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Entry version 142 (11 Dec 2019)
Sequence version 3 (21 Sep 2011)
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Protein

Protein O-mannosyl-transferase TMTC1

Gene

TMTC1

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 PDIA3.1 Publication

<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

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

Molecular functionTransferase

Enzyme and pathway databases

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

More...
UniPathwayi
UPA00378

<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 TMTC1Curated (EC:2.4.1.1091 Publication)
Alternative name(s):
Transmembrane and TPR repeat-containing protein 1Imported
<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:TMTC1Imported
ORF Names:ARG99
<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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<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

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000133687.15

Human Gene Nomenclature Database

More...
HGNCi
HGNC:24099 TMTC1

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
615855 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q8IUR5

<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_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>Transmembranei21 – 41HelicalSequence analysisAdd BLAST21
Transmembranei111 – 131HelicalSequence analysisAdd BLAST21
Transmembranei161 – 181HelicalSequence analysisAdd BLAST21
Transmembranei198 – 218HelicalSequence analysisAdd BLAST21
Transmembranei314 – 334HelicalSequence analysisAdd BLAST21
Transmembranei355 – 375HelicalSequence analysisAdd BLAST21
Transmembranei382 – 402HelicalSequence analysisAdd BLAST21
Transmembranei404 – 424HelicalSequence analysisAdd BLAST21
Transmembranei439 – 459HelicalSequence 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

Organism-specific databases

DisGeNET

More...
DisGeNETi
83857

Open Targets

More...
OpenTargetsi
ENSG00000133687

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA142670718

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q8IUR5 Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
TMTC1

Domain mapping of disease mutations (DMDM)

More...
DMDMi
347595775

<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.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002802881 – 882Protein O-mannosyl-transferase TMTC1Add BLAST882

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>Glycosylationi184N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q8IUR5

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q8IUR5

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q8IUR5

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

More...
PaxDbi
Q8IUR5

PeptideAtlas

More...
PeptideAtlasi
Q8IUR5

PRoteomics IDEntifications database

More...
PRIDEi
Q8IUR5

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
70599 [Q8IUR5-5]
70600 [Q8IUR5-1]
70601 [Q8IUR5-2]
70602 [Q8IUR5-3]
70603 [Q8IUR5-4]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q8IUR5

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

More...
PhosphoSitePlusi
Q8IUR5

<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
ENSG00000133687 Expressed in 205 organ(s), highest expression level in trigeminal ganglion

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q8IUR5 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q8IUR5 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA016720

<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 the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

May interact with FAM168B.

1 Publication

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
123773, 4 interactors

Protein interaction database and analysis system

More...
IntActi
Q8IUR5, 3 interactors

Molecular INTeraction database

More...
MINTi
Q8IUR5

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000442046

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
Q8IUR5 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
Q8IUR5

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>Repeati483 – 516TPR 1Add BLAST34
Repeati518 – 547TPR 2Add BLAST30
Repeati548 – 581TPR 3Add BLAST34
Repeati583 – 615TPR 4Add BLAST33
Repeati616 – 649TPR 5Add BLAST34
Repeati650 – 683TPR 6Add BLAST34
Repeati684 – 716TPR 7Add BLAST33
Repeati751 – 784TPR 8Add BLAST34
Repeati789 – 822TPR 9Add BLAST34
Repeati823 – 856TPR 10Add BLAST34

<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
COG0457 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000158027

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q8IUR5

KEGG Orthology (KO)

More...
KOi
K23424

Database of Orthologous Groups

More...
OrthoDBi
1320023at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q8IUR5

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, 5 hits

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR013618 DUF1736
IPR003107 HAT
IPR013026 TPR-contain_dom
IPR011990 TPR-like_helical_dom_sf
IPR013105 TPR_2
IPR019734 TPR_repeat

