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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

COL4A3BP Gene

protein-coding   GIFtS: 62
GCID: GC05M074664

Collagen, Type IV, Alpha 3 (Goodpasture Antigen) Binding...

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Collagen, Type IV, Alpha 3 (Goodpasture Antigen) Binding Protein1 2     CERTL2
Ceramide Transporter1 2     Collagen Type IV Alpha-3-Binding Protein2
StAR-Related Lipid Transfer (START) Domain Containing 111 2     Lipid-Transfer Protein CERTL2
Ceramide Transfer Protein2 3     StARD113
CERT2 3     Goodpasture Antigen-Binding Protein3
GPBP2 3     StAR-Related Lipid Transfer Protein 113
STARD112 3     START Domain-Containing Protein 113
hCERT2 3     

External Ids:    HGNC: 22051   Entrez Gene: 100872   Ensembl: ENSG000001131637   OMIM: 6046775   UniProtKB: Q9Y5P43   

Export aliases for COL4A3BP gene to outside databases

Previous GC identifers: GC05M073482 GC05M074905 GC05M074703 GC05M074754 GC05M074753 GC05M074705 GC05M069872


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 autosomal recessive alport syndrome, and autosomal dominant alport syndrome, and among its related super-pathways are Sphingolipid metabolism and Metabolic pathways. GO annotations related to this gene include ceramide binding and protein kinase activity. An important paralog of this gene is GLTP.

UniProtKB/Swiss-Prot: C43BP_HUMAN, Q9Y5P4
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 Wiki entry for COL4A3BP Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000005.9  NC_018916.2  NT_006713.15  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the COL4A3BP gene promoter:
         HEN1   AREB6   Sp1   Cdc5   Hlf   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): COL4A3BP promoter sequence
   Search SABiosciences Chromatin IP Primers for COL4A3BP

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat COL4A3BP


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 5q13.3   Ensembl cytogenetic band:  5q13.3   HGNC cytogenetic band: 5q13.3

COL4A3BP Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
COL4A3BP gene location

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05M074664:  view genomic region     (about GC identifiers)

Start:
74,664,311 bp from pter      End:
74,807,963 bp from pter
Size:
143,653 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: C43BP_HUMAN, Q9Y5P4 (See protein sequence)
Recommended Name: Collagen type IV alpha-3-binding protein  
Size: 624 amino acids; 70835 Da
Subunit: Interacts with COL4A3. Interacts with VAPA and VAPB. Interaction with VAPB is less efficient than with
VAPA
Subcellular location: Cytoplasm. Golgi apparatus. Endoplasmic reticulum. Note=Preferentially localized to the
Golgi apparatus
Caution: Was originally (PubMed:10212244) reported to have a protein kinase activity and to phosphorylate on Ser
and Thr residues the Goodpasture autoantigen (in vitro)
6/14 PDB 3D structures from and Proteopedia for COL4A3BP (see all 14):
2E3M (3D)        2E3N (3D)        2E3O (3D)        2E3P (3D)        2E3Q (3D)        2E3R (3D)    
Secondary accessions: A8K7S2 B3KUB7 Q53YV1 Q53YV2 Q96Q85 Q96Q88 Q9H2S7 Q9H2S8
Alternative splicing: 3 isoforms:  Q9Y5P4-1   Q9Y5P4-2   Q9Y5P4-3   

Explore the universe of human proteins at neXtProt for COL4A3BP: NX_Q9Y5P4

Explore proteomics data for COL4A3BP at MOPED 

Post-translational modifications:

  • UniProtKB: 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
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9Y5P4

  • COL4A3BP Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    COL4A3BP Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_001123577.1  NP_005704.1  NP_112729.1  

    ENSEMBL proteins: 
     ENSP00000350046   ENSP00000369862   ENSP00000383996   ENSP00000261415   ENSP00000424244  
    Reactome Protein details: Q9Y5P4
    Human Recombinant Protein Products for COL4A3BP: 
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    Sino Biological Recombinant Protein for COL4A3BP
    Sino Biological Cell Lysate for COL4A3BP 
    ProSpec Recombinant Protein for COL4A3BP
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 5/7 cellular component terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0005739mitochondrion IEA--
    GO:0005789endoplasmic reticulum membrane TAS--
    GO:0005794Golgi apparatus IDA--

    COL4A3BP for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    PLEKH: Pleckstrin homology (PH) domain containing
    StARD: StAR-related lipid transfer (START) domain containing

    4 InterPro protein domains:
     IPR001849 Pleckstrin_homology
     IPR011993 PH_like_dom
     IPR023393 START-like_dom
     IPR002913 START_lipid-bd_dom

