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UniProtKB - Q6ZXV5 (TMTC3_HUMAN)

Entry version 143 (29 Sep 2021)
Sequence version 2 (20 Mar 2007)
Previous versions | rss
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Protein

Protein O-mannosyl-transferase TMTC3

Gene

TMTC3

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 protein 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

Transfers mannosyl residues to the hydroxyl group of serine or threonine residues. The 4 members of the TMTC family are O-mannosyl-transferases dedicated primarily to the cadherin superfamily, each member seems to have a distinct role in decorating the cadherin domains with O-linked mannose glycans at specific regions. Also acts as O-mannosyl-transferase on other proteins such as PDIA3 (PubMed:28973932).

Involved in the positive regulation of proteasomal protein degradation in the endoplasmic reticulum (ER), and the control of ER stress response.

2 Publications

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section describes the metabolic pathway(s) associated with a protein.<p><a href='/help/pathway' target='_top'>More...</a></p>Pathwayi: protein glycosylation

This protein is involved in the pathway protein glycosylation, which is part of Protein modification.1 Publication
View all proteins of this organism that are known to be involved in the pathway protein glycosylation and in Protein modification.

<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

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<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

Molecular functionTransferase

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q6ZXV5

UniPathway: a resource for the exploration and annotation of metabolic pathways

More...UniPathwayi		UPA00378

Protein family/group databases

Transport Classification Database

More...TCDBi		8.A.95.1.1, the transmembrane and tpr repeat-containing protein 3 (tmtc3) family

<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_and_taxonomy_section">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:
Protein O-mannosyl-transferase TMTC3Curated (EC:2.4.1.1091 Publication)
Alternative name(s):
Protein SMILE1 Publication
Transmembrane and TPR repeat-containing protein 3Imported
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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:TMTC3Imported
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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_manual">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 12

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:26899, TMTC3

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		617218, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q6ZXV5

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000139324

<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

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'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>Transmembranei9 – 29HelicalSequence analysisAdd BLAST21
Transmembranei94 – 114HelicalSequence analysisAdd BLAST21
Transmembranei136 – 158HelicalSequence analysisAdd BLAST23
Transmembranei167 – 187HelicalSequence analysisAdd BLAST21
Transmembranei194 – 214HelicalSequence analysisAdd BLAST21
Transmembranei232 – 252HelicalSequence analysisAdd BLAST21
Transmembranei318 – 338HelicalSequence analysisAdd BLAST21
Transmembranei354 – 374HelicalSequence analysisAdd BLAST21
Transmembranei377 – 397HelicalSequence analysisAdd BLAST21

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane

<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

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Lissencephaly 8 (LIS8)1 Publication
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA form of lissencephaly, a disorder of cortical development characterized by agyria or pachygyria and disorganization of the clear neuronal lamination of normal six-layered cortex. LIS8 patients manifest delayed psychomotor development, intellectual disability with poor or absent speech, early-onset refractory seizures, hypotonia, cortical gyral abnormalities, and hypoplasia of the corpus callosum, brainstem and cerebellum. LIS8 inheritance is autosomal recessive.
Related information in OMIM
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_07790067H → D in LIS8. 1 Publication1
Natural variantiVAR_077901384G → E in LIS8. 1 Publication1

Keywords - Diseasei

Disease variant, Lissencephaly

Organism-specific databases

DisGeNET

More...DisGeNETi		160418

MalaCards human disease database

More...MalaCardsi		TMTC3
MIMi617255, phenotype

Open Targets

More...OpenTargetsi		ENSG00000139324

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		98892, Periventricular nodular heterotopia

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA142670720

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q6ZXV5, Tdark

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		TMTC3

Domain mapping of disease mutations (DMDM)

More...DMDMi		134035047

<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_00002802931 – 915Protein O-mannosyl-transferase TMTC3Add BLAST915

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi117N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi494N-linked (GlcNAc...) asparagineSequence analysis1
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei503PhosphotyrosineCombined sources1
Glycosylationi541N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Glycoprotein, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q6ZXV5

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q6ZXV5

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q6ZXV5

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q6ZXV5

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

More...PaxDbi		Q6ZXV5

PeptideAtlas

More...PeptideAtlasi		Q6ZXV5

PRoteomics IDEntifications database

More...PRIDEi		Q6ZXV5

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		68498 [Q6ZXV5-1]
68499 [Q6ZXV5-2]

