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Protein

Collagen type IV alpha-3-binding protein

Gene

COL4A3BP

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

Shelters ceramides and diacylglycerol lipids inside its START domain and mediates the intracellular trafficking of ceramides and diacylglycerol lipids in a non-vesicular manner.4 Publications

Caution

Was originally reported to have a protein kinase activity and to phosphorylate on Ser and Thr residues the Goodpasture autoantigen (in vitro).1 Publication

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ section describes the interaction between a single amino acid and another chemical entity. Priority is given to the annotation of physiological ligands.<p><a href='/help/binding' target='_top'>More...</a></p>Binding sitei472Ceramide2 Publications1
Binding sitei493Ceramide2 Publications1
Binding sitei530Ceramide2 Publications1
Binding sitei579Ceramide2 Publications1

<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

Biological processLipid transport, Transport
LigandLipid-binding

Enzyme and pathway databases

BRENDA Comprehensive Enzyme Information System

More...
BRENDAi
2.7.11.9 2681

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-1660661 Sphingolipid de novo biosynthesis

SIGNOR Signaling Network Open Resource

More...
SIGNORi
Q9Y5P4

Chemistry databases

SwissLipids knowledge resource for lipid biology

More...
SwissLipidsi
SLP:000000407

<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 type IV alpha-3-binding protein
Alternative name(s):
Ceramide transfer protein1 Publication
Short name:
hCERT
Goodpasture antigen-binding protein
Short name:
GPBP
START domain-containing protein 11
Short name:
StARD11
StAR-related lipid transfer protein 11
<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:COL4A3BP
Synonyms:CERT, STARD11
<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 5

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000113163.15

Human Gene Nomenclature Database

More...
HGNCi
HGNC:2205 COL4A3BP

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
604677 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9Y5P4

<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; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Endoplasmic reticulum, Golgi apparatus

<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

Mental retardation, autosomal dominant 34 (MRD34)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of mental retardation, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period.
See also OMIM:616351
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_073721132S → L in MRD34. 1 PublicationCorresponds to variant dbSNP:rs1064794019Ensembl.1
Natural variantiVAR_078652243G → R in MRD34; associated with authism and epilepsy. 1 Publication1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi132S → A: Abolishes the phosphorylation. Strongly reduces the interaction with phosphatidylinositol 4-phosphate. Increases the ceramide transfer activity. 1 Publication1
Mutagenesisi324D → A: Impairs the endoplasmic reticulum-to-Golgi ceramide trafficking and abolishes the interaction with VAPA. 1 Publication1
Mutagenesisi472E → A: Reduces ceramide transfer. 1 Publication1
Mutagenesisi493Q → A: No effect on ceramide transfer activity. 1 Publication1
Mutagenesisi499W → A: Reduces affinity for membranes. Abolishes ceramide transfer; when associated with A-588. 1 Publication1
Mutagenesisi530N → A: Reduces ceramide transfer. 1 Publication1
Mutagenesisi588W → A: Abolishes ceramide transfer; when associated with A-499. 1

Keywords - Diseasei

Disease mutation, Mental retardation

Organism-specific databases

DisGeNET

More...
DisGeNETi
10087

MalaCards human disease database

More...
MalaCardsi
COL4A3BP
MIMi616351 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000113163

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA26720

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...
ChEMBLi
CHEMBL3399913

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
COL4A3BP

Domain mapping of disease mutations (DMDM)

More...
DMDMi
20978413

<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 describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002206651 – 624Collagen type IV alpha-3-binding proteinAdd BLAST624

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei126PhosphoserineCombined sources1
Modified residuei132Phosphoserine; by PKD1 Publication1
Modified residuei135PhosphoserineBy similarity1
Modified residuei315PhosphoserineCombined sources1
Modified residuei372PhosphotyrosineCombined sources1
Modified residuei373PhosphoserineCombined sources1
Modified residuei377PhosphoserineCombined sources1
Modified residuei380PhosphoserineCombined sources1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Phosphorylation on Ser-132 decreases the affinity toward phosphatidylinositol 4-phosphate at Golgi membranes and reduces ceramide transfer activity. Inactivated by hyperphosphorylation of serine residues by CSNK1G2/CK1 that triggers dissociation from the Golgi complex, thus down-regulating ER-to-Golgi transport of ceramide and sphingomyelin synthesis.2 Publications

