Q4KMG0 (CDON_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Cell adhesion molecule-related/down-regulated by oncogenes

Gene names

Name:	CDON
Synonyms:	CDO

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	1287 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Component of a cell-surface receptor complex that mediates cell-cell interactions between muscle precursor cells. Promotes differentiation of myogenic cells By similarity.
Subunit structure	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.
Subcellular location	Membrane; Single-pass membrane protein Potential.
Post-translational modification	N-glycosylated By similarity.
Involvement in disease	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. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.4
Sequence similarities	Contains 3 fibronectin type-III domains. Contains 5 Ig-like C2-type (immunoglobulin-like) domains.

Ontologies

Keywords
Cellular component	Membrane
Coding sequence diversity	Alternative splicing Polymorphism
Disease	Disease mutation Holoprosencephaly
Domain	Immunoglobulin domain Repeat Signal Transmembrane Transmembrane helix
PTM	Disulfide bond Glycoprotein
Technical term	3D-structure Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	anterior/posterior pattern specification Inferred from electronic annotation. Source: Compara cell adhesion Traceable author statement Ref.1. Source: UniProtKB cell fate specification Inferred from electronic annotation. Source: Compara cerebral cortex development Inferred from electronic annotation. Source: Compara embryonic body morphogenesis Inferred from electronic annotation. Source: Compara embryonic retina morphogenesis in camera-type eye Inferred from electronic annotation. Source: Compara lens development in camera-type eye Inferred from electronic annotation. Source: Compara muscle cell differentiation Traceable author statement. Source: Reactome myoblast fusion Inferred from electronic annotation. Source: Compara positive regulation of MAPK cascade Inferred from electronic annotation. Source: Compara positive regulation of muscle cell differentiation Traceable author statement. Source: Reactome positive regulation of neural precursor cell proliferation Inferred from electronic annotation. Source: Compara positive regulation of neuron differentiation Inferred from electronic annotation. Source: Compara positive regulation of protein phosphorylation Inferred from electronic annotation. Source: Compara positive regulation of skeletal muscle tissue development Inferred from electronic annotation. Source: Compara positive regulation of small GTPase mediated signal transduction Inferred from electronic annotation. Source: Compara positive regulation of transcription from RNA polymerase II promoter Inferred from electronic annotation. Source: Compara regulation of protein heterodimerization activity Inferred from electronic annotation. Source: Compara satellite cell differentiation Inferred from electronic annotation. Source: Compara smoothened signaling pathway Inferred from electronic annotation. Source: Compara
Cellular_component	integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW plasma membrane Traceable author statement. Source: Reactome
Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q4KMG0-1)

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.

Isoform 2 (identifier: Q4KMG0-2)

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

Sequence annotation (Features)

Feature key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Signal peptide

1 – 25

25

Potential

Chain

26 – 1287

1262

Cell adhesion molecule-related/down-regulated by oncogenes

PRO_0000234054

Regions

Topological domain

26 – 963

938

Extracellular Potential

Transmembrane

964 – 984

21

Helical; Potential

Topological domain

985 – 1287

303

Cytoplasmic Potential

Domain

29 – 114

86

Ig-like C2-type 1

Domain

120 – 204

85

Ig-like C2-type 2

Domain

225 – 303

79

Ig-like C2-type 3

Domain

310 – 396

87

Ig-like C2-type 4

Domain

405 – 516

112

Ig-like C2-type 5

Domain

577 – 673

97

Fibronectin type-III 1

Domain

721 – 813

93

Fibronectin type-III 2

Domain

826 – 923

98

Fibronectin type-III 3

Amino acid modifications

Glycosylation

88

1

N-linked (GlcNAc...) Potential

Glycosylation

100

1

N-linked (GlcNAc...) Potential

Glycosylation

180

1

N-linked (GlcNAc...) Potential

Glycosylation

287

1

N-linked (GlcNAc...) Potential

Glycosylation

294

1

N-linked (GlcNAc...) Potential

Glycosylation

342

1

N-linked (GlcNAc...) Potential

Glycosylation

427

1

N-linked (GlcNAc...) Potential

Glycosylation

570

1

N-linked (GlcNAc...) Potential

Glycosylation

873

1

N-linked (GlcNAc...) Potential

Disulfide bond

50 ↔ 97

By similarity

Disulfide bond

141 ↔ 191

By similarity

Disulfide bond

243 ↔ 290

By similarity

Disulfide bond

333 ↔ 380

By similarity

Disulfide bond

426 ↔ 500

By similarity

Natural variations

Alternative sequence

1212 – 1234

23

Missing in isoform 2.

VSP_018201

Natural variant

66

1

K → R.
Corresponds to variant rs7122277 [ dbSNP | Ensembl ].

