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Q4KMG0

- CDON_HUMAN

UniProt

Q4KMG0 - CDON_HUMAN

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Protein

Cell adhesion molecule-related/down-regulated by oncogenes

Gene

CDON

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

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

GO - Biological processi

  1. anterior/posterior pattern specification Source: Ensembl
  2. cell adhesion Source: UniProtKB
  3. cell fate specification Source: Ensembl
  4. cerebral cortex development Source: Ensembl
  5. embryonic body morphogenesis Source: Ensembl
  6. embryonic retina morphogenesis in camera-type eye Source: Ensembl
  7. lens development in camera-type eye Source: Ensembl
  8. muscle cell differentiation Source: Reactome
  9. myoblast fusion Source: Ensembl
  10. positive regulation of MAPK cascade Source: Ensembl
  11. positive regulation of muscle cell differentiation Source: Reactome
  12. positive regulation of neural precursor cell proliferation Source: Ensembl
  13. positive regulation of neuron differentiation Source: Ensembl
  14. positive regulation of protein phosphorylation Source: Ensembl
  15. positive regulation of skeletal muscle tissue development Source: Ensembl
  16. positive regulation of small GTPase mediated signal transduction Source: Ensembl
  17. positive regulation of transcription from RNA polymerase II promoter Source: Ensembl
  18. regulation of protein heterodimerization activity Source: Ensembl
  19. skeletal muscle satellite cell differentiation Source: Ensembl
  20. smoothened signaling pathway Source: Ensembl
Complete GO annotation...

Enzyme and pathway databases

ReactomeiREACT_21402. CDO in myogenesis.

Names & Taxonomyi

Protein namesi
Recommended name:
Cell adhesion molecule-related/down-regulated by oncogenes
Gene namesi
Name:CDON
Synonyms:CDO
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 11

Organism-specific databases

HGNCiHGNC:17104. CDON.

Subcellular locationi

Cell membrane By similarity; Single-pass membrane protein By similarity

GO - Cellular componenti

  1. integral component of membrane Source: UniProtKB-KW
  2. plasma membrane Source: Reactome
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Involvement in diseasei

Holoprosencephaly 11 (HPE11) [MIM:614226]: A 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.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti684 – 6841T → S in HPE11. 1 Publication
Corresponds to variant rs145983470 [ dbSNP | Ensembl ].
VAR_066497
Natural varianti689 – 6891P → A in HPE11. 1 Publication
VAR_066498
Natural varianti691 – 6911V → M in HPE11. 1 Publication
VAR_066499
Natural varianti780 – 7801V → E in HPE11. 1 Publication
VAR_066500
Natural varianti790 – 7901T → A in HPE11. 1 Publication
VAR_066501
Natural varianti940 – 9401S → R in HPE11. 1 Publication
VAR_066502

Keywords - Diseasei

Disease mutation, Holoprosencephaly

Organism-specific databases

MIMi614226. phenotype.
Orphaneti93925. Alobar holoprosencephaly.
93924. Lobar holoprosencephaly.
280200. Microform holoprosencephaly.
93926. Midline interhemispheric variant of holoprosencephaly.
220386. Semilobar holoprosencephaly.
280195. Septopreoptic holoprosencephaly.
PharmGKBiPA26328.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 2525Sequence AnalysisAdd
BLAST
Chaini26 – 12871262Cell adhesion molecule-related/down-regulated by oncogenesPRO_0000234054Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Disulfide bondi50 ↔ 97PROSITE-ProRule annotation
Glycosylationi88 – 881N-linked (GlcNAc...)Sequence Analysis
Glycosylationi100 – 1001N-linked (GlcNAc...)Sequence Analysis
Disulfide bondi141 ↔ 191PROSITE-ProRule annotation
Glycosylationi180 – 1801N-linked (GlcNAc...)Sequence Analysis
Disulfide bondi243 ↔ 290PROSITE-ProRule annotation
Glycosylationi287 – 2871N-linked (GlcNAc...)Sequence Analysis
Glycosylationi294 – 2941N-linked (GlcNAc...)Sequence Analysis
Disulfide bondi333 ↔ 380PROSITE-ProRule annotation
Glycosylationi342 – 3421N-linked (GlcNAc...)Sequence Analysis
Disulfide bondi426 ↔ 500PROSITE-ProRule annotation
Glycosylationi427 – 4271N-linked (GlcNAc...)Sequence Analysis
Glycosylationi570 – 5701N-linked (GlcNAc...)Sequence Analysis
Glycosylationi873 – 8731N-linked (GlcNAc...)Sequence Analysis

Post-translational modificationi

N-glycosylated.By similarity

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

MaxQBiQ4KMG0.
PaxDbiQ4KMG0.
PRIDEiQ4KMG0.