PTM databases

GlyGen: Computational and Informatics Resources for Glycoscience

More...GlyGeni		Q6ZXV5, 5 sites, 2 N-linked glycans (1 site), 1 O-linked glycan (1 site)

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q6ZXV5

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

More...PhosphoSitePlusi		Q6ZXV5

SwissPalm database of S-palmitoylation events

More...SwissPalmi		Q6ZXV5

<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		ENSG00000139324, Expressed in endothelial cell and 216 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q6ZXV5, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q6ZXV5, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000139324, Low tissue specificity

<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

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		127757, 58 interactors

Protein interaction database and analysis system

More...IntActi		Q6ZXV5, 18 interactors

Molecular INTeraction database

More...MINTi		Q6ZXV5

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000266712

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q6ZXV5, 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		Q6ZXV5

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 'Family and Domains' section indicates the positions and types of repeated sequence motifs or repeated domains within the protein.<p><a href='/help/repeat' target='_top'>More...</a></p>Repeati412 – 445TPR 1Add BLAST34
Repeati446 – 479TPR 2Add BLAST34
Repeati481 – 513TPR 3Add BLAST33
Repeati528 – 562TPR 4Add BLAST35
Repeati563 – 596TPR 5Add BLAST34
Repeati597 – 631TPR 6Add BLAST35
Repeati669 – 702TPR 7Add BLAST34
Repeati704 – 736TPR 8Add BLAST33
Repeati737 – 771TPR 9Add BLAST35
Repeati773 – 805TPR 10Add BLAST33

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni848 – 892DisorderedSequence analysisAdd BLAST45

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 type of amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi856 – 874Polar residuesSequence analysisAdd BLAST19
Compositional biasi875 – 892Basic and acidic residuesSequence analysisAdd 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 TMTC family.Curated

Keywords - Domaini

Repeat, TPR repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG1124, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00940000157538

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_011615_1_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q6ZXV5

Identification of Orthologs from Complete Genome Data

More...OMAi		SDYVQAY

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q6ZXV5

TreeFam database of animal gene trees

More...TreeFami		TF328339

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		1.25.40.10, 4 hits

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR013618, DUF1736
IPR011990, TPR-like_helical_dom_sf
IPR019734, TPR_repeat

Pfam protein domain database

More...Pfami		View protein in Pfam
PF08409, DUF1736, 1 hit
PF13174, TPR_6, 1 hit
PF13181, TPR_8, 3 hits

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00028, TPR, 9 hits

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF48452, SSF48452, 2 hits

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS50005, TPR, 9 hits
PS50293, TPR_REGION, 1 hit

<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_length">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 (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">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 2 <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.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q6ZXV5-1) [UniParc]FASTAAdd to basket