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF08409 DUF1736, 1 hit
PF07719 TPR_2, 1 hit
PF13181 TPR_8, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00386 HAT, 3 hits
SM00028 TPR, 10 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, 10 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 (5+)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 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.<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 3 potential isoforms that are computationally mapped.Show allAlign All

Isoform 5 (identifier: Q8IUR5-5) [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
MVVTTSARGG GGDRTPSRRR GCGLAPAGAA ALLAGASCLC YGRSLQGEFV
60 70 80 90 100
HDDVWAIVNN PDVRPGAPLR WGIFTNDFWG KGMAENTSHK SYRPLCVLTF
110 120 130 140 150
KLNIFLTGMN PFYFHAVNII LHCLVTLVLM YTCDKTVFKN RGLAFVTALL
160 170 180 190 200
FAVHPIHTEA VAGIVGRADV LACLLFLLAF LSYNRSLDQG CVGGSFPSTV
210 220 230 240 250
SPFFLLLSLF LGTCAMLVKE TGITVFGVCL VYDLFSLSNK QDKSSNGALC
260 270 280 290 300
PRSPQQPGSP QPSSLPGHPH RENGKQQRFP HKGAWGGCHS PLPPEPKSSG
310 320 330 340 350
FPVSPRAVWS MMRFLTYSYL LAFNVWLLLA PVTLCYDWQV GSIPLVETIW
360 370 380 390 400
DMRNLATIFL AVVMALLSLH CLAAFKRLEH KEVLVGLLFL VFPFIPASNL
410 420 430 440 450
FFRVGFVVAE RVLYMPSMGY CILFVHGLSK LCTWLNRCGA TTLIVSTVLL
460 470 480 490 500
LLLFSWKTVK QNEIWLSRES LFRSGVQTLP HNAKVHYNYA NFLKDQGRNK
510 520 530 540 550
EAIYHYRTAL KLYPRHASAL NNLGTLTRDT AEAKMYYQRA LQLHPQHNRA
560 570 580 590 600
LFNLGNLLKS QEKKEEAITL LKDSIKYGPE FADAYSSLAS LLAEQERFKE
610 620 630 640 650
AEEIYQTGIK NCPDSSDLHN NYGVFLVDTG LPEKAVAHYQ QAIKLSPSHH
660 670 680 690 700
VAMVNLGRLY RSLGENSMAE EWYKRALQVA HKAEILSPLG ALYYNTGRYE
710 720 730 740 750
EALQIYQEAA ALQPSQRELR LALAQVLAVM GQTKEAEKMT NHIVSEETGC
760 770 780 790 800
LECYRLLSAI YSKQENHDKA LDAIDKALQL KPKDPKVISE LFFTKGNQLR
810 820 830 840 850
EQNLLDKAFE SYRVAVQLNP DQAQAWMNMG GIQHIKGKYV SARAYYERAL
860 870 880
QLVPDSKLLK ENLAKLDRLE KRLQEVREKD QT
Length:882
Mass (Da):98,847
Last modified:September 21, 2011 - v3
<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:i5E4E0B1453C8AAC0
GO
Isoform 1 (identifier: Q8IUR5-1) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-108: Missing.

Show »
Length:774
Mass (Da):87,338
Checksum:i581E5B9CF1EECDC1
GO
Isoform 2 (identifier: Q8IUR5-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-237: Missing.
     238-312: SNKQDKSSNG...VSPRAVWSMM → MTKQDSASKK...PASFSPYILT

Show »
Length:645
Mass (Da):73,982
Checksum:i7921799C6F773F78
GO
Isoform 3 (identifier: Q8IUR5-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-108: Missing.
     312-312: M → MRYLRASSNRNFLLTMRPFLKRAILVLSYVLVILYFRLWIMGGSMPLFSEQDNPASFSPYILT
     596-620: ERFKEAEEIYQTGIKNCPDSSDLHN → VIVSHSSFFQCYCYMYKLMLHRFLY
     621-882: Missing.

