Human Gene MCTP1 (ENST00000312216.12) from GENCODE V44
  Description: Binds calcium via the C2 domains in absence of phospholipids. (from UniProt Q6DN14)
Gencode Transcript: ENST00000312216.12
Gencode Gene: ENSG00000175471.20
Transcript (Including UTRs)
   Position: hg38 chr5:94,707,496-95,081,482 Size: 373,987 Total Exon Count: 23 Strand: -
Coding Region
   Position: hg38 chr5:94,707,496-95,081,482 Size: 373,987 Coding Exon Count: 23 

Page IndexSequence and LinksUniProtKB CommentsPrimersCTDRNA-Seq Expression
Microarray ExpressionProtein StructureOther SpeciesGO AnnotationsmRNA DescriptionsOther Names
Methods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr5:94,707,496-95,081,482)mRNA (may differ from genome)Protein (778 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblExonPrimerGencodeGeneCardsHGNC
HPRDLynxMGIneXtProtPubMedUniProtKB

-  Comments and Description Text from UniProtKB
  ID: MCTP1_HUMAN
DESCRIPTION: RecName: Full=Multiple C2 and transmembrane domain-containing protein 1;
COFACTOR: Binds calcium via the C2 domains in absence of phospholipids.
SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein (Potential).
SIMILARITY: Belongs to the MCTP family.
SIMILARITY: Contains 3 C2 domains.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
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


-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 6.29 RPKM in Brain - Cerebellar Hemisphere
Total median expression: 87.21 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.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR000008 - C2_Ca-dep
IPR008973 - C2_Ca/lipid-bd_dom_CaLB
IPR020477 - C2_dom
IPR018029 - C2_membr_targeting
IPR013583 - PRibTrfase_C

Pfam Domains:
PF00168 - C2 domain
PF08372 - Plant phosphoribosyltransferase C-terminal

ModBase Predicted Comparative 3D Structure on Q6DN14
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  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 orthologGenome Browser
Gene Details    Gene Details
Gene Sorter    Gene Sorter
MGI    SGD
Protein SequenceProtein Sequence   Protein Sequence
AlignmentAlignment   Alignment

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005509 calcium ion binding
GO:0005544 calcium-dependent phospholipid binding

Biological Process:
GO:0019722 calcium-mediated signaling
GO:0030336 negative regulation of cell migration
GO:0045806 negative regulation of endocytosis
GO:0046928 regulation of neurotransmitter secretion
GO:0048168 regulation of neuronal synaptic plasticity
GO:1902883 negative regulation of response to oxidative stress

Cellular Component:
GO:0005768 endosome
GO:0005783 endoplasmic reticulum
GO:0005789 endoplasmic reticulum membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0030054 cell junction
GO:0030672 synaptic vesicle membrane
GO:0031410 cytoplasmic vesicle
GO:0045202 synapse
GO:0055037 recycling endosome


-  Descriptions from all associated GenBank mRNAs
  AK025997 - Homo sapiens cDNA: FLJ22344 fis, clone HRC06080.
AK058012 - Homo sapiens cDNA FLJ25283 fis, clone STM06716.
AK091330 - Homo sapiens cDNA FLJ34011 fis, clone FCBBF2001868, weakly similar to RABPHILIN-3A.
AX746916 - Sequence 441 from Patent EP1308459.
AK057694 - Homo sapiens cDNA FLJ33132 fis, clone UMVEN2000133, weakly similar to RABPHILIN-3A.
AY656716 - Homo sapiens MCTP1S mRNA, complete cds.
AY656715 - Homo sapiens MCTP1L mRNA, complete cds.
BC030005 - Homo sapiens multiple C2 domains, transmembrane 1, mRNA (cDNA clone MGC:16292 IMAGE:3834212), complete cds.
KJ903220 - Synthetic construct Homo sapiens clone ccsbBroadEn_12614 MCTP1 gene, encodes complete protein.
AK297325 - Homo sapiens cDNA FLJ54825 complete cds, highly similar to Mus musculus multiple C2 domains, transmembrane 1 (Mctp1), mRNA.
AK097929 - Homo sapiens cDNA FLJ40610 fis, clone THYMU2012574.

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000312216.1, ENST00000312216.10, ENST00000312216.11, ENST00000312216.2, ENST00000312216.3, ENST00000312216.4, ENST00000312216.5, ENST00000312216.6, ENST00000312216.7, ENST00000312216.8, ENST00000312216.9, MCTP1_HUMAN, NM_001393540, Q6DN13, Q6DN14, Q8N2W1, Q8NBA2, Q96LX0, Q9H6E8, uc003kkv.1, uc003kkv.2, uc003kkv.3, uc003kkv.4
UCSC ID: ENST00000312216.12
RefSeq Accession: NM_001002796
Protein: Q6DN14 (aka MCTP1_HUMAN)
CCDS: CCDS47247.1

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