
       610        620        630        640        650
PFEFPRFSIG QRVFIPCVVV SGDLPITITW QKDGRPIPGS LGVTIDNIDF 
       660        670        680        690        700
TSSLRISNLS LMHNGNYTCI ARNEAAAVEH QSQLIVRVPP KFVVQPRDQD 
       710        720        730        740        750
GIYGKAVILN CSAEGYPVPT IVWKFSKGAG VPQFQPIALN GRIQVLSNGS 
       760        770        780        790        800
LLIKHVVEED SGYYLCKVSN DVGADVSKSM YLTVKIPAMI TSYPNTTLAT 
       810        820        830        840        850
QGQKKEMSCT AHGEKPIIVR WEKEDRIINP EMARYLVSTK EVGEEVISTL 
       860        870        880        890        900
QILPTVREDS GFFSCHAINS YGEDRGIIQL TVQEPPDPPE IEIKDVKART 
       910        920        930        940        950
ITLRWTMGFD GNSPITGYDI ECKNKSDSWD SAQRTKDVSP QLNSATIIDI 
       960        970        980        990       1000
HPSSTYSIRM YAKNRIGKSE PSNELTITAD EAAPDGPPQE VHLEPISSQS 
      1010       1020       1030       1040       1050
IRVTWKAPKK HLQNGIIRGY QIGYREYSTG GNFQFNIISV DTSGDSEVYT 
      1060       1070       1080       1090       1100
LDNLNKFTQY GLVVQACNRA GTGPSSQEII TTTLEDVPSY PPENVQAIAT 
      1110       1120       1130       1140       1150
SPESISISWS TLSKEALNGI LQGFRVIYWA NLMDGELGEI KNITTTQPSL 
      1160       1170       1180       1190       1200
ELDGLEKYTN YSIQVLAFTR AGDGVRSEQI FTRTKEDVPG PPAGVKAAAA 
      1210       1220       1230       1240       1250
SASMVFVSWL PPLKLNGIIR KYTVFCSHPY PTVISEFEAS PDSFSYRIPN 
      1260       1270       1280       1290       1300
LSRNRQYSVW VVAVTSAGRG NSSEIITVEP LAKAPARILT FSGTVTTPWM 
      1310       1320       1330       1340       1350
KDIVLPCKAV GDPSPAVKWM KDSNGTPSLV TIDGRRSIFS NGSFIIRTVK 
      1360       1370       1380       1390       1400
AEDSGYYSCI ANNNWGSDEI ILNLQVQVPP DQPRLTVSKT TSSSITLSWL 
      1410       1420       1430       1440       1450
PGDNGGSSIR GYILQYSEDN SEQWGSFPIS PSERSYRLEN LKCGTWYKFT 
      1460       1470       1480       1490       1500
LTAQNGVGPG RISEIIEAKT LGKEPQFSKE QELFASINTT RVRLNLIGWN 
      1510       1520       1530       1540       1550
DGGCPITSFT LEYRPFGTTV WTTAQRTSLS KSYILYDLQE ATWYELQMRV 
      1560       1570       1580       1590       1600
CNSAGCAEKQ ANFATLNYDG STIPPLIKSV VQNEEGLTTN EGLKMLVTIS 
      1610       1620       1630       1640       1650
CILVGVLLLF VLLLVVRRRR REQRLKRLRD AKSLAEMLMS KNTRTSDTLS 
      1660       1670       1680       1690       1700
KQQQTLRMHI DIPRAQLLIE ERDTMETIDD RSTVLLTDAD FGEAAKQKSL 
      1710       1720       1730       1740       1750
TVTHTVHYQS VSQATGPLVD VSDARPGTNP TTRRNAKAGP TARNRYASQW 
      1760       1770       1780       1790       1800
TLNRPHPTIS AHTLTTDWRL PTPRAAGSVD KESDSYSVSP SQDTDRARSS 
      1810       1820       1830       1840       1850
MVSTESASST YEELARAYEH AKMEEQLRHA KFTITECFIS DTSSEQLTAG 
      1860       1870       1880       1890       1900
TNEYTDSLTS STPSESGICR FTASPPKPQD GGRVMNMAVP KAHRPGDLIH 
      1910       1920       1930       1940       1950
LPPYLRMDFL LNRGGPGTSR DLSLGQACLE PQKSRTLKRP TVLEPIPMEA 
      1960       1970       1980       1990       2000
ASSASSTREG QSWQPGAVAT LPQREGAELG QAAKMSSSQE SLLDSRGHLK 
      2010 
GNNPYAKSYT LV
Length:2,012
Mass (Da):222,260
Last modified:December 1, 2000 - v2
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i0E33CFB781A08334
GO
Isoform Short (identifier: O60469-2) [UniParc]FASTAAdd to basket
Also known as: CHD2-52

The sequence of this isoform differs from the canonical sequence as follows:
     1562-1571: NFATLNYDGS → KEAARCKEFS
     1572-2012: Missing.

