Skip Header

You are using a version of Internet Explorer that may not display all features of this website. Please upgrade to a modern browser.
Contribute Send feedback
Read comments (?) or add your own

Q6DN14 (MCTP1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 83. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (4) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Multiple C2 and transmembrane domain-containing protein 1
Gene names
Name:MCTP1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length999 AA.
Sequence statusComplete.
Protein existenceEvidence 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 componentMembrane
   Coding sequence diversityAlternative splicing
Polymorphism
   DomainRepeat
Transmembrane
Transmembrane helix
   LigandCalcium
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processcalcium-mediated signaling

Non-traceable author statement Ref.1. Source: HGNC

   Cellular_componentintegral component of membrane

Inferred from direct assay Ref.1. Source: HGNC

   Molecular_functioncalcium 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 keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 999999Multiple C2 and transmembrane domain-containing protein 1
PRO_0000294471

Regions

Transmembrane811 – 83121Helical; Potential
Transmembrane914 – 93421Helical; Potential
Domain248 – 34497C2 1
Domain457 – 55397C2 2
Domain613 – 70896C2 3
Compositional bias152 – 16918Ser-rich

Natural variations

Alternative sequence1 – 484484Missing in isoform 5.
VSP_026655
Alternative sequence1 – 221221Missing in isoform 2, isoform 3 and isoform 4.
VSP_026656
Alternative sequence222 – 24019RSPAE…HGSSQ → MLDSCKLKSACNLPFICNK in isoform 2, isoform 3 and isoform 4.
VSP_026657
Alternative sequence405 – 45046Missing in isoform 3.
VSP_026658
Alternative sequence813 – 85240Missing in isoform 3.
VSP_026659
Alternative sequence813 – 8219LFLFVVWNF → ALYGTFINV in isoform 4.
VSP_026660
Alternative sequence822 – 999178Missing in isoform 4.
VSP_026661
Natural variant6121R → K. Ref.2 Ref.4
Corresponds to variant rs9885412 [ dbSNP | Ensembl ].
VAR_033189

Experimental info

Sequence conflict1951H → R in AAT73058. Ref.1
Sequence conflict2151P → A in AAT73058. Ref.1
Sequence conflict7271K → R in BAB15311. Ref.2
Sequence conflict9071N → S in BAB15311. Ref.2

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 (MCTP1L) [UniParc].

Last modified July 13, 2010. Version 2.
Checksum: 7AF1FC0ACDB3F599

FASTA999111,624
        10         20         30         40         50         60 
MEPRAAAAGE PEPPAASSSF QARLWKNLQL GVGRSKGGGG GRAGGPERRT ADTPSPSPPP 

        70         80         90        100        110        120 
PVGTGNAPAR GSGAGSRWSG FKKRKQVLDR VFSSSQPNLC CSSPEPLEPG GAGRAEQGST 

       130        140        150        160        170        180 
LRRRIREHLL PAVKGPAAAS GAAGGTPPGG RSPDSAPSSS SASSSLSSSP QPPPRGDRAR 

       190        200        210        220        230        240 
DEGARRQGPG AHLCHQKSSS LPGTACLEQL LEPPPPPAEP ARSPAESRAP ETGEEHGSSQ 

       250        260        270        280        290        300 
KIINTAGTSN AEVPLADPGM YQLDITLRRG QSLAARDRGG TSDPYVKFKI GGKEVFRSKI 

       310        320        330        340        350        360 
IHKNLNPVWE EKACILVDHL REPLYIKVFD YDFGLQDDFM GSAFLDLTQL ELNRPTDVTL 

       370        380        390        400        410        420 
TLKDPHYPDH DLGIILLSVI LTPKEGESRD VTMLMRKSWK RSSKELSENE VVGSYFSVKS 

       430        440        450        460        470        480 
LFWRTCGRPA LPVLGFCRAE LQNPYCKNVQ FQTQSLRLSD LHRKSHLWRG IVSITLIEGR 

       490        500        510        520        530        540 
DLKAMDSNGL SDPYVKFRLG HQKYKSKIMP KTLNPQWREQ FDFHLYEERG GVIDITAWDK 

       550        560        570        580        590        600 
DAGKRDDFIG RCQVDLSALS REQTHKLELQ LEEGEGHLVL LVTLTASATV SISDLSVNSL 

       610        620        630        640        650        660 
EDQKEREEIL KRYSPLRIFH NLKDVGFLQV KVIRAEGLMA ADVTGKSDPF CVVELNNDRL 

       670        680        690        700        710        720 
LTHTVYKNLN PEWNKVFTFN IKDIHSVLEV TVYDEDRDRS ADFLGKVAIP LLSIQNGEQK 

