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Protein

Multiple C2 and transmembrane domain-containing protein 1

Gene

MCTP1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-Experimental evidence at transcript leveli

Functioni

Cofactori

Ca2+1 PublicationNote: Binds Ca2+ via the C2 domains in absence of phospholipids.1 Publication

GO - Molecular functioni

  • calcium ion binding Source: HGNC

GO - Biological processi

  • 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
Proteomesi
  • UP000005640 Componenti: Chromosome 5

Organism-specific databases

HGNCiHGNC:26183. MCTP1.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transmembranei811 – 831HelicalSequence analysisAdd BLAST21
Transmembranei914 – 934HelicalSequence analysisAdd BLAST21

GO - Cellular componenti

  • endoplasmic reticulum Source: GO_Central
  • integral component of membrane Source: HGNC
Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Organism-specific databases

DisGeNETi79772.
OpenTargetsiENSG00000175471.
PharmGKBiPA142671472.

Polymorphism and mutation databases

BioMutaiMCTP1.
DMDMi300669650.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002944711 – 999Multiple C2 and transmembrane domain-containing protein 1Add BLAST999

Proteomic databases

MaxQBiQ6DN14.
PaxDbiQ6DN14.
PeptideAtlasiQ6DN14.
PRIDEiQ6DN14.

PTM databases

iPTMnetiQ6DN14.
PhosphoSitePlusiQ6DN14.

Expressioni

Gene expression databases

BgeeiENSG00000175471.
CleanExiHS_MCTP1.
ExpressionAtlasiQ6DN14. baseline and differential.
GenevisibleiQ6DN14. HS.

Organism-specific databases

HPAiHPA019018.

Interactioni

Protein-protein interaction databases

STRINGi9606.ENSP00000424126.

Structurei

3D structure databases

ProteinModelPortaliQ6DN14.
SMRiQ6DN14.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini248 – 344C2 1PROSITE-ProRule annotationAdd BLAST97
Domaini457 – 553C2 2PROSITE-ProRule annotationAdd BLAST97
Domaini613 – 708C2 3PROSITE-ProRule annotationAdd BLAST96

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi152 – 169Ser-richAdd BLAST18

Sequence similaritiesi

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

Keywords - Domaini

Repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG1030. Eukaryota.
COG5038. LUCA.
GeneTreeiENSGT00550000074417.
HOGENOMiHOG000230810.
HOVERGENiHBG055341.
InParanoidiQ6DN14.
OMAiCIPLRYI.
OrthoDBiEOG091G02XX.
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. AlignAdd to basket

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)DescriptionActionsGraphical viewLength
Sequence conflicti195H → R in AAT73058 (PubMed:15528213).Curated1
Sequence conflicti215P → A in AAT73058 (PubMed:15528213).Curated1
Sequence conflicti727K → R in BAB15311 (PubMed:14702039).Curated1
Sequence conflicti907N → S in BAB15311 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_033189612R → K.2 PublicationsCorresponds to variant rs9885412dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0266551 – 484Missing in isoform 5. 1 PublicationAdd BLAST484
Alternative sequenceiVSP_0266561 – 221Missing in isoform 2, isoform 3 and isoform 4. 3 PublicationsAdd BLAST221
Alternative sequenceiVSP_026657222 – 240RSPAE…HGSSQ → MLDSCKLKSACNLPFICNK in isoform 2, isoform 3 and isoform 4. 3 PublicationsAdd BLAST19
Alternative sequenceiVSP_026658405 – 450Missing in isoform 3. 1 PublicationAdd BLAST46
Alternative sequenceiVSP_026659813 – 852Missing in isoform 3. 1 PublicationAdd BLAST40
Alternative sequenceiVSP_026660813 – 821LFLFVVWNF → ALYGTFINV in isoform 4. 1 Publication9
Alternative sequenceiVSP_026661822 – 999Missing in isoform 4. 1 PublicationAdd BLAST178

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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_001284706.1. NM_001297777.1. [Q6DN14-3]
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.4. human. [Q6DN14-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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_001284706.1. NM_001297777.1. [Q6DN14-3]
NP_078993.4. NM_024717.5. [Q6DN14-1]
UniGeneiHs.591248.
Hs.655087.

3D structure databases

ProteinModelPortaliQ6DN14.
SMRiQ6DN14.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

STRINGi9606.ENSP00000424126.

PTM databases

iPTMnetiQ6DN14.
PhosphoSitePlusiQ6DN14.

Polymorphism and mutation databases

BioMutaiMCTP1.
DMDMi300669650.

Proteomic databases

MaxQBiQ6DN14.
PaxDbiQ6DN14.
PeptideAtlasiQ6DN14.
PRIDEiQ6DN14.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

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.4. human. [Q6DN14-1]

Organism-specific databases

CTDi79772.
DisGeNETi79772.
GeneCardsiMCTP1.
H-InvDBHIX0005040.
HIX0120991.
HGNCiHGNC:26183. MCTP1.
HPAiHPA019018.
MIMi616296. gene.
neXtProtiNX_Q6DN14.
OpenTargetsiENSG00000175471.
PharmGKBiPA142671472.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1030. Eukaryota.
COG5038. LUCA.
GeneTreeiENSGT00550000074417.
HOGENOMiHOG000230810.
HOVERGENiHBG055341.
InParanoidiQ6DN14.
OMAiCIPLRYI.
OrthoDBiEOG091G02XX.
PhylomeDBiQ6DN14.
TreeFamiTF323373.

Miscellaneous databases

ChiTaRSiMCTP1. human.
GenomeRNAii79772.
PROiQ6DN14.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000175471.
CleanExiHS_MCTP1.
ExpressionAtlasiQ6DN14. baseline and differential.
GenevisibleiQ6DN14. HS.

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]
ProtoNetiSearch...

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: November 2, 2016
This is version 105 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. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.