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Entry version 137 (16 Oct 2019)
Sequence version 2 (06 Dec 2005)
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Protein

Transmembrane channel-like protein 6

Gene

TMC6

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

Probable ion channel.By similarity

<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 functionIon channel
Biological processIon transport, Transport

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-6798695 Neutrophil degranulation

Protein family/group databases

Transport Classification Database

More...
TCDBi
1.A.17.4.10 the calcium-dependent chloride channel (ca-clc) 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:
Transmembrane channel-like protein 6
Alternative name(s):
Epidermodysplasia verruciformis protein 1
Protein LAK-4
<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:TMC6
Synonyms:EVER1, EVIN1
<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 17

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:18021 TMC6

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
605828 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q7Z403

<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 subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini1 – 209LumenalSequence analysisAdd BLAST209
<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>Transmembranei210 – 230HelicalSequence analysisAdd BLAST21
Topological domaini231 – 249CytoplasmicSequence analysisAdd BLAST19
Transmembranei250 – 270HelicalSequence analysisAdd BLAST21
Topological domaini271 – 338LumenalSequence analysisAdd BLAST68
Transmembranei339 – 359HelicalSequence analysisAdd BLAST21
Topological domaini360 – 431CytoplasmicSequence analysisAdd BLAST72
Transmembranei432 – 452HelicalSequence analysisAdd BLAST21
Topological domaini453 – 469LumenalSequence analysisAdd BLAST17
Transmembranei470 – 490HelicalSequence analysisAdd BLAST21
Topological domaini491 – 505CytoplasmicSequence analysisAdd BLAST15
Transmembranei506 – 526HelicalSequence analysisAdd BLAST21
Topological domaini527 – 553LumenalSequence analysisAdd BLAST27
Transmembranei554 – 574HelicalSequence analysisAdd BLAST21
Topological domaini575 – 604CytoplasmicSequence analysisAdd BLAST30
Transmembranei605 – 625HelicalSequence analysisAdd BLAST21
Topological domaini626 – 650LumenalSequence analysisAdd BLAST25
Transmembranei651 – 671HelicalSequence analysisAdd BLAST21
Topological domaini672 – 722CytoplasmicSequence analysisAdd BLAST51
Transmembranei723 – 743HelicalSequence analysisAdd BLAST21
Topological domaini744 – 805LumenalSequence analysisAdd BLAST62

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

Epidermodysplasia verruciformis 1 (EV1)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of epidermodysplasia verruciformis, a rare genodermatosis associated with a high risk of skin carcinoma that results from an abnormal susceptibility to infection by specific human papillomaviruses, including the oncogenic HPV5. Infection leads to the early development of disseminated flat wart-like and pityriasis versicolor-like skin lesions. Cutaneous Bowen's carcinomas in situ and invasive squamous cell carcinomas develop in about half of the patients, mainly on sun-exposed skin areas. EV1 inheritance is autosomal recessive.
Related information in OMIM

Organism-specific databases

DisGeNET

More...
DisGeNETi
11322

MalaCards human disease database

More...
MalaCardsi
TMC6
MIMi226400 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000141524

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

More...
Orphaneti
302 Epidermodysplasia verruciformis

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA134949466

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q7Z403

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
TMC6

Domain mapping of disease mutations (DMDM)

More...
DMDMi
83305925

<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_00001853841 – 805Transmembrane channel-like protein 6Add BLAST805

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<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 residuei89PhosphothreonineCombined sources1
Modified residuei94Omega-N-methylarginineCombined sources1
<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>Glycosylationi103N-linked (GlcNAc...) asparagineSequence analysis1
Modified residuei105PhosphothreonineCombined sources1
Glycosylationi312N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Glycoprotein, Methylation, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q7Z403

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q7Z403

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q7Z403

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q7Z403

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

More...
PaxDbi
Q7Z403

PeptideAtlas

More...
PeptideAtlasi
Q7Z403

PRoteomics IDEntifications database

More...
PRIDEi
Q7Z403

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
69106 [Q7Z403-1]
69107 [Q7Z403-2]
69108 [Q7Z403-3]
69109 [Q7Z403-4]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q7Z403

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

More...
PhosphoSitePlusi
Q7Z403

SwissPalm database of S-palmitoylation events

More...
SwissPalmi
Q7Z403

<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

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Expressed in placenta, prostate, testis, activated T-lymphocytes and lymphokine-activated killer (LAK) lymphocytes.2 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000141524 Expressed in 210 organ(s), highest expression level in small intestine Peyer's patch

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q7Z403 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q7Z403 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA051430

<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

Interacts with CIB1.