VAR_056038

Natural variant

162

1

E → K.
Corresponds to variant rs3740909 [ dbSNP | Ensembl ].

VAR_056039

Natural variant

351

1

P → A.
Corresponds to variant rs35665264 [ dbSNP | Ensembl ].

VAR_056040

Natural variant

684

1

T → S in HPE11. Ref.4

VAR_066497

Natural variant

686

1

A → V.
Corresponds to variant rs12274923 [ dbSNP | Ensembl ].

VAR_056041

Natural variant

689

1

P → A in HPE11. Ref.4

VAR_066498

Natural variant

691

1

V → M in HPE11. Ref.4

VAR_066499

Natural variant

780

1

V → E in HPE11. Ref.4

VAR_066500

Natural variant

790

1

T → A in HPE11. Ref.4

VAR_066501

Natural variant

940

1

S → R in HPE11. Ref.4

VAR_066502

Experimental info

Sequence conflict

75

1

V → I in AAC34901. Ref.1

Sequence conflict

75

1

V → I in AAH98583. Ref.3

Sequence conflict

265

1

G → E in AAH98583. Ref.3

Sequence conflict

300

1

K → E in AAC34901. Ref.1

Sequence conflict

669

1

L → I in AAC34901. Ref.1

Sequence conflict

1244

1

I → N in AAH98583. Ref.3

Secondary structure

1

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

1287

Helix Strand Turn

Details...

