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Entry version 135 (11 Dec 2019)
Sequence version 2 (05 Oct 2010)
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Protein

Cell adhesion molecule-related/down-regulated by oncogenes

Gene

CDON

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

Component of a cell-surface receptor complex that mediates cell-cell interactions between muscle precursor cells. Promotes differentiation of myogenic cells (By similarity).By similarity

<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 - Biological processi

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-525793 Myogenesis
R-HSA-5632681 Ligand-receptor interactions
R-HSA-5635838 Activation of SMO

SIGNOR Signaling Network Open Resource

More...
SIGNORi
Q4KMG0

<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_and_taxonomy_section">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:
Cell adhesion molecule-related/down-regulated by oncogenes
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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:CDON
Synonyms:CDO
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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_manual">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 11

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000064309.14

Human Gene Nomenclature Database

More...
HGNCi
HGNC:17104 CDON

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
608707 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q4KMG0

<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_location_section">'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 domaini26 – 963ExtracellularSequence analysisAdd BLAST938
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'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>Transmembranei964 – 984HelicalSequence analysisAdd BLAST21
Topological domaini985 – 1287CytoplasmicSequence analysisAdd BLAST303

<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>Keywords - Cellular componenti

Cell membrane, Membrane

<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

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Holoprosencephaly 11 (HPE11)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA structural anomaly of the brain, in which the developing forebrain fails to correctly separate into right and left hemispheres. Holoprosencephaly is genetically heterogeneous and associated with several distinct facies and phenotypic variability.
Related information in OMIM
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_066497684T → S in HPE11. 1 PublicationCorresponds to variant dbSNP:rs145983470EnsemblClinVar.1
Natural variantiVAR_066498689P → A in HPE11. 1 PublicationCorresponds to variant dbSNP:rs387906995EnsemblClinVar.1
Natural variantiVAR_066499691V → M in HPE11. 1 PublicationCorresponds to variant dbSNP:rs139323558Ensembl.1
Natural variantiVAR_066500780V → E in HPE11. 1 PublicationCorresponds to variant dbSNP:rs387906996EnsemblClinVar.1
Natural variantiVAR_066501790T → A in HPE11. 1 PublicationCorresponds to variant dbSNP:rs387906997EnsemblClinVar.1
Natural variantiVAR_066502940S → R in HPE11. 1 PublicationCorresponds to variant dbSNP:rs369673018EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Holoprosencephaly

Organism-specific databases

DisGeNET

More...
DisGeNETi
50937

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...
GeneReviewsi
CDON

MalaCards human disease database

More...
MalaCardsi
CDON
MIMi614226 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000064309

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
93925 Alobar holoprosencephaly
93924 Lobar holoprosencephaly
280200 Microform holoprosencephaly
93926 Midline interhemispheric variant of holoprosencephaly
95496 Pituitary stalk interruption syndrome
220386 Semilobar holoprosencephaly
280195 Septopreoptic holoprosencephaly

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA26328

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q4KMG0 Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
CDON

Domain mapping of disease mutations (DMDM)

More...
DMDMi
308153422

<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 – 25Sequence analysisAdd BLAST25
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000023405426 – 1287Cell adhesion molecule-related/down-regulated by oncogenesAdd BLAST1262

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<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 bondi50 ↔ 97PROSITE-ProRule annotation
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">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>Glycosylationi88N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi100N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi141 ↔ 191PROSITE-ProRule annotation
Glycosylationi180N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi243 ↔ 290PROSITE-ProRule annotation
Glycosylationi287N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi294N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi333 ↔ 380PROSITE-ProRule annotation
Glycosylationi342N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi426 ↔ 500PROSITE-ProRule annotation
Glycosylationi427N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi570N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi873N-linked (GlcNAc...) asparagineSequence analysis1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">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

N-glycosylated.By similarity

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q4KMG0

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q4KMG0

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q4KMG0

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q4KMG0

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

More...
PaxDbi
Q4KMG0

PeptideAtlas

More...
PeptideAtlasi
Q4KMG0

PRoteomics IDEntifications database

More...
PRIDEi
Q4KMG0

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
62193 [Q4KMG0-1]
62194 [Q4KMG0-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q4KMG0

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

More...
PhosphoSitePlusi
Q4KMG0

<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

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000064309 Expressed in 161 organ(s), highest expression level in layer of synovial tissue

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q4KMG0 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q4KMG0 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
CAB012422
HPA017377

<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_section">'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_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Part of a complex that contains BOC, CDON, NEO1, cadherins and CTNNB1.

