Q6DN14 (MCTP1_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 1, 2013.
Version 74.
History...
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: Multiple C2 and transmembrane domain-containing protein 1 | ||
| Gene names |
| ||
| Organism | Homo sapiens (Human) [Reference proteome] | ||
| Taxonomic identifier | 9606 [NCBI] | ||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo![]() |
Protein attributes
| Sequence length | 999 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at transcript level |
General annotation (Comments)
| Cofactor | Binds calcium via the C2 domains in absence of phospholipids. Ref.1 |
| Subcellular location | Membrane; Multi-pass membrane protein Potential. |
| Sequence similarities | Belongs to the MCTP family. Contains 3 C2 domains. |
Ontologies
| Keywords | |
|---|---|
| Cellular component | Membrane |
| Coding sequence diversity | Alternative splicing Polymorphism |
| Domain | Repeat Transmembrane Transmembrane helix |
| Ligand | Calcium |
| Technical term | Complete proteome Reference proteome |
| Gene Ontology (GO) | |
| Biological_process | calcium-mediated signaling Non-traceable author statement Ref.1. Source: HGNC |
| Cellular_component | integral to membrane Inferred from direct assay Ref.1. Source: HGNC |
| Molecular_function | calcium ion binding Inferred from direct assay Ref.1. Source: HGNC |
| Complete GO annotation... | |
Alternative products
| This entry describes 5 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q6DN14-1) Also known as: MCTP1L; This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. | ||||||
| Isoform 2 (identifier: Q6DN14-2) Also known as: MCTP1S; The sequence of this isoform differs from the canonical sequence as follows: 1-221: Missing. 222-240: RSPAESRAPETGEEHGSSQ → MLDSCKLKSACNLPFICNK | ||||||
| Isoform 3 (identifier: Q6DN14-3) The sequence of this isoform differs from the canonical sequence as follows: 1-221: Missing. 222-240: RSPAESRAPETGEEHGSSQ → MLDSCKLKSACNLPFICNK 405-450: Missing. 813-852: Missing. | ||||||
| Isoform 4 (identifier: Q6DN14-4) The sequence of this isoform differs from the canonical sequence as follows: 1-221: Missing. 222-240: RSPAESRAPETGEEHGSSQ → MLDSCKLKSACNLPFICNK 813-821: LFLFVVWNF → ALYGTFINV 822-999: Missing. | ||||||
| Isoform 5 (identifier: Q6DN14-5) The sequence of this isoform differs from the canonical sequence as follows: 1-484: Missing. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 999 | 999 | Multiple C2 and transmembrane domain-containing protein 1 | PRO_0000294471 | |||||
Regions | |||||||||
| Transmembrane | 811 – 831 | 21 | Helical; Potential | ||||||
| Transmembrane | 914 – 934 | 21 | Helical; Potential | ||||||
| Domain | 248 – 344 | 97 | C2 1 | ||||||
| Domain | 457 – 553 | 97 | C2 2 | ||||||
| Domain | 613 – 708 | 96 | C2 3 | ||||||
| Compositional bias | 152 – 169 | 18 | Ser-rich | ||||||
Natural variations | |||||||||
| Alternative sequence | 1 – 484 | 484 | Missing in isoform 5. | VSP_026655 | |||||
| Alternative sequence | 1 – 221 | 221 | Missing in isoform 2, isoform 3 and isoform 4. | VSP_026656 | |||||
| Alternative sequence | 222 – 240 | 19 | RSPAE…HGSSQ → MLDSCKLKSACNLPFICNK in isoform 2, isoform 3 and isoform 4. | VSP_026657 | |||||
| Alternative sequence | 405 – 450 | 46 | Missing in isoform 3. | VSP_026658 | |||||
| Alternative sequence | 813 – 852 | 40 | Missing in isoform 3. | VSP_026659 | |||||
| Alternative sequence | 813 – 821 | 9 | LFLFVVWNF → ALYGTFINV in isoform 4. | VSP_026660 | |||||
| Alternative sequence | 822 – 999 | 178 | Missing in isoform 4. | VSP_026661 | |||||
| Natural variant | 612 | 1 | R → K. Ref.2 Ref.4 Corresponds to variant rs9885412 [ dbSNP | Ensembl ]. | VAR_033189 | |||||
Experimental info | |||||||||
| Sequence conflict | 195 | 1 | H → R in AAT73058. Ref.1 | ||||||
| Sequence conflict | 215 | 1 | P → A in AAT73058. Ref.1 | ||||||
| Sequence conflict | 727 | 1 | K → R in BAB15311. Ref.2 | ||||||
| Sequence conflict | 907 | 1 | N → S in BAB15311. Ref.2 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Evolutionarily conserved multiple C2 domain proteins with two transmembrane regions (MCTPs) and unusual Ca2+ binding properties." Shin O.H., Han W., Wang Y., Sudhof T.C. J. Biol. Chem. 280:1641-1651(2005) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2), COFACTOR. |
