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Protein

Collagen and calcium-binding EGF domain-containing protein 1

Gene

CCBE1

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

Functioni

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

GO - Molecular functioni

  • calcium ion binding Source: InterPro
  • collagen binding Source: MGI
  • protease binding Source: BHF-UCL

GO - Biological processi

Keywordsi

Molecular functionDevelopmental protein
Biological processAngiogenesis
LigandCalcium

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
Proteomesi
  • UP000005640 Componenti: Chromosome 18

Organism-specific databases

EuPathDBiHostDB:ENSG00000183287.13
HGNCiHGNC:29426 CCBE1
MIMi612753 gene
neXtProtiNX_Q6UXH8

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Secreted

Pathology & Biotechi

Involvement in diseasei

Hennekam lymphangiectasia-lymphedema syndrome 1 (HKLLS1)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:235510
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06374675C → S in HKLLS1. 2 PublicationsCorresponds to variant dbSNP:rs121908250EnsemblClinVar.1
Natural variantiVAR_063747102C → S in HKLLS1. 1 PublicationCorresponds to variant dbSNP:rs121908251EnsemblClinVar.1
Natural variantiVAR_063748158R → C in HKLLS1. 1 PublicationCorresponds to variant dbSNP:rs121908253EnsemblClinVar.1
Natural variantiVAR_063749174C → R in HKLLS1. 1 PublicationCorresponds to variant dbSNP:rs121908254EnsemblClinVar.1
Natural variantiVAR_063750327G → R in HKLLS1. 1 PublicationCorresponds to variant dbSNP:rs121908252EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Mental retardation

Organism-specific databases

DisGeNETi147372
MalaCardsiCCBE1
MIMi235510 phenotype
OpenTargetsiENSG00000183287
Orphaneti2136 Hennekam syndrome
PharmGKBiPA134880094

Polymorphism and mutation databases

BioMutaiCCBE1
DMDMi74738220

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 34Sequence analysisAdd BLAST34
ChainiPRO_000027951635 – 406Collagen and calcium-binding EGF domain-containing protein 1Add BLAST372

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Disulfide bondi138 ↔ 150PROSITE-ProRule annotation
Glycosylationi142N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi146 ↔ 159PROSITE-ProRule annotation
Disulfide bondi161 ↔ 174PROSITE-ProRule annotation
Glycosylationi182N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

PaxDbiQ6UXH8
PeptideAtlasiQ6UXH8
PRIDEiQ6UXH8
ProteomicsDBi67622
67623 [Q6UXH8-2]
67624 [Q6UXH8-3]

PTM databases

iPTMnetiQ6UXH8
PhosphoSitePlusiQ6UXH8

Expressioni

Tissue specificityi

Not expressed in blood or lymphatic endothelial cells.1 Publication

Gene expression databases

BgeeiENSG00000183287
CleanExiHS_CCBE1
ExpressionAtlasiQ6UXH8 baseline and differential
GenevisibleiQ6UXH8 HS

Organism-specific databases

HPAiHPA041361
HPA041374

Interactioni

Binary interactionsi

Show more details

GO - Molecular functioni

  • protease binding Source: BHF-UCL

Protein-protein interaction databases

BioGridi127056, 5 interactors
IntActiQ6UXH8, 10 interactors
STRINGi9606.ENSP00000404464

Structurei

3D structure databases

ProteinModelPortaliQ6UXH8
SMRiQ6UXH8
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini134 – 175EGF-like; calcium-bindingPROSITE-ProRule annotationAdd BLAST42
Domaini245 – 290Collagen-like 1Add BLAST46
Domaini300 – 333Collagen-like 2Add BLAST34

Sequence similaritiesi

Belongs to the CCBE1 family.Curated

Keywords - Domaini

Collagen, EGF-like domain, Repeat, Signal

Phylogenomic databases

eggNOGiENOG410IRWI Eukaryota
ENOG4111SKA LUCA
GeneTreeiENSGT00390000014907
HOGENOMiHOG000111400
HOVERGENiHBG081035
InParanoidiQ6UXH8
KOiK19638
OMAiYPNDTGH
OrthoDBiEOG091G0FDT
PhylomeDBiQ6UXH8
TreeFamiTF333138

