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FLASH GENE
Symbol COL4A3BP contributors: mct/npt/pgu - updated : 08-03-2017
HGNC name collagen, type IV, alpha 3 (Goodpasture antigen) binding protein
HGNC id 2205
Corresponding disease
MRD34 mental retardation, autosomal dominant 34
Location 5q13.3      Physical location : 74.666.928 - 74.807.806
Synonym name
  • START domain containing 11
  • goodpasture antigen-binding protein
  • lipid-transfer protein CERTL
  • ceramide transport protein
  • StAR-related lipid transfer (START) domain containing 11
  • Synonym symbol(s) GPABP, STARD11, CERT, CERTL, GPBP, GPBP-1
    EC.number 2.7.11.1
    DNA
    TYPE functioning gene
    STRUCTURE 140.88 kb     19 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Physical map
    LOC389301 5 similar to nonhistone chromosomal protein HMG-17 - rat LOC389302 5 LOC389302 FOXD1 5q12-q13 forkhead box D1 BTF3 5p13.2 basic transcription factor 3 LOC220793 5q13.3 similar to hepatitis C virus core-binding protein 6; cervical cancer oncogene 3 ANKRA2 5q12-q13 ankyrin repeat, family A (RFXANK-like), 2 FLJ12787 5q13.3 hypothetical protein FLJ12787 PRO1942 5q13.3 hypothetical protein PRO1942 RGNEF 5q13.3 Rho-guanine nucleotide exchange factor ENC1 5q12-q13.3 ectodermal-neural cortex (with BTB-like domain) HEXB 5q12 hexosaminidase B (beta polypeptide) EFG2 5q13 hexosaminidase B (beta polypeptide) TINP1 5q13.3 TGF beta-inducible nuclear protein 1 KIAA0888 5q13.3 KIAA0888 protein LOC260421 5q13 actin related protein 2/3 complex subunit 1A pseudogene LOC389303 5 hypothetical gene supported by BC039003 LOC391796 5 similar to hypothetical protein FLJ10891 C2GNT3 5q12 similar to hypothetical protein FLJ10891 FLJ40191 5q13.3 hypothetical protein FLJ40191 HMGCR 5q13.3-q14 3-hydroxy-3-methylglutaryl-Coenzyme A reductase COL4A3BP 5q13.1 collagen, type IV, alpha 3 (Goodpasture antigen) binding protein POLK 5q13 polymerase (DNA directed) kappa LOC391797 5 similar to hypothetical protein LOC348094 FLJ35779 5q13.3 hypothetical protein FLJ35779 LOC389304 5 hypothetical gene supported by AK125735 LOC391798 5 similar to importin alpha 1b LOC134356 5q13.3 similar to breast cancer associated protein BRAP1; bridging integrator-2 LOC134357 5q13.3 similar to mitochondrial aconitase LOC391799 5 similar to spermine synthase; spermidine aminopropyltransferase SV2C 5q13.3-q14.1 similar to spermine synthase; spermidine aminopropyltransferase LOC391800 5 similar to U1 snRNP-specific protein C IQGAP2 5q13.3 IQ motif containing GTPase activating protein 2 F2RL2 5q13 coagulation factor II (thrombin) receptor-like 2 F2R 5q13 coagulation factor II (thrombin) receptor F2RL1 5q13 coagulation factor II (thrombin) receptor-like 1 S100Z 5q14.1 S100Z protein CRHBP 5q11.2-q13.3 corticotropin releasing hormone binding protein HSU84971 5q14.1 vasculogenesis gene on 5q ZBED3 5q13.2 zinc finger, BED domain containing 3 LOC285711 5q14.1 hypothetical LOC285711 PDE8B 5q13.2 phosphodiesterase 8B ATQL1 5q14 antiquitin-like 1
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    17 splicing 5395 77 624 - 2011 21832087
  • GPBP1
  • secreted in a soluble form
  • involved in regulating folding and assembly of glomerular basement membrane collagen in the secretory and extracellular compartments
  • myoblast differentiation induces GPBP1 to accumulate in the cytoplasm and to form aggregates with FILIP1L
  • 18 splicing 5317 68 598 localizes in the cytosol 2011 21832087
  • GPBP-2
  • lacking one exon
  • lacks the 26-residue serine-rich region encoded by exon 11 due to alternative exon splicing
  • serves potentially as a ceramide transporter between the endoplasmic reticulum (ER) and the Golgi apparatus for regulation of protein secretion
  • 19 - 5494 91 752 - 2011 21832087
  • GPBP-3
  • longer splicing isoform CERTL known to interact with extracellular matrix components, such as type IV collagen, and with the innate immune protein serum amyloid P
  • associated with cellular membranes
  • EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveliver   lowly
    Endocrinepancreas   moderately
    Nervousbrain   moderately
    Respiratorylung   lowly
    Urinarykidney   moderately
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumcardiac predominantly Homo sapiens
    Muscularstriatumskeletal predominantly Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period pregnancy
    Text placenta
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a N terminal pleckstrin homology domain, a phosphoinositide-binding pleckstrin homology (PH) domain for Golgi-targeting , and basic groove in the PH domain plays a critical role in the Golgi recognition
