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Aliases for COL4A3BP Gene

Aliases for COL4A3BP Gene

  • Collagen Type IV Alpha 3 Binding Protein 2 3 5
  • Collagen, Type IV, Alpha 3 (Goodpasture Antigen) Binding Protein 2 3
  • StAR-Related Lipid Transfer (START) Domain Containing 11 2 3
  • Ceramide Transfer Protein 3 4
  • Ceramide Transporter 2 3
  • STARD11 3 4
  • HCERT 3 4
  • CERT 3 4
  • GPBP 3 4
  • Collagen Type IV Alpha-3-Binding Protein 3
  • StAR-Related Lipid Transfer Protein 11 4
  • Goodpasture Antigen-Binding Protein 4
  • START Domain-Containing Protein 11 4
  • Lipid-Transfer Protein CERTL 3
  • CERTL 3
  • MRD34 3

External Ids for COL4A3BP Gene

Previous GeneCards Identifiers for COL4A3BP Gene

  • GC05M073482
  • GC05M074905
  • GC05M074703
  • GC05M074754
  • GC05M074753
  • GC05M074705
  • GC05M069872
  • GC05M074664

Summaries for COL4A3BP Gene

Entrez Gene Summary for COL4A3BP Gene

  • This gene encodes a kinase that specifically phosphorylates the N-terminal region of the non-collagenous domain of the alpha 3 chain of type IV collagen, known as the Goodpasture antigen. Goodpasture disease is the result of an autoimmune response directed at this antigen. One isoform of this protein is also involved in ceramide intracellular transport. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for COL4A3BP Gene

COL4A3BP (Collagen Type IV Alpha 3 Binding Protein) is a Protein Coding gene. Diseases associated with COL4A3BP include Mental Retardation, Autosomal Dominant 34 and Goodpasture Syndrome. Among its related pathways are Metabolism and Sphingolipid metabolism. GO annotations related to this gene include protein kinase activity and kinase activity. An important paralog of this gene is PLEKHA8.

UniProtKB/Swiss-Prot for COL4A3BP Gene

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

Gene Wiki entry for COL4A3BP Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for COL4A3BP Gene

Genomics for COL4A3BP Gene

Regulatory Elements for COL4A3BP Gene

Enhancers for COL4A3BP Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH05F075509 0.2 ENCODE 11.6 +0.1 72 5.1 HDGF PKNOX1 ARNT CREB3L1 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF207 SLC25A5P9 LOC100132039 RPL27AP5 NSA2 GCNT4 COL4A3BP ENSG00000272040 HEXB POC5 ENSG00000271815
GH05F075523 1.3 Ensembl ENCODE 11.2 -13.3 -13263 4.0 HDGF RARA SCRT2 ETV6 FOS CREM EGR2 THAP11 HMG20B CEBPB COL4A3BP ANKDD1B GC05M075540
GH05F075533 0.5 ENCODE 11.1 -21.8 -21766 1.2 ZNF121 CEBPA CEBPB CEBPG COL4A3BP POC5 GCNT4 GC05M075540
GH05F075565 1.2 FANTOM5 Ensembl ENCODE 11 -55.1 -55056 3.6 HDGF PKNOX1 ATF1 ARNT SIN3A YY1 GATA2 CBX5 ZNF143 FOS RPS26P26 COL4A3BP ENSG00000271815 ANKRD31 POC5 POLK RNU7-175P ENSG00000248881
GH05F075610 1.1 Ensembl ENCODE 11 -102.4 -102390 8.5 KLF17 ARID4B FEZF1 ZNF48 THRB CHAMP1 SCRT2 KLF7 FOS MIXL1 RPS26P26 GCNT4 COL4A3BP POC5 ANKDD1B RNU6-680P
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around COL4A3BP on UCSC Golden Path with GeneCards custom track

Promoters for COL4A3BP Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001283111 738 5201 HDGF PKNOX1 ARNT CREB3L1 ARID4B SIN3A DMAP1 ZNF2 YY1 CBX5

Genomic Location for COL4A3BP Gene

Chromosome:
5
Start:
75,368,486 bp from pter
End:
75,512,138 bp from pter
Size:
143,653 bases
Orientation:
Minus strand

Genomic View for COL4A3BP Gene

Genes around COL4A3BP on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
COL4A3BP Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for COL4A3BP Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for COL4A3BP Gene