    Graphical View of Domain Structure for InterPro Entry Q9Y5P4

    ProtoNet protein and cluster: Q9Y5P4

    2 Blocks protein domains:
    IPB001849 Pleckstrin-like
    IPB002913 Lipid-binding START


    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
    Domain: The PH domain targets the Golgi apparatus
    Domain: The FFAT motif is required for interaction with VAPA and VAPB
    Similarity: Contains 1 PH domain
    Similarity: Contains 1 START domain


    COL4A3BP for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: C43BP_HUMAN, Q9Y5P4
    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): 5/7 molecular function terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004672protein kinase activity TAS10212244
    GO:0005515protein binding IPI10212244
    GO:0005543phospholipid binding ----
    GO:0016301kinase activity ----
    GO:0035620ceramide transporter activity IDA18184806
         
    COL4A3BP for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for COL4A3BP:
     Decreased focal adhesion (FA)   Paclitaxel sensitizing effect 

         9 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Col4a3bp):
     cardiovascular system  cellular  embryogenesis  growth/size  homeostasis/metabolism 
     mortality/aging  muscle  no phenotypic analysis  reproductive system 

    COL4A3BP for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for COL4A3BP 
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for COL4A3BP 
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    hsa-miR-2052 hsa-miR-4307 hsa-miR-429 hsa-miR-15a hsa-miR-30d hsa-miR-218 hsa-miR-29b-1* hsa-miR-105
    Browse SwitchGear 3'UTR luciferase reporter plasmids
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    Clone
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for COL4A3BP About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Sphingolipid metabolism
    Sphingolipid metabolism0.63
    Sphingolipid de novo biosynthesis0.47
    2Metabolism
    Metabolism0.40
    Metabolism of lipids and lipoproteins0.34
    3Golgi to ER Retrograde Transport
    Cholesterol and Sphingolipids transport / Transport from Golgi and ER to the apical membrane (normal and CF)0.31

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 GeneGo (Thomson Reuters) Pathway for COL4A3BP
        Cholesterol and Sphingolipids transport / Transport from Golgi and ER to the apical membrane (normal and CF)


    4        Reactome Pathways for COL4A3BP
        Sphingolipid metabolism
    Metabolism
    Metabolism of lipids and lipoproteins
    Sphingolipid de novo biosynthesis



    COL4A3BP for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for COL4A3BP

    STRING Interaction Network Preview (showing 5 interactants - click image to see 23)

    5/30 Interacting proteins for COL4A3BP (Q9Y5P42, 3 ENSP000003698624) via UniProtKB, MINT, STRING, and/or I2D (see all 30)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ITGB3BPQ133522, 3, ENSP000002710024MINT-67876 I2D: score=5 STRING: ENSP00000271002
    RTN4Q9NQC32, 3, ENSP000003378384MINT-68370 I2D: score=5 STRING: ENSP00000337838
    PARP2Q9UGN52, 3, ENSP000002504164MINT-8201826 I2D: score=1 STRING: ENSP00000250416
    CSNK1G2P783682, 3, ENSP000002556414MINT-67288 I2D: score=5 STRING: ENSP00000255641
    POM121Q96HA12, 3, ENSP000002576224MINT-66052 I2D: score=5 STRING: ENSP00000257622
    About this table

    Gene Ontology (GO): 5/18 biological process terms (GO ID links to tree view) (see all 18):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000902cell morphogenesis IEA--
    GO:0001701in utero embryonic development IEA--
    GO:0003007heart morphogenesis IEA--
    GO:0006468protein phosphorylation TAS10212244
    GO:0006665sphingolipid metabolic process TAS--

    COL4A3BP for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    COL4A3BP for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for COL4A3BP (C43BP)

    10/112 HMDB Compounds for COL4A3BP (see all 112)    About this table
    CompoundSynonyms CAS #PubMed Ids
    3-O-Sulfogalactosylceramide (d18:1/12:0)Sulfatide (d18:1/12:0) (see all 13)852100-88-0--
    3-O-Sulfogalactosylceramide (d18:1/14:0)Sulfatide (d18:1/14:0) (see all 13)----
    3-O-Sulfogalactosylceramide (d18:1/16:0)Sulfatide (d18:1/16:0) (see all 13)862509-48-6--
    3-O-Sulfogalactosylceramide (d18:1/18:0)Sulfatide (d18:1/18:0) (see all 13)244215-65-4--
    3-O-Sulfogalactosylceramide (d18:1/18:1(9Z))Sulfatide (d18:1/18:1(9Z)) (see all 13)----
    3-O-Sulfogalactosylceramide (d18:1/20:0)Sulfatide (d18:1/20:0) (see all 13)265096-81-9--
    3-O-Sulfogalactosylceramide (d18:1/22:0)Sulfatide (d18:1/22:0) (see all 13)265096-83-1--
    3-O-Sulfogalactosylceramide (d18:1/24:0)Sulfatide (d18:1/24:0) (see all 16)151122-71-3--
    3-O-Sulfogalactosylceramide (d18:1/24:1(15Z))Sulfatide (d18:1/24:1(15Z)) (see all 13)151057-28-2--
    3-O-Sulfogalactosylceramide (d18:1/26:1(17Z))Sulfatide (d18:1/26:1(17Z)) (see all 13)928346-40-1--