Show »
Length:574
Mass (Da):65,021
Checksum:i53A7A270B3437DB9
GO
Isoform 4 (identifier: Q8IUR5-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-652: Missing.
     672-675: WYKR → C

Show »
Length:227
Mass (Da):25,859
Checksum:i3357413F194C2B78
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
F8VTQ9F8VTQ9_HUMAN
Protein O-mannosyl-transferase TMTC...
TMTC1
944Annotation score:

Annotation score:2 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>
F8VXU8F8VXU8_HUMAN
Protein O-mannosyl-transferase TMTC...
TMTC1
906Annotation 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>
H0YIB9H0YIB9_HUMAN
Protein O-mannosyl-transferase TMTC...
TMTC1
130Annotation 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 AAK32121 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated

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_031112814V → L1 PublicationCorresponds to variant dbSNP:rs17854190Ensembl.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_0236111 – 652Missing in isoform 4. 1 PublicationAdd BLAST652
Alternative sequenceiVSP_0236121 – 237Missing in isoform 2. 1 PublicationAdd BLAST237
Alternative sequenceiVSP_0418231 – 108Missing in isoform 1 and isoform 3. 2 PublicationsAdd BLAST108
Alternative sequenceiVSP_023613238 – 312SNKQD…VWSMM → MTKQDSASKKKKKRYLRASS NRNFLLTMRPFLKRAILVLS YVLVILYFRLWIMGGSMPLF SEQDNPASFSPYILT in isoform 2. 1 PublicationAdd BLAST75
Alternative sequenceiVSP_023614312M → MRYLRASSNRNFLLTMRPFL KRAILVLSYVLVILYFRLWI MGGSMPLFSEQDNPASFSPY ILT in isoform 3. 1 Publication1
Alternative sequenceiVSP_023615596 – 620ERFKE…SDLHN → VIVSHSSFFQCYCYMYKLML HRFLY in isoform 3. 1 PublicationAdd BLAST25
Alternative sequenceiVSP_023616621 – 882Missing in isoform 3. 1 PublicationAdd BLAST262
Alternative sequenceiVSP_023617672 – 675WYKR → C in isoform 4. 1 Publication4

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
GQ865601 mRNA Translation: ACX30004.1
AK055962 mRNA Translation: BAB71057.1
AK127297 mRNA Translation: BAC86923.1
AC009320 Genomic DNA No translation available.
AC009510 Genomic DNA No translation available.
AC012151 Genomic DNA No translation available.
AC022078 Genomic DNA No translation available.
BC028716 mRNA Translation: AAH28716.1
BC042083 mRNA Translation: AAH42083.1
AF319520 mRNA Translation: AAK32121.1 Different initiation.

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS53772.1 [Q8IUR5-5]
CCDS8718.1 [Q8IUR5-1]

NCBI Reference Sequences

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RefSeqi
NP_001180380.1, NM_001193451.1 [Q8IUR5-5]
NP_787057.2, NM_175861.3 [Q8IUR5-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000256062; ENSP00000256062; ENSG00000133687 [Q8IUR5-1]
ENST00000539277; ENSP00000442046; ENSG00000133687 [Q8IUR5-5]

Database of genes from NCBI RefSeq genomes

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GeneIDi
83857

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:83857

UCSC genome browser

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UCSCi
uc001rjb.4 human [Q8IUR5-5]

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
GQ865601 mRNA Translation: ACX30004.1
AK055962 mRNA Translation: BAB71057.1
AK127297 mRNA Translation: BAC86923.1
AC009320 Genomic DNA No translation available.
AC009510 Genomic DNA No translation available.
AC012151 Genomic DNA No translation available.
AC022078 Genomic DNA No translation available.
BC028716 mRNA Translation: AAH28716.1
BC042083 mRNA Translation: AAH42083.1
AF319520 mRNA Translation: AAK32121.1 Different initiation.
CCDSiCCDS53772.1 [Q8IUR5-5]
CCDS8718.1 [Q8IUR5-1]
RefSeqiNP_001180380.1, NM_001193451.1 [Q8IUR5-5]
NP_787057.2, NM_175861.3 [Q8IUR5-1]

3D structure databases

SMRiQ8IUR5
ModBaseiSearch...

