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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

MCTP1 Gene

protein-coding GIFtS: 48
GCID: GC05M094068

multiple C2 domains, transmembrane 1

Explore 1 disease affiliated with
MCTP1 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Multiple C2 Domains, Transmembrane 1¹ ²
FLJ22344¹
Multiple C2 And Transmembrane Domain-Containing Protein 1²
Multiple C2-Domains With Two Transmembrane Regions 1²

External Ids:	HGNC: 26183¹	Entrez Gene: 79772²	Ensembl: ENSG00000175471⁷	UniProtKB: Q6DN14³

Export aliases for MCTP1 gene to outside databases

Previous GC identifer: GC05M089215

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000005.9 NC_018916.1 NT_034772.6

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the MCTP1 gene promoter:
HEN1 Pax-5 COMP1 MyoD POU3F2 (N-Oct-5a) POU3F2 (N-Oct-5b) Nkx2-5 POU3F2
Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 3): MCTP1 promoter sequence

Search SABiosciences Chromatin IP Primers for MCTP1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MCTP1

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 5q15 Ensembl cytogenetic band: 5q15 HGNC cytogenetic band: 5q15

MCTP1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MCTP1 gene location

GeneLoc information about chromosome 5 GeneLoc Exon Structure

GeneLoc location for GC05M094068: view genomic region (about GC identifiers)

Start:	94,039,446 bp from pter	End:	94,620,279 bp from pter
Size:	580,834 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: MCTP1_HUMAN, Q6DN14 (See protein sequence)

Recommended Name: Multiple C2 and transmembrane domain-containing protein 1

Size: 999 amino acids; 111624 Da

Cofactor: Binds calcium via the C2 domains in absence of phospholipids

Subcellular location: Membrane; Multi-pass membrane protein (Potential)

Secondary accessions: Q6DN13 Q8N2W1 Q8NBA2 Q96LX0 Q9H6E8

Alternative splicing: 5 isoforms: Q6DN14-1 Q6DN14-2 Q6DN14-3 Q6DN14-4 Q6DN14-5

Explore the universe of human proteins at neXtProt for MCTP1: NX_Q6DN14

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q6DN14

MCTP1 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (2 alternative transcripts):

NP_001002796.1 NP_078993.4

ENSEMBL proteins:

ENSP00000424126 ENSP00000391639 ENSP00000426417 ENSP00000308957 ENSP00000423410

ENSP00000431075 ENSP00000426438 ENSP00000426294 ENSP00000425515 ENSP00000424936

ENSP00000421543 ENSP00000422219 ENSP00000422317

Human Recombinant Protein Products for MCTP1:

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	Uscn Proteins for MCTP1

Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005624	membrane fraction	--	--
GO:0016021	integral to membrane	IDA	15528213

MCTP1 for ontologies About GeneDecksing

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	Uscn ELISAs and CLIAs for MCTP1

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

MCTP1 for domains About GeneDecksing

5 InterPro domains/families:

IPR013583 PRibTrfase_C

IPR018029 C2_membr_targeting

IPR008973 C2_Ca/lipid-bd_dom_CaLB

IPR020477 C2_dom

IPR000008 C2_Ca-dep

Graphical View of Domain Structure for InterPro Entry Q6DN14

ProtoNet protein and cluster: Q6DN14

1 Blocks protein family: IPB000008 C2 domain

UniProtKB/Swiss-Prot: MCTP1_HUMAN, Q6DN14

Similarity: Belongs to the MCTP family

Similarity: Contains 3 C2 domains

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005509	calcium ion binding	IDA	15528213
GO:0005544	NOT calcium-dependent phospholipid binding	IDA	15528213

MCTP1 for ontologies About GeneDecksing

Phenotypes:
1 GenomeRNAi human phenotype for MCTP1:

Synthetic lethal with c-Myc af

Animal Models:

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for MCTP1

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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MCTP1

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for MCTP1

Gene Ontology (GO): 1 biological process term (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0019722	calcium-mediated signaling	NAS	15528213

