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Q6UXY8 (TMC5_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified January 25, 2012. Version 59. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (4) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Transmembrane channel-like protein 5
Gene names
Name:TMC5
ORF Names:UNQ8238/PRO33604
OrganismHomo sapiens (Human)
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1006 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

Function

May function as ion channels, transporters or modulators of such.

Subcellular location

Membrane; Multi-pass membrane protein Potential.

Sequence similarities

Belongs to the TMC family.

Sequence caution

The sequence BAB14629.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

Ontologies

Keywords
   Cellular componentMembrane
   Coding sequence diversityAlternative splicing
Polymorphism
   DomainTransmembrane
Transmembrane helix
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Cellular componentintegral to membrane

Inferred from electronic annotation. Source: UniProtKB-KW

Complete GO annotation...

Alternative products

This entry describes 4 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q6UXY8-1)

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: Q6UXY8-2)

The sequence of this isoform differs from the canonical sequence as follows:
     859-916: Missing.
Isoform 3 (identifier: Q6UXY8-3)

The sequence of this isoform differs from the canonical sequence as follows:
     1-246: Missing.
     247-348: ENGHDYGSSE...LSECDWHKSP → MLSDDHVNEI...DTPGSSHETV
Isoform 4 (identifier: Q6UXY8-4)

The sequence of this isoform differs from the canonical sequence as follows:
     1-359: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 10061006Transmembrane channel-like protein 5
PRO_0000289966

Regions

Topological domain1 – 458458Extracellular Potential
Transmembrane459 – 47921Helical; Potential
Topological domain480 – 4856Cytoplasmic Potential
Transmembrane486 – 50823Helical; Potential
Topological domain509 – 52517Extracellular Potential
Transmembrane526 – 54621Helical; Potential
Topological domain547 – 61973Cytoplasmic Potential
Transmembrane620 – 64021Helical; Potential
Topological domain641 – 65414Extracellular Potential
Transmembrane655 – 67521Helical; Potential
Topological domain676 – 69823Cytoplasmic Potential
Transmembrane699 – 71921Helical; Potential
Topological domain720 – 73213Extracellular Potential
Transmembrane733 – 75321Helical; Potential
Topological domain754 – 78633Cytoplasmic Potential
Transmembrane787 – 80721Helical; Potential
Topological domain808 – 83528Extracellular Potential
Transmembrane836 – 85621Helical; Potential
Topological domain857 – 90044Cytoplasmic Potential
Transmembrane901 – 92121Helical; Potential
Topological domain922 – 100685Extracellular Potential
Compositional bias140 – 1434Poly-Ser

Natural variations

Alternative sequence1 – 359359Missing in isoform 4.
VSP_026043
Alternative sequence1 – 246246Missing in isoform 3.
VSP_026044
Alternative sequence247 – 348102ENGHD…WHKSP → MLSDDHVNEIIIQVENVSSG VQSHPSSNQIFQEKVLLDSS INMVLSISDIDVIDSQTVSK RNDQKGNQVLRFSTSLNESM SQTLHSLECMGIDTPGSSHE TV in isoform 3.
VSP_026045
Alternative sequence859 – 91658Missing in isoform 2.
VSP_026046
Natural variant3281S → N.
Corresponds to variant rs16972013 [ dbSNP | Ensembl ].
VAR_057285
Natural variant3551A → T.
Corresponds to variant rs36019638 [ dbSNP | Ensembl ].
VAR_061850

Experimental info

Sequence conflict4191N → D in CAH18212. Ref.5
Sequence conflict5471M → T in AAH38118. Ref.5

Sequences

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

Last modified November 30, 2010. Version 3.
Checksum: 7132E259B2FAF2EC

FASTA1,006114,797
        10         20         30         40         50         60 
MSAYYRNNWS EEDPDYPDYS GSQNRTQGYL KTQGYPDVPG PLNNPDYPGT RSNPYSVASR 

        70         80         90        100        110        120 
TRPDYPGSLA EPNYPRSLSN PDYSGTRSNA YSAASRTSPD HPTSLPEPDY SEFQSHPYHR 

       130        140        150        160        170        180 
ASSRQPDYPG SQRNPDFAGS SSSGNYAGSR THPDHFGSLE PDYPGAQSNS DHPGPRANLN 

       190        200        210        220        230        240 
HPGSRKNLEH TSFRINPYAD SLGKPDYPGA DIQPNSPPFF GEPDYPSAED NQNLPSTWRE 

       250        260        270        280        290        300 
PDYSDAENGH DYGSSETPKM TRGVLSRTSS IQPSFRHRSD DPVGSLWGEN DYPEGIEMAS 