1 Publication

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
116453, 4 interactors

Protein interaction database and analysis system

More...
IntActi
Q7Z403, 7 interactors

Molecular INTeraction database

More...
MINTi
Q7Z403

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000465261

<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

<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 TMC family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
ENOG410IH09 Eukaryota
ENOG410XR0Y LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00970000193425

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q7Z403

KEGG Orthology (KO)

More...
KOi
K21988

Identification of Orthologs from Complete Genome Data

More...
OMAi
PWHYALK

Database of Orthologous Groups

More...
OrthoDBi
1048914at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q7Z403

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR038900 TMC
IPR012496 TMC_dom

The PANTHER Classification System

More...
PANTHERi
PTHR23302 PTHR23302, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF07810 TMC, 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 (4+)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 4 <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 4 described isoforms and 4 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q7Z403-1) [UniParc]FASTAAdd to basket
Also known as: Large EVER1

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
MAQPLAFILD VPETPGDQGQ GPSPYDESEV HDSFQQLIQE QSQCTAQEGL
60 70 80 90 100
ELQQREREVT GSSQQTLWRP EGTQSTATLR ILASMPSRTI GRSRGAIISQ
110 120 130 140 150
YYNRTVQLRC RSSRPLLGNF VRSAWPSLRL YDLELDPTAL EEEEKQSLLV
160 170 180 190 200
KELQSLAVAQ RDHMLRGMPL SLAEKRSLRE KSRTPRGKWR GQPGSGGVCS
210 220 230 240 250
CCGRLRYACV LALHSLGLAL LSALQALMPW RYALKRIGGQ FGSSVLSYFL
260 270 280 290 300
FLKTLLAFNA LLLLLLVAFI MGPQVAFPPA LPGPAPVCTG LELLTGAGCF
310 320 330 340 350
THTVMYYGHY SNATLNQPCG SPLDGSQCTP RVGGLPYNMP LAYLSTVGVS
360 370 380 390 400
FFITCITLVY SMAHSFGESY RVGSTSGIHA ITVFCSWDYK VTQKRASRLQ
410 420 430 440 450
QDNIRTRLKE LLAEWQLRHS PRSVCGRLRQ AAVLGLVWLL CLGTALGCAV
460 470 480 490 500
AVHVFSEFMI QSPEAAGQEA VLLVLPLVVG LLNLGAPYLC RVLAALEPHD
510 520 530 540 550
SPVLEVYVAI CRNLILKLAI LGTLCYHWLG RRVGVLQGQC WEDFVGQELY
560 570 580 590 600
RFLVMDFVLM LLDTLFGELV WRIISEKKLK RRRKPEFDIA RNVLELIYGQ
610 620 630 640 650
TLTWLGVLFS PLLPAVQIIK LLLVFYVKKT SLLANCQAPR RPWLASHMST
660 670 680 690 700
VFLTLLCFPA FLGAAVFLCY AVWQVKPSST CGPFRTLDTM YEAGRVWVRH
710 720 730 740 750
LEAAGPRVSW LPWVHRYLME NTFFVFLVSA LLLAVIYLNI QVVRGQRKVI
760 770 780 790 800
CLLKEQISNE GEDKIFLINK LHSIYERKER EERSRVGTTE EAAAPPALLT

DEQDA
Length:805
Mass (Da):90,045
Last modified:December 6, 2005 - 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:i9A9A5C43FBA86AD4
GO
Isoform 2 (identifier: Q7Z403-2) [UniParc]FASTAAdd to basket
Also known as: Small EVER1

The sequence of this isoform differs from the canonical sequence as follows:
     410-760: Missing.

Show »
Length:454
Mass (Da):50,259
Checksum:i0195CCD92CB21D94
GO
Isoform 3 (identifier: Q7Z403-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-361: Missing.
     512-571: Missing.

Note: No experimental confirmation available.
Show »
Length:384
Mass (Da):43,343
Checksum:i845D2E11F8FCDCE2
GO
Isoform 4 (identifier: Q7Z403-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-227: Missing.
     513-525: NLILKLAILGTLC → CVAAHENIIWCWS
     526-805: Missing.