MCTP1 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for MCTP1

1 HMDB Compound for MCTP1 About this table

Compound	Synonyms	CAS #	PubMed Ids
Calcium	Ca (see all 2)	7440-70-2	--

Search CenterWatch for drugs/clinical trials and news about MCTP1

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
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Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for MCTP1 gene (2 alternative transcripts):

NM_001002796.2 NM_024717.4

Unigene Cluster for MCTP1:

Multiple C2 domains, transmembrane 1

Hs.655087 [show with all ESTs]

Unigene Representative Sequence: NM_024717

18 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000514040 ENST00000515393(uc003kkv.2 uc003kkx.2) ENST00000429576(uc003kkw.2)

ENST00000505078(uc003kku.2) ENST00000312216 ENST00000509850 ENST00000508509

ENST00000512425 ENST00000505208(uc003kkz.2) ENST00000506568 ENST00000503301

ENST00000507214 ENST00000514780 ENST00000512568 ENST00000510732 ENST00000513695

ENST00000505465 ENST00000513857

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Additional cDNA sequence:

AK025997.1 AK055966.1 AK057694.1 AK058012.1 AK091330.1 AK097929.1 AK297325.1 AY656715.1

AY656716.1 BC030005.2

12 DOTS entries:

DT.102836491 DT.104321 DT.99938460 DT.120815390 DT.95156791 DT.100752165 DT.99930505 DT.436961

DT.120815446 DT.100652801 DT.91804897 DT.99955154

24/73 AceView cDNA sequences (see all 73):

NM_001002796 CR593305 AX746916 AK057694 AA382345 AY656716 BC030005 CD632271

AK091330 CD632273 BX505797 BX952619 BG168409 CA425912 AK097929 NM_024717

CD690767 BG180140 CD632266 BM015481 AK058012 AY656715 CB243358 AV714022

GeneLoc Exon Structure

4 Alternative Splicing Database (ASD) splice patterns (SP) for MCTP1 About this scheme

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:

ECgene alternative splicing isoforms for MCTP1

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

MCTP1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GTGCTGGTAA

About this image

MCTP1 expression in embryonic tissues and stem cells
Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

1 LifeMap In Vivo Development Anatomical Compartment/Cell

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Bone

Maxillary Process

Bone

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 1 LifeMap Cell

Name

Category

PureStem™ epithelial progenitor E164 (Embryonic Progenitor Cell)

Intermediate Mesoderm, Kidney

See MCTP1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for MCTP1

SOURCE GeneReport for Unigene cluster: Hs.655087

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In Situ
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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of eukaryotes.

Orthologs for MCTP1 gene from 8/22 species (see all 22) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Mctp1^{1 , 5}	multiple C2 domains, transmembrane 1^{1, 5}	91.07(n)¹ 96.4(a)¹		13 (40.98 cM)⁵ 78771¹ NM_030174.2¹ NP_084450.2¹ 76384535⁵
chicken (Gallus gallus)	Aves	MCTP1¹	multiple C2 domains, transmembrane 1	85.72(n) 90.31(a)		427113 XM_424705.3 XP_424705.3
lizard (Anolis carolinensis)	Reptilia	MCTP1⁶	--	86(a)	1 ↔ 1	2(25495779-25649343)
zebrafish (Danio rerio)	Actinopterygii	LOC571725¹	multiple C2 and transmembrane domain-containing protein more	72.55(n) 79.22(a)		571725 XM_001921280.2 XP_001921315.2
fruit fly (Drosophila melanogaster)	Insecta	Mctp¹	Multiple C2 domain and transmembrane region protein	52.38(n) 47.87(a)		37165 NM_137528.4 NP_611372.3
worm (Caenorhabditis elegans)	Secernentea	D2092.1⁶	--	31(a)	1 → many	I(6629760-6637430)
thale cress (Arabidopsis thaliana)	eudicotyledons	AT5G12970⁶ AT3G57880⁶ (see all 17)	calcium-dependent lipid-binding domain-containing ... calcium-dependent lipid-binding domain-containing ... (see all 17)	19(a) 19(a) (see all 17)	many ↔ many many ↔ many (see all 17)	5(4102135-4105327) 3(21430983-21434600)
rice (Oryza sativa)	Liliopsida	Os07g0483500¹	hypothetical protein	41.22(n) 26.64(a)		4343239 NM_001066182.1 NP_001059647.1

