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Q6DN14

- MCTP1_HUMAN

UniProt

Q6DN14 - MCTP1_HUMAN

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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

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
Complete GO annotation...

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
Complete GO annotation...

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

BgeeiQ6DN14.
CleanExiHS_MCTP1.
ExpressionAtlasiQ6DN14. baseline and differential.
GenevestigatoriQ6DN14.

Organism-specific databases

HPAiHPA019018.

Structurei

3D structure databases

ProteinModelPortaliQ6DN14.
SMRiQ6DN14. Positions 261-746.
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.
GeneTreeiENSGT00550000074417.
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

        10         20         30         40         50
MEPRAAAAGE PEPPAASSSF QARLWKNLQL GVGRSKGGGG GRAGGPERRT
60 70 80 90 100
ADTPSPSPPP PVGTGNAPAR GSGAGSRWSG FKKRKQVLDR VFSSSQPNLC
110 120 130 140 150
CSSPEPLEPG GAGRAEQGST LRRRIREHLL PAVKGPAAAS GAAGGTPPGG
160 170 180 190 200
RSPDSAPSSS SASSSLSSSP QPPPRGDRAR DEGARRQGPG AHLCHQKSSS
210 220 230 240 250
LPGTACLEQL LEPPPPPAEP ARSPAESRAP ETGEEHGSSQ KIINTAGTSN
260 270 280 290 300
AEVPLADPGM YQLDITLRRG QSLAARDRGG TSDPYVKFKI GGKEVFRSKI
310 320 330 340 350
IHKNLNPVWE EKACILVDHL REPLYIKVFD YDFGLQDDFM GSAFLDLTQL
360 370 380 390 400
ELNRPTDVTL TLKDPHYPDH DLGIILLSVI LTPKEGESRD VTMLMRKSWK
410 420 430 440 450
RSSKELSENE VVGSYFSVKS LFWRTCGRPA LPVLGFCRAE LQNPYCKNVQ
460 470 480 490 500
FQTQSLRLSD LHRKSHLWRG IVSITLIEGR DLKAMDSNGL SDPYVKFRLG
510 520 530 540 550
HQKYKSKIMP KTLNPQWREQ FDFHLYEERG GVIDITAWDK DAGKRDDFIG
560 570 580 590 600
RCQVDLSALS REQTHKLELQ LEEGEGHLVL LVTLTASATV SISDLSVNSL
610 620 630 640 650
EDQKEREEIL KRYSPLRIFH NLKDVGFLQV KVIRAEGLMA ADVTGKSDPF
660 670 680 690 700
CVVELNNDRL LTHTVYKNLN PEWNKVFTFN IKDIHSVLEV TVYDEDRDRS
710 720 730 740 750
ADFLGKVAIP LLSIQNGEQK AYVLKNKQLT GPTKGVIYLE IDVIFNAVKA
760 770 780 790 800
SLRTLIPKEQ KYIEEENRLS KQLLLRNFIR MKRCVMVLVN AAYYVNSCFD
810 820 830 840 850
WDSPPRSLAA FVLFLFVVWN FELYMIPLVL LLLLTWNYFL IISGKDNRQR
860 870 880 890 900
DTVVEDMLED EEEEDDKDDK DSEKKGFINK IYAIQEVCVS VQNILDEVAS
910 920 930 940 950
FGERIKNTFN WTVPFLSWLA IVALCVFTAI LYCIPLRYIV LVWGINKFTK
960 970 980 990
KLRSPYAIDN NELLDFLSRV PSDVQVVQYQ ELKPDPSHSP YKRKKNNLG
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]
CCDS75275.1. [Q6DN14-3]
RefSeqiNP_001002796.1. NM_001002796.3. [Q6DN14-2]
NP_078993.4. NM_024717.5. [Q6DN14-1]
UniGeneiHs.591248.
Hs.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 ]
CCDS75275.1. [Q6DN14-3 ]
RefSeqi NP_001002796.1. NM_001002796.3. [Q6DN14-2 ]
NP_078993.4. NM_024717.5. [Q6DN14-1 ]
UniGenei Hs.591248.
Hs.655087.

3D structure databases

ProteinModelPortali Q6DN14.
SMRi Q6DN14. Positions 261-746.
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.
GeneTreei ENSGT00550000074417.
HOGENOMi HOG000230810.
HOVERGENi HBG055341.
InParanoidi Q6DN14.
OMAi ERSETRH.
PhylomeDBi Q6DN14.
TreeFami TF323373.

Miscellaneous databases

GenomeRNAii 79772.
NextBioi 69253.
PROi Q6DN14.

Gene expression databases

Bgeei Q6DN14.
CleanExi HS_MCTP1.
ExpressionAtlasi Q6DN14. baseline and differential.
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

« Hide 'large scale' publications
  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 29, 2014
This is version 88 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