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Q6UXH8

- CCBE1_HUMAN

UniProt

Q6UXH8 - CCBE1_HUMAN

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Protein
Collagen and calcium-binding EGF domain-containing protein 1
Gene
CCBE1, KIAA1983, UNQ1921/PRO4395
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

Required for lymphangioblast budding and angiogenic sprouting from venous endothelium during embryogenesis.1 Publication

GO - Molecular functioni

  1. calcium ion binding Source: InterPro
  2. collagen binding Source: MGI
  3. protease binding Source: BHF-UCL
Complete GO annotation...

GO - Biological processi

  1. lymphangiogenesis Source: UniProtKB
  2. positive regulation of endothelial cell migration Source: Ensembl
  3. positive regulation of protein processing Source: BHF-UCL
  4. positive regulation of vascular endothelial growth factor signaling pathway Source: BHF-UCL
  5. positive regulation vascular endothelial growth factor production Source: BHF-UCL
  6. sprouting angiogenesis Source: UniProtKB
  7. venous blood vessel morphogenesis Source: UniProtKB
Complete GO annotation...

Keywords - Molecular functioni

Developmental protein

Keywords - Biological processi

Angiogenesis

Keywords - Ligandi

Calcium

Names & Taxonomyi

Protein namesi
Recommended name:
Collagen and calcium-binding EGF domain-containing protein 1
Alternative name(s):
Full of fluid protein homolog
Gene namesi
Name:CCBE1
Synonyms:KIAA1983
ORF Names:UNQ1921/PRO4395
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 18

Organism-specific databases

HGNCiHGNC:29426. CCBE1.

Subcellular locationi

Secreted Reviewed prediction

GO - Cellular componenti

  1. collagen trimer Source: UniProtKB-KW
  2. extracellular matrix Source: MGI
  3. extracellular space Source: BHF-UCL
Complete GO annotation...

Keywords - Cellular componenti

Secreted

Pathology & Biotechi

Involvement in diseasei

Hennekam lymphangiectasia-lymphedema syndrome (HLLS) [MIM:235510]: A generalized lymph-vessels dysplasia characterized by intestinal lymphangiectasia with severe lymphedema of the limbs, genitalia and face. In addition, affected individuals have unusual facies and severe mental retardation.
Note: The disease is caused by mutations affecting the gene represented in this entry.2 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti75 – 751C → S in HLLS. 2 Publications
Corresponds to variant rs121908250 [ dbSNP | Ensembl ].
VAR_063746
Natural varianti102 – 1021C → S in HLLS. 1 Publication
Corresponds to variant rs121908251 [ dbSNP | Ensembl ].
VAR_063747
Natural varianti158 – 1581R → C in HLLS. 1 Publication
Corresponds to variant rs121908253 [ dbSNP | Ensembl ].
VAR_063748
Natural varianti174 – 1741C → R in HLLS. 1 Publication
Corresponds to variant rs121908254 [ dbSNP | Ensembl ].
VAR_063749
Natural varianti327 – 3271G → R in HLLS. 1 Publication
Corresponds to variant rs121908252 [ dbSNP | Ensembl ].
VAR_063750

Keywords - Diseasei

Disease mutation, Mental retardation

Organism-specific databases

MIMi235510. phenotype.
Orphaneti2136. Hennekam syndrome.
PharmGKBiPA134880094.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 3434 Reviewed prediction
Add
BLAST
Chaini35 – 406372Collagen and calcium-binding EGF domain-containing protein 1
PRO_0000279516Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Disulfide bondi138 ↔ 150 By similarity
Glycosylationi142 – 1421N-linked (GlcNAc...) Reviewed prediction
Disulfide bondi146 ↔ 159 By similarity
Disulfide bondi161 ↔ 174 By similarity
Glycosylationi182 – 1821N-linked (GlcNAc...) Reviewed prediction

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

PaxDbiQ6UXH8.
PRIDEiQ6UXH8.

