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Entry version 126 (17 Jun 2020)
Sequence version 2 (13 Jul 2010)
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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:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at transcript leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Calcium sensor which is essential for the stabilization of normal baseline neurotransmitter release and for the induction and long-term maintenance of presynaptic homeostatic plasticity.By similarity

<p>This subsection of the 'Function' section provides information relevant to cofactors. A cofactor is any non-protein substance required for a protein to be catalytically active. Some cofactors are inorganic, such as the metal atoms zinc, iron, and copper in various oxidation states. Others, such as most vitamins, are organic.<p><a href='/help/cofactor' target='_top'>More...</a></p>Cofactori

Ca2+PROSITE-ProRule annotation1 PublicationNote: Binds Ca2+ via the C2 domains in absence of phospholipids.1 Publication

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section indicates at which position the protein binds a given metal ion. The nature of the metal is indicated in the 'Description' field.<p><a href='/help/metal' target='_top'>More...</a></p>Metal bindingi277Calcium 1PROSITE-ProRule annotation1
Metal bindingi277Calcium 2PROSITE-ProRule annotation1
Metal bindingi283Calcium 1PROSITE-ProRule annotation1
Metal bindingi330Calcium 1PROSITE-ProRule annotation1
Metal bindingi330Calcium 2PROSITE-ProRule annotation1
Metal bindingi332Calcium 1PROSITE-ProRule annotation1
Metal bindingi332Calcium 2PROSITE-ProRule annotation1
Metal bindingi338Calcium 2PROSITE-ProRule annotation1
Metal bindingi486Calcium 3PROSITE-ProRule annotation1
Metal bindingi486Calcium 4PROSITE-ProRule annotation1
Metal bindingi492Calcium 3PROSITE-ProRule annotation1
Metal bindingi539Calcium 3PROSITE-ProRule annotation1
Metal bindingi539Calcium 4PROSITE-ProRule annotation1
Metal bindingi541Calcium 3PROSITE-ProRule annotation1
Metal bindingi541Calcium 4PROSITE-ProRule annotation1
Metal bindingi547Calcium 4PROSITE-ProRule annotation1
Metal bindingi642Calcium 5PROSITE-ProRule annotation1
Metal bindingi642Calcium 6PROSITE-ProRule annotation1
Metal bindingi648Calcium 5PROSITE-ProRule annotation1
Metal bindingi694Calcium 5PROSITE-ProRule annotation1
Metal bindingi694Calcium 6PROSITE-ProRule annotation1
Metal bindingi696Calcium 5PROSITE-ProRule annotation1
Metal bindingi696Calcium 6PROSITE-ProRule annotation1
Metal bindingi702Calcium 6PROSITE-ProRule annotation1

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

  • calcium ion binding Source: HGNC-UCL

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

LigandCalcium, Metal-binding

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Multiple C2 and transmembrane domain-containing protein 1
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:MCTP1
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 5

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000175471.19

Human Gene Nomenclature Database

More...
HGNCi
HGNC:26183 MCTP1

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
616296 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q6DN14

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei811 – 831HelicalSequence analysisAdd BLAST21
Transmembranei914 – 934HelicalSequence analysisAdd BLAST21

Keywords - Cellular componenti

Cell junction, Cytoplasmic vesicle, Endoplasmic reticulum, Endosome, Membrane, Synapse

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Organism-specific databases

DisGeNET

More...
DisGeNETi
79772

Open Targets

More...
OpenTargetsi
ENSG00000175471

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA142671472

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q6DN14 Tdark

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
MCTP1

Domain mapping of disease mutations (DMDM)

More...
DMDMi
300669650

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002944711 – 999Multiple C2 and transmembrane domain-containing protein 1Add BLAST999

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q6DN14

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q6DN14

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q6DN14

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q6DN14

PeptideAtlas

More...
PeptideAtlasi
Q6DN14

PRoteomics IDEntifications database

More...
PRIDEi
Q6DN14

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
66243 [Q6DN14-1]
66244 [Q6DN14-2]
66245 [Q6DN14-3]
66246 [Q6DN14-4]
66247 [Q6DN14-5]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q6DN14

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q6DN14

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000175471 Expressed in caudate nucleus and 193 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q6DN14 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q6DN14 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000175471 Tissue enhanced (adipose tissue, brain)

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

Protein-protein interaction databases

Protein interaction database and analysis system

More...
IntActi
Q6DN14, 1 interactor

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000424126

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
Q6DN14 protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...
SMRi
Q6DN14

Database of comparative protein structure models

More...
ModBasei
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family%5Fand%5Fdomains%5Fsection">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini242 – 360C2 1PROSITE-ProRule annotationAdd BLAST119
Domaini452 – 569C2 2PROSITE-ProRule annotationAdd BLAST118
Domaini603 – 724C2 3PROSITE-ProRule annotationAdd BLAST122

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi152 – 169Ser-richAdd BLAST18

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the MCTP family.Curated

Keywords - Domaini

Repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG1030 Eukaryota
COG5038 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000156031

