Aliases for MCTP1 Gene

Aliases for MCTP1 Gene

  • Multiple C2 And Transmembrane Domain Containing 1 2 3 5
  • Multiple C2 And Transmembrane Domain-Containing Protein 1 3 4
  • Multiple C2 Domains, Transmembrane 1 2 3
  • Multiple C2-Domains With Two Transmembrane Regions 1 3
  • FLJ22344 2
  • MCTP1 5

External Ids for MCTP1 Gene

Previous GeneCards Identifiers for MCTP1 Gene

  • GC05M094068
  • GC05M089215

Summaries for MCTP1 Gene

GeneCards Summary for MCTP1 Gene

MCTP1 (Multiple C2 And Transmembrane Domain Containing 1) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include calcium ion binding and calcium-dependent phospholipid binding. An important paralog of this gene is MCTP2.

UniProtKB/Swiss-Prot Summary for MCTP1 Gene

  • Calcium sensor which is essential for the stabilization of normal baseline neurotransmitter release and for the induction and long-term maintenance of presynaptic homeostatic plasticity.

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MCTP1 Gene

Genomics for MCTP1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for MCTP1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH05J095283 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 600.7 +0.1 74 2.6 CTCF PRDM10 ZNF692 PRDM1 ZIC2 PATZ1 ZNF501 ZNF239 ZNF600 ZNF341 MCTP1 RF00951-125 lnc-FAM81B-4 RF00017-4797 KIAA0825
GH05J095078 Promoter/Enhancer 1.5 EPDnew Ensembl ENCODE 619.5 +203.2 203168 6.8 POLR2A BACH1 RELA TCF12 IKZF2 CEBPA SCRT2 CEBPB ARID3A SP1 MCTP1 MCTP1-AS1 LOC105379085 RF00994-848 lnc-TTC37-4 KIAA0825
GH05J095027 Enhancer 1 FANTOM5 Ensembl ENCODE 13.5 +254.6 254574 7.6 CREB1 BACH1 DPF2 RELB RUNX3 GATAD2B NFE2 BCL11A ELF1 IKZF1 MCTP1 MCTP1-AS1 RF00994-848 LOC105379085 lnc-TTC37-4 KIAA0825
GH05J095261 Enhancer 1 Ensembl ENCODE 12.1 +22.4 22402 2.7 GATAD2A CTCF TFE3 RCOR2 RXRB RAD21 IRF2 SP1 TRIM22 GABPA MCTP1 MCTP1-AS1 lnc-FAM81B-4 RF00017-4797 KIAA0825
GH05J095086 Enhancer 0.6 ENCODE 20 +197.4 197359 0.6 IKZF2 RCOR1 SIN3A RELB ELF1 IKZF1 ZNF207 CHD1 TBP TBX21 MCTP1 MCTP1-AS1 LOC105379085 RF00994-848 lnc-TTC37-4 KIAA0825
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MCTP1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MCTP1

Top Transcription factor binding sites by QIAGEN in the MCTP1 gene promoter:
  • COMP1
  • HEN1
  • MyoD
  • Nkx2-5
  • Pax-5
  • POU3F2
  • POU3F2 (N-Oct-5a)
  • POU3F2 (N-Oct-5b)

Genomic Locations for MCTP1 Gene

Genomic Locations for MCTP1 Gene
chr5:94,703,690-95,284,575
(GRCh38/hg38)
Size:
580,886 bases
Orientation:
Minus strand
chr5:94,039,446-94,620,279
(GRCh37/hg19)
Size:
580,834 bases
Orientation:
Minus strand

Genomic View for MCTP1 Gene

Genes around MCTP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MCTP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MCTP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MCTP1 Gene

Proteins for MCTP1 Gene

  • Protein details for MCTP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6DN14-MCTP1_HUMAN
    Recommended name:
    Multiple C2 and transmembrane domain-containing protein 1
    Protein Accession:
    Q6DN14
    Secondary Accessions:
    • Q6DN13
    • Q8N2W1
    • Q8NBA2
    • Q96LX0
    • Q9H6E8

    Protein attributes for MCTP1 Gene

    Size:
    999 amino acids
    Molecular mass:
    111624 Da
    Cofactor:
    Name=Ca(2+); Xref=ChEBI:CHEBI:29108;
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for MCTP1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MCTP1 Gene

Post-translational modifications for MCTP1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for MCTP1 Gene

Domains & Families for MCTP1 Gene

Gene Families for MCTP1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for MCTP1 Gene

InterPro:
Blocks:
  • C2 domain
ProtoNet:

Suggested Antigen Peptide Sequences for MCTP1 Gene

GenScript: Design optimal peptide antigens:
  • Multiple C2 and transmembrane domain-containing protein 1 (MCTP1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q6DN14

UniProtKB/Swiss-Prot:

MCTP1_HUMAN :
  • Belongs to the MCTP family.
Family:
  • Belongs to the MCTP family.
genes like me logo Genes that share domains with MCTP1: view

Function for MCTP1 Gene

Molecular function for MCTP1 Gene

UniProtKB/Swiss-Prot Function:
Calcium sensor which is essential for the stabilization of normal baseline neurotransmitter release and for the induction and long-term maintenance of presynaptic homeostatic plasticity.