PTM databases

PhosphoSiteiQ6UXH8.

Expressioni

Tissue specificityi

Not expressed in blood or lymphatic endothelial cells.1 Publication

Gene expression databases

ArrayExpressiQ6UXH8.
BgeeiQ6UXH8.
CleanExiHS_CCBE1.
GenevestigatoriQ6UXH8.

Organism-specific databases

HPAiHPA041361.
HPA041374.

Interactioni

Protein-protein interaction databases

BioGridi127056. 2 interactions.
IntActiQ6UXH8. 2 interactions.
STRINGi9606.ENSP00000404464.

Structurei

3D structure databases

ProteinModelPortaliQ6UXH8.
SMRiQ6UXH8. Positions 98-207.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini134 – 17542EGF-like; calcium-binding Reviewed prediction
Add
BLAST
Domaini245 – 29046Collagen-like 1
Add
BLAST
Domaini300 – 33334Collagen-like 2
Add
BLAST

Sequence similaritiesi

Belongs to the CCBE1 family.
Contains 1 EGF-like domain.

Keywords - Domaini

Collagen, EGF-like domain, Repeat, Signal

Phylogenomic databases

eggNOGiNOG291472.
HOGENOMiHOG000111400.
HOVERGENiHBG081035.
InParanoidiQ6UXH8.
OMAiGRTCTKG.
OrthoDBiEOG73BVDG.
PhylomeDBiQ6UXH8.
TreeFamiTF333138.

Family and domain databases

InterProiIPR008160. Collagen.
IPR000742. EG-like_dom.
IPR001881. EGF-like_Ca-bd_dom.
IPR013032. EGF-like_CS.
IPR000152. EGF-type_Asp/Asn_hydroxyl_site.
IPR018097. EGF_Ca-bd_CS.
[Graphical view]
PfamiPF01391. Collagen. 2 hits.
PF07645. EGF_CA. 1 hit.
[Graphical view]
SMARTiSM00181. EGF. 1 hit.
SM00179. EGF_CA. 1 hit.
[Graphical view]
PROSITEiPS00010. ASX_HYDROXYL. 1 hit.
PS01186. EGF_2. 1 hit.
PS50026. EGF_3. 1 hit.
PS01187. EGF_CA. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

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

This entry describes 3 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q6UXH8-1) [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

MVPPPPSRGG AARGQLGRSL GPLLLLLALG HTWTYREEPE DGDREICSES    50
KIATTKYPCL KSSGELTTCY RKKCCKGYKF VLGQCIPEDY DVCAEAPCEQ 100
QCTDNFGRVL CTCYPGYRYD RERHRKREKP YCLDIDECAS SNGTLCAHIC 150
INTLGSYRCE CREGYIREDD GKTCTRGDKY PNDTGHEKSE NMVKAGTCCA 200
TCKEFYQMKQ TVLQLKQKIA LLPNNAADLG KYITGDKVLA SNTYLPGPPG 250
LPGGQGPPGS PGPKGSPGFP GMPGPPGQPG PRGSMGPMGP SPDLSHIKQG 300
RRGPVGPPGA PGRDGSKGER GAPGPRGSPG PPGSFDFLLL MLADIRNDIT 350
ELQEKVFGHR THSSAEEFPL PQEFPSYPEA MDLGSGDDHP RRTETRDLRA 400
PRDFYP 406
Length:406
Mass (Da):44,103
Last modified:July 5, 2004 - v1
Checksum:i86BCB49EF2D801F9
GO
Isoform 2 (identifier: Q6UXH8-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-271: Missing.
     272-305: MPGPPGQPGPRGSMGPMGPSPDLSHIKQGRRGPV → MQLTWASISLVTRCWPQTPTFQDLLACLGARALP

Note: No experimental confirmation available.