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
MANINLKEIT LIVGVVTACY WNSLFCGFVF DDVSAILDNK DLHPSTPLKT 
        60         70         80         90        100
LFQNDFWGTP MSEERSHKSY RPLTVLTFRL NYLLSELKPM SYHLLNMIFH 
       110        120        130        140        150
AVVSVIFLKV CKLFLDNKSS VIASLLFAVH PIHTEAVTGV VGRAELLSSI 
       160        170        180        190        200
FFLAAFLSYT RSKGPDNSII WTPIALTVFL VAVATLCKEQ GITVVGICCV 
       210        220        230        240        250
YEVFIAQGYT LPLLCTTAGQ FLRGKGSIPF SMLQTLVKLI VLMFSTLLLV 
       260        270        280        290        300
VIRVQVIQSQ LPVFTRFDNP AAVSPTPTRQ LTFNYLLPVN AWLLLNPSEL 
       310        320        330        340        350
CCDWTMGTIP LIESLLDIRN LATFTFFCFL GMLGVFSIRY SGDSSKTVLM 
       360        370        380        390        400
ALCLMALPFI PASNLFFPVG FVVAERVLYV PSMGFCILVA HGWQKISTKS 
       410        420        430        440        450
VFKKLSWICL SMVILTHSLK TFHRNWDWES EYTLFMSALK VNKNNAKLWN 
       460        470        480        490        500
NVGHALENEK NFERALKYFL QATHVQPDDI GAHMNVGRTY KNLNRTKEAE 
       510        520        530        540        550
ESYMMAKSLM PQIIPGKKYA ARIAPNHLNV YINLANLIRA NESRLEEADQ 
       560        570        580        590        600
LYRQAISMRP DFKQAYISRG ELLLKMNKPL KAKEAYLKAL ELDRNNADLW 
       610        620        630        640        650
YNLAIVHIEL KEPNEALKKN FNRALELNPK HKLALFNSAI VMQESGEVKL 
       660        670        680        690        700
RPEARKRLLS YINEEPLDAN GYFNLGMLAM DDKKDNEAEI WMKKAIKLQA 
       710        720        730        740        750
DFRSALFNLA LLYSQTAKEL KALPILEELL RYYPDHIKGL ILKGDILMNQ 
       760        770        780        790        800
KKDILGAKKC FERILEMDPS NVQGKHNLCV VYFEEKDLLK AERCLLETLA 
       810        820        830        840        850
LAPHEEYIQR HLNIVRDKIS SSSFIEPIFP TSKISSVEGK KIPTESVKEI 
       860        870        880        890        900
RGESRQTQIV KTSDNKSQSK SNKQLGKNGD EETPHKTTKD IKEIEKKRVA 
       910 
ALKRLEEIER ILNGE
Length:915
Mass (Da):104,009
Last modified:March 20, 2007 - 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:i2B6787CE1B7CB83C
GO
Isoform 2 (identifier: Q6ZXV5-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     618-618: Missing.

Show »
Length:914
Mass (Da):103,881
Checksum:i45BD2C36C36B9E1D
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 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
F8VRY4F8VRY4_HUMAN
Protein O-mannosyl-transferase TMTC...
TMTC3
406Annotation 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>
F8W044F8W044_HUMAN
Protein O-mannosyl-transferase TMTC...
TMTC3
148Annotation 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>
F8VR71F8VR71_HUMAN
Protein O-mannosyl-transferase TMTC...
TMTC3
145Annotation 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>

<p>This subsection of the 'Sequence' section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence BAC11325 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated

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 conflicti120S → R in CAH18164 (PubMed:17974005).Curated1
Sequence conflicti158S → P in BAC11325 (PubMed:15489334).Curated1
Sequence conflicti201Y → C in BAC11325 (PubMed:15489334).Curated1
Sequence conflicti348V → G in CAD98046 (PubMed:17974005).Curated1
Sequence conflicti489T → A in CAH18100 (PubMed:17974005).Curated1
Sequence conflicti538I → V in CAI45938 (PubMed:17974005).Curated1
Sequence conflicti639A → V in CAD98046 (PubMed:17974005).Curated1
Sequence conflicti864D → N in CAD98046 (PubMed:17974005).Curated1
Sequence conflicti883T → A in CAD98046 (PubMed:17974005).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07790067H → D in LIS8. 1 Publication1
Natural variantiVAR_077901384G → E in LIS8. 1 Publication1

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_023619618Missing in isoform 2. 4 Publications1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
Links Updated
AJ697717 mRNA Translation: CAG26973.1
BX538169 mRNA Translation: CAD98046.1
CR749244 mRNA Translation: CAH18100.1
CR749309 mRNA Translation: CAH18164.1
CR933632 mRNA Translation: CAI45938.1
CR936640 mRNA Translation: CAI56780.1
BC117175 mRNA Translation: AAI17176.1
BC117177 mRNA Translation: AAI17178.1
AK074973 mRNA Translation: BAC11325.1 Different initiation.

The Consensus CDS (CCDS) project

More...CCDSi		CCDS9032.1 [Q6ZXV5-2]

NCBI Reference Sequences

More...RefSeqi		NP_861448.2, NM_181783.3 [Q6ZXV5-2]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000266712; ENSP00000266712; ENSG00000139324 [Q6ZXV5-2]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		160418

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:160418

UCSC genome browser

More...UCSCi		uc001tau.3, human [Q6ZXV5-1]

