Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	79772
Gene name	Multiple C2 and transmembrane domain containing 1
Gene symbol	MCTP1
Synonyms (NCBI Gene)	-
Chromosome	5
Chromosome location	5q15

Show/Hide all (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
MIRT656414	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT656413	hsa-miR-4287	HITS-CLIP	23824327
MIRT656412	hsa-miR-4685-3p	HITS-CLIP	23824327
MIRT656411	hsa-miR-642a-5p	HITS-CLIP	23824327
MIRT656410	hsa-miR-204-5p	HITS-CLIP	23824327
MIRT656409	hsa-miR-211-5p	HITS-CLIP	23824327
MIRT656408	hsa-miR-6505-5p	HITS-CLIP	23824327
MIRT656407	hsa-miR-4755-5p	HITS-CLIP	23824327
MIRT656406	hsa-miR-5006-3p	HITS-CLIP	23824327
MIRT656405	hsa-miR-510-3p	HITS-CLIP	23824327
MIRT656404	hsa-miR-4446-5p	HITS-CLIP	23824327
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
MIRT656414	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT656413	hsa-miR-4287	HITS-CLIP	23824327
MIRT656412	hsa-miR-4685-3p	HITS-CLIP	23824327
MIRT656411	hsa-miR-642a-5p	HITS-CLIP	23824327
MIRT656410	hsa-miR-204-5p	HITS-CLIP	23824327
MIRT656409	hsa-miR-211-5p	HITS-CLIP	23824327
MIRT656408	hsa-miR-6505-5p	HITS-CLIP	23824327
MIRT656407	hsa-miR-4755-5p	HITS-CLIP	23824327
MIRT656406	hsa-miR-5006-3p	HITS-CLIP	23824327
MIRT656405	hsa-miR-510-3p	HITS-CLIP	23824327
MIRT656404	hsa-miR-4446-5p	HITS-CLIP	23824327
MIRT1138069	hsa-miR-4509	CLIP-seq
MIRT1138070	hsa-miR-4744	CLIP-seq
MIRT1920614	hsa-miR-3668	CLIP-seq
MIRT1920615	hsa-miR-3935	CLIP-seq
MIRT1920616	hsa-miR-552	CLIP-seq
MIRT2039206	hsa-miR-3660	CLIP-seq
MIRT2039207	hsa-miR-4526	CLIP-seq
MIRT2039208	hsa-miR-4666-3p	CLIP-seq
MIRT2390738	hsa-miR-2467-5p	CLIP-seq
MIRT2390739	hsa-miR-3188	CLIP-seq
MIRT2390740	hsa-miR-3616-3p	CLIP-seq
MIRT2390741	hsa-miR-3929	CLIP-seq
MIRT2390742	hsa-miR-3975	CLIP-seq
MIRT2390743	hsa-miR-4419b	CLIP-seq
MIRT2390744	hsa-miR-4478	CLIP-seq
MIRT2390745	hsa-miR-4649-3p	CLIP-seq
MIRT2390746	hsa-miR-4663	CLIP-seq
MIRT2390747	hsa-miR-4721	CLIP-seq
MIRT2390748	hsa-miR-485-5p	CLIP-seq

Show/Hide all (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
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	ISS
GO:0016020	Component	Membrane	IDA	15528213
GO:0016020	Component	Membrane	IEA
GO:0019722	Process	Calcium-mediated signaling	NAS	15528213
GO:0030336	Process	Negative regulation of cell migration	IEA
GO:0030336	Process	Negative regulation of cell migration	ISS
GO:0030672	Component	Synaptic vesicle membrane	IBA
GO:0030672	Component	Synaptic vesicle membrane	IEA
GO:0030672	Component	Synaptic vesicle membrane	ISS
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0045202	Component	Synapse	IEA
GO:0045806	Process	Negative regulation of endocytosis	IEA
GO:0045806	Process	Negative regulation of endocytosis	ISS
GO:0046872	Function	Metal ion binding	IEA
GO:0046928	Process	Regulation of neurotransmitter secretion	IBA
GO:0046928	Process	Regulation of neurotransmitter secretion	ISS
GO:0048168	Process	Regulation of neuronal synaptic plasticity	ISS
GO:0055037	Component	Recycling endosome	IEA
GO:0055037	Component	Recycling endosome	ISS
GO:1902883	Process	Negative regulation of response to oxidative stress	IEA
GO:1902883	Process	Negative regulation of response to oxidative stress	ISS

MIM	HGNC	e!Ensembl
616296	26183	ENSG00000175471

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
TLKDPHYPDHDLGIILLSVILTPKEGESRDVTMLMRKSWKRSSKELSENEVVGSYFSVKS
LFWRTCGRPALPVLGFCRAELQNPYCKNVQFQTQSLRLSDLHRKSHLWRGIVSITLIEGR
DLKAMDSNGLSDPYVKFRLGHQKYKSKIMPKTLNPQWREQFDFHLYEERGGVIDITAWDK
DAGKRDDFIGRCQVDLSALSREQTHKLELQLEEGEGHLVLLVTLTASATVSISDLSVNSL
EDQKEREEILKRYSPLRIFHNLKDVGFLQVKVIRAEGLMAADVTGKSDPFCVVELNNDRL
LTHTVYKNLNPEWNKVFTFNIKDIHSVLEVTVYDEDRDRSADFLGKVAIPLLSIQNGEQK
AYVLKNKQLTGPTKGVIYLEIDVIFNAVKASLRTLIPKEQKYIEEENRLSKQLLLRNFIR
MKRCVMVLVNAAYYVNSCFDWDSPPRSLAAFVLFLFVVWNFELYMIPLVLLLLLTWNYFL
IISGKDNRQRDTVVEDMLEDEEEEDDKDDKDSEKKGFINKIYAIQEVCVSVQNILDEVAS
FGERIKNTFNWTVPFLSWLAIVALCVFTAILYCIPLRYIVLVWGINKFTKKLRSPYAIDN
NELLDFLSRVPSDVQVVQYQELKPDPSHSPYKRKKNNLG

Sequence length

999

Interactions

View interactions

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (16)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ANOREXIA NERVOSA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EATING DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEAD AND NECK MALIGNANT NEOPLASIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTROPHIC CARDIOMYOPATHY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KERATOCONUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE SCLEROSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NECROTIZING ENTEROCOLITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROMUSCULAR DISEASES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIPHERAL ARTERIAL DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SUBSTANCE ABUSE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (5)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Bipolar Disorder	Bipolar Disorder	GWASCAT_DG	19416921		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar Disorder	GWASDB_DG	19416921		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	33571139	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	GWASCAT_DG	29299148		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple System Atrophy	Multiple system atrophy	Pubtator	27470294	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

MCTP1 (multiple C2 and transmembrane domain containing 1)