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Entry version 133 (11 Dec 2019)
Sequence version 1 (05 Jul 2004)
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Protein

Collagen and calcium-binding EGF domain-containing protein 1

Gene

CCBE1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

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

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionDevelopmental protein
Biological processAngiogenesis
LigandCalcium

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Collagen and calcium-binding EGF domain-containing protein 1
Alternative name(s):
Full of fluid protein homolog
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:CCBE1
Synonyms:KIAA1983
ORF Names:UNQ1921/PRO4395
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 18

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000183287.13

Human Gene Nomenclature Database

More...
HGNCi
HGNC:29426 CCBE1

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
612753 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q6UXH8

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>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 & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Secreted

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>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 form of Hennekam lymphangiectasia-lymphedema syndrome, 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 some manifest mental retardation. HKLLS1 inheritance is autosomal recessive.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>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

DisGeNET

More...
DisGeNETi
147372

MalaCards human disease database

More...
MalaCardsi
CCBE1
MIMi235510 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000183287

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
2136 Hennekam syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA134880094

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q6UXH8 Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
CCBE1

Domain mapping of disease mutations (DMDM)

More...
DMDMi
74738220

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section denotes the presence of an N-terminal signal peptide.<p><a href='/help/signal' target='_top'>More...</a></p>Signal peptidei1 – 34Sequence analysisAdd BLAST34
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000027951635 – 406Collagen and calcium-binding EGF domain-containing protein 1Add BLAST372

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the PTM / Processing":/help/ptm_processing_section section describes the positions of cysteine residues participating in disulfide bonds.<p><a href='/help/disulfid' target='_top'>More...</a></p>Disulfide bondi138 ↔ 150PROSITE-ProRule annotation
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>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

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q6UXH8

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q6UXH8

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q6UXH8

PeptideAtlas

More...
PeptideAtlasi
Q6UXH8

PRoteomics IDEntifications database

More...
PRIDEi
Q6UXH8

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
67622 [Q6UXH8-1]
67623 [Q6UXH8-2]
67624 [Q6UXH8-3]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q6UXH8

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q6UXH8

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Not expressed in blood or lymphatic endothelial cells.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000183287 Expressed in 147 organ(s), highest expression level in neocortex

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q6UXH8 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q6UXH8 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA041361
HPA041374

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Show more details

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
127056, 6 interactors

Protein interaction database and analysis system

More...
IntActi
Q6UXH8, 11 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000404464

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
Q6UXH8 protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...
SMRi
Q6UXH8

Database of comparative protein structure models

More...
ModBasei
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini134 – 175EGF-like; calcium-bindingPROSITE-ProRule annotationAdd BLAST42
Domaini245 – 290Collagen-like 1Add BLAST46
Domaini300 – 333Collagen-like 2Add BLAST34

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the CCBE1 family.Curated

Keywords - Domaini

Collagen, EGF-like domain, Repeat, Signal

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
ENOG410IRWI Eukaryota
ENOG4111SKA LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00390000014907

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000111400

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q6UXH8

KEGG Orthology (KO)

More...
KOi
K19638

Identification of Orthologs from Complete Genome Data

More...
OMAi
QLKQKMA

Database of Orthologous Groups

More...
OrthoDBi
1011346at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q6UXH8

TreeFam database of animal gene trees

More...
TreeFami
TF333138

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View 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

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF01391 Collagen, 1 hit
PF07645 EGF_CA, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00181 EGF, 2 hits
SM00179 EGF_CA, 2 hits

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS00010 ASX_HYDROXYL, 1 hit
PS01186 EGF_2, 1 hit
PS50026 EGF_3, 1 hit
PS01187 EGF_CA, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (3+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 3 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q6UXH8-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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

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.

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

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A0A0MS88A0A0A0MS88_HUMAN
Collagen and calcium-binding EGF do...
CCBE1
336Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A3B3IRL6A0A3B3IRL6_HUMAN
Collagen and calcium-binding EGF do...
CCBE1
287Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
K7EQ81K7EQ81_HUMAN
Collagen and calcium-binding EGF do...
CCBE1
46Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>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
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>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:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
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

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS32838.1 [Q6UXH8-1]

NCBI Reference Sequences

More...
RefSeqi
NP_597716.1, NM_133459.3 [Q6UXH8-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000439986; ENSP00000404464; ENSG00000183287 [Q6UXH8-1]
ENST00000649564; ENSP00000497183; ENSG00000183287 [Q6UXH8-1]

Database of genes from NCBI RefSeq genomes

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GeneIDi
147372

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:147372

UCSC genome browser

More...
UCSCi
uc002lib.4 human [Q6UXH8-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

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]

3D structure databases

SMRiQ6UXH8
ModBaseiSearch...

Protein-protein interaction databases

BioGridi127056, 6 interactors
IntActiQ6UXH8, 11 interactors
STRINGi9606.ENSP00000404464

PTM databases

iPTMnetiQ6UXH8
PhosphoSitePlusiQ6UXH8

Polymorphism and mutation databases

BioMutaiCCBE1
DMDMi74738220

Proteomic databases

jPOSTiQ6UXH8
MassIVEiQ6UXH8
PaxDbiQ6UXH8
PeptideAtlasiQ6UXH8
PRIDEiQ6UXH8
ProteomicsDBi67622 [Q6UXH8-1]
67623 [Q6UXH8-2]
67624 [Q6UXH8-3]

Genome annotation databases

EnsembliENST00000439986; ENSP00000404464; ENSG00000183287 [Q6UXH8-1]
ENST00000649564; ENSP00000497183; ENSG00000183287 [Q6UXH8-1]
GeneIDi147372
KEGGihsa:147372
UCSCiuc002lib.4 human [Q6UXH8-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
147372
DisGeNETi147372
EuPathDBiHostDB:ENSG00000183287.13

GeneCards: human genes, protein and diseases

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GeneCardsi
CCBE1
HGNCiHGNC:29426 CCBE1
HPAiHPA041361
HPA041374
MalaCardsiCCBE1
MIMi235510 phenotype
612753 gene
neXtProtiNX_Q6UXH8
OpenTargetsiENSG00000183287
Orphaneti2136 Hennekam syndrome
PharmGKBiPA134880094

Human Unidentified Gene-Encoded large proteins database

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HUGEi
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GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410IRWI Eukaryota
ENOG4111SKA LUCA
GeneTreeiENSGT00390000014907
HOGENOMiHOG000111400
InParanoidiQ6UXH8
KOiK19638
OMAiQLKQKMA
OrthoDBi1011346at2759
PhylomeDBiQ6UXH8
TreeFamiTF333138

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
CCBE1 human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
CCBE1

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
147372
PharosiQ6UXH8 Tbio

Protein Ontology

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PROi
PR:Q6UXH8
RNActiQ6UXH8 protein

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000183287 Expressed in 147 organ(s), highest expression level in neocortex
ExpressionAtlasiQ6UXH8 baseline and differential
GenevisibleiQ6UXH8 HS

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

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
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<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiCCBE1_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q6UXH8
Secondary accession number(s): Q6MZX5, Q86SS2, Q8TF19
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: March 6, 2007
Last sequence update: July 5, 2004
Last modified: December 11, 2019
This is version 133 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  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. Human chromosome 18
    Human chromosome 18: entries, gene names and cross-references to MIM
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