    2 Novoseek inferred chemical compound relationships for COL4A3BP gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    threonine 47.3 4 16218959 (1), 11007769 (1)
    serine 34.1 5 11007769 (2), 16218959 (1)

    Search CenterWatch for drugs/clinical trials and news about COL4A3BP / C43BP

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    About This Section

    REFSEQ mRNAs for COL4A3BP gene (3 alternative transcripts): 
    NM_001130105.1  NM_005713.2  NM_031361.2  

    Unigene Cluster for COL4A3BP:

    Collagen, type IV, alpha 3 (Goodpasture antigen) binding protein
    Hs.270437  [show with all ESTs]
    Unigene Representative Sequence: NM_001130105
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000357457 ENST00000604926 ENST00000380494(uc003kdt.3) ENST00000405807(uc011csu.2 uc003kds.3 uc003kdu.2)
    ENST00000508692 ENST00000261415 ENST00000508809
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    Additional mRNA sequence: 

    AF136450.1 AF232930.1 AK000604.1 AK091851.1 AK096854.1 AK125387.1 AK292087.1 AY453385.1 
    AY453386.1 BC000102.2 

    14 DOTS entries:

    DT.95076474  DT.91752774  DT.100745279  DT.40125821  DT.455455  DT.86846450  DT.101964839  DT.91752780 
    DT.99941471  DT.91700930  DT.95361013  DT.456059  DT.95076471  DT.95279648 

    24/220 AceView cDNA sequences (see all 220):

    AA291710 AA766163 BQ068905 NM_031361 AA456558 AA158618 AK091851 BU687428 
    AY453385 BX464727 BQ006308 AY453386 BM053160 AK096854 CK905782 AA341565 
    AA507137 BU077437 AA282568 CB177423 BX447425 BQ184642 AI278308 AA125850 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for COL4A3BP    About this scheme

    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:        -                                                                                                                                 


    ECgene alternative splicing isoforms for COL4A3BP

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    COL4A3BP expression in normal human tissues (normalized intensities)      COL4A3BP embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    COL4A3BP Expression
    About this image


    COL4A3BP expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/31 selected tissues (see all 31) fully expand
     
     Epithelium
             vagina ; squamous epithelial cells   
     
     Testis (Reproductive System)    fully expand to see all 4 entries
             Leydig Cells Testis Interstitium
             seminal vesicle ; glandular cells   
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Lung (Respiratory System)    fully expand to see all 3 entries
             lung ; pneumocytes   
     
     Colon (Gastrointestinal Tract)    fully expand to see all 3 entries
             rectum ; glandular cells   

    See COL4A3BP Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for COL4A3BP

    SOURCE GeneReport for Unigene cluster: Hs.270437

    UniProtKB/Swiss-Prot: C43BP_HUMAN, Q9Y5P4
    Tissue specificity: Widely expressed

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for COL4A3BP gene from 7/17 species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Col4a3bp1 , 5 collagen, type IV, alpha 3 (Goodpasture antigen) binding more1, 5 90.6(n)1
    96.63(a)1
      13 (50.58 cM)5
    680181  NM_023420.21  NP_075909.11 
     965427355 
    chicken
    (Gallus gallus)
    Aves COL4A3BP1 collagen, type IV, alpha 3 (Goodpasture antigen) binding more 86.49(n)
    95.83(a)
      427209  XM_424796.3  XP_424796.3 
    lizard
    (Anolis carolinensis)
    Reptilia COL4A3BP6
    Uncharacterized protein
    95(a)
    1 ↔ 1
    2(14779127-14859071)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.128482 Xenopus laevis transcribed sequence with moderate similarity more 77.41(n)    BU913232.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.168242 Transcribed sequence with moderate similarity to protein more 72.38(n)    AL910934.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta BcDNA:GH076883
    cert1
    protein serine/threonine kinase3
    ceramide transfer protein1
    43(a)3
    51.78(n)1
    47.77(a)1
      389281  NM_139942.31  NP_648199.11 
    worm
    (Caenorhabditis elegans)
    Secernentea F25H2.61 , 3 PH domain3
    Protein F25H2.61
    38(a)3
    46.88(n)1
    33.08(a)1
      I(10562690-10565684)3
    1729401  NM_060361.31  NP_492762.11 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for COL4A3BP gene
    GLTP2  PLEKHA32  PLEKHA82  

