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Q8IU68

- TMC8_HUMAN

UniProt

Q8IU68 - TMC8_HUMAN

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Protein

Transmembrane channel-like protein 8

Gene

TMC8

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at transcript leveli

Functioni

Probable ion channel.By similarity

GO - Molecular functioni

  1. receptor binding Source: UniProt

GO - Biological processi

  1. ion transport Source: UniProtKB-KW
  2. negative regulation of protein binding Source: UniProt
  3. negative regulation of protein oligomerization Source: UniProt
  4. regulation of cell growth Source: UniProt
  5. regulation of extrinsic apoptotic signaling pathway via death domain receptors Source: UniProt
  6. zinc ion homeostasis Source: UniProt
Complete GO annotation...

Keywords - Molecular functioni

Ion channel

Keywords - Biological processi

Ion transport, Transport

Protein family/group databases

TCDBi1.A.17.4.11. the calcium-dependent chloride channel (ca-clc) family.

Names & Taxonomyi

Protein namesi
Recommended name:
Transmembrane channel-like protein 8
Alternative name(s):
Epidermodysplasia verruciformis protein 2
Gene namesi
Name:TMC8
Synonyms:EVER2, EVIN2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 17

Organism-specific databases

HGNCiHGNC:20474. TMC8.

Subcellular locationi

Endoplasmic reticulum membrane 1 Publication; Multi-pass membrane protein 1 Publication

GO - Cellular componenti

  1. cytoplasm Source: UniProt
  2. endoplasmic reticulum Source: UniProt
  3. extracellular space Source: UniProt
  4. extracellular vesicular exosome Source: UniProt
  5. Golgi apparatus Source: UniProt
  6. integral component of membrane Source: UniProtKB-KW
  7. nuclear membrane Source: UniProt
Complete GO annotation...

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane

Pathology & Biotechi

Involvement in diseasei

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.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.

Organism-specific databases

MIMi226400. phenotype.
Orphaneti302. Epidermodysplasia verruciformis.
PharmGKBiPA134892288.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 726726Transmembrane channel-like protein 8PRO_0000185386Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi148 – 1481N-linked (GlcNAc...)Sequence Analysis
Glycosylationi567 – 5671N-linked (GlcNAc...)Sequence Analysis

Keywords - PTMi

Glycoprotein

Proteomic databases

PaxDbiQ8IU68.
PRIDEiQ8IU68.

PTM databases

PhosphoSiteiQ8IU68.

Expressioni

Tissue specificityi

Expressed in placenta, prostate and testis.1 Publication

Gene expression databases

BgeeiQ8IU68.
CleanExiHS_TMC8.
ExpressionAtlasiQ8IU68. baseline and differential.
GenevestigatoriQ8IU68.

Organism-specific databases

HPAiHPA054429.

Interactioni

Protein-protein interaction databases

STRINGi9606.ENSP00000325561.

Structurei

3D structure databases

ProteinModelPortaliQ8IU68.
ModBaseiSearch...
MobiDBiSearch...

Topological domain

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 114114CytoplasmicSequence AnalysisAdd
BLAST
Topological domaini136 – 20065LumenalSequence AnalysisAdd
BLAST
Topological domaini222 – 29978CytoplasmicSequence AnalysisAdd
BLAST
Topological domaini321 – 33818LumenalSequence AnalysisAdd
BLAST
Topological domaini360 – 42667CytoplasmicSequence AnalysisAdd
BLAST
Topological domaini448 – 48841LumenalSequence AnalysisAdd
BLAST
Topological domaini510 – 53122CytoplasmicSequence AnalysisAdd
BLAST
Topological domaini553 – 59442LumenalSequence AnalysisAdd
BLAST
Topological domaini616 – 726111CytoplasmicSequence AnalysisAdd
BLAST

Transmembrane

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei115 – 13521HelicalSequence AnalysisAdd
BLAST
Transmembranei201 – 22121HelicalSequence AnalysisAdd
BLAST
Transmembranei300 – 32021HelicalSequence AnalysisAdd
BLAST
Transmembranei339 – 35921HelicalSequence AnalysisAdd
BLAST
Transmembranei427 – 44721HelicalSequence AnalysisAdd
BLAST
Transmembranei489 – 50921HelicalSequence AnalysisAdd
BLAST
Transmembranei532 – 55221HelicalSequence AnalysisAdd
BLAST
Transmembranei595 – 61521HelicalSequence AnalysisAdd
BLAST

Family & Domainsi

Sequence similaritiesi

Belongs to the TMC family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG70493.
GeneTreeiENSGT00760000119171.
HOGENOMiHOG000038033.
HOVERGENiHBG055908.
InParanoidiQ8IU68.
OMAiWCVVLKL.
OrthoDBiEOG73FQM9.
PhylomeDBiQ8IU68.
TreeFamiTF313462.