Note: No experimental confirmation available.
Show »
Length:298
Mass (Da):32,485
Checksum:i249E60460853BA27
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 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
K7ERH0K7ERH0_HUMAN
Transmembrane channel-like protein ...
TMC6
285Annotation 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>
K7ENC4K7ENC4_HUMAN
Transmembrane channel-like protein ...
TMC6
153Annotation 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>
K7ENM6K7ENM6_HUMAN
Transmembrane channel-like protein ...
TMC6
143Annotation 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>
K7ELP1K7ELP1_HUMAN
Transmembrane channel-like protein ...
TMC6
41Annotation 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 AAH35648 differs from that shown. Reason: Erroneous initiation.Curated
The sequence BAA24179 differs from that shown. Reason: Erroneous initiation.Curated
The sequence BAB84891 differs from that shown. Reason: Erroneous initiation.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 conflicti266L → P in AAP69874 (PubMed:12906855).Curated1
Sequence conflicti274 – 277QVAF → PRVR in AAH35648 (PubMed:15489334).Curated4
Sequence conflicti556D → G in AAP69874 (PubMed:12906855).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_023963125W → R1 PublicationCorresponds to variant dbSNP:rs2748427EnsemblClinVar.1
Natural variantiVAR_052336153L → F1 PublicationCorresponds to variant dbSNP:rs12449858EnsemblClinVar.1
Natural variantiVAR_061851191G → D. Corresponds to variant dbSNP:rs34712518Ensembl.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_0164371 – 361Missing in isoform 3. 1 PublicationAdd BLAST361
Alternative sequenceiVSP_0164381 – 227Missing in isoform 4. 1 PublicationAdd BLAST227
Alternative sequenceiVSP_016439410 – 760Missing in isoform 2. 1 PublicationAdd BLAST351
Alternative sequenceiVSP_016440512 – 571Missing in isoform 3. 1 PublicationAdd BLAST60
Alternative sequenceiVSP_016441513 – 525NLILK…LGTLC → CVAAHENIIWCWS in isoform 4. 1 PublicationAdd BLAST13
Alternative sequenceiVSP_016442526 – 805Missing in isoform 4. 1 PublicationAdd BLAST280

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

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DDBJi
Links Updated
AY057379 mRNA Translation: AAL25836.1
AY099356 mRNA Translation: AAM44452.1
AY099357 mRNA Translation: AAM44453.1
AY236496 mRNA Translation: AAP69874.1
DQ104440 mRNA Translation: AAZ20186.1
AK021738 mRNA Translation: BAB13884.1
AK074065 mRNA Translation: BAB84891.1 Different initiation.
BC023597 mRNA Translation: AAH23597.1
BC035648 mRNA Translation: AAH35648.1 Different initiation.
AB002405 mRNA Translation: BAA24179.2 Different initiation.

The Consensus CDS (CCDS) project

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CCDSi
CCDS32748.1 [Q7Z403-1]

NCBI Reference Sequences

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RefSeqi
NP_001120670.1, NM_001127198.2 [Q7Z403-1]
NP_001308114.1, NM_001321185.1 [Q7Z403-1]
NP_009198.4, NM_007267.7 [Q7Z403-1]
XP_005257052.1, XM_005256995.1 [Q7Z403-1]
XP_011522557.1, XM_011524255.1 [Q7Z403-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000306591; ENSP00000306405; ENSG00000141524 [Q7Z403-2]
ENST00000322914; ENSP00000313408; ENSG00000141524 [Q7Z403-1]
ENST00000392467; ENSP00000376260; ENSG00000141524 [Q7Z403-1]
ENST00000589553; ENSP00000465359; ENSG00000141524 [Q7Z403-4]
ENST00000590602; ENSP00000465261; ENSG00000141524 [Q7Z403-1]
ENST00000591436; ENSP00000464853; ENSG00000141524 [Q7Z403-3]

Database of genes from NCBI RefSeq genomes

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GeneIDi
11322

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:11322

UCSC genome browser

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UCSCi
uc002jui.2 human [Q7Z403-1]