PTM databases

PhosphoSiteiQ4KMG0.

Expressioni

Gene expression databases

BgeeiQ4KMG0.
CleanExiHS_CDON.
ExpressionAtlasiQ4KMG0. baseline and differential.
GenevestigatoriQ4KMG0.

Organism-specific databases

HPAiCAB012422.
HPA017377.

Interactioni

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

Binary interactionsi

WithEntry#Exp.IntActNotes
ABL1P005192EBI-7016840,EBI-375543

Protein-protein interaction databases

BioGridi119165. 5 interactions.
DIPiDIP-57226N.
IntActiQ4KMG0. 1 interaction.
MINTiMINT-2795255.
STRINGi9606.ENSP00000263577.

Structurei

Secondary structure

1
1287
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Beta strandi831 – 8377
Beta strandi839 – 8413
Beta strandi843 – 8486
Beta strandi861 – 8688
Helixi874 – 8763
Beta strandi878 – 8836
Beta strandi887 – 8915
Beta strandi899 – 90810
Beta strandi919 – 9224

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
3D1MX-ray1.70C/D826-924[»]
3N1FX-ray1.60C/D826-924[»]
3N1QX-ray2.89C/D/F826-924[»]
ProteinModelPortaliQ4KMG0.
SMRiQ4KMG0. Positions 27-924.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ4KMG0.

Topological domain

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini26 – 963938ExtracellularSequence AnalysisAdd
BLAST
Topological domaini985 – 1287303CytoplasmicSequence AnalysisAdd
BLAST

Transmembrane

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei964 – 98421HelicalSequence AnalysisAdd
BLAST

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini29 – 11486Ig-like C2-type 1Add
BLAST
Domaini120 – 20485Ig-like C2-type 2Add
BLAST
Domaini225 – 30379Ig-like C2-type 3Add
BLAST
Domaini310 – 39687Ig-like C2-type 4Add
BLAST
Domaini405 – 516112Ig-like C2-type 5Add
BLAST
Domaini579 – 67799Fibronectin type-III 1PROSITE-ProRule annotationAdd
BLAST
Domaini723 – 82199Fibronectin type-III 2PROSITE-ProRule annotationAdd
BLAST
Domaini826 – 926101Fibronectin type-III 3PROSITE-ProRule annotationAdd
BLAST

Sequence similaritiesi

Contains 3 fibronectin type-III domains.PROSITE-ProRule annotation

Keywords - Domaini

Immunoglobulin domain, Repeat, Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG150729.
GeneTreeiENSGT00760000118886.
HOGENOMiHOG000060072.
HOVERGENiHBG081073.
InParanoidiQ4KMG0.
OMAiVSDTQIM.
OrthoDBiEOG7MD4PB.
PhylomeDBiQ4KMG0.
TreeFamiTF332268.

Family and domain databases

Gene3Di2.60.40.10. 8 hits.
InterProiIPR003961. Fibronectin_type3.
IPR007110. Ig-like_dom.
IPR013783. Ig-like_fold.
IPR013098. Ig_I-set.
IPR003599. Ig_sub.
IPR003598. Ig_sub2.
[Graphical view]
PfamiPF00041. fn3. 3 hits.
PF07679. I-set. 3 hits.
[Graphical view]
SMARTiSM00060. FN3. 3 hits.
SM00409. IG. 1 hit.
SM00408. IGc2. 4 hits.
[Graphical view]
SUPFAMiSSF49265. SSF49265. 2 hits.
PROSITEiPS50853. FN3. 3 hits.
PS50835. IG_LIKE. 5 hits.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative splicing. Align

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

This isoform has been chosen as the 'canonical' 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
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

