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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. GO annotations related to this gene include calcium ion binding and calcium-dependent phospholipid binding. An important paralog of this gene is MCTP2.

No data available for Entrez Gene Summary , CIViC 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

Enhancers for MCTP1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH05G095086 1.1 Ensembl ENCODE 20 +196.9 196929 1.5 TBP PKNOX1 TBL1XR1 BMI1 FEZF1 ZNF335 ZNF207 FOS RELB IKZF2 MCTP1 ENSG00000249545 LOC105379085
GH05G095078 0.9 ENCODE 19.2 +202.7 202704 5.9 TBP RAD21 BRCA1 ZBTB40 RFX5 CBX5 SCRT2 RCOR1 RELB ETV6 MCTP1 ENSG00000249545 LOC105379085
GH05G095027 1 FANTOM5 Ensembl 13.5 +257.0 256975 1.2 SRF PKNOX1 BACH1 MAX DPF2 CHD7 FOXA1 GATA3 CTBP1 NFE2 MCTP1 ENSG00000249545 LOC105379085
GH05G095177 1.1 Ensembl ENCODE 11 +106.4 106420 1.6 FEZF1 ZNF2 RAD21 GLIS2 ZSCAN5C KLF7 ZNF263 ZNF654 YY2 OVOL3 MCTP1 ENSG00000249545 ARSK LOC105379085
GH05G095262 0.8 ENCODE 12 +21.5 21485 0.9 ELF3 TBP FOXA2 ZSCAN9 RAD21 RARA YY1 CREM MIXL1 THAP11 MCTP1 ENSG00000249545 LOC105379085
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around MCTP1 on UCSC Golden Path with GeneCards custom track

Promoters for MCTP1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000184164 175 1201 SIN3A FEZF1 ZNF2 ZNF48 GLIS2 GATA2 ZNF202 ZNF263 SP3 REST

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

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

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 :
  • 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

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

No data available for Molecular function , 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

Membrane; Multi-pass membrane protein.

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
plasma membrane 3
cytosol 3
mitochondrion 1
nucleus 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for MCTP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IBA --
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
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:

CRISPR Products

Inhibitory RNA 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 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:

MCTP1

SOURCE GeneReport for Unigene cluster for MCTP1 Gene:

Hs.655087

Evidence on tissue expression from TISSUES for MCTP1 Gene

  • Nervous system(4.4)
genes like me logo Genes that share expression patterns with MCTP1: view

Primer Products

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 34 35
  • 99.5 (n)
cow
(Bos Taurus)
Mammalia LOC100298968 34
  • 95.99 (n)
MCTP1 35
  • 88 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MCTP1 34 35
  • 94.59 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 94 (a)
OneToMany
-- 35
  • 86 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia MCTP1 35
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Mctp1 34 16 35
  • 91.07 (n)
rat
(Rattus norvegicus)
Mammalia Mctp1 34
  • 89.01 (n)
chicken
(Gallus gallus)
Aves MCTP1 34 35
  • 80.86 (n)
lizard
(Anolis carolinensis)
Reptilia MCTP1 35
  • 86 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mctp1 34
  • 77.06 (n)
zebrafish
(Danio rerio)
Actinopterygii MCTP1 (2 of 2) 35
  • 77 (a)
OneToMany
LOC100334264 34
  • 66.95 (n)
mctp1b 35
  • 62 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Mctp 34 35
  • 51.77 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007646 34
  • 51.48 (n)
worm
(Caenorhabditis elegans)
Secernentea D2092.1 34 35
  • 50.05 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes TCB1 37
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G61300 34
  • 41.75 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9926 35
  • 42 (a)
OneToMany
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

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
rs1000000677 -- 95,273,784(+) CAGGG(A/G)GAAAA intron-variant
rs1000002912 -- 95,022,691(+) CTCAT(A/G)TAATG intron-variant
rs1000003346 -- 94,961,381(+) TGCAC(A/G)TTCTG intron-variant
rs1000004930 -- 95,230,185(+) ATATA(C/T)GTGTG intron-variant
rs1000012018 -- 94,773,796(+) GAACA(A/G)CACAG 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)

Relevant External Links for MCTP1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
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

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 O.H. … Sudhof T.C. (J. Biol. Chem. 2005) 2 3 4 64
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  3. 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) 3 46 64
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  5. Multiple C2 domains transmembrane protein 1 is expressed in CNS neurons and possibly regulates cellular vesicle retrieval and oxidative stress. (PMID: 26195140) Qiu L. … Liang F. (J. Neurochem. 2015) 3 64

Products for MCTP1 Gene

Sources for MCTP1 Gene

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