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

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

TMC6base

TMC6 mutation db

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY057379 mRNA Translation: AAL25836.1
AY099356 mRNA Translation: AAM44452.1
AY099357 mRNA Translation: AAM44453.1
AY236496 mRNA Translation: AAP69874.1
DQ104440 mRNA Translation: AAZ20186.1
AK021738 mRNA Translation: BAB13884.1
AK074065 mRNA Translation: BAB84891.1 Different initiation.
BC023597 mRNA Translation: AAH23597.1
BC035648 mRNA Translation: AAH35648.1 Different initiation.
AB002405 mRNA Translation: BAA24179.2 Different initiation.
CCDSiCCDS32748.1 [Q7Z403-1]
RefSeqiNP_001120670.1, NM_001127198.2 [Q7Z403-1]
NP_001308114.1, NM_001321185.1 [Q7Z403-1]
NP_009198.4, NM_007267.7 [Q7Z403-1]
XP_005257052.1, XM_005256995.1 [Q7Z403-1]
XP_011522557.1, XM_011524255.1 [Q7Z403-1]

3D structure databases

Database of comparative protein structure models

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ModBasei
Search...

SWISS-MODEL Interactive Workspace

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SWISS-MODEL-Workspacei
Submit a new modelling project...

Protein-protein interaction databases

BioGridi116453, 4 interactors
IntActiQ7Z403, 7 interactors
MINTiQ7Z403
STRINGi9606.ENSP00000465261

Protein family/group databases

TCDBi1.A.17.4.10 the calcium-dependent chloride channel (ca-clc) family

PTM databases

iPTMnetiQ7Z403
PhosphoSitePlusiQ7Z403
SwissPalmiQ7Z403

Polymorphism and mutation databases

BioMutaiTMC6
DMDMi83305925

Proteomic databases

EPDiQ7Z403
jPOSTiQ7Z403
MassIVEiQ7Z403
MaxQBiQ7Z403
PaxDbiQ7Z403
PeptideAtlasiQ7Z403
PRIDEiQ7Z403
ProteomicsDBi69106 [Q7Z403-1]
69107 [Q7Z403-2]
69108 [Q7Z403-3]
69109 [Q7Z403-4]

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
11322

Genome annotation databases

EnsembliENST00000306591; ENSP00000306405; ENSG00000141524 [Q7Z403-2]
ENST00000322914; ENSP00000313408; ENSG00000141524 [Q7Z403-1]
ENST00000392467; ENSP00000376260; ENSG00000141524 [Q7Z403-1]
ENST00000589553; ENSP00000465359; ENSG00000141524 [Q7Z403-4]
ENST00000590602; ENSP00000465261; ENSG00000141524 [Q7Z403-1]
ENST00000591436; ENSP00000464853; ENSG00000141524 [Q7Z403-3]
GeneIDi11322
KEGGihsa:11322
UCSCiuc002jui.2 human [Q7Z403-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
11322
DisGeNETi11322

GeneCards: human genes, protein and diseases

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GeneCardsi
TMC6
HGNCiHGNC:18021 TMC6
HPAiHPA051430
MalaCardsiTMC6
MIMi226400 phenotype
605828 gene
neXtProtiNX_Q7Z403
OpenTargetsiENSG00000141524
Orphaneti302 Epidermodysplasia verruciformis
PharmGKBiPA134949466

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410IH09 Eukaryota
ENOG410XR0Y LUCA
GeneTreeiENSGT00970000193425
InParanoidiQ7Z403
KOiK21988
OMAiPWHYALK
OrthoDBi1048914at2759
PhylomeDBiQ7Z403

Enzyme and pathway databases

ReactomeiR-HSA-6798695 Neutrophil degranulation

Miscellaneous databases

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

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ChiTaRSi
TMC6 human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
TMC6

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

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GenomeRNAii
11322
PharosiQ7Z403

Protein Ontology

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PROi
PR:Q7Z403

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000141524 Expressed in 210 organ(s), highest expression level in small intestine Peyer's patch
ExpressionAtlasiQ7Z403 baseline and differential
GenevisibleiQ7Z403 HS

Family and domain databases

InterProiView protein in InterPro
IPR038900 TMC
IPR012496 TMC_dom
PANTHERiPTHR23302 PTHR23302, 1 hit
PfamiView protein in Pfam
PF07810 TMC, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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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 nameiTMC6_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: Q7Z403
Secondary accession number(s): O43284
, Q45VJ2, Q8IU98, Q8IUI7, Q8IWU8, Q8TEQ7, Q9HAG5
<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: December 6, 2005
Last sequence update: December 6, 2005
Last modified: October 16, 2019
This is version 137 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

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
  5. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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