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Aliases for MCTP1 Gene

Aliases for MCTP1 Gene

  • Multiple C2 Domains, Transmembrane 1 2 3

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 Domains, Transmembrane 1) is a Protein Coding gene. GO annotations related to this gene include calcium ion binding and calcium-dependent phospholipid binding. An important paralog of this gene is ESYT2.

No data available for Entrez Gene Summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MCTP1 Gene

Genomics for MCTP1 Gene

Regulatory Elements for MCTP1 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for MCTP1 Gene

Chromosome:
5
Start:
94,703,690 bp from pter
End:
95,284,575 bp from pter
Size:
580,886 bases
Orientation:
Minus strand

Genomic View for MCTP1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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; Note=Binds Ca(2+) via the C2 domains in absence of phospholipids.;
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for MCTP1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MCTP1 Gene

Proteomics data for MCTP1 Gene at MOPED

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

Protein Domains for MCTP1 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for MCTP1 Gene

Graphical View of Domain Structure for InterPro Entry

Q6DN14

UniProtKB/Swiss-Prot:

MCTP1_HUMAN :
  • Contains 3 C2 domains.
  • Belongs to the MCTP family.
Domain:
  • Contains 3 C2 domains.
Family:
  • Belongs to the MCTP family.
genes like me logo Genes that share domains with MCTP1: view

Function 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:0005515 protein binding --
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

No data available for Molecular function , Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for MCTP1 Gene

Localization for MCTP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MCTP1 Gene

Membrane; Multi-pass membrane protein.

Gene Ontology (GO) - Cellular Components for MCTP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular NAS 15528213
GO:0016021 integral component of membrane IDA 15528213
genes like me logo Genes that share ontologies with MCTP1: view

No data available for Subcellular locations from COMPARTMENTS for MCTP1 Gene

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
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 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:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for MCTP1

Flow Cytometry 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: - -
SP3:
SP4:

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

Relevant External Links for MCTP1 Gene

GeneLoc Exon Structure for
MCTP1
ECgene alternative splicing isoforms for
MCTP1

Expression for MCTP1 Gene

mRNA expression in normal human tissues 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, MOPED, and MaxQB for MCTP1 Gene



SOURCE GeneReport for Unigene cluster for MCTP1 Gene Hs.655087

genes like me logo Genes that share expression patterns with MCTP1: view

Protein tissue co-expression partners for MCTP1 Gene

Primer Products

  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt 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
cow
(Bos Taurus)
Mammalia LOC100298968 35
  • 95.99 (n)
  • 97.48 (a)
MCTP1 36
  • 88 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MCTP1 35
  • 94.59 (n)
  • 96.51 (a)
MCTP1 36
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Mctp1 35
  • 91.07 (n)
  • 96.4 (a)
Mctp1 16
Mctp1 36
  • 96 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia MCTP1 35
  • 99.5 (n)
  • 99.3 (a)
MCTP1 36
  • 98 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mctp1 35
  • 89.01 (n)
  • 91.75 (a)
oppossum
(Monodelphis domestica)
Mammalia MCTP1 36
  • 93 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 86 (a)
OneToMany
-- 36
  • 94 (a)
OneToMany
chicken
(Gallus gallus)
Aves MCTP1 35
  • 80.86 (n)
  • 82.93 (a)
MCTP1 36
  • 89 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MCTP1 36
  • 86 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mctp1 35
  • 77.06 (n)
  • 80.66 (a)
zebrafish
(Danio rerio)
Actinopterygii LOC100334264 35
  • 66.95 (n)
  • 68.62 (a)
MCTP1 (2 of 2) 36
  • 77 (a)
OneToMany
mctp1b 36
  • 62 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007646 35
  • 51.48 (n)
  • 46.35 (a)
fruit fly
(Drosophila melanogaster)
Insecta Mctp 35
  • 51.77 (n)
  • 46.67 (a)
Mctp 36
  • 36 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea D2092.1 35
  • 50.05 (n)
  • 39.19 (a)
D2092.1 36
  • 33 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes TCB1 38
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G61300 35
  • 41.75 (n)
  • 27.81 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9926 36
  • 42 (a)
OneToMany
Species with no ortholog for MCTP1:
  • 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

ENSEMBL:
Gene Tree for MCTP1 (if available)
TreeFam:
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 Sequence Context AA Info Type MAF
VAR_033189 -

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

Variant ID Type Subtype PubMed ID
nsv462254 CNV Loss 19166990
nsv882387 CNV Loss 21882294
esv2648135 CNV Deletion 19546169
esv2133594 CNV Deletion 18987734
esv5176 CNV Deletion 18987735
esv2730475 CNV Deletion 23290073
esv8917 CNV Loss 19470904
nsv823144 CNV Loss 20364138
nsv327898 CNV Insertion 16902084
nsv329198 CNV Loss 16902084
esv2659617 CNV Deletion 23128226
esv2677476 CNV Deletion 23128226
nsv509981 CNV Loss 20534489
nsv830407 CNV Gain+Loss 17160897
esv2730476 CNV Deletion 23290073
nsv327439 CNV Loss 16902084
nsv509076 CNV Insertion 20534489
nsv511111 CNV Complex 20534489
nsv4922 CNV Insertion 18451855
esv2730477 CNV Deletion 23290073
esv1002880 CNV Insertion 20482838
dgv49n47 CNV Gain 21111241
nsv474962 CNV Insertion 20440878
esv2730478 CNV Deletion 23290073
esv2730479 CNV Deletion 23290073
esv2515116 CNV Deletion 19546169

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)

Relevant External Links for MCTP1 Gene

HapMap Linkage Disequilibrium report
MCTP1

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

Disorders for MCTP1 Gene

Relevant External Links for MCTP1

Genetic Association Database (GAD)
MCTP1
Human Genome Epidemiology (HuGE) Navigator
MCTP1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MCTP1
genes like me logo Genes that share disorders with MCTP1: view

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 O.H. … Sudhof T.C. (J. Biol. Chem. 2005) 2 67
  2. Genetic variants associated with disordered eating. (PMID: 23568457) Wade T.D. … Martin N.G. (Int J Eat Disord 2013) 67
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 67
  4. Genome-wide association and meta-analysis of bipolar disorder in individuals of European ancestry. (PMID: 19416921) Scott L.J. … Boehnke M. (Proc. Natl. Acad. Sci. U.S.A. 2009) 67
  5. Genome-wide association to body mass index and waist circumference: the Framingham Heart Study 100K project. (PMID: 17903300) Fox C.S. … Atwood L.D. (BMC Med. Genet. 2007) 67

Products for MCTP1 Gene

Sources for MCTP1 Gene

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