Proteins for COL4A3BP Gene

  • Protein details for COL4A3BP Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y5P4-C43BP_HUMAN
    Recommended name:
    Collagen type IV alpha-3-binding protein
    Protein Accession:
    Q9Y5P4
    Secondary Accessions:
    • A8K7S2
    • B3KUB7
    • Q53YV1
    • Q53YV2
    • Q96Q85
    • Q96Q88
    • Q9H2S7
    • Q9H2S8

    Protein attributes for COL4A3BP Gene

    Size:
    624 amino acids
    Molecular mass:
    70835 Da
    Quaternary structure:
    • Interacts with COL4A3. Interacts with VAPA and VAPB. Interaction with VAPB is less efficient than with VAPA.

    Three dimensional structures from OCA and Proteopedia for COL4A3BP Gene

    Alternative splice isoforms for COL4A3BP Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for COL4A3BP Gene

Post-translational modifications for COL4A3BP Gene

  • 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.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for COL4A3BP Gene

Domains & Families for COL4A3BP Gene

Protein Domains for COL4A3BP Gene

Suggested Antigen Peptide Sequences for COL4A3BP Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9Y5P4

UniProtKB/Swiss-Prot:

C43BP_HUMAN :
  • The START domain recognizes ceramides and diacylglycerol lipids, interacts with membranes, and mediates the intermembrane transfer of ceramides and diacylglycerol lipids.
Domain:
  • The START domain recognizes ceramides and diacylglycerol lipids, interacts with membranes, and mediates the intermembrane transfer of ceramides and diacylglycerol lipids.
  • The PH domain targets the Golgi apparatus.
  • The FFAT motif is required for interaction with VAPA and VAPB.
  • Contains 1 PH domain.
  • Contains 1 START domain.
genes like me logo Genes that share domains with COL4A3BP: view

Function for COL4A3BP Gene

Molecular function for COL4A3BP Gene

UniProtKB/Swiss-Prot Function:
Shelters ceramides and diacylglycerol lipids inside its START domain and mediates the intracellular trafficking of ceramides and diacylglycerol lipids in a non-vesicular manner.

Gene Ontology (GO) - Molecular Function for COL4A3BP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004672 protein kinase activity TAS 10212244
GO:0005515 protein binding IPI 10212244
GO:0008289 lipid binding IEA --
GO:0016301 kinase activity IEA --
GO:0035620 ceramide transporter activity IDA 18184806
genes like me logo Genes that share ontologies with COL4A3BP: view
genes like me logo Genes that share phenotypes with COL4A3BP: view

Human Phenotype Ontology for COL4A3BP Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for COL4A3BP Gene

MGI Knock Outs for COL4A3BP:

Animal Model Products

miRNA for COL4A3BP Gene

miRTarBase miRNAs that target COL4A3BP

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for COL4A3BP Gene

Localization for COL4A3BP Gene

Subcellular locations from UniProtKB/Swiss-Prot for COL4A3BP Gene

Cytoplasm. Golgi apparatus. Endoplasmic reticulum. Note=Preferentially localized to the Golgi apparatus. {ECO:0000305 PubMed:16895911}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for COL4A3BP Gene COMPARTMENTS Subcellular localization image for COL4A3BP gene
Compartment Confidence
cytosol 5
golgi apparatus 5
nucleus 5
endoplasmic reticulum 4
mitochondrion 3

Gene Ontology (GO) - Cellular Components for COL4A3BP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005581 collagen trimer IEA --
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA --
GO:0005739 mitochondrion IEA --
GO:0005783 endoplasmic reticulum IEA --
genes like me logo Genes that share ontologies with COL4A3BP: view

Pathways & Interactions for COL4A3BP Gene

genes like me logo Genes that share pathways with COL4A3BP: view

SIGNOR curated interactions for COL4A3BP Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for COL4A3BP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000902 cell morphogenesis IEA --
GO:0001701 in utero embryonic development IEA --
GO:0003007 heart morphogenesis IEA --
GO:0006468 protein phosphorylation TAS 10212244
GO:0006672 ceramide metabolic process IEA --
genes like me logo Genes that share ontologies with COL4A3BP: view