  • a short peptide motif named FFAT, which associates with the ER-resident membrane protein VAPA, VAPB
  • a serine rich motif (variant 1)
  • a C-terminal steroidogenic acute regulatory protein-related lipid transfer (START) domain, and for intermembrane transfer of ceramide , and PH and START domains are both indispensable for the COL4A3BP ceramide transport activity
  • HOMOLOGY
    Homologene
    FAMILY
    CATEGORY immunity/defense
    SUBCELLULAR LOCALIZATION extracellular
        intracellular
    intracellular,cytoplasm,organelle,mitochondria
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,cytoplasm,organelle,Golgi
    intracellular,cytoplasm,cytosolic
    intracellular,nucleus,nucleoplasm
    text
  • is found in plasma and in the extracellular matrix
  • basic FUNCTION
  • protein serine/threonine kinase II
  • phosphorylating the Goodpasture antigen (COL4A3)
  • mediating nonvesicular transfer of ceramide from the endoplasmic reticulum to the Golgi complex
  • critical role for protein kinase D activation and protein kinase D-dependent protein cargo transport to the plasma membrane
  • cooperative control of its functionally distinct domains is a novel molecular event to regulate the intracellular trafficking of ceramide
  • may serves as transporter of ceramide between the endoplasmic reticulum and the Golgi apparatus
  • implicated in a multicompartmental program for protein secretion including phosphorylation and regulation of protein molecular/supramolecular organization and interorganelle ceramide trafficking and regulation of protein cargo transport to the plasma membrane
  • plays an important role in central nervous system neuron function
  • orchestrate a biological program that regulates protein folding and secretion
  • is responsible for the non-vesicular trafficking of ceramide between the endoplasmic reticulum and Golgi
  • exportable non-conventional Ser/Thr kinase that regulating glomerular basement membrane collagen organization
  • directs myofibril formation, an observation that expands its reported role in supramolecular organization of structural proteins to the intracellular compartment
  • it is likely that during cellular stress, disassembly of Golgi structure together with inactivation of COL4A3BP by caspases causes a reduction in ceramide trafficking and SM (sphingomyelin) synthesis, and could contribute to the cellular response to pro-apoptotic stress
  • contribute to deterioration of mitochondrial structure and function in aging oocytes
  • role of COL4A3BP in innate immunity, especially in the clearance of apoptotic cells
  • mediates the inter-organelle transport of ceramide for the synthesis of sphingomyelin, presumably through endoplasmic reticulum (ER)-Golgi membrane contact sites
  • transfers ceramide from the endoplasmic reticulum (ER) to the Golgi complex
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS immunity/defense
    text autoimmune response
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • binding the C terminal, non collagenous region of COL4A3
  • cholesterol, 25-hydroxycholesterol, phosphatidylcholine, phosphatidylethanolamine and ceramides are ligands for STAR/STARD3/STARD5, STARD5, PCTP/STARD10, STARD10 and COL4A3BP, respectively
  • targets FILIP1L, which binds to myosin and promotes its myofibrillar assembly
  • is a nonconventional Ser/Thr kinase for basement membrane type IV collagen
  • COL4A3BP specifically binds APCS in its physiological conformations, pentamers and decamers, and START domain in COL4A3BP is important for this interaction
  • VAPA, VAPB are endoplasmic reticulum (ER)-resident integral membrane protein that controls a nonvesicular mode of ceramide and cholesterol transfer from the ER to the Golgi complex by interacting with COL4A3BP and oxysterol-binding protein (OSBP), respectively
  • cell & other
    REGULATION
    Other phosphorylation of COL4A3BP at the FFAT motif-adjacent serine affected its affinity for VAPA, VAPB, which may regulate the inter-organelle trafficking of ceramide in response to the perturbation of cellular sphingomyelin and/or other sphingolipids
    ASSOCIATED DISORDERS
    corresponding disease(s) MRD34
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional       loss of function
    can attenuate a key metabolic protective mechanism against ceramide-induced apoptosis in keratinocytes
    constitutional       loss of function
    compromises organelle function and leads to senescence in primary cells
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Cert deficient embryos die from cardiac failure due to defective organogenesis, but not due to ceramide induced apoptotic or necrotic cell death