Keywords - Coding sequence diversityi

Alternative splicing

<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
AJ697717 mRNA Translation: CAG26973.1
BX538169 mRNA Translation: CAD98046.1
CR749244 mRNA Translation: CAH18100.1
CR749309 mRNA Translation: CAH18164.1
CR933632 mRNA Translation: CAI45938.1
CR936640 mRNA Translation: CAI56780.1
BC117175 mRNA Translation: AAI17176.1
BC117177 mRNA Translation: AAI17178.1
AK074973 mRNA Translation: BAC11325.1 Different initiation.
CCDSiCCDS9032.1 [Q6ZXV5-2]
RefSeqiNP_861448.2, NM_181783.3 [Q6ZXV5-2]

3D structure databases

SMRiQ6ZXV5
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi127757, 58 interactors
IntActiQ6ZXV5, 18 interactors
MINTiQ6ZXV5
STRINGi9606.ENSP00000266712

Protein family/group databases

TCDBi8.A.95.1.1, the transmembrane and tpr repeat-containing protein 3 (tmtc3) family

PTM databases

GlyGeniQ6ZXV5, 5 sites, 2 N-linked glycans (1 site), 1 O-linked glycan (1 site)
iPTMnetiQ6ZXV5
PhosphoSitePlusiQ6ZXV5
SwissPalmiQ6ZXV5

Genetic variation databases

BioMutaiTMTC3
DMDMi134035047

Proteomic databases

EPDiQ6ZXV5
jPOSTiQ6ZXV5
MassIVEiQ6ZXV5
MaxQBiQ6ZXV5
PaxDbiQ6ZXV5
PeptideAtlasiQ6ZXV5
PRIDEiQ6ZXV5
ProteomicsDBi68498 [Q6ZXV5-1]
68499 [Q6ZXV5-2]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		52318, 22 antibodies

The DNASU plasmid repository

More...DNASUi		160418

Genome annotation databases

EnsembliENST00000266712; ENSP00000266712; ENSG00000139324 [Q6ZXV5-2]
GeneIDi160418
KEGGihsa:160418
UCSCiuc001tau.3, human [Q6ZXV5-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		160418
DisGeNETi160418

GeneCards: human genes, protein and diseases

More...GeneCardsi		TMTC3
HGNCiHGNC:26899, TMTC3
HPAiENSG00000139324, Low tissue specificity
MalaCardsiTMTC3
MIMi617218, gene
617255, phenotype
neXtProtiNX_Q6ZXV5
OpenTargetsiENSG00000139324
Orphaneti98892, Periventricular nodular heterotopia
PharmGKBiPA142670720
VEuPathDBiHostDB:ENSG00000139324

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG1124, Eukaryota
GeneTreeiENSGT00940000157538
HOGENOMiCLU_011615_1_0_1
InParanoidiQ6ZXV5
OMAiSDYVQAY
PhylomeDBiQ6ZXV5
TreeFamiTF328339

Enzyme and pathway databases

UniPathwayiUPA00378
PathwayCommonsiQ6ZXV5

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		160418, 14 hits in 1019 CRISPR screens

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

More...ChiTaRSi		TMTC3, human

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

More...GenomeRNAii		160418
PharosiQ6ZXV5, Tdark

Protein Ontology

More...PROi		PR:Q6ZXV5
RNActiQ6ZXV5, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000139324, Expressed in endothelial cell and 216 other tissues
ExpressionAtlasiQ6ZXV5, baseline and differential
GenevisibleiQ6ZXV5, HS

Family and domain databases

Gene3Di1.25.40.10, 4 hits
InterProiView protein in InterPro
IPR013618, DUF1736
IPR011990, TPR-like_helical_dom_sf
IPR019734, TPR_repeat
PfamiView protein in Pfam
PF08409, DUF1736, 1 hit
PF13174, TPR_6, 1 hit
PF13181, TPR_8, 3 hits
SMARTiView protein in SMART
SM00028, TPR, 9 hits
SUPFAMiSSF48452, SSF48452, 2 hits
PROSITEiView protein in PROSITE
PS50005, TPR, 9 hits
PS50293, TPR_REGION, 1 hit

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 nameiTMTC3_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: Q6ZXV5
Secondary accession number(s): Q5CZ86
, Q5H9T6, Q68DQ6, Q68DX0, Q7Z332, Q8NC50
<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_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: March 20, 2007
Last sequence update: March 20, 2007
Last modified: September 29, 2021
This is version 143 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. Human chromosome 12
    Human chromosome 12: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  6. SIMILARITY comments
    Index of protein domains and families
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