Drugs & Compounds for COL4A3BP Gene

(2) Drugs for COL4A3BP Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(81) Additional Compounds for COL4A3BP Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
3-O-Sulfogalactosylceramide (d18:1/12:0)
  • 3'-O-Sulphogalactosylceramide
  • 3-O-Sulfo-beta-D-galactosylceramide
  • 3-O-Sulfo-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
  • Cerebroside 3-sulfate
852100-88-0
3-O-Sulfogalactosylceramide (d18:1/14:0)
  • 3'-O-Sulphogalactosylceramide
  • 3-O-Sulfo-beta-D-galactosylceramide
  • 3-O-Sulfo-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
  • Cerebroside 3-sulfate
3-O-Sulfogalactosylceramide (d18:1/16:0)
  • 3'-O-Sulphogalactosylceramide
  • 3-O-Sulfo-beta-D-galactosylceramide
  • 3-O-Sulfo-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
  • Cerebroside 3-sulfate
862509-48-6
3-O-Sulfogalactosylceramide (d18:1/18:0)
  • 3'-O-Sulphogalactosylceramide
  • 3-O-Sulfo-beta-D-galactosylceramide
  • 3-O-Sulfo-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
  • Cerebroside 3-sulfate
244215-65-4
3-O-Sulfogalactosylceramide (d18:1/18:1(9Z))
  • 3'-O-Sulphogalactosylceramide
  • 3-O-Sulfo-beta-D-galactosylceramide
  • 3-O-Sulfo-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
  • Cerebroside 3-sulfate
genes like me logo Genes that share compounds with COL4A3BP: view

Transcripts for COL4A3BP Gene

Unigene Clusters for COL4A3BP Gene

Collagen, type IV, alpha 3 (Goodpasture antigen) binding protein:
Representative Sequences:

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for COL4A3BP Gene

ExUns: 1 ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19a · 19b ^ 20
SP1:
SP2: - -
SP3: - -
SP4: -

Relevant External Links for COL4A3BP Gene

GeneLoc Exon Structure for
COL4A3BP
ECgene alternative splicing isoforms for
COL4A3BP

Expression for COL4A3BP Gene

mRNA expression in normal human tissues for COL4A3BP Gene

Protein differential expression in normal tissues from HIPED for COL4A3BP Gene

This gene is overexpressed in Peripheral blood mononuclear cells (15.1) and Lung (6.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for COL4A3BP Gene



Protein tissue co-expression partners for COL4A3BP Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of COL4A3BP Gene:

COL4A3BP

SOURCE GeneReport for Unigene cluster for COL4A3BP Gene:

Hs.270437

mRNA Expression by UniProt/SwissProt for COL4A3BP Gene:

Q9Y5P4-C43BP_HUMAN
Tissue specificity: Widely expressed.
genes like me logo Genes that share expression patterns with COL4A3BP: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for COL4A3BP Gene

Orthologs for COL4A3BP Gene

This gene was present in the common ancestor of animals.

Orthologs for COL4A3BP Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia COL4A3BP 34 35
  • 99.87 (n)
oppossum
(Monodelphis domestica)
Mammalia COL4A3BP 35
  • 95 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia COL4A3BP 35
  • 95 (a)
OneToOne
cow
(Bos Taurus)
Mammalia COL4A3BP 34 35
  • 93.11 (n)
dog
(Canis familiaris)
Mammalia COL4A3BP 34 35
  • 92.97 (n)
mouse
(Mus musculus)
Mammalia Col4a3bp 34 16 35
  • 90.6 (n)
rat
(Rattus norvegicus)
Mammalia Col4a3bp 34
  • 90.44 (n)
chicken
(Gallus gallus)
Aves COL4A3BP 34 35
  • 86.49 (n)
lizard
(Anolis carolinensis)
Reptilia COL4A3BP 35
  • 95 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia col4a3bp 34
  • 78.82 (n)
col4a3bp-prov 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.12848 34
zebrafish
(Danio rerio)
Actinopterygii COL4A3BP (2 of 2) 35
  • 85 (a)
OneToMany
col4a3bpa 35
  • 77 (a)
OneToMany
LOC797430 34
  • 73.08 (n)
Dr.16824 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007093 34
  • 51.95 (n)
fruit fly
(Drosophila melanogaster)
Insecta cert 34 35
  • 51.6 (n)
BcDNA:GH07688 36
  • 43 (a)
worm
(Caenorhabditis elegans)
Secernentea F25H2.6 36 34 35
  • 47.47 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 48 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.1898 34
Species where no ortholog for COL4A3BP was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for COL4A3BP Gene