Beta strand

831 – 837

7

Beta strand

839 – 841

3

Beta strand

843 – 848

6

Beta strand

861 – 868

8

Helix

874 – 876

3

Beta strand

878 – 883

6

Beta strand

887 – 891

5

Beta strand

899 – 908

10

Beta strand

919 – 922

4

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified October 5, 2010. Version 2. Checksum: B7870C66F5224BBE	FASTA	1,287	139,147
	10 20 30 40 50 60 MHPDLGPLCT LLYVTLTILC SSVSSDLAPY FTSEPLSAVQ KLGGPVVLHC SAQPVTTRIS 70 80 90 100 110 120 WLHNGKTLDG NLEHVKIHQG TLTILSLNSS LLGYYQCLAN NSIGAIVSGP ATVSVAVLGD 130 140 150 160 170 180 FGSSTKHVIT AEEKSAGFIG CRVPESNPKA EVRYKIRGKW LEHSTENYLI LPSGNLQILN 190 200 210 220 230 240 VSLEDKGSYK CAAYNPVTHQ LKVEPIGRKL LVSRPSSDDV HILHPTHSQA LAVLSRSPVT 250 260 270 280 290 300 LECVVSGVPA PQVYWLKDGQ DIAPGSNWRR LYSHLATDSV DPADSGNYSC MAGNKSGDVK 310 320 330 340 350 360 YVTYMVNVLE HASISKGLQD QIVSLGATVH FTCDVHGNPA PNCTWFHNAQ PIHPSARHLT 370 380 390 400 410 420 AGNGLKISGV TVEDVGMYQC VADNGIGFMH STGRLEIEND GGFKPVIITA PVSAKVADGD 430 440 450 460 470 480 FVTLSCNASG LPVPVIRWYD SHGLITSHPS QVLRSKSRKS QLSRPEGLNL EPVYFVLSQA 490 500 510 520 530 540 GASSLHIQAV TQEHAGKYIC EAANEHGTTQ AEASLMVVPF ETNTKAETVT LPDAAQNDDR 550 560 570 580 590 600 SKRDGSETGL LSSFPVKVHP SAVESAPEKN ASGISVPDAP IILSPPQTHT PDTYNLVWRA 610 620 630 640 650 660 GKDGGLPINA YFVKYRKLDD GVGMLGSWHT VRVPGSENEL HLAELEPSSL YEVLMVARSA 670 680 690 700 710 720 AGEGQPAMLT FRTSKEKTAS SKNTQASSPP VGIPKYPVVS EAANNNFGVV LTDSSRHSGV 730 740 750 760 770 780 PEAPDRPTIS TASETSVYVT WIPRANGGSP ITAFKVEYKR MRTSNWLVAA EDIPPSKLSV 790 800 810 820 830 840 EVRSLEPGST YKFRVIAINH YGESFRSSAS RPYQVVGFPN RFSSRPITGP HIAYTEAVSD 850 860 870 880 890 900 TQIMLKWTYI PSSNNNTPIQ GFYIYYRPTD SDNDSDYKRD VVEGSKQWHM IGHLQPETSY 910 920 930 940 950 960 DIKMQCFNEG GESEFSNVMI CETKVKRVPG ASEYPVKDLS TPPNSLGSGG NVGPATSPAR 970 980 990 1000 1010 1020 SSDMLYLIVG CVLGVMVLIL MVFIAMCLWK NRQQNTIQKY DPPGYLYQGS DMNGQMVDYT 1030 1040 1050 1060 1070 1080 TLSGASQING NVHGGFLTNG GLSSGYSHLH HKVPNAVNGI VNGSLNGGLY SGHSNSLTRT 1090 1100 1110 1120 1130 1140 HVDFEHPHHL VNGGGMYTAV PQIDPLECVN CRNCRNNNRC FTKTNSTFSS SPPPVVPVVA 1150 1160 1170 1180 1190 1200 PYPQDGLEMK PLSHVKVPVC LTSAVPDCGQ LPEESVKDNV EPVPTQRTCC QDIVNDVSSD 1210 1220 1230 1240 1250 1260 GSEDPAEFSR GQEGMINLRI PDHLQLAKSC VWEGDSCAHS ETEINIVSWN ALILPPVPEG 1270 1280 CAEKTMWSPP GIPLDSPTEV LQQPRET
	Isoform 2 [UniParc]. Checksum: 79AB36E0B52C61D7	FASTA	1,264	136,527
	10 20 30 40 50 60 MHPDLGPLCT LLYVTLTILC SSVSSDLAPY FTSEPLSAVQ KLGGPVVLHC SAQPVTTRIS 70 80 90 100 110 120 WLHNGKTLDG NLEHVKIHQG TLTILSLNSS LLGYYQCLAN NSIGAIVSGP ATVSVAVLGD 130 140 150 160 170 180 FGSSTKHVIT AEEKSAGFIG CRVPESNPKA EVRYKIRGKW LEHSTENYLI LPSGNLQILN 190 200 210 220 230 240 VSLEDKGSYK CAAYNPVTHQ LKVEPIGRKL LVSRPSSDDV HILHPTHSQA LAVLSRSPVT 250 260 270 280 290 300 LECVVSGVPA PQVYWLKDGQ DIAPGSNWRR LYSHLATDSV DPADSGNYSC MAGNKSGDVK 310 320 330 340 350 360 YVTYMVNVLE HASISKGLQD QIVSLGATVH FTCDVHGNPA PNCTWFHNAQ PIHPSARHLT 370 380 390 400 410 420 AGNGLKISGV TVEDVGMYQC VADNGIGFMH STGRLEIEND GGFKPVIITA PVSAKVADGD 430 440 450 460 470 480 FVTLSCNASG LPVPVIRWYD SHGLITSHPS QVLRSKSRKS QLSRPEGLNL EPVYFVLSQA 490 500 510 520 530 540 GASSLHIQAV TQEHAGKYIC EAANEHGTTQ AEASLMVVPF ETNTKAETVT LPDAAQNDDR 550 560 570 580 590 600 SKRDGSETGL LSSFPVKVHP SAVESAPEKN ASGISVPDAP IILSPPQTHT PDTYNLVWRA 610 620 630 640 650 660 GKDGGLPINA YFVKYRKLDD GVGMLGSWHT VRVPGSENEL HLAELEPSSL YEVLMVARSA 670 680 690 700 710 720 AGEGQPAMLT FRTSKEKTAS SKNTQASSPP VGIPKYPVVS EAANNNFGVV LTDSSRHSGV 730 740 750 760 770 780 PEAPDRPTIS TASETSVYVT WIPRANGGSP ITAFKVEYKR MRTSNWLVAA EDIPPSKLSV 790 800 810 820 830 840 EVRSLEPGST YKFRVIAINH YGESFRSSAS RPYQVVGFPN RFSSRPITGP HIAYTEAVSD 850 860 870 880 890 900 TQIMLKWTYI PSSNNNTPIQ GFYIYYRPTD SDNDSDYKRD VVEGSKQWHM IGHLQPETSY 910 920 930 940 950 960 DIKMQCFNEG GESEFSNVMI CETKVKRVPG ASEYPVKDLS TPPNSLGSGG NVGPATSPAR 970 980 990 1000 1010 1020 SSDMLYLIVG CVLGVMVLIL MVFIAMCLWK NRQQNTIQKY DPPGYLYQGS DMNGQMVDYT 1030 1040 1050 1060 1070 1080 TLSGASQING NVHGGFLTNG GLSSGYSHLH HKVPNAVNGI VNGSLNGGLY SGHSNSLTRT 1090 1100 1110 1120 1130 1140 HVDFEHPHHL VNGGGMYTAV PQIDPLECVN CRNCRNNNRC FTKTNSTFSS SPPPVVPVVA 1150 1160 1170 1180 1190 1200 PYPQDGLEMK PLSHVKVPVC LTSAVPDCGQ LPEESVKDNV EPVPTQRTCC QDIVNDVSSD 1210 1220 1230 1240 1250 1260 GSEDPAEFSR GDSCAHSETE INIVSWNALI LPPVPEGCAE KTMWSPPGIP LDSPTEVLQQ PRET

