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Q7Z403 (TMC6_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 88. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Transmembrane channel-like protein 6
Alternative name(s):
Epidermodysplasia verruciformis protein 1
Protein LAK-4
Gene names
Name:TMC6
Synonyms:EVER1, EVIN1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length805 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

Function

Probable ion channel By similarity.

Subcellular location

Endoplasmic reticulum membrane; Multi-pass membrane protein Ref.1.

Tissue specificity

Expressed in placenta, prostate, testis, activated T-lymphocytes and lymphokine-activated killer (LAK) lymphocytes. Ref.2 Ref.3

Involvement in disease

Epidermodysplasia verruciformis (EV) [MIM:226400]: Rare 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.
Note: The disease is caused by mutations affecting the gene represented in this entry.

Sequence similarities

Belongs to the TMC family.

Sequence caution

The sequence AAH35648.1 differs from that shown. Reason: Erroneous initiation.

The sequence BAA24179.2 differs from that shown. Reason: Erroneous initiation.

The sequence BAB84891.1 differs from that shown. Reason: Erroneous initiation.

Alternative products

This entry describes 4 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q7Z403-1)

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.
Isoform 2 (identifier: Q7Z403-2)

Also known as: Small EVER1;

The sequence of this isoform differs from the canonical sequence as follows:
     410-760: Missing.
Isoform 3 (identifier: Q7Z403-3)

The sequence of this isoform differs from the canonical sequence as follows:
     1-361: Missing.
     512-571: Missing.
Note: No experimental confirmation available.
Isoform 4 (identifier: Q7Z403-4)

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.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 805805Transmembrane channel-like protein 6
PRO_0000185384

Regions

Topological domain1 – 209209Lumenal Potential
Transmembrane210 – 23021Helical; Potential
Topological domain231 – 24919Cytoplasmic Potential
Transmembrane250 – 27021Helical; Potential
Topological domain271 – 33868Lumenal Potential
Transmembrane339 – 35921Helical; Potential
Topological domain360 – 43172Cytoplasmic Potential
Transmembrane432 – 45221Helical; Potential
Topological domain453 – 46917Lumenal Potential
Transmembrane470 – 49021Helical; Potential
Topological domain491 – 50515Cytoplasmic Potential
Transmembrane506 – 52621Helical; Potential
Topological domain527 – 55327Lumenal Potential
Transmembrane554 – 57421Helical; Potential
Topological domain575 – 60430Cytoplasmic Potential
Transmembrane605 – 62521Helical; Potential
Topological domain626 – 65025Lumenal Potential
Transmembrane651 – 67121Helical; Potential
Topological domain672 – 72251Cytoplasmic Potential
Transmembrane723 – 74321Helical; Potential
Topological domain744 – 80562Lumenal Potential

Amino acid modifications

Glycosylation1031N-linked (GlcNAc...) Potential
Glycosylation3121N-linked (GlcNAc...) Potential

Natural variations

Alternative sequence1 – 361361Missing in isoform 3.
VSP_016437
Alternative sequence1 – 227227Missing in isoform 4.
VSP_016438
Alternative sequence410 – 760351Missing in isoform 2.
VSP_016439
Alternative sequence512 – 57160Missing in isoform 3.
VSP_016440
Alternative sequence513 – 52513NLILK…LGTLC → CVAAHENIIWCWS in isoform 4.
VSP_016441
Alternative sequence526 – 805280Missing in isoform 4.
VSP_016442
Natural variant1251W → R. Ref.1
Corresponds to variant rs2748427 [ dbSNP | Ensembl ].
VAR_023963
Natural variant1531L → F. Ref.6
Corresponds to variant rs12449858 [ dbSNP | Ensembl ].
VAR_052336
Natural variant1911G → D.
Corresponds to variant rs34712518 [ dbSNP | Ensembl ].
VAR_061851

Experimental info

Sequence conflict2661L → P in AAP69874. Ref.2
Sequence conflict274 – 2774QVAF → PRVR in AAH35648. Ref.6
Sequence conflict5561D → G in AAP69874. Ref.2

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 (Large EVER1) [UniParc].