ENSEMBL:
Gene Tree for COL4A3BP (if available)
TreeFam:
Gene Tree for COL4A3BP (if available)

Paralogs for COL4A3BP Gene

Paralogs for COL4A3BP Gene

genes like me logo Genes that share paralogs with COL4A3BP: view

Variants for COL4A3BP Gene

Sequence variations from dbSNP and Humsavar for COL4A3BP Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type
VAR_073721 Mental retardation, autosomal dominant 34 (MRD34) [MIM:616351]
rs10038689 -- 75,386,786(+) ACCAC(C/T)GTTTT intron-variant
rs10038723 -- 75,421,828(+) TTCAA(C/T)TCTAC intron-variant
rs10041470 -- 75,453,814(+) CACGC(C/G)TGTAT intron-variant
rs10054531 -- 75,505,322(+) aaaag(A/G)acaac intron-variant

Structural Variations from Database of Genomic Variants (DGV) for COL4A3BP Gene

Variant ID Type Subtype PubMed ID
esv1293475 CNV insertion 17803354
esv1729448 CNV insertion 17803354
esv2621701 CNV deletion 19546169
esv2678661 CNV deletion 23128226
esv2730313 CNV deletion 23290073
esv2730314 CNV deletion 23290073
esv3575856 CNV gain 25503493
esv3605444 CNV loss 21293372
esv3605445 CNV loss 21293372
esv3605446 CNV loss 21293372
nsv1116549 OTHER inversion 24896259
nsv1133360 CNV tandem duplication 24896259
nsv329298 CNV insertion 16902084
nsv329892 CNV deletion 16902084
nsv475714 CNV novel sequence insertion 20440878
nsv980685 CNV duplication 23825009

Variation tolerance for COL4A3BP Gene

Residual Variation Intolerance Score: 16.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.09; 38.13% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for COL4A3BP Gene

Human Gene Mutation Database (HGMD)
COL4A3BP
SNPedia medical, phenotypic, and genealogical associations of SNPs for
COL4A3BP

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for COL4A3BP Gene

Disorders for COL4A3BP Gene

MalaCards: The human disease database

(2) MalaCards diseases for COL4A3BP Gene - From: OMIM, ClinVar, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
mental retardation, autosomal dominant 34
  • mrd34
goodpasture syndrome
  • anti-basement membrane glomerulonephritis
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

C43BP_HUMAN
  • Mental retardation, autosomal dominant 34 (MRD34) [MIM:616351]: A 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. {ECO:0000269 PubMed:25533962}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for COL4A3BP

Genetic Association Database (GAD)
COL4A3BP
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
COL4A3BP
genes like me logo Genes that share disorders with COL4A3BP: view

No data available for Genatlas for COL4A3BP Gene

Publications for COL4A3BP Gene

  1. Characterization of a novel type of serine/threonine kinase that specifically phosphorylates the human goodpasture antigen. (PMID: 10212244) Raya A. … Saus J. (J. Biol. Chem. 1999) 2 3 4 22 64
  2. Molecular machinery for non-vesicular trafficking of ceramide. (PMID: 14685229) Hanada K. … Nishijima M. (Nature 2003) 3 4 22 64
  3. Goodpasture antigen-binding protein, the kinase that phosphorylates the Goodpasture antigen, is an alternatively spliced variant implicated in autoimmune pathogenesis. (PMID: 11007769) Raya A. … Saus J. (J. Biol. Chem. 2000) 3 4 22 64
  4. Crystal structures of the CERT START domain with inhibitors provide insights into the mechanism of ceramide transfer. (PMID: 20036255) Kudo N. … Kato R. (J. Mol. Biol. 2010) 3 4 64
  5. Human biliverdin reductase suppresses Goodpasture antigen-binding protein (GPBP) kinase activity: the reductase regulates tumor necrosis factor-alpha-NF-kappaB-dependent GPBP expression. (PMID: 20177069) Miralem T. … Maines M.D. (J. Biol. Chem. 2010) 3 22 64

Products for COL4A3BP Gene

Sources for COL4A3BP Gene

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