Homo sapiens Gene: COL4A3BP
Summary
InnateDB Gene IDBG-29012.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol COL4A3BP
Gene Name collagen, type IV, alpha 3 (Goodpasture antigen) binding protein
Synonyms CERT; CERTL; GPBP; STARD11;
Species Homo sapiens
Ensembl Gene ENSG00000113163
Encoded Proteins
collagen, type IV, alpha 3 (Goodpasture antigen) binding protein
collagen, type IV, alpha 3 (Goodpasture antigen) binding protein
collagen, type IV, alpha 3 (Goodpasture antigen) binding protein
collagen, type IV, alpha 3 (Goodpasture antigen) binding protein
collagen, type IV, alpha 3 (Goodpasture antigen) binding protein
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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]
Gene Information
Type Protein coding
Genomic Location Chromosome 5:75368486-75512138
Strand Reverse strand
Band q13.3
Transcripts
ENST00000380494 ENSP00000369862
ENST00000261415 ENSP00000261415
ENST00000357457 ENSP00000350046
ENST00000405807 ENSP00000383996
ENST00000508692
ENST00000508809 ENSP00000424244
ENST00000604926
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 17 experimentally validated interaction(s) in this database.
Experimentally validated
Total 17 [view]
Protein-Protein 17 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0004672 protein kinase activity
GO:0005515 protein binding
GO:0008289 lipid binding
GO:0016301 kinase activity
GO:0035620 ceramide transporter activity
GO:0070273 phosphatidylinositol-4-phosphate binding
GO:0097001 ceramide binding
Biological Process
GO:0000902 cell morphogenesis
GO:0001701 in utero embryonic development
GO:0003007 heart morphogenesis
GO:0006468 protein phosphorylation
GO:0006665 sphingolipid metabolic process
GO:0006672 ceramide metabolic process
GO:0006936 muscle contraction
GO:0006955 immune response
GO:0007029 endoplasmic reticulum organization
GO:0007165 signal transduction
GO:0008283 cell proliferation
GO:0016310 phosphorylation
GO:0030148 sphingolipid biosynthetic process
GO:0034976 response to endoplasmic reticulum stress
GO:0035621 ER to Golgi ceramide transport
GO:0044281 small molecule metabolic process
GO:0055088 lipid homeostasis
GO:0070584 mitochondrion morphogenesis
Cellular Component
GO:0005634 nucleus
GO:0005739 mitochondrion
GO:0005789 endoplasmic reticulum membrane
GO:0005794 Golgi apparatus
GO:0005829 cytosol
GO:0048471 perinuclear region of cytoplasm
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Cross-References
SwissProt Q9Y5P4
TrEMBL
UniProt Splice Variant
Entrez Gene 10087
UniGene Hs.270437
RefSeq NM_005713 XM_006714513 NM_001130105 NM_031361
HUGO HGNC:2205
OMIM 604677
CCDS CCDS4028 CCDS47235 CCDS4029
HPRD 05246
IMGT
EMBL AB036934 AB036936 AC008897 AC112183 AC116341 AF136450 AF232930 AF232935 AK091851 AK096854 AK292087 AY453385 AY453386 BC000102 CH471084
GenPept AAD30288 AAG42046 AAG42051 AAH00102 AAR26717 AAR26718 BAB58974 BAB58977 BAC03762 BAF84776 BAG53379 EAW95757 EAW95760
RNA Seq Atlas 10087