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Protein

Craniofacial development protein 1

Gene

CFDP1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-Experimental evidence at protein leveli

Functioni

May play a role during embryogenesis.By similarity

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Developmental 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

HGNCiHGNC:1873. CFDP1.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Centromere, Chromosome, Kinetochore

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA26422.

Polymorphism and mutation databases

BioMutaiCFDP1.
DMDMi74734998.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 299299Craniofacial development protein 1PRO_0000212494Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei82 – 821PhosphoserineBy similarity
Modified residuei85 – 851PhosphoserineBy similarity
Modified residuei86 – 861PhosphoserineBy similarity
Modified residuei116 – 1161PhosphoserineCombined sources
Modified residuei216 – 2161PhosphoserineCombined sources
Modified residuei250 – 2501PhosphoserineCombined sources

Post-translational modificationi

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

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ9UEE9.
MaxQBiQ9UEE9.
PaxDbiQ9UEE9.
PeptideAtlasiQ9UEE9.
PRIDEiQ9UEE9.

PTM databases

iPTMnetiQ9UEE9.
PhosphoSiteiQ9UEE9.

Expressioni

Tissue specificityi

Ubiquitous.1 Publication

Gene expression databases

BgeeiENSG00000153774.
CleanExiHS_CFDP1.
ExpressionAtlasiQ9UEE9. baseline and differential.
GenevisibleiQ9UEE9. HS.

Organism-specific databases

HPAiHPA041316.

Interactioni

Protein-protein interaction databases

BioGridi115697. 11 interactions.
IntActiQ9UEE9. 3 interactions.
MINTiMINT-1185694.
STRINGi9606.ENSP00000283882.

Structurei

3D structure databases

ProteinModelPortaliQ9UEE9.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini218 – 29982BCNT-CPROSITE-ProRule annotationAdd
BLAST

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni178 – 21740HydrophilicAdd
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi2 – 161160Glu-richAdd
BLAST

Sequence similaritiesi

Contains 1 BCNT-C domain.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiKOG4776. Eukaryota.
ENOG4111H9K. LUCA.
GeneTreeiENSGT00390000018141.
HOGENOMiHOG000247045.
HOVERGENiHBG081120.
InParanoidiQ9UEE9.
OMAiMDWAGFV.
OrthoDBiEOG091G0Z7H.
PhylomeDBiQ9UEE9.
TreeFamiTF313182.

Family and domain databases

InterProiIPR011421. BCNT-C.
IPR027124. Swc5/CFDP.
[Graphical view]
PANTHERiPTHR23227. PTHR23227. 1 hit.
PfamiPF07572. BCNT. 1 hit.
[Graphical view]
PROSITEiPS51279. BCNT_C. 1 hit.
[Graphical view]

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)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti23 – 242GE → IP in BAA20070 (PubMed:9006920).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti60 – 601A → T.
Corresponds to variant rs16963331 [ dbSNP | Ensembl ].
VAR_048408

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei218 – 29982Missing in isoform 2. 1 PublicationVSP_016242Add
BLAST

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

Cross-referencesi

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.

3D structure databases

ProteinModelPortaliQ9UEE9.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi115697. 11 interactions.
IntActiQ9UEE9. 3 interactions.
MINTiMINT-1185694.
STRINGi9606.ENSP00000283882.

PTM databases

iPTMnetiQ9UEE9.
PhosphoSiteiQ9UEE9.

Polymorphism and mutation databases

BioMutaiCFDP1.
DMDMi74734998.

Proteomic databases

EPDiQ9UEE9.
MaxQBiQ9UEE9.
PaxDbiQ9UEE9.
PeptideAtlasiQ9UEE9.
PRIDEiQ9UEE9.

Protocols and materials databases

DNASUi10428.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi10428.
GeneCardsiCFDP1.
HGNCiHGNC:1873. CFDP1.
HPAiHPA041316.
MIMi608108. gene.
neXtProtiNX_Q9UEE9.
PharmGKBiPA26422.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4776. Eukaryota.
ENOG4111H9K. LUCA.
GeneTreeiENSGT00390000018141.
HOGENOMiHOG000247045.
HOVERGENiHBG081120.
InParanoidiQ9UEE9.
OMAiMDWAGFV.
OrthoDBiEOG091G0Z7H.
PhylomeDBiQ9UEE9.
TreeFamiTF313182.

Miscellaneous databases

ChiTaRSiCFDP1. human.
GeneWikiiCFDP1.
GenomeRNAii10428.
PROiQ9UEE9.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000153774.
CleanExiHS_CFDP1.
ExpressionAtlasiQ9UEE9. baseline and differential.
GenevisibleiQ9UEE9. HS.

Family and domain databases

InterProiIPR011421. BCNT-C.
IPR027124. Swc5/CFDP.
[Graphical view]
PANTHERiPTHR23227. PTHR23227. 1 hit.
PfamiPF07572. BCNT. 1 hit.
[Graphical view]
PROSITEiPS51279. BCNT_C. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiCFDP1_HUMAN
AccessioniPrimary (citable) accession number: Q9UEE9
Secondary accession number(s): O00393
, O00404, Q9UEF0, Q9UEF1, Q9UEF8
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 22, 2005
Last sequence update: May 1, 2000
Last modified: September 7, 2016
This is version 109 of the entry and version 1 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

Complete proteome, Reference proteome

Documents

  1. Human chromosome 16
    Human chromosome 16: 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. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.