| [2] | "Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. Sugano S.Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 3 AND 5), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 639-999 (ISOFORM 3), VARIANT LYS-612. Tissue: Brain. |
| [3] | "The DNA sequence and comparative analysis of human chromosome 5." Schmutz J., Martin J., Terry A., Couronne O., Grimwood J., Lowry S., Gordon L.A., Scott D., Xie G., Huang W., Hellsten U., Tran-Gyamfi M., She X., Prabhakar S., Aerts A., Altherr M., Bajorek E., Black S. Rubin E.M.Nature 431:268-274(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [4] | "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 4), VARIANT LYS-612. Tissue: Ovary. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | AY656715 mRNA. Translation: AAT73058.1. AY656716 mRNA. Translation: AAT73059.1. AK025997 mRNA. Translation: BAB15311.1. AK057694 mRNA. Translation: BAB71547.1. AK091330 mRNA. Translation: BAC03637.1. AC008534 Genomic DNA. No translation available. AC008573 Genomic DNA. No translation available. AC010362 Genomic DNA. No translation available. AC012312 Genomic DNA. No translation available. AC099507 Genomic DNA. No translation available. BC030005 mRNA. Translation: AAH30005.1. |
| IPI | IPI00187082. IPI00431791. IPI00436228. IPI00852937. IPI00853029. |
| RefSeq | NP_001002796.1. NM_001002796.2. NP_078993.4. NM_024717.4. |
| UniGene | Hs.655087. |
3D structure databases | |
| HSSP | HSSP built from PDB template 3RPB based on UniProtKB P47709. |
| ProteinModelPortal | Q6DN14. |
| SMR | Q6DN14. Positions 262-381, 414-775. |
| ModBase | Search... |
PTM databases | |
| PhosphoSite | Q6DN14. |
Polymorphism databases | |
| DMDM | 300669650. |
Proteomic databases | |
| PaxDb | Q6DN14. |
| PRIDE | Q6DN14. |
Protocols and materials databases | |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000312216; ENSP00000308957; ENSG00000175471. ENST00000429576; ENSP00000391639; ENSG00000175471. ENST00000505078; ENSP00000426417; ENSG00000175471. ENST00000505208; ENSP00000426438; ENSG00000175471. ENST00000515393; ENSP00000424126; ENSG00000175471. ENST00000573142; ENSP00000458936; ENSG00000262742. ENST00000573439; ENSP00000461049; ENSG00000262742. ENST00000573975; ENSP00000458477; ENSG00000262742. ENST00000574707; ENSP00000461062; ENSG00000262742. ENST00000575480; ENSP00000460509; ENSG00000262742. |
| GeneID | 79772. |
| KEGG | hsa:79772. |
| UCSC | uc003kku.2. human. uc003kkv.2. human. uc003kkw.2. human. |
Organism-specific databases | |
| CTD | 79772. |
| GeneCards | GC05M094068. |
| H-InvDB | HIX0005040. HIX0120991. |
| HGNC | HGNC:26183. MCTP1. |
| HPA | HPA019018. |
| neXtProt | NX_Q6DN14. |
| PharmGKB | PA142671472. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | COG5038. |
| HOGENOM | HOG000230810. |
| HOVERGEN | HBG055341. |
| InParanoid | Q6DN14. |
| OMA | CIPLRYI. |
| OrthoDB | EOG4PRSQ2. |
Gene expression databases | |
| ArrayExpress | Q6DN14. |
| Bgee | Q6DN14. |
| CleanEx | HS_MCTP1. |
| Genevestigator | Q6DN14. |
Family and domain databases | |
| InterPro | IPR000008. C2_Ca-dep. IPR008973. C2_Ca/lipid-bd_dom_CaLB. IPR020477. C2_dom. IPR018029. C2_membr_targeting. IPR013583. PRibTrfase_C. [Graphical view] |
| Pfam | PF00168. C2. 3 hits. PF08372. PRT_C. 1 hit. [Graphical view] |
| PRINTS | PR00360. C2DOMAIN. |
| SMART | SM00239. C2. 3 hits. [Graphical view] |
| SUPFAM | SSF49562. C2_CaLB. 3 hits. |
| PROSITE | PS50004. C2. 3 hits. [Graphical view] |
| ProtoNet | Search... |
Other | |
| GenomeRNAi | 79772. |
| NextBio | 69253. |
Entry information
| Entry name | MCTP1_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q6DN14 Secondary accession number(s): Q6DN13 Q9H6E8 | ||||||||
| Entry history |
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| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation program | Chordata Protein Annotation Program | ||||||||
| Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. | ||||||||
Relevant documents
| Human chromosome 5 Human chromosome 5: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| SIMILARITY comments Index of protein domains and families |

Clusters with
