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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-Experimental evidence at protein leveli

Functioni

Probable ion channel.By similarity

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Ion channel

Keywords - Biological processi

Ion transport, Transport

Enzyme and pathway databases

ReactomeiR-HSA-6798695. Neutrophil degranulation.

Protein family/group databases

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

Names & Taxonomyi

Protein namesi
Recommended name:
Transmembrane channel-like protein 6
Alternative name(s):
Epidermodysplasia verruciformis protein 1
Protein LAK-4
Gene namesi
Name:TMC6
Synonyms:EVER1, EVIN1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 17

Organism-specific databases

HGNCiHGNC:18021. TMC6.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 209LumenalSequence analysisAdd BLAST209
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

GO - Cellular componenti

  • cytoplasm Source: UniProtKB
  • endoplasmic reticulum Source: UniProtKB
  • endoplasmic reticulum membrane Source: UniProtKB-SubCell
  • extracellular exosome Source: UniProtKB
  • Golgi apparatus Source: UniProtKB
  • integral component of membrane Source: UniProtKB-KW
  • nuclear membrane Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane

Pathology & Biotechi

Involvement in diseasei

Epidermodysplasia verruciformis (EV)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionRare autosomal recessive genodermatosis associated with a high risk of skin carcinoma that results from an abnormal susceptibility to infection by specific human papillomaviruses. Infection leads to persistent wart-like or macular lesions.
See also OMIM:226400

Organism-specific databases

DisGeNETi11322.
MalaCardsiTMC6.
MIMi226400. phenotype.
OpenTargetsiENSG00000141524.
Orphaneti302. Epidermodysplasia verruciformis.
PharmGKBiPA134949466.

Polymorphism and mutation databases

BioMutaiTMC6.
DMDMi83305925.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001853841 – 805Transmembrane channel-like protein 6Add BLAST805

Amino acid modifications

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

Keywords - PTMi

Glycoprotein, Methylation, Phosphoprotein

Proteomic databases

MaxQBiQ7Z403.
PaxDbiQ7Z403.
PeptideAtlasiQ7Z403.
PRIDEiQ7Z403.

PTM databases

iPTMnetiQ7Z403.
PhosphoSitePlusiQ7Z403.
SwissPalmiQ7Z403.

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiENSG00000141524.
CleanExiHS_TMC6.
ExpressionAtlasiQ7Z403. baseline and differential.
GenevisibleiQ7Z403. HS.

Organism-specific databases

HPAiHPA051430.

Interactioni

Protein-protein interaction databases

BioGridi116453. 3 interactors.
IntActiQ7Z403. 1 interactor.
STRINGi9606.ENSP00000313408.

Structurei

3D structure databases

ProteinModelPortaliQ7Z403.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the TMC family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IH09. Eukaryota.
ENOG410XR0Y. LUCA.
GeneTreeiENSGT00760000119171.
HOVERGENiHBG061579.
InParanoidiQ7Z403.
OMAiLVYSMAH.
OrthoDBiEOG091G04K4.
PhylomeDBiQ7Z403.

Family and domain databases

InterProiIPR012496. TMC.
[Graphical view]
PfamiPF07810. TMC. 1 hit.
[Graphical view]

Sequences (4)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

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

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
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
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

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
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
Natural variantiVAR_023963125W → R.1 PublicationCorresponds to variant rs2748427dbSNPEnsembl.1
Natural variantiVAR_052336153L → F.1 PublicationCorresponds to variant rs12449858dbSNPEnsembl.1
Natural variantiVAR_061851191G → D.Corresponds to variant rs34712518dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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:
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]
UniGeneiHs.632227.

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]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

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]
UniGeneiHs.632227.

3D structure databases

ProteinModelPortaliQ7Z403.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi116453. 3 interactors.
IntActiQ7Z403. 1 interactor.
STRINGi9606.ENSP00000313408.

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

MaxQBiQ7Z403.
PaxDbiQ7Z403.
PeptideAtlasiQ7Z403.
PRIDEiQ7Z403.

Protocols and materials databases

DNASUi11322.
Structural Biology KnowledgebaseSearch...

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

CTDi11322.
DisGeNETi11322.
GeneCardsiTMC6.
H-InvDBHIX0200093.
HGNCiHGNC:18021. TMC6.
HPAiHPA051430.
MalaCardsiTMC6.
MIMi226400. phenotype.
605828. gene.
neXtProtiNX_Q7Z403.
OpenTargetsiENSG00000141524.
Orphaneti302. Epidermodysplasia verruciformis.
PharmGKBiPA134949466.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IH09. Eukaryota.
ENOG410XR0Y. LUCA.
GeneTreeiENSGT00760000119171.
HOVERGENiHBG061579.
InParanoidiQ7Z403.
OMAiLVYSMAH.
OrthoDBiEOG091G04K4.
PhylomeDBiQ7Z403.

Enzyme and pathway databases

ReactomeiR-HSA-6798695. Neutrophil degranulation.

Miscellaneous databases

ChiTaRSiTMC6. human.
GeneWikiiTMC6.
GenomeRNAii11322.
PROiQ7Z403.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000141524.
CleanExiHS_TMC6.
ExpressionAtlasiQ7Z403. baseline and differential.
GenevisibleiQ7Z403. HS.

Family and domain databases

InterProiIPR012496. TMC.
[Graphical view]
PfamiPF07810. TMC. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiTMC6_HUMAN
AccessioniPrimary (citable) accession number: Q7Z403
Secondary accession number(s): O43284
, Q45VJ2, Q8IU98, Q8IUI7, Q8IWU8, Q8TEQ7, Q9HAG5
Entry historyi
Integrated into UniProtKB/Swiss-Prot: December 6, 2005
Last sequence update: December 6, 2005
Last modified: November 30, 2016
This is version 115 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

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

Similar proteinsi

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