Last modified December 6, 2005. Version 2.
Checksum: 9A9A5C43FBA86AD4

FASTA80590,045
        10         20         30         40         50         60 
MAQPLAFILD VPETPGDQGQ GPSPYDESEV HDSFQQLIQE QSQCTAQEGL ELQQREREVT 

        70         80         90        100        110        120 
GSSQQTLWRP EGTQSTATLR ILASMPSRTI GRSRGAIISQ YYNRTVQLRC RSSRPLLGNF 

       130        140        150        160        170        180 
VRSAWPSLRL YDLELDPTAL EEEEKQSLLV KELQSLAVAQ RDHMLRGMPL SLAEKRSLRE 

       190        200        210        220        230        240 
KSRTPRGKWR GQPGSGGVCS CCGRLRYACV LALHSLGLAL LSALQALMPW RYALKRIGGQ 

       250        260        270        280        290        300 
FGSSVLSYFL FLKTLLAFNA LLLLLLVAFI MGPQVAFPPA LPGPAPVCTG LELLTGAGCF 

       310        320        330        340        350        360 
THTVMYYGHY SNATLNQPCG SPLDGSQCTP RVGGLPYNMP LAYLSTVGVS FFITCITLVY 

       370        380        390        400        410        420 
SMAHSFGESY RVGSTSGIHA ITVFCSWDYK VTQKRASRLQ QDNIRTRLKE LLAEWQLRHS 

       430        440        450        460        470        480 
PRSVCGRLRQ AAVLGLVWLL CLGTALGCAV AVHVFSEFMI QSPEAAGQEA VLLVLPLVVG 

       490        500        510        520        530        540 
LLNLGAPYLC RVLAALEPHD SPVLEVYVAI CRNLILKLAI LGTLCYHWLG RRVGVLQGQC 

       550        560        570        580        590        600 
WEDFVGQELY RFLVMDFVLM LLDTLFGELV WRIISEKKLK RRRKPEFDIA RNVLELIYGQ 

       610        620        630        640        650        660 
TLTWLGVLFS PLLPAVQIIK LLLVFYVKKT SLLANCQAPR RPWLASHMST VFLTLLCFPA 

       670        680        690        700        710        720 
FLGAAVFLCY AVWQVKPSST CGPFRTLDTM YEAGRVWVRH LEAAGPRVSW LPWVHRYLME 

       730        740        750        760        770        780 
NTFFVFLVSA LLLAVIYLNI QVVRGQRKVI CLLKEQISNE GEDKIFLINK LHSIYERKER 

       790        800 
EERSRVGTTE EAAAPPALLT DEQDA 

« Hide

Isoform 2 (Small EVER1) [UniParc].

Checksum: 0195CCD92CB21D94
Show »

FASTA45450,259
Isoform 3 [UniParc].

Checksum: 845D2E11F8FCDCE2
Show »

FASTA38443,343
Isoform 4 [UniParc].

Checksum: 249E60460853BA27
Show »