Interacts with NTN3 (By similarity).

Interacts with PTCH1 (By similarity).

Interacts with GAS1 (By similarity).

Interacts with DHH, IHH and SHH.

By similarity2 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">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="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Show more details

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
119165, 13 interactors

Database of interacting proteins

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DIPi
DIP-57226N

Protein interaction database and analysis system

More...
IntActi
Q4KMG0, 11 interactors

Molecular INTeraction database

More...
MINTi
Q4KMG0

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000376458

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
Q4KMG0 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

Secondary structure

11287
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

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

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SMRi
Q4KMG0

Database of comparative protein structure models

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ModBasei
Search...

Protein Data Bank in Europe - Knowledge Base

More...
PDBe-KBi
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...
EvolutionaryTracei
Q4KMG0

<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_and_domains_section">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>Domaini29 – 114Ig-like C2-type 1Add BLAST86
Domaini120 – 204Ig-like C2-type 2Add BLAST85
Domaini225 – 303Ig-like C2-type 3Add BLAST79
Domaini310 – 396Ig-like C2-type 4Add BLAST87
Domaini405 – 516Ig-like C2-type 5Add BLAST112
Domaini579 – 677Fibronectin type-III 1PROSITE-ProRule annotationAdd BLAST99
Domaini723 – 821Fibronectin type-III 2PROSITE-ProRule annotationAdd BLAST99
Domaini826 – 926Fibronectin type-III 3PROSITE-ProRule annotationAdd BLAST101

Keywords - Domaini

Immunoglobulin domain, Repeat, Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
ENOG410IHIH Eukaryota
ENOG410XSVT LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000157114

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000060072

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q4KMG0

KEGG Orthology (KO)

More...
KOi
K20033

Identification of Orthologs from Complete Genome Data

More...
OMAi
GASEYPI

Database of Orthologous Groups

More...
OrthoDBi
102649at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q4KMG0

TreeFam database of animal gene trees

More...
TreeFami
TF332268

Family and domain databases

Conserved Domains Database

More...
CDDi
cd00063 FN3, 3 hits

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
2.60.40.10, 8 hits

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR032983 CDO
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

The PANTHER Classification System

More...
PANTHERi
PTHR44170:SF1 PTHR44170:SF1, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00041 fn3, 3 hits
PF07679 I-set, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00060 FN3, 3 hits
SM00409 IG, 5 hits
SM00408 IGc2, 5 hits

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF48726 SSF48726, 5 hits
SSF49265 SSF49265, 2 hits

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS50853 FN3, 3 hits
PS50835 IG_LIKE, 5 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_length">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_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">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_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">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.<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 6 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q4KMG0-1) [UniParc]FASTAAdd to basket