Phenotypes From GWAS Catalog for MCTP1 Gene

Gene Ontology (GO) - Molecular Function for MCTP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 calcium ion binding IDA 15528213
GO:0005544 NOT calcium-dependent phospholipid binding IDA 15528213
genes like me logo Genes that share ontologies with MCTP1: view
genes like me logo Genes that share phenotypes with MCTP1: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MCTP1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for MCTP1 Gene

Localization for MCTP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MCTP1 Gene

Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane. Multi-pass membrane protein. Recycling endosome. Endoplasmic reticulum membrane.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MCTP1 gene
Compartment Confidence
endoplasmic reticulum 4
endosome 4
plasma membrane 3
cytosol 2
cytoskeleton 1
mitochondrion 1
nucleus 1
golgi apparatus 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for MCTP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005768 endosome IEA --
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane ISS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IDA 15528213
genes like me logo Genes that share ontologies with MCTP1: view

Pathways & Interactions for MCTP1 Gene

PathCards logo

SuperPathways for MCTP1 Gene

No Data Available

Interacting Proteins for MCTP1 Gene

STRING Interaction Network Preview (showing top 2 STRING interactants - click image to see details)
STRING Interaction Network
Selected Interacting proteins: ENSP00000424126 Q6DN14-MCTP1_HUMAN for MCTP1 Gene via STRING IID

Gene Ontology (GO) - Biological Process for MCTP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0019722 calcium-mediated signaling NAS 15528213
GO:0030336 negative regulation of cell migration ISS --
GO:0045806 negative regulation of endocytosis ISS --
GO:0046928 regulation of neurotransmitter secretion ISS --
GO:0048168 regulation of neuronal synaptic plasticity ISS --
genes like me logo Genes that share ontologies with MCTP1: view

No data available for Pathways by source and SIGNOR curated interactions for MCTP1 Gene

Drugs & Compounds for MCTP1 Gene

(1) Drugs for MCTP1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Calcium Nutra 6556
genes like me logo Genes that share compounds with MCTP1: view

Transcripts for MCTP1 Gene

mRNA/cDNA for MCTP1 Gene

3 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
18 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MCTP1

Alternative Splicing Database (ASD) splice patterns (SP) for MCTP1 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20a · 20b ^ 21 ^ 22a · 22b ^ 23a ·
SP1: - - - -
SP2: - -
SP3:
SP4:

ExUns: 23b
SP1:
SP2:
SP3:
SP4:

Relevant External Links for MCTP1 Gene

GeneLoc Exon Structure for
MCTP1

Expression for MCTP1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MCTP1 Gene

mRNA differential expression in normal tissues according to GTEx for MCTP1 Gene

This gene is overexpressed in Brain - Caudate (basal ganglia) (x4.1).

Protein differential expression in normal tissues from HIPED for MCTP1 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (42.6) and Frontal cortex (24.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for MCTP1 Gene



Protein tissue co-expression partners for MCTP1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MCTP1

SOURCE GeneReport for Unigene cluster for MCTP1 Gene:

Hs.655087

Evidence on tissue expression from TISSUES for MCTP1 Gene

  • Nervous system(4.5)
genes like me logo Genes that share expression patterns with MCTP1: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for MCTP1 Gene

Orthologs for MCTP1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for MCTP1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia MCTP1 30 31
  • 99.5 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia LOC100298968 30
  • 95.99 (n)
MCTP1 31
  • 88 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia MCTP1 30 31
  • 94.59 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 94 (a)
OneToMany
-- 31
  • 86 (a)
OneToMany
Oppossum
(Monodelphis domestica)
Mammalia MCTP1 31
  • 93 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Mctp1 30 17 31
  • 91.07 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Mctp1 30
  • 89.01 (n)
Chicken
(Gallus gallus)
Aves MCTP1 30 31
  • 80.86 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia MCTP1 31
  • 86 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia mctp1 30
  • 77.06 (n)
Zebrafish
(Danio rerio)
Actinopterygii MCTP1 (2 of 2) 31
  • 77 (a)
OneToMany
LOC100334264 30
  • 66.95 (n)
mctp1b 31
  • 62 (a)
OneToMany
Fruit Fly
(Drosophila melanogaster)
Insecta Mctp 30 31
  • 51.77 (n)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007646 30
  • 51.48 (n)
Worm
(Caenorhabditis elegans)
Secernentea D2092.1 30 31
  • 50.05 (n)
OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes TCB1 33
Thale Cress
(Arabidopsis thaliana)
eudicotyledons AT3G61300 30
  • 41.75 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.9926 31
  • 42 (a)
OneToMany
Species where no ortholog for MCTP1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for MCTP1 Gene