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

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for MCTP1 gene

ESYT1² MCTP2² ESYT3² ESYT2²

1 SIMAP similar gene for MCTP1 using alignment to 9 protein entries: MCTP1_HUMAN (see all proteins):

MCTP2

MCTP1 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 5 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs35608783^1,2	C	--	89384653(+)	`ATGTC-/AATATT`	1	--	int¹		1		NA	2
rs142705501^1,2		--	94041827(+)	`TTCCAA/GTATAA`	2	--	int¹		0	--	--	--	--
rs145999566^1,2		--	94042007(+)	`AGATAC/TAAAAA`	2	--	int¹		0	--	--	--	--
rs189536238^1,2		--	94042072(+)	`TGAAAC/TATTGA`	2	--	int¹		0	--	--	--	--
rs142431842^1,2	C	--	94042120(+)	`TACAA-/AACAACAG`	2	--	int¹		0	--	--	--	--
rs78371824^1,2	C	--	94042149(+)	`AATGA-/TTTTTT`	2	--	int¹		0	--	--	--	--
rs147621479^1,2	C	--	94042150(+)	`TTTTT-/TAATAA`	2	--	int¹		0	--	--	--	--
rs139920800^1,2		--	94042267(+)	`AGTAAC/TCTAAT`	2	--	int¹		0	--	--	--	--
rs201016528^1,2	C	--	94042296(-)	`TCTCAA/GAGAAA`	2	--	ut3¹		0	--	--	--	--
rs193076217^1,2		--	94042307(+)	`GCACTG/TGAGTA`	2	--	ut3¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for MCTP1 (94039446 - 94289446 bp, first 250kb of MCTP1)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 12 variations for MCTP1
8 CNVs: 99209 36437 99208 36436 6428 36438 36440 36439
4 Indels: 42577 46940 40786 62405

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QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing MCTP1

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

MCTP1 for disorders About GeneDecksing

1 disease for MCTP1: About MalaCards

bipolar disorder

Human Genome Epidemiology (HuGE) Navigator: MCTP1 (2 documents)

Export disorders for MCTP1 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for MCTP1 gene integrated from 9 sources:
(articles sorted by number of sources associating them with MCTP1)

Utopia: connect your pdf to the dynamic
world of online information

Evolutionarily conserved multiple C2 domain proteins with two transmembrane regions (MCTPs) and unusual Ca2+ binding properties. (PubMed id 15528213)^{1, 2, 3} Shin O.H.... Sudhof T.C. (2005)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (2004)
Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)¹ Rose J.E....Uhl G.R. (2010)
Genome-wide association and meta-analysis of bipolar disorder in individuals of European ancestry. (PubMed id 19416921)¹ Scott L.J....Boehnke M. (2009)
The DNA sequence and comparative analysis of human chromosome 5. (PubMed id 15372022)² Schmutz J.... Rubin E.M. (2004)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)² Gerhard D.S....Malek J. (2004)
Circular rapid amplification of cDNA ends for high-throughput extension cloning of partial genes. (PubMed id 15203218)¹ Fu G.K....Stuve L.L. (2004)
Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)¹ Strausberg R.L....Marra M.A. (2002)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 79772	HGNC: 26183	AceView: MCTP1	Ensembl:ENSG00000175471	euGenes: HUgn79772
ECgene: MCTP1	H-InvDB: MCTP1

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for MCTP1	Pharmacogenomics, SNPs, Pathways

Intellectual Property for MCTP1 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for MCTP1 gene:
Search GeneIP for patents involving MCTP1

GeneCards and IP:
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multiple C2 domains, transmembrane 1

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multiple C2 domains, transmembrane 1

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