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti75 – 751V → I in AAC34901. (PubMed:9214393)Curated
Sequence conflicti75 – 751V → I in AAH98583. (PubMed:15489334)Curated
Sequence conflicti265 – 2651G → E in AAH98583. (PubMed:15489334)Curated
Sequence conflicti300 – 3001K → E in AAC34901. (PubMed:9214393)Curated
Sequence conflicti669 – 6691L → I in AAC34901. (PubMed:9214393)Curated
Sequence conflicti1244 – 12441I → N in AAH98583. (PubMed:15489334)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti66 – 661K → R.
Corresponds to variant rs7122277 [ dbSNP | Ensembl ].
VAR_056038
Natural varianti162 – 1621E → K.
Corresponds to variant rs3740909 [ dbSNP | Ensembl ].
VAR_056039
Natural varianti351 – 3511P → A.
Corresponds to variant rs35665264 [ dbSNP | Ensembl ].
VAR_056040
Natural varianti684 – 6841T → S in HPE11. 1 Publication
Corresponds to variant rs145983470 [ dbSNP | Ensembl ].
VAR_066497
Natural varianti686 – 6861A → V.
Corresponds to variant rs12274923 [ dbSNP | Ensembl ].
VAR_056041
Natural varianti689 – 6891P → A in HPE11. 1 Publication
VAR_066498
Natural varianti691 – 6911V → M in HPE11. 1 Publication
VAR_066499
Natural varianti780 – 7801V → E in HPE11. 1 Publication
VAR_066500
Natural varianti790 – 7901T → A in HPE11. 1 Publication
VAR_066501
Natural varianti940 – 9401S → R in HPE11. 1 Publication
VAR_066502

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1212 – 123423Missing in isoform 2. 1 PublicationVSP_018201Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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]
UniGeneiHs.38034.

Genome annotation databases

EnsembliENST00000263577; ENSP00000263577; ENSG00000064309. [Q4KMG0-2]
ENST00000392693; ENSP00000376458; ENSG00000064309. [Q4KMG0-1]
GeneIDi50937.
KEGGihsa:50937.
UCSCiuc001qdc.4. human. [Q4KMG0-2]
uc009zbw.3. human. [Q4KMG0-1]

Polymorphism databases

DMDMi308153422.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF004841 mRNA. Translation: AAC34901.2 .
AP000821 Genomic DNA. No translation available.
AP000842 Genomic DNA. No translation available.
BC098583 mRNA. Translation: AAH98583.1 .
CCDSi CCDS58192.1. [Q4KMG0-1 ]
CCDS8468.1. [Q4KMG0-2 ]
PIRi T03097.
RefSeqi NP_001230526.1. NM_001243597.1. [Q4KMG0-1 ]
NP_058648.4. NM_016952.4. [Q4KMG0-2 ]
UniGenei Hs.38034.

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
Entry Method Resolution (Å) Chain Positions PDBsum
3D1M X-ray 1.70 C/D 826-924 [» ]
3N1F X-ray 1.60 C/D 826-924 [» ]
3N1Q X-ray 2.89 C/D/F 826-924 [» ]
ProteinModelPortali Q4KMG0.
SMRi Q4KMG0. Positions 27-924.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 119165. 5 interactions.
DIPi DIP-57226N.
IntActi Q4KMG0. 1 interaction.
MINTi MINT-2795255.
STRINGi 9606.ENSP00000263577.

PTM databases

PhosphoSitei Q4KMG0.

Polymorphism databases

DMDMi 308153422.

Proteomic databases

MaxQBi Q4KMG0.
PaxDbi Q4KMG0.
PRIDEi Q4KMG0.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000263577 ; ENSP00000263577 ; ENSG00000064309 . [Q4KMG0-2 ]
ENST00000392693 ; ENSP00000376458 ; ENSG00000064309 . [Q4KMG0-1 ]
GeneIDi 50937.
KEGGi hsa:50937.
UCSCi uc001qdc.4. human. [Q4KMG0-2 ]
uc009zbw.3. human. [Q4KMG0-1 ]

