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Q6DN14

- MCTP1_HUMAN

UniProt

Q6DN14 - MCTP1_HUMAN

Protein

Multiple C2 and transmembrane domain-containing protein 1

Gene

MCTP1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 87 (01 Oct 2014)
      Sequence version 2 (13 Jul 2010)
      Previous versions | rss
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    Functioni

    Cofactori

    Binds calcium via the C2 domains in absence of phospholipids.1 Publication

    GO - Molecular functioni

    1. calcium ion binding Source: HGNC

    GO - Biological processi

    1. calcium-mediated signaling Source: HGNC

    Keywords - Ligandi

    Calcium

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Multiple C2 and transmembrane domain-containing protein 1
    Gene namesi
    Name:MCTP1
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 5

    Organism-specific databases

    HGNCiHGNC:26183. MCTP1.

    Subcellular locationi

    GO - Cellular componenti

    1. integral component of membrane Source: HGNC

    Keywords - Cellular componenti

    Membrane

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA142671472.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 999999Multiple C2 and transmembrane domain-containing protein 1PRO_0000294471Add
    BLAST

    Proteomic databases

    MaxQBiQ6DN14.
    PaxDbiQ6DN14.
    PRIDEiQ6DN14.

    PTM databases

    PhosphoSiteiQ6DN14.

    Expressioni

    Gene expression databases

    ArrayExpressiQ6DN14.
    BgeeiQ6DN14.
    CleanExiHS_MCTP1.
    GenevestigatoriQ6DN14.

    Organism-specific databases

    HPAiHPA019018.

    Structurei

    3D structure databases

    ProteinModelPortaliQ6DN14.
    SMRiQ6DN14. Positions 262-401, 414-746.
    ModBaseiSearch...
    MobiDBiSearch...

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei811 – 83121HelicalSequence AnalysisAdd
    BLAST
    Transmembranei914 – 93421HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini248 – 34497C2 1PROSITE-ProRule annotationAdd
    BLAST
    Domaini457 – 55397C2 2PROSITE-ProRule annotationAdd
    BLAST
    Domaini613 – 70896C2 3PROSITE-ProRule annotationAdd
    BLAST

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi152 – 16918Ser-richAdd
    BLAST

    Sequence similaritiesi

    Belongs to the MCTP family.Curated
    Contains 3 C2 domains.PROSITE-ProRule annotation

    Keywords - Domaini

    Repeat, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiCOG5038.
    HOGENOMiHOG000230810.
    HOVERGENiHBG055341.
    InParanoidiQ6DN14.
    OMAiERSETRH.
    PhylomeDBiQ6DN14.
    TreeFamiTF323373.

    Family and domain databases

    Gene3Di2.60.40.150. 3 hits.
    InterProiIPR000008. C2_dom.
    IPR013583. PRibTrfase_C.
    [Graphical view]
    PfamiPF00168. C2. 3 hits.
    PF08372. PRT_C. 1 hit.
    [Graphical view]
    PRINTSiPR00360. C2DOMAIN.
    SMARTiSM00239. C2. 3 hits.
    [Graphical view]
    SUPFAMiSSF49562. SSF49562. 3 hits.
    PROSITEiPS50004. C2. 3 hits.
    [Graphical view]

    Sequences (5)i

    Sequence statusi: Complete.

    This entry describes 5 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q6DN14-1) [UniParc]FASTAAdd to Basket

    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.