Protein-protein interaction databases

BioGridi123773, 4 interactors
IntActiQ8IUR5, 3 interactors
MINTiQ8IUR5
STRINGi9606.ENSP00000442046

PTM databases

iPTMnetiQ8IUR5
PhosphoSitePlusiQ8IUR5

Polymorphism and mutation databases

BioMutaiTMTC1
DMDMi347595775

Proteomic databases

EPDiQ8IUR5
jPOSTiQ8IUR5
MassIVEiQ8IUR5
PaxDbiQ8IUR5
PeptideAtlasiQ8IUR5
PRIDEiQ8IUR5
ProteomicsDBi70599 [Q8IUR5-5]
70600 [Q8IUR5-1]
70601 [Q8IUR5-2]
70602 [Q8IUR5-3]
70603 [Q8IUR5-4]

Genome annotation databases

EnsembliENST00000256062; ENSP00000256062; ENSG00000133687 [Q8IUR5-1]
ENST00000539277; ENSP00000442046; ENSG00000133687 [Q8IUR5-5]
GeneIDi83857
KEGGihsa:83857
UCSCiuc001rjb.4 human [Q8IUR5-5]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
83857
DisGeNETi83857
EuPathDBiHostDB:ENSG00000133687.15

GeneCards: human genes, protein and diseases

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GeneCardsi
TMTC1
HGNCiHGNC:24099 TMTC1
HPAiHPA016720
MIMi615855 gene
neXtProtiNX_Q8IUR5
OpenTargetsiENSG00000133687
PharmGKBiPA142670718

GenAtlas: human gene database

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GenAtlasi
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Phylogenomic databases

eggNOGiKOG1124 Eukaryota
COG0457 LUCA
GeneTreeiENSGT00940000158027
InParanoidiQ8IUR5
KOiK23424
OrthoDBi1320023at2759
PhylomeDBiQ8IUR5
TreeFamiTF328339

Enzyme and pathway databases

UniPathwayiUPA00378

Miscellaneous databases

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

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ChiTaRSi
TMTC1 human

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

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GenomeRNAii
83857
PharosiQ8IUR5 Tbio

Protein Ontology

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PROi
PR:Q8IUR5
RNActiQ8IUR5 protein

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
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Gene expression databases

BgeeiENSG00000133687 Expressed in 205 organ(s), highest expression level in trigeminal ganglion
ExpressionAtlasiQ8IUR5 baseline and differential
GenevisibleiQ8IUR5 HS

Family and domain databases

Gene3Di1.25.40.10, 5 hits
InterProiView protein in InterPro
IPR013618 DUF1736
IPR003107 HAT
IPR013026 TPR-contain_dom
IPR011990 TPR-like_helical_dom_sf
IPR013105 TPR_2
IPR019734 TPR_repeat
PfamiView protein in Pfam
PF08409 DUF1736, 1 hit
PF07719 TPR_2, 1 hit
PF13181 TPR_8, 1 hit
SMARTiView protein in SMART
SM00386 HAT, 3 hits
SM00028 TPR, 10 hits
SUPFAMiSSF48452 SSF48452, 2 hits
PROSITEiView protein in PROSITE
PS50005 TPR, 10 hits
PS50293 TPR_REGION, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
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<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 nameiTMTC1_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: Q8IUR5
Secondary accession number(s): D0EP37
, F5H8B5, Q6PIU4, Q6ZSM5, Q96N52, Q9BXM2
<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: September 21, 2011
Last modified: December 11, 2019
This is version 142 of the entry and version 3 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. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  2. SIMILARITY comments
    Index of protein domains and families
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. Human chromosome 12
    Human chromosome 12: entries, gene names and cross-references to MIM
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