       730        740        750        760        770        780 
AYVLKNKQLT GPTKGVIYLE IDVIFNAVKA SLRTLIPKEQ KYIEEENRLS KQLLLRNFIR 

       790        800        810        820        830        840 
MKRCVMVLVN AAYYVNSCFD WDSPPRSLAA FVLFLFVVWN FELYMIPLVL LLLLTWNYFL 

       850        860        870        880        890        900 
IISGKDNRQR DTVVEDMLED EEEEDDKDDK DSEKKGFINK IYAIQEVCVS VQNILDEVAS 

       910        920        930        940        950        960 
FGERIKNTFN WTVPFLSWLA IVALCVFTAI LYCIPLRYIV LVWGINKFTK KLRSPYAIDN 

       970        980        990 
NELLDFLSRV PSDVQVVQYQ ELKPDPSHSP YKRKKNNLG 

« Hide

Isoform 2 (MCTP1S) [UniParc].

Checksum: A9E50FDDA42058E1
Show »

FASTA77889,501
Isoform 3 [UniParc].

Checksum: 2868E17C0AFED4B7
Show »

FASTA69279,381
Isoform 4 [UniParc].

Checksum: EEAC65E61D93EE16
Show »

FASTA60068,550
Isoform 5 [UniParc].

Checksum: A63F138E6FC63CA6
Show »

FASTA51559,615

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. expand/collapse author list , 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. expand/collapse author list , 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.
+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.
RefSeqNP_001002796.1. NM_001002796.2.
NP_078993.4. NM_024717.4.
XP_005272148.1. XM_005272091.2.
UniGeneHs.655087.

3D structure databases

ProteinModelPortalQ6DN14.
SMRQ6DN14. Positions 262-381, 414-775.
ModBaseSearch...
MobiDBSearch...

PTM databases

PhosphoSiteQ6DN14.

Polymorphism databases

DMDM300669650.

Proteomic databases

PaxDbQ6DN14.
PRIDEQ6DN14.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000312216; ENSP00000308957; ENSG00000175471. [Q6DN14-2]
ENST00000429576; ENSP00000391639; ENSG00000175471. [Q6DN14-3]
ENST00000505078; ENSP00000426417; ENSG00000175471. [Q6DN14-5]
ENST00000505208; ENSP00000426438; ENSG00000175471. [Q6DN14-4]
ENST00000515393; ENSP00000424126; ENSG00000175471. [Q6DN14-1]
ENST00000573142; ENSP00000458936; ENSG00000262742. [Q6DN14-2]
ENST00000573439; ENSP00000461049; ENSG00000262742. [Q6DN14-3]
ENST00000573975; ENSP00000458477; ENSG00000262742. [Q6DN14-4]
ENST00000574707; ENSP00000461062; ENSG00000262742. [Q6DN14-5]
ENST00000575480; ENSP00000460509; ENSG00000262742. [Q6DN14-1]
GeneID79772.
KEGGhsa:79772.
UCSCuc003kku.2. human. [Q6DN14-1]
uc003kkv.2. human. [Q6DN14-2]
uc003kkw.2. human. [Q6DN14-3]

Organism-specific databases

CTD79772.
GeneCardsGC05M094068.
H-InvDBHIX0005040.
HIX0120991.
HGNCHGNC:26183. MCTP1.
HPAHPA019018.
neXtProtNX_Q6DN14.
PharmGKBPA142671472.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG5038.
HOGENOMHOG000230810.
HOVERGENHBG055341.
InParanoidQ6DN14.
OMAMSDADSH.
PhylomeDBQ6DN14.
TreeFamTF323373.

Gene expression databases

ArrayExpressQ6DN14.
BgeeQ6DN14.
CleanExHS_MCTP1.
GenevestigatorQ6DN14.

Family and domain databases

Gene3D2.60.40.150. 3 hits.
InterProIPR000008. C2_dom.
IPR013583. PRibTrfase_C.
[Graphical view]
PfamPF00168. C2. 3 hits.
PF08372. PRT_C. 1 hit.
[Graphical view]
PRINTSPR00360. C2DOMAIN.
SMARTSM00239. C2. 3 hits.
[Graphical view]
SUPFAMSSF49562. SSF49562. 3 hits.
PROSITEPS50004. C2. 3 hits.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi79772.
NextBio69253.
PROQ6DN14.

Entry information

Entry nameMCTP1_HUMAN
AccessionPrimary (citable) accession number: Q6DN14
Secondary accession number(s): Q6DN13 expand/collapse secondary AC list , Q8N2W1, Q8NBA2, Q96LX0, Q9H6E8
Entry history
Integrated into UniProtKB/Swiss-Prot: July 10, 2007
Last sequence update: July 13, 2010
Last modified: April 16, 2014
This is version 83 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 5

Human chromosome 5: entries, gene names and cross-references to MIM