    « Hide

    MEPRAAAAGE PEPPAASSSF QARLWKNLQL GVGRSKGGGG GRAGGPERRT    50
    ADTPSPSPPP PVGTGNAPAR GSGAGSRWSG FKKRKQVLDR VFSSSQPNLC 100
    CSSPEPLEPG GAGRAEQGST LRRRIREHLL PAVKGPAAAS GAAGGTPPGG 150
    RSPDSAPSSS SASSSLSSSP QPPPRGDRAR DEGARRQGPG AHLCHQKSSS 200
    LPGTACLEQL LEPPPPPAEP ARSPAESRAP ETGEEHGSSQ KIINTAGTSN 250
    AEVPLADPGM YQLDITLRRG QSLAARDRGG TSDPYVKFKI GGKEVFRSKI 300
    IHKNLNPVWE EKACILVDHL REPLYIKVFD YDFGLQDDFM GSAFLDLTQL 350
    ELNRPTDVTL TLKDPHYPDH DLGIILLSVI LTPKEGESRD VTMLMRKSWK 400
    RSSKELSENE VVGSYFSVKS LFWRTCGRPA LPVLGFCRAE LQNPYCKNVQ 450
    FQTQSLRLSD LHRKSHLWRG IVSITLIEGR DLKAMDSNGL SDPYVKFRLG 500
    HQKYKSKIMP KTLNPQWREQ FDFHLYEERG GVIDITAWDK DAGKRDDFIG 550
    RCQVDLSALS REQTHKLELQ LEEGEGHLVL LVTLTASATV SISDLSVNSL 600
    EDQKEREEIL KRYSPLRIFH NLKDVGFLQV KVIRAEGLMA ADVTGKSDPF 650
    CVVELNNDRL LTHTVYKNLN PEWNKVFTFN IKDIHSVLEV TVYDEDRDRS 700
    ADFLGKVAIP LLSIQNGEQK AYVLKNKQLT GPTKGVIYLE IDVIFNAVKA 750
    SLRTLIPKEQ KYIEEENRLS KQLLLRNFIR MKRCVMVLVN AAYYVNSCFD 800
    WDSPPRSLAA FVLFLFVVWN FELYMIPLVL LLLLTWNYFL IISGKDNRQR 850
    DTVVEDMLED EEEEDDKDDK DSEKKGFINK IYAIQEVCVS VQNILDEVAS 900
    FGERIKNTFN WTVPFLSWLA IVALCVFTAI LYCIPLRYIV LVWGINKFTK 950
    KLRSPYAIDN NELLDFLSRV PSDVQVVQYQ ELKPDPSHSP YKRKKNNLG 999
    Length:999
    Mass (Da):111,624
    Last modified:July 13, 2010 - v2
    Checksum:i7AF1FC0ACDB3F599
    GO
    Isoform 2 (identifier: Q6DN14-2) [UniParc]FASTAAdd to Basket

    Also known as: MCTP1S

    The sequence of this isoform differs from the canonical sequence as follows:
         1-221: Missing.
         222-240: RSPAESRAPETGEEHGSSQ → MLDSCKLKSACNLPFICNK

    Show »
    Length:778
    Mass (Da):89,501
    Checksum:iA9E50FDDA42058E1
    GO
    Isoform 3 (identifier: Q6DN14-3) [UniParc]FASTAAdd to Basket

    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.

    Show »
    Length:692
    Mass (Da):79,381
    Checksum:i2868E17C0AFED4B7
    GO
    Isoform 4 (identifier: Q6DN14-4) [UniParc]FASTAAdd to Basket

    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.

    Show »
    Length:600
    Mass (Da):68,550
    Checksum:iEEAC65E61D93EE16
    GO
    Isoform 5 (identifier: Q6DN14-5) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-484: Missing.

    Show »
    Length:515
    Mass (Da):59,615
    Checksum:iA63F138E6FC63CA6
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti195 – 1951H → R in AAT73058. (PubMed:15528213)Curated
    Sequence conflicti215 – 2151P → A in AAT73058. (PubMed:15528213)Curated
    Sequence conflicti727 – 7271K → R in BAB15311. (PubMed:14702039)Curated
    Sequence conflicti907 – 9071N → S in BAB15311. (PubMed:14702039)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti612 – 6121R → K.2 Publications
    Corresponds to variant rs9885412 [ dbSNP | Ensembl ].
    VAR_033189

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 484484Missing in isoform 5. 1 PublicationVSP_026655Add
    BLAST
    Alternative sequencei1 – 221221Missing in isoform 2, isoform 3 and isoform 4. 3 PublicationsVSP_026656Add
    BLAST
    Alternative sequencei222 – 24019RSPAE…HGSSQ → MLDSCKLKSACNLPFICNK in isoform 2, isoform 3 and isoform 4. 3 PublicationsVSP_026657Add
    BLAST
    Alternative sequencei405 – 45046Missing in isoform 3. 1 PublicationVSP_026658Add
    BLAST
    Alternative sequencei813 – 85240Missing in isoform 3. 1 PublicationVSP_026659Add
    BLAST
    Alternative sequencei813 – 8219LFLFVVWNF → ALYGTFINV in isoform 4. 1 PublicationVSP_026660
    Alternative sequencei822 – 999178Missing in isoform 4. 1 PublicationVSP_026661Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    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.
    CCDSiCCDS34203.1. [Q6DN14-1]
    CCDS47247.1. [Q6DN14-2]
    RefSeqiNP_001002796.1. NM_001002796.2. [Q6DN14-2]
    NP_078993.4. NM_024717.4. [Q6DN14-1]
    XP_005272148.1. XM_005272091.2. [Q6DN14-3]
    UniGeneiHs.655087.