Show »
Length:135
Mass (Da):14,800
Checksum:i3E73036EA15B76AD
GO
Isoform 3 (identifier: Q6UXH8-3) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-191: Missing.

Note: No experimental confirmation available.

Show »
Length:215
Mass (Da):22,600
Checksum:iA6648F6EE5BFCF05
GO

Sequence cautioni

The sequence BAB85569.1 differs from that shown. Reason: Erroneous initiation.

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti75 – 751C → S in HLLS. 2 Publications
Corresponds to variant rs121908250 [ dbSNP | Ensembl ].
VAR_063746
Natural varianti102 – 1021C → S in HLLS. 1 Publication
Corresponds to variant rs121908251 [ dbSNP | Ensembl ].
VAR_063747
Natural varianti158 – 1581R → C in HLLS. 1 Publication
Corresponds to variant rs121908253 [ dbSNP | Ensembl ].
VAR_063748
Natural varianti174 – 1741C → R in HLLS. 1 Publication
Corresponds to variant rs121908254 [ dbSNP | Ensembl ].
VAR_063749
Natural varianti193 – 1931V → G.
Corresponds to variant rs11659589 [ dbSNP | Ensembl ].
VAR_048971
Natural varianti327 – 3271G → R in HLLS. 1 Publication
Corresponds to variant rs121908252 [ dbSNP | Ensembl ].
VAR_063750

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 271271Missing in isoform 2.
VSP_023470Add
BLAST
Alternative sequencei1 – 191191Missing in isoform 3.
VSP_023469Add
BLAST
Alternative sequencei272 – 30534MPGPP…RRGPV → MQLTWASISLVTRCWPQTPT FQDLLACLGARALP in isoform 2.
VSP_023471Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AB075863 mRNA. Translation: BAB85569.1. Different initiation.
AY358347 mRNA. Translation: AAQ88713.1.
BX640826 mRNA. Translation: CAE45902.1.
BC046645 mRNA. Translation: AAH46645.1.
CCDSiCCDS32838.1. [Q6UXH8-1]
RefSeqiNP_597716.1. NM_133459.3. [Q6UXH8-1]
XP_005266705.1. XM_005266648.1. [Q6UXH8-1]
XP_005266706.1. XM_005266649.2. [Q6UXH8-3]
XP_006722456.1. XM_006722393.1. [Q6UXH8-1]
UniGeneiHs.34333.

Genome annotation databases

EnsembliENST00000398179; ENSP00000381241; ENSG00000183287. [Q6UXH8-2]
ENST00000439986; ENSP00000404464; ENSG00000183287. [Q6UXH8-1]
GeneIDi147372.
KEGGihsa:147372.
UCSCiuc002lia.3. human. [Q6UXH8-1]
uc010dpq.3. human. [Q6UXH8-2]

Polymorphism databases

DMDMi74738220.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AB075863 mRNA. Translation: BAB85569.1 . Different initiation.
AY358347 mRNA. Translation: AAQ88713.1 .
BX640826 mRNA. Translation: CAE45902.1 .
BC046645 mRNA. Translation: AAH46645.1 .
CCDSi CCDS32838.1. [Q6UXH8-1 ]
RefSeqi NP_597716.1. NM_133459.3. [Q6UXH8-1 ]
XP_005266705.1. XM_005266648.1. [Q6UXH8-1 ]
XP_005266706.1. XM_005266649.2. [Q6UXH8-3 ]
XP_006722456.1. XM_006722393.1. [Q6UXH8-1 ]
UniGenei Hs.34333.

3D structure databases

ProteinModelPortali Q6UXH8.
SMRi Q6UXH8. Positions 98-207.
ModBasei Search...

Protein-protein interaction databases

BioGridi 127056. 2 interactions.
IntActi Q6UXH8. 2 interactions.
STRINGi 9606.ENSP00000404464.

PTM databases

PhosphoSitei Q6UXH8.

Polymorphism databases

DMDMi 74738220.