Family and domain databases

InterProiView protein in InterPro
IPR008160 Collagen
IPR001881 EGF-like_Ca-bd_dom
IPR013032 EGF-like_CS
IPR000742 EGF-like_dom
IPR000152 EGF-type_Asp/Asn_hydroxyl_site
IPR018097 EGF_Ca-bd_CS
PfamiView protein in Pfam
PF01391 Collagen, 1 hit
PF07645 EGF_CA, 1 hit
SMARTiView protein in SMART
SM00181 EGF, 2 hits
SM00179 EGF_CA, 2 hits
PROSITEiView protein in PROSITE
PS00010 ASX_HYDROXYL, 1 hit
PS01186 EGF_2, 1 hit
PS50026 EGF_3, 1 hit
PS01187 EGF_CA, 1 hit

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. AlignAdd to basket

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

        10         20         30         40         50
MVPPPPSRGG AARGQLGRSL GPLLLLLALG HTWTYREEPE DGDREICSES
60 70 80 90 100
KIATTKYPCL KSSGELTTCY RKKCCKGYKF VLGQCIPEDY DVCAEAPCEQ
110 120 130 140 150
QCTDNFGRVL CTCYPGYRYD RERHRKREKP YCLDIDECAS SNGTLCAHIC
160 170 180 190 200
INTLGSYRCE CREGYIREDD GKTCTRGDKY PNDTGHEKSE NMVKAGTCCA
210 220 230 240 250
TCKEFYQMKQ TVLQLKQKIA LLPNNAADLG KYITGDKVLA SNTYLPGPPG
260 270 280 290 300
LPGGQGPPGS PGPKGSPGFP GMPGPPGQPG PRGSMGPMGP SPDLSHIKQG
310 320 330 340 350
RRGPVGPPGA PGRDGSKGER GAPGPRGSPG PPGSFDFLLL MLADIRNDIT
360 370 380 390 400
ELQEKVFGHR THSSAEEFPL PQEFPSYPEA MDLGSGDDHP RRTETRDLRA

PRDFYP
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 differs from that shown. Reason: Erroneous initiation.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06374675C → S in HKLLS1. 2 PublicationsCorresponds to variant dbSNP:rs121908250EnsemblClinVar.1
Natural variantiVAR_063747102C → S in HKLLS1. 1 PublicationCorresponds to variant dbSNP:rs121908251EnsemblClinVar.1
Natural variantiVAR_063748158R → C in HKLLS1. 1 PublicationCorresponds to variant dbSNP:rs121908253EnsemblClinVar.1
Natural variantiVAR_063749174C → R in HKLLS1. 1 PublicationCorresponds to variant dbSNP:rs121908254EnsemblClinVar.1
Natural variantiVAR_048971193V → G. Corresponds to variant dbSNP:rs11659589Ensembl.1
Natural variantiVAR_063750327G → R in HKLLS1. 1 PublicationCorresponds to variant dbSNP:rs121908252EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0234701 – 271Missing in isoform 2. 1 PublicationAdd BLAST271
Alternative sequenceiVSP_0234691 – 191Missing in isoform 3. 1 PublicationAdd BLAST191
Alternative sequenceiVSP_023471272 – 305MPGPP…RRGPV → MQLTWASISLVTRCWPQTPT FQDLLACLGARALP in isoform 2. 1 PublicationAdd BLAST34

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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]
UniGeneiHs.34333

Genome annotation databases

EnsembliENST00000439986; ENSP00000404464; ENSG00000183287 [Q6UXH8-1]
GeneIDi147372
KEGGihsa:147372
UCSCiuc002lib.4 human [Q6UXH8-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiCCBE1_HUMAN
AccessioniPrimary (citable) accession number: Q6UXH8
Secondary accession number(s): Q6MZX5, Q86SS2, Q8TF19
Entry historyiIntegrated into UniProtKB/Swiss-Prot: March 6, 2007
Last sequence update: July 5, 2004
Last modified: July 18, 2018
This is version 123 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

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

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