FASTA29832,485

References

« Hide 'large scale' references
[1]"Mutations in two adjacent novel genes are associated with epidermodysplasia verruciformis."
Ramoz N., Rueda L.-A., Bouadjar B., Montoya L.-S., Orth G., Favre M.
Nat. Genet. 32:579-581(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2), SUBCELLULAR LOCATION, INVOLVEMENT IN EPIDERMODYSPLASIA VERRUCIFORMIS, VARIANT ARG-125.
[2]"Characterization of the transmembrane channel-like (TMC) gene family: functional clues from hearing loss and epidermodysplasia verruciformis."
Kurima K., Yang Y., Sorber K., Griffith A.J.
Genomics 82:300-308(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY.
[3]Lin L., Nong W., Zhou G., Ke R., Shen C., Zhong G., Zheng Z., Liang M., Wen S., Li H., Yang S.
Submitted (JUN-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3), TISSUE SPECIFICITY.
[4]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 4).
[5]"The nucleotide sequence of a long cDNA clone isolated from human spleen."
Jikuya H., Takano J., Nomura N., Kikuno R., Nagase T., Ohara O.
Submitted (JAN-2002) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
Tissue: Spleen.
[6]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT PHE-153.
Tissue: B-cell and Brain.
[7]"LAK-4 clone from the membrane lymphotoxin expressing subtraction library."
Abe Y., Takaoka Y.
Submitted (MAR-1997) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 345-805.
Tissue: Lymphoid tissue.
[8]"Novel mutations of EVER1/TMC6 gene in a Japanese patient with epidermodysplasia verruciformis."
Tate G., Suzuki T., Kishimoto K., Mitsuya T.
J. Hum. Genet. 49:223-225(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: INVOLVEMENT IN EPIDERMODYSPLASIA VERRUCIFORMIS.
+Additional computationally mapped references.

Web resources

TMC6base

TMC6 mutation db

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
RefSeqNP_001120670.1. NM_001127198.1.
NP_009198.4. NM_007267.6.
XP_005257052.1. XM_005256995.1.
XP_005257053.1. XM_005256996.1.
UniGeneHs.632227.

3D structure databases

ProteinModelPortalQ7Z403.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid116453. 1 interaction.
STRING9606.ENSP00000313408.

PTM databases

PhosphoSiteQ7Z403.

Polymorphism databases

DMDM83305925.

Proteomic databases

PaxDbQ7Z403.
PRIDEQ7Z403.

Protocols and materials databases

DNASU11322.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000306591; ENSP00000306405; ENSG00000141524. [Q7Z403-2]
ENST00000322914; ENSP00000313408; ENSG00000141524. [Q7Z403-1]
ENST00000322933; ENSP00000313479; ENSG00000141524. [Q7Z403-3]
ENST00000392467; ENSP00000376260; ENSG00000141524. [Q7Z403-1]
ENST00000589553; ENSP00000465359; ENSG00000141524. [Q7Z403-4]
ENST00000590602; ENSP00000465261; ENSG00000141524. [Q7Z403-1]
ENST00000591436; ENSP00000464853; ENSG00000141524. [Q7Z403-3]
GeneID11322.
KEGGhsa:11322.
UCSCuc002jui.1. human. [Q7Z403-3]
uc002juj.1. human. [Q7Z403-1]
uc002juo.2. human. [Q7Z403-4]
uc010dhg.1. human. [Q7Z403-2]

Organism-specific databases

CTD11322.
GeneCardsGC17M076108.
H-InvDBHIX0200093.
HGNCHGNC:18021. TMC6.
HPAHPA051430.
MIM226400. phenotype.
605828. gene.
neXtProtNX_Q7Z403.
Orphanet302. Epidermodysplasia verruciformis.
PharmGKBPA134949466.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG78295.
HOVERGENHBG061579.
InParanoidQ7Z403.
OMAVYVAICR.
OrthoDBEOG7D85XD.
PhylomeDBQ7Z403.

Gene expression databases

ArrayExpressQ7Z403.
BgeeQ7Z403.
CleanExHS_TMC6.
GenevestigatorQ7Z403.

Family and domain databases

InterProIPR012496. TMC.
[Graphical view]
PfamPF07810. TMC. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiTMC6.
GenomeRNAi11322.
NextBio43015.
PROQ7Z403.
SOURCESearch...

Entry information

Entry nameTMC6_HUMAN
AccessionPrimary (citable) accession number: Q7Z403
Secondary accession number(s): O43284 expand/collapse secondary AC list , Q45VJ2, Q8IU98, Q8IUI7, Q8IWU8, Q8TEQ7, Q9HAG5
Entry history
Integrated into UniProtKB/Swiss-Prot: December 6, 2005
Last sequence update: December 6, 2005
Last modified: April 16, 2014
This is version 88 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 17

Human chromosome 17: entries, gene names and cross-references to MIM