       310        320        330        340        350        360 
MEMANSYGHS LPGAPGSGYV NPAYVGESGP VHAYGNPPLS ECDWHKSPQG QKLIASLIPM 

       370        380        390        400        410        420 
TSRDRIKAIR NQPRTMEEKR NLRKIVDKEK SKQTHRILQL NCCIQCLNSI SRAYRRSKNS 

       430        440        450        460        470        480 
LSEILNSISL WQKTLKIIGG KFGTSVLSYF NFLRWLLKFN IFSFILNFSF IIIPQFTVAK 

       490        500        510        520        530        540 
KNTLQFTGLE FFTGVGYFRD TVMYYGFYTN STIQHGNSGA SYNMQLAYIF TIGACLTTCF 

       550        560        570        580        590        600 
FSLLFSMAKY FRNNFINPHI YSGGITKLIF CWDFTVTHEK AVKLKQKNLS TEIRENLSEL 

       610        620        630        640        650        660 
RQENSKLTFN QLLTRFSAYM VAWVVSTGVA IACCAAVYYL AEYNLEFLKT HSNPGAVLLL 

       670        680        690        700        710        720 
PFVVSCINLA VPCIYSMFRL VERYEMPRHE VYVLLIRNIF LKISIIGILC YYWLNTVALS 

       730        740        750        760        770        780 
GEECWETLIG QDIYRLLLMD FVFSLVNSFL GEFLRRIIGM QLITSLGLQE FDIARNVLEL 

       790        800        810        820        830        840 
IYAQTLVWIG IFFCPLLPFI QMIMLFIMFY SKNISLMMNF QPPSKAWRAS QMMTFFIFLL 

       850        860        870        880        890        900 
FFPSFTGVLC TLAITIWRLK PSADCGPFRG LPLFIHSIYS WIDTLSTRPG YLWVVWIYRN 

       910        920        930        940        950        960 
LIGSVHFFFI LTLIVLIITY LYWQITEGRK IMIRLLHEQI INEGKDKMFL IEKLIKLQDM 

       970        980        990       1000 
EKKANPSSLV LERREVEQQG FLHLGEHDGS LDLRSRRSVQ EGNPRA 

« Hide

Isoform 2 [UniParc].

Checksum: E8434EA7798CC590
Show »

FASTA948108,061
Isoform 3 [UniParc].

Checksum: 1C9E6B58A899F775
Show »

FASTA76087,820
Isoform 4 [UniParc].

Checksum: CE0C71C7A117888B
Show »