Family and domain databases

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

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q8IU68-1) [UniParc]FASTAAdd to Basket

Also known as: Large EVER2

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
MLLPRSVSSE RAPGVPEPEE LWEAEMERLR GSGTPVRGLP YAMMDKRLIW
60 70 80 90 100
QLREPAGVQT LRWQRWQRRR QTVERRLREA AQRLARGLGL WEGALYEIGG
110 120 130 140 150
LFGTGIRSYF TFLRFLLLLN LLSLLLTASF VLLPLVWLRP PDPGPTLNLT
160 170 180 190 200
LQCPGSRQSP PGVLRFHNQL WHVLTGRAFT NTYLFYGAYR VGPESSSVYS
210 220 230 240 250
IRLAYLLSPL ACLLLCFCGT LRRMVKGLPQ KTLLGQGYQA PLSAKVFSSW
260 270 280 290 300
DFCIRVQEAA TIKKHEISNE FKVELEEGRR FQLMQQQTRA QTACRLLSYL
310 320 330 340 350
RVNVLNGLLV VGAISAIFWA TKYSQDNKEE SLFLLLQYLP PGVIALVNFL
360 370 380 390 400
GPLLFTFLVQ LENYPPNTEV NLTLIWCVVL KLASLGMFSV SLGQTILCIG
410 420 430 440 450
RDKSSCESYG YNVCDYQCWE NSVGEELYKL SIFNFLLTVA FAFLVTLPRR
460 470 480 490 500
LLVDRFSGRF WAWLEREEFL VPKNVLDIVA GQTVTWMGLF YCPLLPLLNS
510 520 530 540 550
VFLFLTFYIK KYTLLKNSRA SSRPFRASSS TFFFQLVLLL GLLLAAVPLG
560 570 580 590 600
YVVSSIHSSW DCGLFTNYSA PWQVVPELVA LGLPPIGQRA LHYLGSHAFS
610 620 630 640 650
FPLLIMLSLV LTVCVSQTQA NARAIHRLRK QLVWQVQEKW HLVEDLSRLL
660 670 680 690 700
PEPGPSDSPG PKYPASQASR PQSFCPGCPC PGSPGHQAPR PGPSVVDAAG
710 720
LRSPCPGQHG APASARRFRF PSGAEL
Length:726
Mass (Da):81,641
Last modified:March 1, 2003 - v1
Checksum:iAA3F4A01A6C315EF
GO
Isoform 2 (identifier: Q8IU68-2) [UniParc]FASTAAdd to Basket

Also known as: Small EVER2

The sequence of this isoform differs from the canonical sequence as follows:
     1-223: Missing.

Show »
Length:503
Mass (Da):56,132
Checksum:i9466295B76B989E7
GO

Sequence cautioni

The sequence BC028076 differs from that shown. Reason: Unlikely isoform. Aberrant splice sites.
The sequence BAC03459.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti5 – 51R → W in BAC03459. 1 PublicationCurated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti306 – 3061N → I.1 Publication
Corresponds to variant rs7208422 [ dbSNP | Ensembl ].
VAR_023964
Natural varianti501 – 5011V → I.
Corresponds to variant rs11651675 [ dbSNP | Ensembl ].
VAR_052337

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 223223Missing in isoform 2. 1 PublicationVSP_016448Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AY057380 mRNA. Translation: AAL25837.1.
AY099358 mRNA. Translation: AAM44454.1.
AY099359 mRNA. Translation: AAM44455.1.
AY236500 mRNA. Translation: AAP69878.1.
AK090478 mRNA. Translation: BAC03459.1. Different initiation.
AC021593 Genomic DNA. No translation available.
BC028076 mRNA. No translation available.
BC110296 mRNA. Translation: AAI10297.1.
CCDSiCCDS32749.1. [Q8IU68-1]
RefSeqiNP_689681.2. NM_152468.4. [Q8IU68-1]
XP_006721788.1. XM_006721725.1. [Q8IU68-2]
UniGeneiHs.592102.

