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Q6UXH8

- CCBE1_HUMAN

UniProt

Q6UXH8 - CCBE1_HUMAN

Protein

Collagen and calcium-binding EGF domain-containing protein 1

Gene

CCBE1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 92 (01 Oct 2014)
      Sequence version 1 (05 Jul 2004)
      Previous versions | rss
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    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

    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

    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 Curated

    GO - Cellular componenti

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

    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.2 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    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 – 3434Sequence AnalysisAdd
    BLAST
    Chaini35 – 406372Collagen and calcium-binding EGF domain-containing protein 1PRO_0000279516Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Disulfide bondi138 ↔ 150PROSITE-ProRule annotation
    Glycosylationi142 – 1421N-linked (GlcNAc...)Sequence Analysis
    Disulfide bondi146 ↔ 159PROSITE-ProRule annotation
    Disulfide bondi161 ↔ 174PROSITE-ProRule annotation
    Glycosylationi182 – 1821N-linked (GlcNAc...)Sequence Analysis

    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.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

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

    Sequence similaritiesi

    Belongs to the CCBE1 family.Curated
    Contains 2 collagen-like domains.Curated
    Contains 1 EGF-like domain.PROSITE-ProRule annotation

    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. 1 PublicationVSP_023470Add
    BLAST
    Alternative sequencei1 – 191191Missing in isoform 3. 1 PublicationVSP_023469Add
    BLAST
    Alternative sequencei272 – 30534MPGPP…RRGPV → MQLTWASISLVTRCWPQTPT FQDLLACLGARALP in isoform 2. 1 PublicationVSP_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...
    MobiDBi 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

    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: October 1, 2014
    This is version 92 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