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Aliases for COL4A3BP Gene

Aliases for COL4A3BP Gene

  • 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

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 (Goodpasture Antigen) Binding Protein) is a Protein Coding gene. Diseases associated with COL4A3BP include goodpasture syndrome and alport syndrome. Among its related pathways are Sphingolipid metabolism and Metabolism. GO annotations related to this gene include protein kinase activity and ceramide binding. An important paralog of this gene is PLEKHA3.

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

Transcription factor binding sites by QIAGEN in the COL4A3BP gene promoter:

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for COL4A3BP Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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

Proteomics data for COL4A3BP Gene at MOPED

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

Other Protein References for COL4A3BP Gene

Antibody Products

No data available for DME Specific Peptides for COL4A3BP Gene

Domains for COL4A3BP Gene

Gene Families for COL4A3BP Gene

HGNC:
  • PLEKH :Pleckstrin homology (PH) domain containing
  • StARD :StAR-related lipid transfer (START) domain containing

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 :
  • Q9Y5P4
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 --
GO:0016301 kinase activity --
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

Animal Model Products

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for COL4A3BP

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targeting 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
endoplasmic reticulum 5
golgi apparatus 5
cytosol 4
nucleus 4
mitochondrion 2
plasma membrane 1

Gene Ontology (GO) - Cellular Components for COL4A3BP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus --
GO:0005654 nucleoplasm IDA --
GO:0005739 mitochondrion IEA --
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0005794 Golgi apparatus IDA --
genes like me logo Genes that share ontologies with COL4A3BP: view

Pathways for COL4A3BP Gene

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

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:0006665 sphingolipid metabolic process TAS --
genes like me logo Genes that share ontologies with COL4A3BP: view

Compounds for COL4A3BP Gene

(112) HMDB Compounds for COL4A3BP Gene

Compound Synonyms Cas Number PubMed IDs
3-O-Sulfogalactosylceramide (d18:1/12:0)
  • Sulfatide (d18:1/12:0)
852100-88-0
3-O-Sulfogalactosylceramide (d18:1/14:0)
  • Sulfatide (d18:1/14:0)
Not Available
3-O-Sulfogalactosylceramide (d18:1/16:0)
  • Sulfatide (d18:1/16:0)
862509-48-6
3-O-Sulfogalactosylceramide (d18:1/18:0)
  • Sulfatide (d18:1/18:0)
244215-65-4
3-O-Sulfogalactosylceramide (d18:1/18:1(9Z))
  • Sulfatide (d18:1/18:1(9Z))
Not Available

(2) Novoseek inferred chemical compound relationships for COL4A3BP Gene

Compound -log(P) Hits PubMed IDs
threonine 47.3 2
serine 34.1 3
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:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for COL4A3BP

Primer Products

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for COL4A3BP Gene

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 expressions with COL4A3BP: view

In Situ Assay Products

No data available for 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 35
  • 99.87 (n)
  • 100 (a)
COL4A3BP 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia COL4A3BP 35
  • 93.11 (n)
  • 97.76 (a)
COL4A3BP 36
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia COL4A3BP 35
  • 92.97 (n)
  • 96.44 (a)
COL4A3BP 36
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Col4a3bp 35
  • 90.6 (n)
  • 96.63 (a)
Col4a3bp 16
Col4a3bp 36
  • 97 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia COL4A3BP 36
  • 95 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia COL4A3BP 36
  • 95 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Col4a3bp 35
  • 90.44 (n)
  • 96.31 (a)
chicken
(Gallus gallus)
Aves COL4A3BP 35
  • 86.49 (n)
  • 95.83 (a)
COL4A3BP 36
  • 90 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia COL4A3BP 36
  • 95 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.12848 35
tropical clawed frog
(Silurana tropicalis)
Amphibia col4a3bp 35
  • 78.82 (n)
  • 88.98 (a)
col4a3bp-prov 35
zebrafish
(Danio rerio)
Actinopterygii COL4A3BP (2 of 2) 36
  • 85 (a)
OneToMany
col4a3bpa 36
  • 77 (a)
OneToMany
Dr.16824 35
LOC797430 35
  • 73.08 (n)
  • 85.07 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007093 35
  • 51.95 (n)
  • 48.69 (a)
fruit fly
(Drosophila melanogaster)
Insecta cert 35
  • 51.6 (n)
  • 47.47 (a)
cert 36
  • 46 (a)
OneToMany
BcDNA:GH07688 37
  • 43 (a)
worm
(Caenorhabditis elegans)
Secernentea F25H2.6 35
  • 47.47 (n)
  • 33.27 (a)
F25H2.6 36
  • 31 (a)
OneToMany
F25H2.6 37
  • 38 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.1898 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 48 (a)
OneToOne
Species with no ortholog for COL4A3BP:
  • 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 MAF
rs698912 -- 75,385,948(+) CAGAC(C/T)TCATG reference, synonymous-codon
rs2548490 -- 75,389,110(-) ACACA(A/T)GGACA intron-variant
rs2591680 -- 75,389,160(-) CTTTA(A/T)TTGAT intron-variant
rs2591880 -- 75,389,128(+) TGTAA(A/C)CAAGA intron-variant
rs2739105 -- 75,389,131(-) TAATC(C/T)TGTTT intron-variant

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

Variant ID Type Subtype PubMed ID
nsv882192 CNV Loss 21882294
dgv6183n71 CNV Loss 21882294
nsv329892 CNV Loss 16902084
esv2621701 CNV Deletion 19546169
dgv6184n71 CNV Loss 21882294
esv2678661 CNV Deletion 23128226
esv2730313 CNV Deletion 23290073
esv2730314 CNV Deletion 23290073
nsv882200 CNV Loss 21882294
nsv882201 CNV Loss 21882294
nsv329298 CNV Insertion 16902084
esv1293475 CNV Insertion 17803354
esv1729448 CNV Insertion 17803354

Relevant External Links for COL4A3BP Gene

HapMap Linkage Disequilibrium report
COL4A3BP
Human Gene Mutation Database (HGMD)
COL4A3BP

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

Disorders for COL4A3BP Gene

MalaCards: The human disease database

MalaCards: The human disease database. (2) Diseases for COL4A3BP Gene including...

Search for COL4A3BP Gene in MalaCards »

(1) University of Copenhagen DISEASES for COL4A3BP Gene

(2) Novoseek inferred disease relationships for COL4A3BP Gene

Disease -log(P) Hits PubMed IDs
autoimmune response 67.5 3
autoimmunity 38.1 1

Relevant External Links for COL4A3BP

Genetic Association Database (GAD)
COL4A3BP
genes like me logo Genes that share disorders with COL4A3BP: view

No data available for UniProtKB/Swiss-Prot 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 23
  2. 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 23
  3. Molecular machinery for non-vesicular trafficking of ceramide. (PMID: 14685229) Hanada K. … Nishijima M. (Nature 2003) 3 4 23
  4. A human-specific TNF-responsive promoter for Goodpasture antigen-binding protein. (PMID: 16218959) Granero F. … Saus J. (FEBS J. 2005) 3 23
  5. Increased Goodpasture antigen-binding protein expression induces type IV collagen disorganization and deposit of immunoglobulin A in glomerular basement membrane. (PMID: 17916599) Revert F. … Saus J. (Am. J. Pathol. 2007) 3 23

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