ENSEMBL:
Gene Tree for MCTP1 (if available)
TreeFam:
Gene Tree for MCTP1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MCTP1: view image

Paralogs for MCTP1 Gene

Paralogs for MCTP1 Gene

(2) SIMAP similar genes for MCTP1 Gene using alignment to 9 proteins:

  • MCTP1_HUMAN
  • D6R8Z9_HUMAN
  • D6RA42_HUMAN
  • D6RC97_HUMAN
  • E5RJR1_HUMAN
  • H0Y8M9_HUMAN
  • H0Y9S8_HUMAN
  • H0Y9Y6_HUMAN
  • H0YA70_HUMAN
genes like me logo Genes that share paralogs with MCTP1: view

Variants for MCTP1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MCTP1 Gene

SNP ID Clinical significance and condition Chr 05 pos Variation AA Info Type
716861 Benign: not provided 94,779,158(-) C/T SYNONYMOUS_VARIANT
768020 Benign: not provided 94,888,886(-) G/A SYNONYMOUS_VARIANT
771381 Benign: not provided 94,894,721(-) T/C SYNONYMOUS_VARIANT
rs9885412 - p.Arg612Lys

Additional dbSNP identifiers (rs#s) for MCTP1 Gene

Structural Variations from Database of Genomic Variants (DGV) for MCTP1 Gene

Variant ID Type Subtype PubMed ID
dgv3130n106 CNV deletion 24896259
dgv362e215 CNV deletion 23714750
dgv442n106 CNV deletion 24896259
dgv49n47 CNV gain 21111241
esv1000185 CNV deletion 20482838
esv1002880 CNV insertion 20482838
esv2112000 CNV deletion 18987734
esv2133594 CNV deletion 18987734
esv2515116 CNV deletion 19546169
esv2648135 CNV deletion 19546169
esv2659617 CNV deletion 23128226
esv2677476 CNV deletion 23128226
esv2730475 CNV deletion 23290073
esv2730476 CNV deletion 23290073
esv2730477 CNV deletion 23290073
esv2730478 CNV deletion 23290073
esv2730479 CNV deletion 23290073
esv2736229 CNV deletion 23290073
esv2759354 CNV loss 17122850
esv3546242 CNV deletion 23714750
esv3570255 CNV loss 25503493
esv3570256 CNV loss 25503493
esv3605823 CNV loss 21293372
esv3605824 CNV loss 21293372
esv3605825 CNV loss 21293372
esv3605827 CNV gain 21293372
esv3890672 CNV loss 25118596
esv5176 CNV loss 18987735
esv7072 CNV loss 19470904
esv8917 CNV loss 19470904
nsv1069044 CNV deletion 25765185
nsv1074320 CNV deletion 25765185
nsv1122113 CNV deletion 24896259
nsv1126064 CNV deletion 24896259
nsv1130839 CNV deletion 24896259
nsv1150265 CNV deletion 26484159
nsv1151822 CNV deletion 26484159
nsv1151987 CNV deletion 26484159
nsv24572 CNV deletion 16902084
nsv327439 CNV deletion 16902084
nsv327898 CNV insertion 16902084
nsv329198 CNV deletion 16902084
nsv462254 CNV loss 19166990
nsv478381 CNV novel sequence insertion 20440878
nsv479357 CNV novel sequence insertion 20440878
nsv479722 CNV novel sequence insertion 20440878
nsv480987 CNV novel sequence insertion 20440878
nsv4922 CNV insertion 18451855
nsv509076 CNV insertion 20534489
nsv509981 OTHER sequence alteration 20534489
nsv511111 OTHER complex 20534489
nsv598953 CNV loss 21841781
nsv823144 CNV loss 20364138
nsv830407 CNV gain+loss 17160897
nsv955777 CNV deletion 24416366
nsv956920 CNV deletion 24416366
nsv964907 CNV duplication 23825009

Variation tolerance for MCTP1 Gene

Residual Variation Intolerance Score: 6.02% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.02; 75.00% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MCTP1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MCTP1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MCTP1 Gene

Disorders for MCTP1 Gene

Additional Disease Information for MCTP1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform

No disorders were found for MCTP1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for MCTP1 Gene

Publications for MCTP1 Gene

  1. Evolutionarily conserved multiple C2 domain proteins with two transmembrane regions (MCTPs) and unusual Ca2+ binding properties. (PMID: 15528213) Shin OH … Südhof TC (The Journal of biological chemistry 2005) 2 3 4
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41
  3. Genome-wide association and meta-analysis of bipolar disorder in individuals of European ancestry. (PMID: 19416921) Scott LJ … Boehnke M (Proceedings of the National Academy of Sciences of the United States of America 2009) 3 41
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  5. A genome wide association study of fast beta EEG in families of European ancestry. (PMID: 28040410) Meyers JL … Porjesz B (International journal of psychophysiology : official journal of the International Organization of Psychophysiology 2017) 3

Products for MCTP1 Gene

  • Signalway ELISA kits for MCTP1

Sources for MCTP1 Gene