FASTA64775,486

References

« Hide 'large scale' references
[1]"TMC and EVER genes belong to a larger novel family, the TMC gene family encoding transmembrane proteins."
Keresztes G., Mutai H., Heller S.
BMC Genomics 4:24-24(2003) [PubMed: 12812529] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3).
[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: 12906855] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3).
[3]"The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment."
Clark H.F., Gurney A.L., Abaya E., Baker K., Baldwin D.T., Brush J., Chen J., Chow B., Chui C., Crowley C., Currell B., Deuel B., Dowd P., Eaton D., Foster J.S., Grimaldi C., Gu Q., Hass P.E. expand/collapse author list , Heldens S., Huang A., Kim H.S., Klimowski L., Jin Y., Johnson S., Lee J., Lewis L., Liao D., Mark M.R., Robbie E., Sanchez C., Schoenfeld J., Seshagiri S., Simmons L., Singh J., Smith V., Stinson J., Vagts A., Vandlen R.L., Watanabe C., Wieand D., Woods K., Xie M.-H., Yansura D.G., Yi S., Yu G., Yuan J., Zhang M., Zhang Z., Goddard A.D., Wood W.I., Godowski P.J., Gray A.M.
Genome Res. 13:2265-2270(2003) [PubMed: 12975309] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
[4]"The sequence and analysis of duplication-rich human chromosome 16."
Martin J., Han C., Gordon L.A., Terry A., Prabhakar S., She X., Xie G., Hellsten U., Chan Y.M., Altherr M., Couronne O., Aerts A., Bajorek E., Black S., Blumer H., Branscomb E., Brown N.C., Bruno W.J. expand/collapse author list , Buckingham J.M., Callen D.F., Campbell C.S., Campbell M.L., Campbell E.W., Caoile C., Challacombe J.F., Chasteen L.A., Chertkov O., Chi H.C., Christensen M., Clark L.M., Cohn J.D., Denys M., Detter J.C., Dickson M., Dimitrijevic-Bussod M., Escobar J., Fawcett J.J., Flowers D., Fotopulos D., Glavina T., Gomez M., Gonzales E., Goodstein D., Goodwin L.A., Grady D.L., Grigoriev I., Groza M., Hammon N., Hawkins T., Haydu L., Hildebrand C.E., Huang W., Israni S., Jett J., Jewett P.B., Kadner K., Kimball H., Kobayashi A., Krawczyk M.-C., Leyba T., Longmire J.L., Lopez F., Lou Y., Lowry S., Ludeman T., Manohar C.F., Mark G.A., McMurray K.L., Meincke L.J., Morgan J., Moyzis R.K., Mundt M.O., Munk A.C., Nandkeshwar R.D., Pitluck S., Pollard M., Predki P., Parson-Quintana B., Ramirez L., Rash S., Retterer J., Ricke D.O., Robinson D.L., Rodriguez A., Salamov A., Saunders E.H., Scott D., Shough T., Stallings R.L., Stalvey M., Sutherland R.D., Tapia R., Tesmer J.G., Thayer N., Thompson L.S., Tice H., Torney D.C., Tran-Gyamfi M., Tsai M., Ulanovsky L.E., Ustaszewska A., Vo N., White P.S., Williams A.L., Wills P.L., Wu J.-R., Wu K., Yang J., DeJong P., Bruce D., Doggett N.A., Deaven L., Schmutz J., Grimwood J., Richardson P., Rokhsar D.S., Eichler E.E., Gilna P., Lucas S.M., Myers R.M., Rubin E.M., Pennacchio L.A.
Nature 432:988-994(2004) [PubMed: 15616553] [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: 15489334] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 3 AND 4).
Tissue: Testis.
[6]"The full-ORF clone resource of the German cDNA consortium."
Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I.
BMC Genomics 8:399-399(2007) [PubMed: 17974005] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 200-1006 (ISOFORM 1).
Tissue: Rectum tumor.
[7]"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: 14702039] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 667-1006.
Tissue: Placenta.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AY263164 mRNA. Translation: AAP78779.1.
AY236494 mRNA. Translation: AAP69872.1.
AY358155 mRNA. Translation: AAQ88522.1.
AC130456 Genomic DNA. No translation available.
BC027602 mRNA. Translation: AAH27602.1.
BC038118 mRNA. Translation: AAH38118.1.
CR749359 mRNA. Translation: CAH18212.1.
AK023655 mRNA. Translation: BAB14629.1. Different initiation.
IPIIPI00220470.
IPI00432771.
IPI00470897.
IPI00644372.
RefSeqNP_001098718.1. NM_001105248.1.
NP_001098719.1. NM_001105249.1.
NP_079056.2. NM_024780.4.
UniGeneHs.115838.

3D structure databases

ProteinModelPortalQ6UXY8.
ModBaseSearch...

Protein-protein interaction databases

IntActQ6UXY8. 1 interaction.
STRINGQ6UXY8.

Polymorphism databases

DMDM152061114.

Proteomic databases

PRIDEQ6UXY8.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000396229; ENSP00000379531; ENSG00000103534.
GeneID79838.
KEGGhsa:79838.
UCSCuc002dgb.2. human.
uc002dgc.2. human.
uc002dgd.1. human.
uc002dgf.2. human.

Organism-specific databases

CTD79838.
GeneCardsGC16P019422.
HGNCHGNC:22999. TMC5.
HPAHPA040810.
HPA042037.
neXtProtNX_Q6UXY8.
PharmGKBPA134923498.
GenAtlasSearch...

Phylogenomic databases

eggNOGprNOG14456.
GeneTreeENSGT00550000074255.
HOGENOMHBG505694.
HOVERGENHBG108587.
InParanoidQ6UXY8.
OMAELNCCAQ.
PhylomeDBQ6UXY8.

Gene expression databases

ArrayExpressQ6UXY8.
BgeeQ6UXY8.
CleanExHS_TMC5.
GenevestigatorQ6UXY8.

Family and domain databases

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

Other

NextBio69502.

Entry information

Entry nameTMC5_HUMAN
AccessionPrimary (citable) accession number: Q6UXY8
Secondary accession number(s): Q68DK8 expand/collapse secondary AC list , Q8IY20, Q8NHV6, Q9H8I7
Entry history
Integrated into UniProtKB/Swiss-Prot: May 29, 2007
Last sequence update: November 30, 2010
Last modified: January 25, 2012
This is version 59 of the entry and version 3 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

Human chromosome 16

Human chromosome 16: entries, gene names and cross-references to MIM

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

SIMILARITY comments

Index of protein domains and families