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
CLU_011170_1_1_1

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q6DN14

Identification of Orthologs from Complete Genome Data

More...
OMAi
PYVKFRY

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q6DN14

TreeFam database of animal gene trees

More...
TreeFami
TF323373

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
2.60.40.150, 3 hits

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR000008 C2_dom
IPR035892 C2_domain_sf
IPR013583 PRibTrfase_C

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00168 C2, 3 hits
PF08372 PRT_C, 1 hit

Protein Motif fingerprint database; a protein domain database

More...
PRINTSi
PR00360 C2DOMAIN

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00239 C2, 3 hits

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS50004 C2, 3 hits

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (5+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 5 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 5 described isoforms and 8 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q6DN14-1) [UniParc]FASTAAdd to basket
Also known as: MCTP1L

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 8 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H0Y9Y6H0Y9Y6_HUMAN
Multiple C2 and transmembrane domai...
MCTP1
292Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
D6RA42D6RA42_HUMAN
Multiple C2 and transmembrane domai...
MCTP1
683Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0Y8M9H0Y8M9_HUMAN
Multiple C2 and transmembrane domai...
MCTP1
169Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
D6R8Z9D6R8Z9_HUMAN
Multiple C2 and transmembrane domai...
MCTP1
135Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
E5RJR1E5RJR1_HUMAN
Multiple C2 and transmembrane domai...
MCTP1
489Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0YA70H0YA70_HUMAN
Multiple C2 and transmembrane domai...
MCTP1
414Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0Y9S8H0Y9S8_HUMAN
Multiple C2 and transmembrane domai...
MCTP1
191Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
D6RC97D6RC97_HUMAN
Multiple C2 and transmembrane domai...
MCTP1
81Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>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
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_033189612R → K2 PublicationsCorresponds to variant dbSNP:rs9885412Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>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:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
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

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS34203.1 [Q6DN14-1]
CCDS47247.1 [Q6DN14-2]
CCDS75275.1 [Q6DN14-3]

NCBI Reference Sequences

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RefSeqi
NP_001002796.1, NM_001002796.3 [Q6DN14-2]
NP_001284706.1, NM_001297777.1 [Q6DN14-3]
NP_078993.4, NM_024717.5 [Q6DN14-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
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]

Database of genes from NCBI RefSeq genomes

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GeneIDi
79772

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:79772

UCSC genome browser

More...
UCSCi
uc003kku.4 human [Q6DN14-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>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]

3D structure databases

SMRiQ6DN14
ModBaseiSearch...

Protein-protein interaction databases

IntActiQ6DN14, 1 interactor
STRINGi9606.ENSP00000424126

PTM databases

iPTMnetiQ6DN14
PhosphoSitePlusiQ6DN14

Polymorphism and mutation databases

BioMutaiMCTP1
DMDMi300669650

Proteomic databases

EPDiQ6DN14
MassIVEiQ6DN14
MaxQBiQ6DN14
PaxDbiQ6DN14
PeptideAtlasiQ6DN14
PRIDEiQ6DN14
ProteomicsDBi66243 [Q6DN14-1]
66244 [Q6DN14-2]
66245 [Q6DN14-3]
66246 [Q6DN14-4]
66247 [Q6DN14-5]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...
Antibodypediai
2751 62 antibodies

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

Comparative Toxicogenomics Database

More...
CTDi
79772
DisGeNETi79772
EuPathDBiHostDB:ENSG00000175471.19

GeneCards: human genes, protein and diseases

More...
GeneCardsi
MCTP1
HGNCiHGNC:26183 MCTP1
HPAiENSG00000175471 Tissue enhanced (adipose tissue, brain)
MIMi616296 gene
neXtProtiNX_Q6DN14
OpenTargetsiENSG00000175471
PharmGKBiPA142671472

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG1030 Eukaryota
COG5038 LUCA
GeneTreeiENSGT00940000156031
HOGENOMiCLU_011170_1_1_1
InParanoidiQ6DN14
OMAiPYVKFRY
PhylomeDBiQ6DN14
TreeFamiTF323373

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...
BioGRID-ORCSi
79772 10 hits in 796 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
MCTP1 human

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
79772
PharosiQ6DN14 Tdark

Protein Ontology

More...
PROi
PR:Q6DN14
RNActiQ6DN14 protein

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000175471 Expressed in caudate nucleus and 193 other tissues
ExpressionAtlasiQ6DN14 baseline and differential
GenevisibleiQ6DN14 HS

Family and domain databases

Gene3Di2.60.40.150, 3 hits
InterProiView protein in InterPro
IPR000008 C2_dom
IPR035892 C2_domain_sf
IPR013583 PRibTrfase_C
PfamiView protein in Pfam
PF00168 C2, 3 hits
PF08372 PRT_C, 1 hit
PRINTSiPR00360 C2DOMAIN
SMARTiView protein in SMART
SM00239 C2, 3 hits
PROSITEiView protein in PROSITE
PS50004 C2, 3 hits

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiMCTP1_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q6DN14
Secondary accession number(s): Q6DN13
, Q8N2W1, Q8NBA2, Q96LX0, Q9H6E8
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 10, 2007
Last sequence update: July 13, 2010
Last modified: June 17, 2020
This is version 126 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  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. Human chromosome 5
    Human chromosome 5: entries, gene names and cross-references to MIM
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