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Aliases for MCTP1 Gene

Aliases for MCTP1 Gene

  • Multiple C2 And Transmembrane Domain Containing 1 2 3 5
  • Multiple C2 Domains, Transmembrane 1 2

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 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.

Additional gene information for MCTP1 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MCTP1 Gene

Genomics for MCTP1 Gene

GeneHancer (GH) Regulatory Elements for MCTP1 Gene

Promoters and enhancers for MCTP1 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH05I095078 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE 569.2 +202.7 202704 5.9 SMAD1 BATF IRF4 RAD21 BRCA1 RFX5 SCRT2 RCOR1 ATF7 ETV6 MCTP1 ENSG00000249545 LOC105379085
GH05I095283 Promoter 1.7 EPDnew Ensembl 550.8 +0.2 174 1.2 SIN3A ZNF2 ZNF48 GLIS2 ZNF213 ZNF143 ZNF202 ZNF263 SP3 REST MCTP1 LOC105379085
GH05I095285 Enhancer 0.7 ENCODE 550.8 -0.5 -517 0 CTCF KLF1 ZNF777 SUZ12 KLF17 ZIC2 ZNF335 GLIS2 ZNF213 ZBTB48 MCTP1 FAM81B
GH05I095086 Enhancer 0.9 Ensembl ENCODE 20 +196.9 196928 1.5 PKNOX1 SMAD1 BACH1 EBF1 BMI1 RELA CTBP1 POLR2A NFATC1 ZNF143 MCTP1 ENSG00000249545 LOC105379085
GH05I095177 Enhancer 1 Ensembl ENCODE 11 +106.4 106419 1.6 MZF1 FEZF1 ZNF2 ZNF335 GLIS2 ZNF213 ZSCAN5C KLF7 KLF13 ZNF654 MCTP1 ENSG00000249545 ARSK LOC105379085
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around MCTP1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the MCTP1 gene promoter:

Genomic Locations for MCTP1 Gene

Genomic Locations for MCTP1 Gene
580,886 bases
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:
    Recommended name:
    Multiple C2 and transmembrane domain-containing protein 1
    Protein Accession:
    Secondary Accessions:
    • Q6DN13
    • Q8N2W1
    • Q8NBA2
    • Q96LX0
    • Q9H6E8

    Protein attributes for MCTP1 Gene

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

    Alternative splice isoforms for MCTP1 Gene


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

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

Protein Domains for MCTP1 Gene

Suggested Antigen Peptide Sequences for MCTP1 Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the MCTP 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

Clone Products

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

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 5
endosome 4
plasma membrane 3
cytosol 3
mitochondrion 1
nucleus 1
golgi apparatus 1

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 IBA --
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

SuperPathways for MCTP1 Gene

No Data Available

Interacting Proteins for MCTP1 Gene

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 Approved Nutra 0
genes like me logo Genes that share compounds with MCTP1: view

Transcripts for MCTP1 Gene

Unigene Clusters for MCTP1 Gene

Multiple C2 domains, transmembrane 1:
Representative Sequences:

Clone Products

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: - -

ExUns: 23b

Relevant External Links for MCTP1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for MCTP1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, MaxQB, and MOPED for MCTP1 Gene

Protein tissue co-expression partners for MCTP1 Gene

NURSA nuclear receptor signaling pathways regulating expression of MCTP1 Gene:


SOURCE GeneReport for Unigene cluster for MCTP1 Gene:


Evidence on tissue expression from TISSUES for MCTP1 Gene

  • Nervous system(4.3)
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
(Pan troglodytes)
Mammalia MCTP1 33 34
  • 99.5 (n)
(Bos Taurus)
Mammalia LOC100298968 33
  • 95.99 (n)
MCTP1 34
  • 88 (a)
(Canis familiaris)
Mammalia MCTP1 33 34
  • 94.59 (n)
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 94 (a)
-- 34
  • 86 (a)
(Monodelphis domestica)
Mammalia MCTP1 34
  • 93 (a)
(Mus musculus)
Mammalia Mctp1 33 16 34
  • 91.07 (n)
(Rattus norvegicus)
Mammalia Mctp1 33
  • 89.01 (n)
(Gallus gallus)
Aves MCTP1 33 34
  • 80.86 (n)
(Anolis carolinensis)
Reptilia MCTP1 34
  • 86 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia mctp1 33
  • 77.06 (n)
(Danio rerio)
Actinopterygii MCTP1 (2 of 2) 34
  • 77 (a)
LOC100334264 33
  • 66.95 (n)
mctp1b 34
  • 62 (a)
fruit fly
(Drosophila melanogaster)
Insecta Mctp 33 34
  • 51.77 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007646 33
  • 51.48 (n)
(Caenorhabditis elegans)
Secernentea D2092.1 33 34
  • 50.05 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes TCB1 36
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G61300 33
  • 41.75 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9926 34
  • 42 (a)
Species where no ortholog for MCTP1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 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

Gene Tree for MCTP1 (if available)
Gene Tree for MCTP1 (if available)

Paralogs for MCTP1 Gene

Paralogs for MCTP1 Gene

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

genes like me logo Genes that share paralogs with MCTP1: view

Variants for MCTP1 Gene

Sequence variations from dbSNP and Humsavar for MCTP1 Gene

SNP ID Clin Chr 05 pos Variation AA Info Type
rs1000000677 -- 95,273,784(-) G/A genic_upstream_transcript_variant, intron_variant
rs1000002912 -- 95,022,691(-) G/A genic_upstream_transcript_variant, intron_variant
rs1000003346 -- 94,961,381(-) G/A intron_variant
rs1000004930 -- 95,230,185(-) T/C genic_upstream_transcript_variant, intron_variant
rs1000012018 -- 94,773,796(-) G/A genic_downstream_transcript_variant, intron_variant

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

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
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

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 58
  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 44 58
  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 44 58
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  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 58

Products for MCTP1 Gene

Sources for MCTP1 Gene

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