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
MHPDLGPLCT LLYVTLTILC SSVSSDLAPY FTSEPLSAVQ KLGGPVVLHC
60 70 80 90 100
SAQPVTTRIS WLHNGKTLDG NLEHVKIHQG TLTILSLNSS LLGYYQCLAN
110 120 130 140 150
NSIGAIVSGP ATVSVAVLGD FGSSTKHVIT AEEKSAGFIG CRVPESNPKA
160 170 180 190 200
EVRYKIRGKW LEHSTENYLI LPSGNLQILN VSLEDKGSYK CAAYNPVTHQ
210 220 230 240 250
LKVEPIGRKL LVSRPSSDDV HILHPTHSQA LAVLSRSPVT LECVVSGVPA
260 270 280 290 300
PQVYWLKDGQ DIAPGSNWRR LYSHLATDSV DPADSGNYSC MAGNKSGDVK
310 320 330 340 350
YVTYMVNVLE HASISKGLQD QIVSLGATVH FTCDVHGNPA PNCTWFHNAQ
360 370 380 390 400
PIHPSARHLT AGNGLKISGV TVEDVGMYQC VADNGIGFMH STGRLEIEND
410 420 430 440 450
GGFKPVIITA PVSAKVADGD FVTLSCNASG LPVPVIRWYD SHGLITSHPS
460 470 480 490 500
QVLRSKSRKS QLSRPEGLNL EPVYFVLSQA GASSLHIQAV TQEHAGKYIC
510 520 530 540 550
EAANEHGTTQ AEASLMVVPF ETNTKAETVT LPDAAQNDDR SKRDGSETGL
560 570 580 590 600
LSSFPVKVHP SAVESAPEKN ASGISVPDAP IILSPPQTHT PDTYNLVWRA
610 620 630 640 650
GKDGGLPINA YFVKYRKLDD GVGMLGSWHT VRVPGSENEL HLAELEPSSL
660 670 680 690 700
YEVLMVARSA AGEGQPAMLT FRTSKEKTAS SKNTQASSPP VGIPKYPVVS
710 720 730 740 750
EAANNNFGVV LTDSSRHSGV PEAPDRPTIS TASETSVYVT WIPRANGGSP
760 770 780 790 800
ITAFKVEYKR MRTSNWLVAA EDIPPSKLSV EVRSLEPGST YKFRVIAINH
810 820 830 840 850
YGESFRSSAS RPYQVVGFPN RFSSRPITGP HIAYTEAVSD TQIMLKWTYI
860 870 880 890 900
PSSNNNTPIQ GFYIYYRPTD SDNDSDYKRD VVEGSKQWHM IGHLQPETSY
910 920 930 940 950
DIKMQCFNEG GESEFSNVMI CETKVKRVPG ASEYPVKDLS TPPNSLGSGG
960 970 980 990 1000
NVGPATSPAR SSDMLYLIVG CVLGVMVLIL MVFIAMCLWK NRQQNTIQKY
1010 1020 1030 1040 1050
DPPGYLYQGS DMNGQMVDYT TLSGASQING NVHGGFLTNG GLSSGYSHLH
1060 1070 1080 1090 1100
HKVPNAVNGI VNGSLNGGLY SGHSNSLTRT HVDFEHPHHL VNGGGMYTAV
1110 1120 1130 1140 1150
PQIDPLECVN CRNCRNNNRC FTKTNSTFSS SPPPVVPVVA PYPQDGLEMK
1160 1170 1180 1190 1200
PLSHVKVPVC LTSAVPDCGQ LPEESVKDNV EPVPTQRTCC QDIVNDVSSD
1210 1220 1230 1240 1250
GSEDPAEFSR GQEGMINLRI PDHLQLAKSC VWEGDSCAHS ETEINIVSWN
1260 1270 1280
ALILPPVPEG CAEKTMWSPP GIPLDSPTEV LQQPRET
Length:1,287
Mass (Da):139,147
Last modified:October 5, 2010 - 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:iB7870C66F5224BBE
GO
Isoform 2 (identifier: Q4KMG0-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1212-1234: Missing.

Show »
Length:1,264
Mass (Da):136,527
Checksum:i79AB36E0B52C61D7
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 6 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E9PN78E9PN78_HUMAN
Cell adhesion molecule-related/down...
CDON
641Annotation score:

Annotation score:2 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>
E9PNF2E9PNF2_HUMAN
Cell adhesion molecule-related/down...
CDON
111Annotation 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>
E9PRD8E9PRD8_HUMAN
Cell adhesion molecule-related/down...
CDON
165Annotation 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>
E9PPQ7E9PPQ7_HUMAN
Cell adhesion molecule-related/down...
CDON
142Annotation 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>
H0YEX4H0YEX4_HUMAN
Cell adhesion molecule-related/down...
CDON
650Annotation 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>
H0YCZ4H0YCZ4_HUMAN
Cell adhesion molecule-related/down...
CDON
243Annotation 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 conflicti75V → I in AAC34901 (PubMed:9214393).Curated1
Sequence conflicti75V → I in AAH98583 (PubMed:15489334).Curated1
Sequence conflicti265G → E in AAH98583 (PubMed:15489334).Curated1
Sequence conflicti300K → E in AAC34901 (PubMed:9214393).Curated1
Sequence conflicti669L → I in AAC34901 (PubMed:9214393).Curated1
Sequence conflicti1244I → N in AAH98583 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_05603866K → R. Corresponds to variant dbSNP:rs7122277EnsemblClinVar.1
Natural variantiVAR_056039162E → K. Corresponds to variant dbSNP:rs3740909EnsemblClinVar.1
Natural variantiVAR_056040351P → A. Corresponds to variant dbSNP:rs35665264EnsemblClinVar.1
Natural variantiVAR_066497684T → S in HPE11. 1 PublicationCorresponds to variant dbSNP:rs145983470EnsemblClinVar.1
Natural variantiVAR_056041686A → V. Corresponds to variant dbSNP:rs12274923EnsemblClinVar.1
Natural variantiVAR_066498689P → A in HPE11. 1 PublicationCorresponds to variant dbSNP:rs387906995EnsemblClinVar.1
Natural variantiVAR_066499691V → M in HPE11. 1 PublicationCorresponds to variant dbSNP:rs139323558Ensembl.1
Natural variantiVAR_066500780V → E in HPE11. 1 PublicationCorresponds to variant dbSNP:rs387906996EnsemblClinVar.1
Natural variantiVAR_066501790T → A in HPE11. 1 PublicationCorresponds to variant dbSNP:rs387906997EnsemblClinVar.1
Natural variantiVAR_066502940S → R in HPE11. 1 PublicationCorresponds to variant dbSNP:rs369673018EnsemblClinVar.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_0182011212 – 1234Missing in isoform 2. 1 PublicationAdd BLAST23

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
AF004841 mRNA Translation: AAC34901.2
AP000821 Genomic DNA No translation available.
AP000842 Genomic DNA No translation available.
BC098583 mRNA Translation: AAH98583.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS58192.1 [Q4KMG0-1]
CCDS8468.1 [Q4KMG0-2]

Protein sequence database of the Protein Information Resource

More...
PIRi
T03097

NCBI Reference Sequences

More...
RefSeqi
NP_001230526.1, NM_001243597.1 [Q4KMG0-1]
NP_058648.4, NM_016952.4 [Q4KMG0-2]
XP_011541164.1, XM_011542862.2 [Q4KMG0-1]
XP_011541165.1, XM_011542863.2 [Q4KMG0-1]
XP_011541166.1, XM_011542864.2 [Q4KMG0-1]
XP_011541167.1, XM_011542865.2 [Q4KMG0-1]
XP_011541168.1, XM_011542866.2 [Q4KMG0-2]
XP_016873362.1, XM_017017873.1 [Q4KMG0-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000263577; ENSP00000263577; ENSG00000064309 [Q4KMG0-2]
ENST00000392693; ENSP00000376458; ENSG00000064309 [Q4KMG0-1]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
50937

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:50937

UCSC genome browser

More...
UCSCi
uc001qdc.5 human [Q4KMG0-1]

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
AF004841 mRNA Translation: AAC34901.2
AP000821 Genomic DNA No translation available.
AP000842 Genomic DNA No translation available.
BC098583 mRNA Translation: AAH98583.1
CCDSiCCDS58192.1 [Q4KMG0-1]
CCDS8468.1 [Q4KMG0-2]
PIRiT03097
RefSeqiNP_001230526.1, NM_001243597.1 [Q4KMG0-1]
NP_058648.4, NM_016952.4 [Q4KMG0-2]
XP_011541164.1, XM_011542862.2 [Q4KMG0-1]
XP_011541165.1, XM_011542863.2 [Q4KMG0-1]
XP_011541166.1, XM_011542864.2 [Q4KMG0-1]
XP_011541167.1, XM_011542865.2 [Q4KMG0-1]
XP_011541168.1, XM_011542866.2 [Q4KMG0-2]
XP_016873362.1, XM_017017873.1 [Q4KMG0-1]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...
PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