Show »
Length:1,571
Mass (Da):173,804
Checksum:i4B065ABB67B01110
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
Q8WY19Q8WY19_HUMAN
Down syndrome cell adhesion molecul...
DSCAM
1,746Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A087WUI7A0A087WUI7_HUMAN
Down syndrome cell adhesion molecul...
DSCAM
1,847Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti1893 – 2012HRPGD…SYTLV → IGQVTSYICLHTLEWTFC in AAC17966 (PubMed:9426258).CuratedAdd BLAST120

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_020080232D → E. Corresponds to variant dbSNP:rs2297270Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0025021562 – 1571NFATLNYDGS → KEAARCKEFS in isoform Short. Curated10
Alternative sequenceiVSP_0025031572 – 2012Missing in isoform Short. CuratedAdd BLAST441

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
Links Updated
AF023450 mRNA Translation: AAC17967.1
AF023449 mRNA Translation: AAC17966.1
AF217525 mRNA Translation: AAF27525.1
AL163283 Genomic DNA Translation: CAB90464.1
AL163282 Genomic DNA Translation: CAB90436.1
AL163281 Genomic DNA Translation: CAB90444.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS42929.1 [O60469-1]

NCBI Reference Sequences

More...RefSeqi		NP_001380.2, NM_001389.3 [O60469-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000400454; ENSP00000383303; ENSG00000171587 [O60469-1]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		1826

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:1826

UCSC genome browser

More...UCSCi		uc002yyq.2, human [O60469-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF023450 mRNA Translation: AAC17967.1
AF023449 mRNA Translation: AAC17966.1
AF217525 mRNA Translation: AAF27525.1
AL163283 Genomic DNA Translation: CAB90464.1
AL163282 Genomic DNA Translation: CAB90436.1
AL163281 Genomic DNA Translation: CAB90444.1
CCDSiCCDS42929.1 [O60469-1]
RefSeqiNP_001380.2, NM_001389.3 [O60469-1]

3D structure databases

SMRiO60469
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi108160, 1 interactor
IntActiO60469, 1 interactor
STRINGi9606.ENSP00000383303

PTM databases

GlyGeniO60469, 18 sites
iPTMnetiO60469
PhosphoSitePlusiO60469

Polymorphism and mutation databases

BioMutaiDSCAM

Proteomic databases

EPDiO60469
jPOSTiO60469
PaxDbiO60469
PeptideAtlasiO60469
PRIDEiO60469
ProteomicsDBi49414 [O60469-1]
49415 [O60469-2]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		23484, 157 antibodies

Genome annotation databases

EnsembliENST00000400454; ENSP00000383303; ENSG00000171587 [O60469-1]
GeneIDi1826
KEGGihsa:1826
UCSCiuc002yyq.2, human [O60469-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		1826
DisGeNETi1826
EuPathDBiHostDB:ENSG00000171587.14

GeneCards: human genes, protein and diseases

More...GeneCardsi		DSCAM
HGNCiHGNC:3039, DSCAM
HPAiENSG00000171587, Group enriched (brain, pituitary gland)
MIMi602523, gene
neXtProtiNX_O60469
OpenTargetsiENSG00000171587
PharmGKBiPA27491

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG3510, Eukaryota
GeneTreeiENSGT00940000154678
HOGENOMiCLU_001038_0_1_1
InParanoidiO60469
KOiK06767
OMAiHMVRSDG
OrthoDBi14047at2759
PhylomeDBiO60469
TreeFamiTF316846

Enzyme and pathway databases

PathwayCommonsiO60469
ReactomeiR-HSA-376172, DSCAM interactions

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		1826, 2 hits in 871 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		DSCAM, human

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		1826
PharosiO60469, Tbio

Protein Ontology

More...PROi		PR:O60469
RNActiO60469, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000171587, Expressed in endometrium epithelium and 73 other tissues
ExpressionAtlasiO60469, baseline and differential
GenevisibleiO60469, HS

Family and domain databases

CDDicd00063, FN3, 6 hits
Gene3Di2.60.40.10, 16 hits
InterProiView protein in InterPro
IPR043204, Basigin-like
IPR033027, DSCAM_chordates
IPR003961, FN3_dom
IPR036116, FN3_sf
IPR007110, Ig-like_dom
IPR036179, Ig-like_dom_sf
IPR013783, Ig-like_fold
IPR013098, Ig_I-set
IPR003599, Ig_sub
IPR003598, Ig_sub2
IPR013106, Ig_V-set
PANTHERiPTHR10075, PTHR10075, 1 hit
PTHR10075:SF51, PTHR10075:SF51, 1 hit
PfamiView protein in Pfam
PF00041, fn3, 5 hits
PF07679, I-set, 5 hits
SMARTiView protein in SMART
SM00060, FN3, 6 hits
SM00409, IG, 9 hits
SM00408, IGc2, 9 hits
SM00406, IGv, 3 hits
SUPFAMiSSF48726, SSF48726, 9 hits
SSF49265, SSF49265, 3 hits
PROSITEiView protein in PROSITE
PS50853, FN3, 6 hits
PS50835, IG_LIKE, 9 hits

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiDSCAM_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: O60469
Secondary accession number(s): O60468
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 1, 2000
Last sequence update: December 1, 2000
Last modified: August 12, 2020
This is version 191 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Reference proteome

Documents

  1. Human chromosome 21
    Human chromosome 21: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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