Genome annotation databases

EnsembliENST00000318430; ENSP00000325561; ENSG00000167895. [Q8IU68-1]
ENST00000589691; ENSP00000467482; ENSG00000167895. [Q8IU68-2]
GeneIDi147138.
KEGGihsa:147138.
UCSCiuc002jup.2. human. [Q8IU68-1]

Polymorphism databases

DMDMi74714272.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Web resourcesi

TMC8base

TMC8 mutation db

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AY057380 mRNA. Translation: AAL25837.1 .
AY099358 mRNA. Translation: AAM44454.1 .
AY099359 mRNA. Translation: AAM44455.1 .
AY236500 mRNA. Translation: AAP69878.1 .
AK090478 mRNA. Translation: BAC03459.1 . Different initiation.
AC021593 Genomic DNA. No translation available.
BC028076 mRNA. No translation available.
BC110296 mRNA. Translation: AAI10297.1 .
CCDSi CCDS32749.1. [Q8IU68-1 ]
RefSeqi NP_689681.2. NM_152468.4. [Q8IU68-1 ]
XP_006721788.1. XM_006721725.1. [Q8IU68-2 ]
UniGenei Hs.592102.

3D structure databases

ProteinModelPortali Q8IU68.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

STRINGi 9606.ENSP00000325561.

Protein family/group databases

TCDBi 1.A.17.4.11. the calcium-dependent chloride channel (ca-clc) family.

PTM databases

PhosphoSitei Q8IU68.

Polymorphism databases

DMDMi 74714272.

Proteomic databases

PaxDbi Q8IU68.
PRIDEi Q8IU68.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000318430 ; ENSP00000325561 ; ENSG00000167895 . [Q8IU68-1 ]
ENST00000589691 ; ENSP00000467482 ; ENSG00000167895 . [Q8IU68-2 ]
GeneIDi 147138.
KEGGi hsa:147138.
UCSCi uc002jup.2. human. [Q8IU68-1 ]

Organism-specific databases

CTDi 147138.
GeneCardsi GC17P076126.
H-InvDB HIX0173689.
HGNCi HGNC:20474. TMC8.
HPAi HPA054429.
MIMi 226400. phenotype.
605829. gene.
neXtProti NX_Q8IU68.
Orphaneti 302. Epidermodysplasia verruciformis.
PharmGKBi PA134892288.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG70493.
GeneTreei ENSGT00760000119171.
HOGENOMi HOG000038033.
HOVERGENi HBG055908.
InParanoidi Q8IU68.
OMAi WCVVLKL.
OrthoDBi EOG73FQM9.
PhylomeDBi Q8IU68.
TreeFami TF313462.

Miscellaneous databases

ChiTaRSi TMC8. human.
GeneWikii TMC8.
GenomeRNAii 147138.
NextBioi 85549.
PROi Q8IU68.
SOURCEi Search...

Gene expression databases

Bgeei Q8IU68.
CleanExi HS_TMC8.
ExpressionAtlasi Q8IU68. baseline and differential.
Genevestigatori Q8IU68.

Family and domain databases

InterProi IPR012496. TMC.
[Graphical view ]
Pfami PF07810. TMC. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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 EV.
  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. "The nucleotide sequence of a long cDNA clone isolated from human spleen."
    Jikuya H., Takano J., Kikuno R., Nagase T., Ohara O.
    Submitted (JUL-2002) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT ILE-306.
    Tissue: Spleen.
  4. "DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage."
    Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R., Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A., Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J., Chang J.L.
    , Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J., DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D., Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A., Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.
    Nature 440:1045-1049(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  5. "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).
    Tissue: Blood.

Entry informationi

Entry nameiTMC8_HUMAN
AccessioniPrimary (citable) accession number: Q8IU68
Secondary accession number(s): Q2YDC0
, Q8IWU7, Q8N358, Q8NF04
Entry historyi
Integrated into UniProtKB/Swiss-Prot: December 6, 2005
Last sequence update: March 1, 2003
Last modified: October 29, 2014
This is version 89 of the entry and version 1 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

External Data

Dasty 3