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q9Y5P4

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

More...
PaxDbi
Q9Y5P4

PeptideAtlas

More...
PeptideAtlasi
Q9Y5P4

PRoteomics IDEntifications database

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PRIDEi
Q9Y5P4

ProteomicsDB human proteome resource

More...
ProteomicsDBi
86463
86464 [Q9Y5P4-2]
86465 [Q9Y5P4-3]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q9Y5P4

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

More...
PhosphoSitePlusi
Q9Y5P4

<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

Widely expressed.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000113163 Expressed in 235 organ(s), highest expression level in cerebellar vermis

CleanEx database of gene expression profiles

More...
CleanExi
HS_COL4A3BP

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q9Y5P4 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q9Y5P4 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA035645
HPA042608

<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">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with COL4A3. Interacts with VAPA and VAPB. Interaction with VAPB is less efficient than with VAPA.1 Publication

<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

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
115396, 30 interactors

The Eukaryotic Linear Motif resource for Functional Sites in Proteins

More...
ELMi
Q9Y5P4

Protein interaction database and analysis system

More...
IntActi
Q9Y5P4, 21 interactors

Molecular INTeraction database

More...
MINTi
Q9Y5P4

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000369862

Chemistry databases

BindingDB database of measured binding affinities

More...
BindingDBi
Q9Y5P4

<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

Secondary structure

1624
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
Q9Y5P4

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

More...
SMRi
Q9Y5P4

Database of comparative protein structure models

More...
ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...
EvolutionaryTracei
Q9Y5P4

<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>Domaini23 – 117PHPROSITE-ProRule annotationAdd BLAST95
Domaini389 – 618STARTPROSITE-ProRule annotationAdd BLAST230

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and domains’ section denotes the positions of regions of coiled coil within the protein.<p><a href='/help/coiled' target='_top'>More...</a></p>Coiled coili263 – 303Sequence analysisAdd BLAST41

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a short (usually not more than 20 amino acids) conserved sequence motif of biological significance.<p><a href='/help/motif' target='_top'>More...</a></p>Motifi321 – 327FFAT1 Publication7

<p>This subsection of the ‘Family and domains’ section provides general information on the biological role of a domain. The term ‘domain’ is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

The START domain recognizes ceramides and diacylglycerol lipids, interacts with membranes, and mediates the intermembrane transfer of ceramides and diacylglycerol lipids.1 Publication
The PH domain targets the Golgi apparatus.1 Publication
The FFAT motif is required for interaction with VAPA and VAPB.1 Publication

Keywords - Domaini

Coiled coil

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG1739 Eukaryota
ENOG410XQTB LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000155123

The HOVERGEN Database of Homologous Vertebrate Genes

More...
HOVERGENi
HBG050753

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q9Y5P4

KEGG Orthology (KO)

More...
KOi
K08283

Identification of Orthologs from Complete Genome Data

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OMAi
WPTSMPS

Database of Orthologous Groups

More...
OrthoDBi
EOG091G063Z

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q9Y5P4

TreeFam database of animal gene trees

More...
TreeFami
TF106160

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
2.30.29.30, 1 hit
3.30.530.20, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR011993 PH-like_dom_sf
IPR001849 PH_domain
IPR023393 START-like_dom_sf
IPR002913 START_lipid-bd_dom

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00169 PH, 1 hit
PF01852 START, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00233 PH, 1 hit
SM00234 START, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS50003 PH_DOMAIN, 1 hit
PS50848 START, 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>.<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.

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 18 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9Y5P4-1) [UniParc]FASTAAdd to basket
Also known as: CERTL1 Publication