    Genome annotation databases

    EnsembliENST00000312216; ENSP00000308957; ENSG00000175471. [Q6DN14-2]
    ENST00000429576; ENSP00000391639; ENSG00000175471. [Q6DN14-3]
    ENST00000505078; ENSP00000426417; ENSG00000175471. [Q6DN14-5]
    ENST00000505208; ENSP00000426438; ENSG00000175471. [Q6DN14-4]
    ENST00000515393; ENSP00000424126; ENSG00000175471. [Q6DN14-1]
    GeneIDi79772.
    KEGGihsa:79772.
    UCSCiuc003kku.2. human. [Q6DN14-1]
    uc003kkv.2. human. [Q6DN14-2]
    uc003kkw.2. human. [Q6DN14-3]

    Polymorphism databases

    DMDMi300669650.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    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 .
    CCDSi CCDS34203.1. [Q6DN14-1 ]
    CCDS47247.1. [Q6DN14-2 ]
    RefSeqi NP_001002796.1. NM_001002796.2. [Q6DN14-2 ]
    NP_078993.4. NM_024717.4. [Q6DN14-1 ]
    XP_005272148.1. XM_005272091.2. [Q6DN14-3 ]
    UniGenei Hs.655087.

    3D structure databases

    ProteinModelPortali Q6DN14.
    SMRi Q6DN14. Positions 262-401, 414-746.
    ModBasei Search...
    MobiDBi Search...

    PTM databases

    PhosphoSitei Q6DN14.

    Polymorphism databases

    DMDMi 300669650.

    Proteomic databases

    MaxQBi Q6DN14.
    PaxDbi Q6DN14.
    PRIDEi Q6DN14.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000312216 ; ENSP00000308957 ; ENSG00000175471 . [Q6DN14-2 ]
    ENST00000429576 ; ENSP00000391639 ; ENSG00000175471 . [Q6DN14-3 ]
    ENST00000505078 ; ENSP00000426417 ; ENSG00000175471 . [Q6DN14-5 ]
    ENST00000505208 ; ENSP00000426438 ; ENSG00000175471 . [Q6DN14-4 ]
    ENST00000515393 ; ENSP00000424126 ; ENSG00000175471 . [Q6DN14-1 ]
    GeneIDi 79772.
    KEGGi hsa:79772.
    UCSCi uc003kku.2. human. [Q6DN14-1 ]
    uc003kkv.2. human. [Q6DN14-2 ]
    uc003kkw.2. human. [Q6DN14-3 ]

    Organism-specific databases

    CTDi 79772.
    GeneCardsi GC05M094068.
    H-InvDB HIX0005040.
    HIX0120991.
    HGNCi HGNC:26183. MCTP1.
    HPAi HPA019018.
    neXtProti NX_Q6DN14.
    PharmGKBi PA142671472.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG5038.
    HOGENOMi HOG000230810.
    HOVERGENi HBG055341.
    InParanoidi Q6DN14.
    OMAi ERSETRH.
    PhylomeDBi Q6DN14.
    TreeFami TF323373.

    Miscellaneous databases

    GenomeRNAii 79772.
    NextBioi 69253.
    PROi Q6DN14.

    Gene expression databases

    ArrayExpressi Q6DN14.
    Bgeei Q6DN14.
    CleanExi HS_MCTP1.
    Genevestigatori Q6DN14.

    Family and domain databases

    Gene3Di 2.60.40.150. 3 hits.
    InterProi IPR000008. C2_dom.
    IPR013583. PRibTrfase_C.
    [Graphical view ]
    Pfami PF00168. C2. 3 hits.
    PF08372. PRT_C. 1 hit.
    [Graphical view ]
    PRINTSi PR00360. C2DOMAIN.
    SMARTi SM00239. C2. 3 hits.
    [Graphical view ]
    SUPFAMi SSF49562. SSF49562. 3 hits.
    PROSITEi PS50004. C2. 3 hits.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    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.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., 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.
      , Branscomb E., Caoile C., Challacombe J.F., Chan Y.M., Denys M., Detter J.C., Escobar J., Flowers D., Fotopulos D., Glavina T., Gomez M., Gonzales E., Goodstein D., Grigoriev I., Groza M., Hammon N., Hawkins T., Haydu L., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Lopez F., Lou Y., Martinez D., Medina C., Morgan J., Nandkeshwar R., Noonan J.P., Pitluck S., Pollard M., Predki P., Priest J., Ramirez L., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., Thayer N., Tice H., Tsai M., Ustaszewska A., Vo N., Wheeler J., Wu K., Yang J., Dickson M., Cheng J.-F., Eichler E.E., Olsen A., Pennacchio L.A., Rokhsar D.S., Richardson P., Lucas S.M., Myers R.M., 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.

    Entry informationi

    Entry nameiMCTP1_HUMAN
    AccessioniPrimary (citable) accession number: Q6DN14
    Secondary accession number(s): Q6DN13
    , Q8N2W1, Q8NBA2, Q96LX0, Q9H6E8
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: July 10, 2007
    Last sequence update: July 13, 2010
    Last modified: October 1, 2014
    This is version 87 of the entry and version 2 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny 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.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 5
      Human chromosome 5: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3