Human Gene CERT1 (ENST00000645483.1) from GENCODE V44
  Description: Homo sapiens ceramide transporter 1 (CERT1), transcript variant 2, mRNA. (from RefSeq NM_031361)
RefSeq Summary (NM_031361): 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].
Gencode Transcript: ENST00000645483.1
Gencode Gene: ENSG00000113163.19
Transcript (Including UTRs)
   Position: hg38 chr5:75,373,270-75,511,633 Size: 138,364 Total Exon Count: 17 Strand: -
Coding Region
   Position: hg38 chr5:75,379,346-75,511,207 Size: 131,862 Coding Exon Count: 16 

Page IndexSequence and LinksUniProtKB CommentsPrimersRNA-Seq ExpressionMicroarray Expression
RNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA DescriptionsPathways
Other NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr5:75,373,270-75,511,633)mRNA (may differ from genome)Protein (598 aa)
Gene SorterGenome BrowserOther Species FASTATable SchemaAlphaFoldBioGPS
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MGIneXtProtOMIMPubMedReactomeUniProtKB
BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: C43BP_HUMAN
DESCRIPTION: RecName: Full=Collagen type IV alpha-3-binding protein; AltName: Full=Ceramide transfer protein; Short=hCERT; AltName: Full=Goodpasture antigen-binding protein; Short=GPBP; AltName: Full=START domain-containing protein 11; Short=StARD11; AltName: Full=StAR-related lipid transfer protein 11;
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.
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.
TISSUE SPECIFICITY: Widely expressed.
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.
PTM: 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.
SIMILARITY: Contains 1 PH domain.
SIMILARITY: Contains 1 START domain.
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).

-  Primer design for this transcript
 

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Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 15.96 RPKM in Testis
Total median expression: 483.55 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -189.10426-0.444 Picture PostScript Text
3' UTR -228.00931-0.245 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR011993 - PH_like_dom
IPR001849 - Pleckstrin_homology
IPR023393 - START-like_dom
IPR002913 - START_lipid-bd

Pfam Domains:
PF00169 - PH domain
PF01852 - START domain

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2E3M - X-ray MuPIT 2E3N - X-ray MuPIT 2E3O - X-ray MuPIT 2E3P - X-ray MuPIT 2E3Q - X-ray MuPIT 2E3R - X-ray MuPIT 2E3S - X-ray MuPIT 2RSG - NMR MuPIT 2Z9Y - X-ray MuPIT 2Z9Z - X-ray MuPIT 3H3Q - X-ray MuPIT 3H3R - X-ray MuPIT 3H3S - X-ray MuPIT 3H3T - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q9Y5P4
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0008289 lipid binding
GO:0070273 phosphatidylinositol-4-phosphate binding
GO:0097001 ceramide binding

Biological Process:
GO:0006869 lipid transport
GO:0006955 immune response
GO:0030148 sphingolipid biosynthetic process
GO:0035621 ER to Golgi ceramide transport

Cellular Component:
GO:0005622 intracellular
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0005783 endoplasmic reticulum
GO:0005789 endoplasmic reticulum membrane
GO:0005794 Golgi apparatus
GO:0005829 cytosol
GO:0048471 perinuclear region of cytoplasm


-  Descriptions from all associated GenBank mRNAs
  LF384949 - JP 2014500723-A/192452: Polycomb-Associated Non-Coding RNAs.
MA620526 - JP 2018138019-A/192452: Polycomb-Associated Non-Coding RNAs.
AK091851 - Homo sapiens cDNA FLJ34532 fis, clone HLUNG2008235, highly similar to Homo sapiens goodpasture antigen-binding protein (COL4A3BP) mRNA.
AK292087 - Homo sapiens cDNA FLJ77923 complete cds, highly similar to Homo sapiens collagen, type IV, alpha 3 (Goodpasture antigen) binding protein (COL4A3BP), transcript variant 2, mRNA.
AX747221 - Sequence 746 from Patent EP1308459.
AK096854 - Homo sapiens cDNA FLJ39535 fis, clone PUAEN2005502, highly similar to Goodpasture antigen-binding protein (EC 2.7.11.9).
BC000102 - Homo sapiens collagen, type IV, alpha 3 (Goodpasture antigen) binding protein, mRNA (cDNA clone MGC:1410 IMAGE:3505746), complete cds.
AF136450 - Homo sapiens goodpasture antigen-binding protein (COL4A3BP) mRNA, complete cds.
AY453385 - Homo sapiens lipid-transfer protein CERT mRNA, complete cds, alternatively spliced.
AY453386 - Homo sapiens lipid-transfer protein CERTL mRNA, complete cds, alternatively spliced.
AF232930 - Homo sapiens Goodpasture antigen-binding protein D26 (COL4A3BP) mRNA, complete cds.
KJ892913 - Synthetic construct Homo sapiens clone ccsbBroadEn_02307 COL4A3BP gene, encodes complete protein.
KJ905386 - Synthetic construct Homo sapiens clone ccsbBroadEn_14952 COL4A3BP gene, encodes complete protein.
AB527404 - Synthetic construct DNA, clone: pF1KB3044, Homo sapiens COL4A3BP gene for collagen, type IV, alpha 3 (Goodpasture antigen) binding protein, without stop codon, in Flexi system.
CU674036 - Synthetic construct Homo sapiens gateway clone IMAGE:100017731 5' read COL4A3BP mRNA.
AK000604 - Homo sapiens cDNA FLJ20597 fis, clone KAT07980, highly similar to AF136450 Homo sapiens goodpasture antigen-binding protein.
JD407865 - Sequence 388889 from Patent EP1572962.
JD542139 - Sequence 523163 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q9Y5P4 (Reactome details) participates in the following event(s):

R-HSA-429732 multiphospho-CERT + PPM1L:VAPA/B => multiphospho-CERT:PPM1L:VAPA/B
R-HSA-429714 monophospho-CERT + 2 ATP => multiphospho-CERT + 2 ADP
R-HSA-429698 PRKD1,2,3 phosphorylates COL4A3BP-2
R-HSA-429694 CERT:PPM1L:VAPA/B [ER] => CERT [cytosol] + PPM1L:VAPA/B [ER]
R-HSA-429699 CERT [ER] + ceramide [ER] => CERT:ceramide [ER]
R-HSA-429683 CERT:ceramide [ER] => ceramide [Golgi] + CERT [ER]
R-HSA-429730 multiphospho-CERT:PPM1L:VAPA/B + 3 H2O => CERT:PPM1L:VAPA/B + 3 orthophosphate
R-HSA-1660661 Sphingolipid de novo biosynthesis
R-HSA-428157 Sphingolipid metabolism
R-HSA-556833 Metabolism of lipids
R-HSA-1430728 Metabolism

-  Other Names for This Gene
  Alternate Gene Symbols: A8K7S2, B3KUB7, C43BP_HUMAN, CERT, COL4A3BP, NM_031361, Q53YV1, Q53YV2, Q96Q85, Q96Q88, Q9H2S7, Q9H2S8, Q9Y5P4, STARD11, uc003kds.1, uc003kds.2, uc003kds.3, uc003kds.4, uc003kds.5
UCSC ID: ENST00000645483.1
RefSeq Accession: NM_031361
Protein: Q9Y5P4 (aka C43BP_HUMAN or C43B_HUMAN)
CCDS: CCDS4028.1, CCDS4029.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.