Organism-specific databases

CTDi 50937.
GeneCardsi GC11M125866.
H-InvDB HIX0035847.
HGNCi HGNC:17104. CDON.
HPAi CAB012422.
HPA017377.
MIMi 608707. gene.
614226. phenotype.
neXtProti NX_Q4KMG0.
Orphaneti 93925. Alobar holoprosencephaly.
93924. Lobar holoprosencephaly.
280200. Microform holoprosencephaly.
93926. Midline interhemispheric variant of holoprosencephaly.
220386. Semilobar holoprosencephaly.
280195. Septopreoptic holoprosencephaly.
PharmGKBi PA26328.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG150729.
GeneTreei ENSGT00760000118886.
HOGENOMi HOG000060072.
HOVERGENi HBG081073.
InParanoidi Q4KMG0.
OMAi VSDTQIM.
OrthoDBi EOG7MD4PB.
PhylomeDBi Q4KMG0.
TreeFami TF332268.

Enzyme and pathway databases

Reactomei REACT_21402. CDO in myogenesis.

Miscellaneous databases

EvolutionaryTracei Q4KMG0.
GeneWikii CDON.
GenomeRNAii 50937.
NextBioi 53379.
PROi Q4KMG0.
SOURCEi Search...

Gene expression databases

Bgeei Q4KMG0.
CleanExi HS_CDON.
ExpressionAtlasi Q4KMG0. baseline and differential.
Genevestigatori Q4KMG0.

Family and domain databases

Gene3Di 2.60.40.10. 8 hits.
InterProi IPR003961. Fibronectin_type3.
IPR007110. Ig-like_dom.
IPR013783. Ig-like_fold.
IPR013098. Ig_I-set.
IPR003599. Ig_sub.
IPR003598. Ig_sub2.
[Graphical view ]
Pfami PF00041. fn3. 3 hits.
PF07679. I-set. 3 hits.
[Graphical view ]
SMARTi SM00060. FN3. 3 hits.
SM00409. IG. 1 hit.
SM00408. IGc2. 4 hits.
[Graphical view ]
SUPFAMi SSF49265. SSF49265. 2 hits.
PROSITEi PS50853. FN3. 3 hits.
PS50835. IG_LIKE. 5 hits.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "CDO: an oncogene-, serum-, and anchorage-regulated member of the Ig/fibronectin type III repeat family."
    Kang J.-S., Gao M., Feinleib J.L., Cotter P.D., Guadagno S.N., Krauss R.S.
    J. Cell Biol. 138:203-213(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
    Tissue: Fetal brain and Fetal lung.
  2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Tissue: Placenta.
  4. "The mode of Hedgehog binding to Ihog homologues is not conserved across different phyla."
    McLellan J.S., Zheng X., Hauk G., Ghirlando R., Beachy P.A., Leahy D.J.
    Nature 455:979-983(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: X-RAY CRYSTALLOGRAPHY (1.7 ANGSTROMS) OF 826-924 IN COMPLEX WITH SHH, INTERACTION WITH SHH.
  5. "All mammalian Hedgehog proteins interact with cell adhesion molecule, down-regulated by oncogenes (CDO) and brother of CDO (BOC) in a conserved manner."
    Kavran J.M., Ward M.D., Oladosu O.O., Mulepati S., Leahy D.J.
    J. Biol. Chem. 285:24584-24590(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: X-RAY CRYSTALLOGRAPHY (1.6 ANGSTROMS) OF 826-924 IN COMPLEXES WITH IHH AND DHH, INTERACTION WITH IHH AND DHH.
  6. "Mutations in CDON, encoding a hedgehog receptor, result in holoprosencephaly and defective interactions with other hedgehog receptors."
    Bae G.U., Domene S., Roessler E., Schachter K., Kang J.S., Muenke M., Krauss R.S.
    Am. J. Hum. Genet. 89:231-240(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS HPE11 SER-684; ALA-689; MET-691; GLU-780; ALA-790 AND ARG-940.

Entry informationi

Entry nameiCDON_HUMAN
AccessioniPrimary (citable) accession number: Q4KMG0
Secondary accession number(s): O14631
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 2, 2006
Last sequence update: October 5, 2010
Last modified: October 29, 2014
This is version 93 of the entry and version 2 of the sequence. [Complete history]
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.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 11
    Human chromosome 11: 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
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3