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
MSDNQSWNSS GSEEDPETES GPPVERCGVL SKWTNYIHGW QDRWVVLKNN
60 70 80 90 100
ALSYYKSEDE TEYGCRGSIC LSKAVITPHD FDECRFDISV NDSVWYLRAQ
110 120 130 140 150
DPDHRQQWID AIEQHKTESG YGSESSLRRH GSMVSLVSGA SGYSATSTSS
160 170 180 190 200
FKKGHSLREK LAEMETFRDI LCRQVDTLQK YFDACADAVS KDELQRDKVV
210 220 230 240 250
EDDEDDFPTT RSDGDFLHST NGNKEKLFPH VTPKGINGID FKGEAITFKA
260 270 280 290 300
TTAGILATLS HCIELMVKRE DSWQKRLDKE TEKKRRTEEA YKNAMTELKK
310 320 330 340 350
KSHFGGPDYE EGPNSLINEE EFFDAVEAAL DRQDKIEEQS QSEKVRLHWP
360 370 380 390 400
TSLPSGDAFS SVGTHRFVQK PYSRSSSMSS IDLVSASDDV HRFSSQVEEM
410 420 430 440 450
VQNHMTYSLQ DVGGDANWQL VVEEGEMKVY RREVEENGIV LDPLKATHAV
460 470 480 490 500
KGVTGHEVCN YFWNVDVRND WETTIENFHV VETLADNAII IYQTHKRVWP
510 520 530 540 550
ASQRDVLYLS VIRKIPALTE NDPETWIVCN FSVDHDSAPL NNRCVRAKIN
560 570 580 590 600
VAMICQTLVS PPEGNQEISR DNILCKITYV ANVNPGGWAP ASVLRAVAKR
610 620
EYPKFLKRFT SYVQEKTAGK PILF
Length:624
Mass (Da):70,835
Last modified:November 1, 1999 - 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:iA125162492AC5A0E
GO
Isoform 2 (identifier: Q9Y5P4-2) [UniParc]FASTAAdd to basket
Also known as: Delta26, GPBPD26, CERT1 Publication

The sequence of this isoform differs from the canonical sequence as follows:
     371-396: Missing.

Show »
Length:598
Mass (Da):68,007
Checksum:iFC52E241DE7C5D85
GO
Isoform 3 (identifier: Q9Y5P4-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MQHSCIPTPP...GLLLGCRASM

Show »
Length:752
Mass (Da):83,708
Checksum:i277A14A581D94EDF
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 18 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A2R8Y7C5A0A2R8Y7C5_HUMAN
Collagen type IV alpha-3-binding pr...
COL4A3BP
605Annotation 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>
A0A2R8Y7Q9A0A2R8Y7Q9_HUMAN
Collagen type IV alpha-3-binding pr...
COL4A3BP
566Annotation 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>
A0A2R8YE18A0A2R8YE18_HUMAN
Collagen type IV alpha-3-binding pr...
COL4A3BP
584Annotation 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>
A0A2R8Y5H3A0A2R8Y5H3_HUMAN
Collagen type IV alpha-3-binding pr...
COL4A3BP
521Annotation 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>
A0A2R8YE59A0A2R8YE59_HUMAN
Collagen type IV alpha-3-binding pr...
COL4A3BP
406Annotation 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>
A0A2R8Y5S9A0A2R8Y5S9_HUMAN
Collagen type IV alpha-3-binding pr...
COL4A3BP
596Annotation 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>
A0A2R8YFA1A0A2R8YFA1_HUMAN
Collagen type IV alpha-3-binding pr...
COL4A3BP
405Annotation 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>
A0A2R8YFI2A0A2R8YFI2_HUMAN
Collagen type IV alpha-3-binding pr...
COL4A3BP
311Annotation 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>
A0A2R8YEA4A0A2R8YEA4_HUMAN
Collagen type IV alpha-3-binding pr...
COL4A3BP
381Annotation 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>
H0Y9J1H0Y9J1_HUMAN
Collagen type IV alpha-3-binding pr...
COL4A3BP
143Annotation 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>
There are more potential isoformsShow all

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_073721132S → L in MRD34. 1 PublicationCorresponds to variant dbSNP:rs1064794019Ensembl.1
Natural variantiVAR_069403138S → C Found in a patient with mental retardation. 1 Publication1
Natural variantiVAR_078652243G → R in MRD34; associated with authism and epilepsy. 1 Publication1
Natural variantiVAR_061815599K → R. Corresponds to variant dbSNP:rs55882089Ensembl.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. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0410221M → MQHSCIPTPPSPFSAPPAFL PVVTRESRRGLSSGGSAGRN AGVTATAAAADGWKGRLPSP LVLLPRSARCQARRRRGGRT SSLLLLPPTPERALFASPSP DPSPRGLGASSGAAEGAGAG LLLGCRASM in isoform 3. 1 Publication1
Alternative sequenceiVSP_006276371 – 396Missing in isoform 2. 4 PublicationsAdd BLAST26