References

	« Hide 'large scale' referencesShow 'large scale' references »
[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]	"Human chromosome 11 DNA sequence and analysis including novel gene identification." Taylor T.D., Noguchi H., Totoki Y., Toyoda A., Kuroki Y., Dewar K., Lloyd C., Itoh T., Takeda T., Kim D.-W., She X., Barlow K.F., Bloom T., Bruford E., Chang J.L., Cuomo C.A., Eichler E., FitzGerald M.G. , Jaffe D.B., LaButti K., Nicol R., Park H.-S., Seaman C., Sougnez C., Yang X., Zimmer A.R., Zody M.C., Birren B.W., Nusbaum C., Fujiyama A., Hattori M., Rogers J., Lander E.S., Sakaki Y. Nature 440:497-500(2006) [PubMed] [Europe PMC] [Abstract] 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]	"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.
+	Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ

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

IPI

IPI00027220.
IPI00743564.

PIR

T03097.

RefSeq

NP_001230526.1. NM_001243597.1.
NP_058648.4. NM_016952.4.

UniGene

Hs.38034.

3D structure databases

PDBe
RCSB PDB
PDBj

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	[»]

ProteinModelPortal

Q4KMG0.

SMR

Q4KMG0. Positions 27-924.

ModBase

Search...

Protein-protein interaction databases

DIP

DIP-57226N.

MINT

MINT-2795255.

STRING

9606.ENSP00000263577.

PTM databases

PhosphoSite

Q4KMG0.

Polymorphism databases

DMDM

308153422.

Proteomic databases

PaxDb

Q4KMG0.

PRIDE

Q4KMG0.

Protocols and materials databases

StructuralBiologyKnowledgebase

Search...

Genome annotation databases

Ensembl

ENST00000263577; ENSP00000263577; ENSG00000064309.
ENST00000392693; ENSP00000376458; ENSG00000064309.

GeneID

50937.

KEGG

hsa:50937.

UCSC

uc001qdc.4. human.
uc009zbw.3. human.

Organism-specific databases

CTD

50937.

GeneCards

GC11M125866.

H-InvDB

HIX0035847.

HGNC

HGNC:17104. CDON.

HPA

CAB012422.
HPA017377.

MIM

608707. gene.
614226. phenotype.

neXtProt

NX_Q4KMG0.

Orphanet

93925. Alobar holoprosencephaly.
93924. Lobar holoprosencephaly.
280200. Microform holoprosencephaly.
93926. Midline interhemispheric variant of holoprosencephaly.
220386. Semilobar holoprosencephaly.
280195. Septopreoptic holoprosencephaly.

PharmGKB

PA26328.

GenAtlas

Search...

Phylogenomic databases

eggNOG

NOG150729.

HOGENOM

HOG000060072.

HOVERGEN

HBG081073.

InParanoid

Q4KMG0.

OMA

EGSKQWH.

OrthoDB

EOG4GTKC2.

Enzyme and pathway databases

Pathway_Interaction_DB

hedgehog_2pathway. Signaling events mediated by the Hedgehog family.

Reactome

REACT_111045. Developmental Biology.

Gene expression databases

ArrayExpress

Q4KMG0.

Bgee

Q4KMG0.

CleanEx

HS_CDON.

Genevestigator

Q4KMG0.

GermOnline

ENSG00000064309. Homo sapiens.

Family and domain databases

Gene3D

2.60.40.10. 8 hits.

InterPro

IPR003961. Fibronectin_type3.
IPR007110. Ig-like_dom.
IPR013783. Ig-like_fold.
IPR013098. Ig_I-set.
IPR003599. Ig_sub.
IPR003598. Ig_sub2.
[Graphical view]

Pfam

PF00041. fn3. 3 hits.
PF07679. I-set. 3 hits.
[Graphical view]

SMART

SM00060. FN3. 3 hits.
SM00409. IG. 1 hit.
SM00408. IGc2. 4 hits.
[Graphical view]

SUPFAM

SSF49265. FN_III-like. 3 hits.

PROSITE

PS50853. FN3. 3 hits.
PS50835. IG_LIKE. 5 hits.
[Graphical view]

ProtoNet

Search...

Other

EvolutionaryTrace

Q4KMG0.

GenomeRNAi

50937.

NextBio

53379.

SOURCE

Search...

Entry information

Entry name

CDON_HUMAN

Accession

Primary (citable) accession number: Q4KMG0
Secondary accession number(s): O14631

Entry history

Integrated into UniProtKB/Swiss-Prot:	May 2, 2006
Last sequence update:	October 5, 2010
Last modified:	May 1, 2013
This is version 77 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.