Proteomic databases

PaxDbi Q6UXH8.
PRIDEi Q6UXH8.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000398179 ; ENSP00000381241 ; ENSG00000183287 . [Q6UXH8-2 ]
ENST00000439986 ; ENSP00000404464 ; ENSG00000183287 . [Q6UXH8-1 ]
GeneIDi 147372.
KEGGi hsa:147372.
UCSCi uc002lia.3. human. [Q6UXH8-1 ]
uc010dpq.3. human. [Q6UXH8-2 ]

Organism-specific databases

CTDi 147372.
GeneCardsi GC18M057101.
HGNCi HGNC:29426. CCBE1.
HPAi HPA041361.
HPA041374.
MIMi 235510. phenotype.
612753. gene.
neXtProti NX_Q6UXH8.
Orphaneti 2136. Hennekam syndrome.
PharmGKBi PA134880094.
HUGEi Search...
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG291472.
HOGENOMi HOG000111400.
HOVERGENi HBG081035.
InParanoidi Q6UXH8.
OMAi GRTCTKG.
OrthoDBi EOG73BVDG.
PhylomeDBi Q6UXH8.
TreeFami TF333138.

Miscellaneous databases

ChiTaRSi CCBE1. human.
GeneWikii CCBE1.
GenomeRNAii 147372.
NextBioi 85596.
PROi Q6UXH8.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q6UXH8.
Bgeei Q6UXH8.
CleanExi HS_CCBE1.
Genevestigatori Q6UXH8.

Family and domain databases

InterProi IPR008160. Collagen.
IPR000742. EG-like_dom.
IPR001881. EGF-like_Ca-bd_dom.
IPR013032. EGF-like_CS.
IPR000152. EGF-type_Asp/Asn_hydroxyl_site.
IPR018097. EGF_Ca-bd_CS.
[Graphical view ]
Pfami PF01391. Collagen. 2 hits.
PF07645. EGF_CA. 1 hit.
[Graphical view ]
SMARTi SM00181. EGF. 1 hit.
SM00179. EGF_CA. 1 hit.
[Graphical view ]
PROSITEi PS00010. ASX_HYDROXYL. 1 hit.
PS01186. EGF_2. 1 hit.
PS50026. EGF_3. 1 hit.
PS01187. EGF_CA. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Prediction of the coding sequences of unidentified human genes. XXII. The complete sequences of 50 new cDNA clones which code for large proteins."
    Nagase T., Kikuno R., Ohara O.
    DNA Res. 8:319-327(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Tissue: Brain.
  2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
  3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
    Tissue: Fetal brain.
  4. "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 3).
    Tissue: Lung.
  5. "ccbe1 is required for embryonic lymphangiogenesis and venous sprouting."
    Hogan B.M., Bos F.L., Bussmann J., Witte M., Chi N.C., Duckers H.J., Schulte-Merker S.
    Nat. Genet. 41:396-398(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: TISSUE SPECIFICITY.
  6. Cited for: FUNCTION, VARIANTS HLLS SER-75; SER-102; CYS-158; ARG-174 AND ARG-327.
  7. "Linkage and sequence analysis indicate that CCBE1 is mutated in recessively inherited generalised lymphatic dysplasia."
    Connell F., Kalidas K., Ostergaard P., Brice G., Homfray T., Roberts L., Bunyan D.J., Mitton S., Mansour S., Mortimer P., Jeffery S.
    Hum. Genet. 127:231-241(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT HLLS SER-75.

Entry informationi

Entry nameiCCBE1_HUMAN
AccessioniPrimary (citable) accession number: Q6UXH8
Secondary accession number(s): Q6MZX5, Q86SS2, Q8TF19
Entry historyi
Integrated into UniProtKB/Swiss-Prot: March 6, 2007
Last sequence update: July 5, 2004
Last modified: July 9, 2014
This is version 91 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 18
    Human chromosome 18: 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

External Data

Dasty 3

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