Gene Gene information from NCBI Gene database.
Entrez ID 79772
Gene name Multiple C2 and transmembrane domain containing 1
Gene symbol MCTP1
Synonyms (NCBI Gene)
-
Chromosome 5
Chromosome location 5q15
miRNA miRNA information provided by mirtarbase database.
50
miRTarBase ID miRNA Experiments Reference
MIRT021932 hsa-miR-128-3p Microarray 17612493
MIRT656417 hsa-miR-203a-3p HITS-CLIP 23824327
MIRT656417 hsa-miR-203a-3p HITS-CLIP 23824327
MIRT656416 hsa-miR-1470 HITS-CLIP 23824327
MIRT656415 hsa-miR-4667-3p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
27
GO ID Ontology Definition Evidence Reference
GO:0005509 Function Calcium ion binding IBA
GO:0005509 Function Calcium ion binding IDA 15528213
GO:0005544 Function Calcium-dependent phospholipid binding IDA 15528213
GO:0005768 Component Endosome IEA
GO:0005783 Component Endoplasmic reticulum IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
616296 26183 ENSG00000175471
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q6DN14
Protein name Multiple C2 and transmembrane domain-containing protein 1
Protein 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.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00168 C2 261 362 C2 domain Domain
PF00168 C2 470 571 C2 domain Domain
PF00168 C2 626 725 C2 domain Domain
PF08372 PRT_C 828 977 Plant phosphoribosyltransferase C-terminal Family
Sequence
MEPRAAAAGEPEPPAASSSFQARLWKNLQLGVGRSKGGGGGRAGGPERRTADTPSPSPPP
PVGTGNAPARGSGAGSRWSGFKKRKQVLDRVFSSSQPNLCCSSPEPLEPGGAGRAEQGST
LRRRIREHLLPAVKGPAAASGAAGGTPPGGRSPDSAPSSSSASSSLSSSPQPPPRGDRAR
DEGARRQGPGAHLCHQKSSSLPGTACLEQLLEPPPPPAEPARSPAESRAPETGEEHGSSQ
KIINTAGTSNAEVPLADPGMYQLDITLRRGQSLAARDRGGTSDPYVKFKIGGKEVFRSKI
IHKNLNPVWEEKACILVDHLREPLYIKVFDYDFGLQDDFMGSAFLDLTQLELNRPTDVTL
TL
KDPHYPDHDLGIILLSVILTPKEGESRDVTMLMRKSWKRSSKELSENEVVGSYFSVKS
LFWRTCGRPALPVLGFCRAELQNPYCKNVQFQTQSLRLSDLHRKSHLWRGIVSITLIEGR
DLKAMDSNGLSDPYVKFRLGHQKYKSKIMPKTLNPQWREQFDFHLYEERGGVIDITAWDK
DAGKRDDFIGRCQVDLSALSREQTHKLELQL
EEGEGHLVLLVTLTASATVSISDLSVNSL
EDQKEREEILKRYSPLRIFHNLKDVGFLQVKVIRAEGLMAADVTGKSDPFCVVELNNDRL
LTHTVYKNLNPEWNKVFTFNIKDIHSVLEVTVYDEDRDRSADFLGKVAIPLLSIQNGEQK
AYVLK
NKQLTGPTKGVIYLEIDVIFNAVKASLRTLIPKEQKYIEEENRLSKQLLLRNFIR
MKRCVMVLVNAAYYVNSCFDWDSPPRSLAAFVLFLFVVWNFELYMIPLVLLLLLTWNYFL
IISGKDNRQRDTVVEDMLEDEEEEDDKDDKDSEKKGFINKIYAIQEVCVSVQNILDEVAS
FGERIKNTFNWTVPFLSWLAIVALCVFTAILYCIPLRYIVLVWGINKFTKKLRSPYAIDN
NELLDFLSRVPSDVQVV
QYQELKPDPSHSPYKRKKNNLG
Sequence length 999
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
1
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Gastric cancer Benign rs140944775 RCV005906502
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Esophageal Neoplasms Associate 33571139
Inflammatory Breast Neoplasms Associate 31532791
Multiple System Atrophy Associate 27470294
Synucleinopathies Associate 27470294