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AF136450 mRNA Translation: AAD30288.1
AF232930 mRNA Translation: AAG42046.1
AF232935 Genomic DNA Translation: AAG42051.1
AY453385 mRNA Translation: AAR26717.1
AY453386 mRNA Translation: AAR26718.1
AK091851 mRNA Translation: BAC03762.1
AK096854 mRNA Translation: BAG53379.1
AK292087 mRNA Translation: BAF84776.1
AC008897 Genomic DNA No translation available.
AC112183 Genomic DNA No translation available.
AC116341 Genomic DNA No translation available.
CH471084 Genomic DNA Translation: EAW95757.1
CH471084 Genomic DNA Translation: EAW95760.1
BC000102 mRNA Translation: AAH00102.1
AB036934 Genomic DNA Translation: BAB58974.1
AB036936 Genomic DNA Translation: BAB58977.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS4028.1 [Q9Y5P4-1]
CCDS4029.1 [Q9Y5P4-2]
CCDS47235.1 [Q9Y5P4-3]

NCBI Reference Sequences

More...
RefSeqi
NP_001123577.1, NM_001130105.1 [Q9Y5P4-3]
NP_005704.1, NM_005713.2 [Q9Y5P4-1]
NP_112729.1, NM_031361.2 [Q9Y5P4-2]
XP_006714576.1, XM_006714513.2 [Q9Y5P4-1]
XP_016864408.1, XM_017008919.1 [Q9Y5P4-2]

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.270437

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000261415; ENSP00000261415; ENSG00000113163 [Q9Y5P4-1]
ENST00000405807; ENSP00000383996; ENSG00000113163 [Q9Y5P4-1]
ENST00000643780; ENSP00000495760; ENSG00000113163 [Q9Y5P4-1]
ENST00000644072; ENSP00000494110; ENSG00000113163 [Q9Y5P4-3]
ENST00000644445; ENSP00000496243; ENSG00000113163 [Q9Y5P4-2]
ENST00000645483; ENSP00000493563; ENSG00000113163 [Q9Y5P4-2]
ENST00000646511; ENSP00000495446; ENSG00000113163 [Q9Y5P4-2]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
10087

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:10087

UCSC genome browser

More...
UCSCi
uc003kds.4 human [Q9Y5P4-1]

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
AF136450 mRNA Translation: AAD30288.1
AF232930 mRNA Translation: AAG42046.1
AF232935 Genomic DNA Translation: AAG42051.1
AY453385 mRNA Translation: AAR26717.1
AY453386 mRNA Translation: AAR26718.1
AK091851 mRNA Translation: BAC03762.1
AK096854 mRNA Translation: BAG53379.1
AK292087 mRNA Translation: BAF84776.1
AC008897 Genomic DNA No translation available.
AC112183 Genomic DNA No translation available.
AC116341 Genomic DNA No translation available.
CH471084 Genomic DNA Translation: EAW95757.1
CH471084 Genomic DNA Translation: EAW95760.1
BC000102 mRNA Translation: AAH00102.1
AB036934 Genomic DNA Translation: BAB58974.1
AB036936 Genomic DNA Translation: BAB58977.1
CCDSiCCDS4028.1 [Q9Y5P4-1]
CCDS4029.1 [Q9Y5P4-2]
CCDS47235.1 [Q9Y5P4-3]
RefSeqiNP_001123577.1, NM_001130105.1 [Q9Y5P4-3]
NP_005704.1, NM_005713.2 [Q9Y5P4-1]
NP_112729.1, NM_031361.2 [Q9Y5P4-2]
XP_006714576.1, XM_006714513.2 [Q9Y5P4-1]
XP_016864408.1, XM_017008919.1 [Q9Y5P4-2]
UniGeneiHs.270437

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...
PDBei

Protein Data Bank RCSB

More...
RCSB PDBi

Protein Data Bank Japan

More...
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2E3MX-ray2.20A347-624[»]
2E3NX-ray1.40A347-624[»]
2E3OX-ray1.55A347-624[»]
2E3PX-ray1.40A/B347-624[»]
2E3QX-ray2.08A347-624[»]
2E3RX-ray1.65A/B347-624[»]
2E3SX-ray1.94A347-624[»]
2RSGNMR-A24-117[»]
2Z9YX-ray1.80A347-624[»]
2Z9ZX-ray1.74A347-624[»]
3H3QX-ray2.00A/B347-624[»]
3H3RX-ray1.85A/B347-624[»]
3H3SX-ray1.66A/B347-624[»]
3H3TX-ray2.40A/B347-624[»]
4HHVX-ray1.75A/B20-121[»]
5JJDX-ray2.40A20-122[»]
B385-624[»]
ProteinModelPortaliQ9Y5P4
SMRiQ9Y5P4
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi115396, 30 interactors
ELMiQ9Y5P4
IntActiQ9Y5P4, 21 interactors
MINTiQ9Y5P4
STRINGi9606.ENSP00000369862