More...
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
3D1MX-ray1.70C/D826-924[»]
3N1FX-ray1.60C/D826-924[»]
3N1QX-ray2.89C/D/F826-924[»]
SMRiQ4KMG0
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGridi119165, 13 interactors
DIPiDIP-57226N
IntActiQ4KMG0, 11 interactors
MINTiQ4KMG0
STRINGi9606.ENSP00000376458

PTM databases

iPTMnetiQ4KMG0
PhosphoSitePlusiQ4KMG0

Polymorphism and mutation databases

BioMutaiCDON
DMDMi308153422

Proteomic databases

EPDiQ4KMG0
jPOSTiQ4KMG0
MassIVEiQ4KMG0
MaxQBiQ4KMG0
PaxDbiQ4KMG0
PeptideAtlasiQ4KMG0
PRIDEiQ4KMG0
ProteomicsDBi62193 [Q4KMG0-1]
62194 [Q4KMG0-2]

Genome annotation databases

EnsembliENST00000263577; ENSP00000263577; ENSG00000064309 [Q4KMG0-2]
ENST00000392693; ENSP00000376458; ENSG00000064309 [Q4KMG0-1]
GeneIDi50937
KEGGihsa:50937
UCSCiuc001qdc.5 human [Q4KMG0-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
50937
DisGeNETi50937
EuPathDBiHostDB:ENSG00000064309.14

GeneCards: human genes, protein and diseases

More...
GeneCardsi
CDON
GeneReviewsiCDON
HGNCiHGNC:17104 CDON
HPAiCAB012422
HPA017377
MalaCardsiCDON
MIMi608707 gene
614226 phenotype
neXtProtiNX_Q4KMG0
OpenTargetsiENSG00000064309
Orphaneti93925 Alobar holoprosencephaly
93924 Lobar holoprosencephaly
280200 Microform holoprosencephaly
93926 Midline interhemispheric variant of holoprosencephaly
95496 Pituitary stalk interruption syndrome
220386 Semilobar holoprosencephaly
280195 Septopreoptic holoprosencephaly
PharmGKBiPA26328

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410IHIH Eukaryota
ENOG410XSVT LUCA
GeneTreeiENSGT00940000157114
HOGENOMiHOG000060072
InParanoidiQ4KMG0
KOiK20033
OMAiGASEYPI
OrthoDBi102649at2759
PhylomeDBiQ4KMG0
TreeFamiTF332268

Enzyme and pathway databases

ReactomeiR-HSA-525793 Myogenesis
R-HSA-5632681 Ligand-receptor interactions
R-HSA-5635838 Activation of SMO
SIGNORiQ4KMG0

Miscellaneous databases

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

More...
ChiTaRSi
CDON human
EvolutionaryTraceiQ4KMG0

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
CDON

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

More...
GenomeRNAii
50937
PharosiQ4KMG0 Tbio

Protein Ontology

More...
PROi
PR:Q4KMG0
RNActiQ4KMG0 protein

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000064309 Expressed in 161 organ(s), highest expression level in layer of synovial tissue
ExpressionAtlasiQ4KMG0 baseline and differential
GenevisibleiQ4KMG0 HS

Family and domain databases

CDDicd00063 FN3, 3 hits
Gene3Di2.60.40.10, 8 hits
InterProiView protein in InterPro
IPR032983 CDO
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
PANTHERiPTHR44170:SF1 PTHR44170:SF1, 1 hit
PfamiView protein in Pfam
PF00041 fn3, 3 hits
PF07679 I-set, 1 hit
SMARTiView protein in SMART
SM00060 FN3, 3 hits
SM00409 IG, 5 hits
SM00408 IGc2, 5 hits
SUPFAMiSSF48726 SSF48726, 5 hits
SSF49265 SSF49265, 2 hits
PROSITEiView protein in PROSITE
PS50853 FN3, 3 hits
PS50835 IG_LIKE, 5 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 nameiCDON_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: Q4KMG0
Secondary accession number(s): O14631
<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_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 2, 2006
Last sequence update: October 5, 2010
Last modified: December 11, 2019
This is version 135 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

3D-structure, Reference proteome

Documents

  1. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  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
  5. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
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