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Protein

Craniofacial development protein 1

Gene

CFDP1

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

Functioni

May play a role during embryogenesis.By similarity

GO - Biological processi

Keywordsi

Molecular functionDevelopmental protein

Names & Taxonomyi

Protein namesi
Recommended name:
Craniofacial development protein 1
Alternative name(s):
Bucentaur
Gene namesi
Name:CFDP1
Synonyms:BCNT, CENP-29
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 16

Organism-specific databases

EuPathDBiHostDB:ENSG00000153774.8
HGNCiHGNC:1873 CFDP1
MIMi608108 gene
neXtProtiNX_Q9UEE9

Subcellular locationi

Keywords - Cellular componenti

Centromere, Chromosome, Kinetochore

Pathology & Biotechi

Organism-specific databases

DisGeNETi10428
OpenTargetsiENSG00000153774
PharmGKBiPA26422

Polymorphism and mutation databases

BioMutaiCFDP1
DMDMi74734998

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002124941 – 299Craniofacial development protein 1Add BLAST299

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei82PhosphoserineBy similarity1
Modified residuei85PhosphoserineBy similarity1
Modified residuei86PhosphoserineBy similarity1
Modified residuei116PhosphoserineCombined sources1
Cross-linki150Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei216PhosphoserineCombined sources1
Modified residuei219N6-methyllysineCombined sources1
Modified residuei250PhosphoserineCombined sources1

Post-translational modificationi

Phosphorylated by CK2 (casein kinase II) in vitro.1 Publication

Keywords - PTMi

Isopeptide bond, Methylation, Phosphoprotein, Ubl conjugation

Proteomic databases

EPDiQ9UEE9
PaxDbiQ9UEE9
PeptideAtlasiQ9UEE9
PRIDEiQ9UEE9

PTM databases

iPTMnetiQ9UEE9
PhosphoSitePlusiQ9UEE9

Expressioni

Tissue specificityi

Ubiquitous.1 Publication

Gene expression databases

BgeeiENSG00000153774
CleanExiHS_CFDP1
ExpressionAtlasiQ9UEE9 baseline and differential
GenevisibleiQ9UEE9 HS

Organism-specific databases

HPAiHPA041316
HPA048242

Interactioni

Protein-protein interaction databases

BioGridi11569711 interactors.
IntActiQ9UEE9 3 interactors.
MINTiQ9UEE9
STRINGi9606.ENSP00000283882

Structurei

3D structure databases

ProteinModelPortaliQ9UEE9
SMRiQ9UEE9
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini218 – 299BCNT-CPROSITE-ProRule annotationAdd BLAST82

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni178 – 217HydrophilicAdd BLAST40

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi2 – 161Glu-richAdd BLAST160

Phylogenomic databases

eggNOGiKOG4776 Eukaryota
ENOG4111H9K LUCA
GeneTreeiENSGT00390000018141
HOGENOMiHOG000247045
HOVERGENiHBG081120
InParanoidiQ9UEE9
OMAiRTYNFAG
OrthoDBiEOG091G0Z7H
PhylomeDBiQ9UEE9
TreeFamiTF313182

Family and domain databases

InterProiView protein in InterPro
IPR011421 BCNT-C
IPR027124 Swc5/CFDP
PANTHERiPTHR23227 PTHR23227, 1 hit
PfamiView protein in Pfam
PF07572 BCNT, 1 hit
PROSITEiView protein in PROSITE
PS51279 BCNT_C, 1 hit

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9UEE9-1) [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
MEEFDSEDFS TSEEDEDYVP SGGEYSEDDV NELVKEDEVD GEEQTQKTQG
60 70 80 90 100
KKRKAQSIPA RKRRQGGLSL EEEEEEDANS ESEGSSSEEE DDAAEQEKGI
110 120 130 140 150
GSEDARKKKE DELWASFLND VGPKSKVPPS TQVKKGEETE ETSSSKLLVK
160 170 180 190 200
AEELEKPKET EKVKITKVFD FAGEEVRVTK EVDATSKEAK SFFKQNEKEK
210 220 230 240 250
PQANVPSALP SLPAGSGLKR SSGMSSLLGK IGAKKQKMST LEKSKLDWES
260 270 280 290
FKEEEGIGEE LAIHNRGKEG YIERKAFLDR VDHRQFEIER DLRLSKMKP
Length:299
Mass (Da):33,593
Last modified:May 1, 2000 - v1
Checksum:iF4A9E928B669451A
GO
Isoform 2 (identifier: Q9UEE9-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     218-299: Missing.

Show »
Length:217
Mass (Da):24,061
Checksum:iE404BA2E35497828
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti23 – 24GE → IP in BAA20070 (PubMed:9006920).Curated2

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_04840860A → T. Corresponds to variant dbSNP:rs16963331Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_016242218 – 299Missing in isoform 2. 1 PublicationAdd BLAST82

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
D85939 mRNA Translation: BAA20069.1
D86549 mRNA Translation: BAA20070.1
AB004907 Genomic DNA Translation: BAA31860.1
AB009269 Genomic DNA Translation: BAA31864.1
AB009270 Genomic DNA Translation: BAA31865.1
AB009285 mRNA Translation: BAA31867.1
BT009819 mRNA Translation: AAP88821.1
CR542111 mRNA Translation: CAG46908.1
BC000991 mRNA Translation: AAH00991.1
CCDSiCCDS10916.1 [Q9UEE9-1]
RefSeqiNP_006315.1, NM_006324.2 [Q9UEE9-1]
UniGeneiHs.461361

Genome annotation databases

EnsembliENST00000283882; ENSP00000283882; ENSG00000153774 [Q9UEE9-1]
GeneIDi10428
KEGGihsa:10428
UCSCiuc002fdy.4 human [Q9UEE9-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiCFDP1_HUMAN
AccessioniPrimary (citable) accession number: Q9UEE9
Secondary accession number(s): O00393
, O00404, Q9UEF0, Q9UEF1, Q9UEF8
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 22, 2005
Last sequence update: May 1, 2000
Last modified: February 28, 2018
This is version 117 of the entry and version 1 of the sequence. See 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

Complete proteome, Reference proteome