    COL4A3BP for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/2807 SNPs in COL4A3BP are shown (see all 2807)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0694034
    ----see VAR_0694032 S C mis40--------
    rs1399739171,2
    --69957704(+) AAAAA-/GAAAGG 3 -- int10--------
    rs1822109901,2
    C--69957704(+) AAAAAA/GAAAGG 3 -- int10--------
    rs793422051,2
    F--74670491(+) CTGTTA/CTGTGA 3 -- int11Minor allele frequency- C:0.12WA 118
    rs731188901,2
    C,F--74670551(+) TCGATC/TTCATG 3 -- int12Minor allele frequency- T:0.08WA 120
    rs1995476931,2
    C--74685077(+) AAAAA-/ACAAAA 3 -- int10--------
    rs2004177901,2
    C--74688855(+) AAAAA-/ACAAAA 3 -- int10--------
    rs559407311,2
    C--74696694(+) CATTT-/ATTT  
            
    CAACC
    3 -- int10--------
    rs113494071,2
    C--74700117(+) TTCAT-/AAAAAA 3 -- int1 trp31Minor allele frequency- A:0.00NA 2
    rs616109761,2
    C--74700843(+) AACAA-/CAAAAATT 3 -- cds10--------

    HapMap Linkage Disequilibrium report for COL4A3BP (74664311 - 74807963 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/13 variations for COL4A3BP (see all 13):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2730313CNV Deletion23290073
    esv2621701CNV Deletion19546169
    esv2730314CNV Deletion23290073
    esv2678661CNV Deletion23128226
    esv1293475CNV Insertion17803354
    esv1729448CNV Insertion17803354
    nsv329298CNV Insertion16902084
    nsv329892CNV Loss16902084
    nsv882192CNV Loss21882294
    nsv882201CNV Loss21882294


    Human Gene Mutation Database (HGMD): COL4A3BP
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 604677    OMIM disorders: --

    7 diseases for COL4A3BP:    About MalaCards
    autosomal recessive alport syndrome    autosomal dominant alport syndrome    goodpasture syndrome    alport syndrome
    hepatitis c    hepatitis    breast cancer

    1 disease from the University of Copenhagen DISEASES database for COL4A3BP:
    Goodpasture syndrome

    COL4A3BP for disorders           About GeneDecksing

    2 Novoseek inferred disease relationships for COL4A3BP gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    autoimmune response 67.5 3 17916599 (2), 11007769 (1)
    autoimmunity 38.1 2 16218959 (1)

    Genetic Association Database (GAD): COL4A3BP

    Export disorders for COL4A3BP gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for COL4A3BP gene, integrated from 9 sources (see all 55):
    (articles sorted by number of sources associating them with COL4A3BP)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Characterization of a novel type of serine/threonine kinase that specifically phosphorylates the human goodpasture antigen. (PubMed id 10212244)1, 2, 3, 9 Raya A.... Saus J. (1999)
    2. Goodpasture antigen-binding protein, the kinase that phosphorylates the Goodpasture antigen, is an alternatively spliced variant implicated in autoimmune pathogenesis. (PubMed id 11007769)1, 2, 9 Raya A.... Saus J. (2000)
    3. Molecular machinery for non-vesicular trafficking of ceramide. (PubMed id 14685229)1, 2, 9 Hanada K....Nishijima M. (2003)
    4. Crystal structures of the CERT START domain with inhi bitors provide insights into the mechanism of ceramide transfer. (PubMed id 20036255)1, 2 Kudo N....Kato R. (2010)
    5. Genome-wide association studies in an isolated founde r population from the Pacific Island of Kosrae. (PubMed id 19197348)1, 4 Lowe J.K....Friedman J.M. (2009)
    6. Casein kinase I{gamma}2 down-regulates trafficking of ceramide in the synthesis of sphingomyelin. (PubMed id 19005213)1, 2 Tomishige N....Hanada K. (2009)
    7. Structural basis for specific lipid recognition by CERT responsible for nonvesicular trafficking of ceramide. (PubMed id 18184806)1, 2 Kudo N....Kato R. (2008)
    8. Regulation of secretory transport by protein kinase D-mediated phosphorylation of the ceramide transfer protein. (PubMed id 17591919)1, 2 Fugmann T....Olayioye M.A. (2007)
    9. Efficient trafficking of ceramide from the endoplasmic reticulum to the Golgi apparatus requires a VAMP-associated protein-interacting FFAT motif of CERT. (PubMed id 16895911)1, 2 Kawano M.... Hanada K. (2006)
    10. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 10087 HGNC: 2205 AceView: COL4A3BP Ensembl:ENSG00000113163 euGenes: HUgn10087
    ECgene: COL4A3BP H-InvDB: COL4A3BP

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for COL4A3BP Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for COL4A3BP gene:
    Search GeneIP for patents involving COL4A3BP

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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