Chemistry databases

BindingDBiQ9Y5P4
ChEMBLiCHEMBL3399913
SwissLipidsiSLP:000000407

PTM databases

iPTMnetiQ9Y5P4
PhosphoSitePlusiQ9Y5P4

Polymorphism and mutation databases

BioMutaiCOL4A3BP
DMDMi20978413

Proteomic databases

EPDiQ9Y5P4
PaxDbiQ9Y5P4
PeptideAtlasiQ9Y5P4
PRIDEiQ9Y5P4
ProteomicsDBi86463
86464 [Q9Y5P4-2]
86465 [Q9Y5P4-3]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000261415; ENSP00000261415; ENSG00000113163 [Q9Y5P4-1]
ENST00000405807; ENSP00000383996; ENSG00000113163 [Q9Y5P4-1]
ENST00000643780; ENSP00000495760; ENSG00000113163 [Q9Y5P4-1]
ENST00000644072; ENSP00000494110; ENSG00000113163 [Q9Y5P4-3]
ENST00000644445; ENSP00000496243; ENSG00000113163 [Q9Y5P4-2]
ENST00000645483; ENSP00000493563; ENSG00000113163 [Q9Y5P4-2]
ENST00000646511; ENSP00000495446; ENSG00000113163 [Q9Y5P4-2]
GeneIDi10087
KEGGihsa:10087
UCSCiuc003kds.4 human [Q9Y5P4-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
10087
DisGeNETi10087
EuPathDBiHostDB:ENSG00000113163.15

GeneCards: human genes, protein and diseases

More...
GeneCardsi
COL4A3BP
HGNCiHGNC:2205 COL4A3BP
HPAiHPA035645
HPA042608
MalaCardsiCOL4A3BP
MIMi604677 gene
616351 phenotype
neXtProtiNX_Q9Y5P4
OpenTargetsiENSG00000113163
PharmGKBiPA26720

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG1739 Eukaryota
ENOG410XQTB LUCA
GeneTreeiENSGT00940000155123
HOVERGENiHBG050753
InParanoidiQ9Y5P4
KOiK08283
OMAiWPTSMPS
OrthoDBiEOG091G063Z
PhylomeDBiQ9Y5P4
TreeFamiTF106160

Enzyme and pathway databases

BRENDAi2.7.11.9 2681
ReactomeiR-HSA-1660661 Sphingolipid de novo biosynthesis
SIGNORiQ9Y5P4

Miscellaneous databases

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

More...
ChiTaRSi
COL4A3BP human
EvolutionaryTraceiQ9Y5P4

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
COL4A3BP

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

More...
GenomeRNAii
10087

Protein Ontology

More...
PROi
PR:Q9Y5P4

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000113163 Expressed in 235 organ(s), highest expression level in cerebellar vermis
CleanExiHS_COL4A3BP
ExpressionAtlasiQ9Y5P4 baseline and differential
GenevisibleiQ9Y5P4 HS

Family and domain databases

Gene3Di2.30.29.30, 1 hit
3.30.530.20, 1 hit
InterProiView protein in InterPro
IPR011993 PH-like_dom_sf
IPR001849 PH_domain
IPR023393 START-like_dom_sf
IPR002913 START_lipid-bd_dom
PfamiView protein in Pfam
PF00169 PH, 1 hit
PF01852 START, 1 hit
SMARTiView protein in SMART
SM00233 PH, 1 hit
SM00234 START, 1 hit
PROSITEiView protein in PROSITE
PS50003 PH_DOMAIN, 1 hit
PS50848 START, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

<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 nameiC43BP_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: Q9Y5P4
Secondary accession number(s): A8K7S2
, B3KUB7, Q53YV1, Q53YV2, Q96Q85, Q96Q88, Q9H2S7, Q9H2S8
<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: May 15, 2002
Last sequence update: November 1, 1999
Last modified: December 5, 2018
This is version 169 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

3D-structure, Complete proteome, Reference proteome

Documents

  1. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  2. Human chromosome 5
    Human chromosome 5: entries, gene names and cross-references to MIM
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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