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Q7Z5M5 (TMC3_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 71. 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 3
Gene names
Name:TMC3
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1100 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

Function

Probable ion channel By similarity.

Subcellular location

Membrane; Multi-pass membrane protein Potential.

Sequence similarities

Belongs to the TMC family.

Sequence caution

The sequence AAP78778.1 differs from that shown. Reason: Contaminating sequence. Due to an insert of 27 undefined residues.

Ontologies

Keywords
   Biological processIon transport
Transport
   Cellular componentMembrane
   Coding sequence diversityAlternative splicing
Polymorphism
   DomainTransmembrane
Transmembrane helix
   Molecular functionIon channel
   PTMGlycoprotein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_procession transport

Inferred from electronic annotation. Source: UniProtKB-KW

   Cellular_componentintegral component of membrane

Inferred from electronic annotation. Source: UniProtKB-KW

Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 Ref.1 (identifier: Q7Z5M5-1)

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 Ref.2 (identifier: Q7Z5M5-2)

The sequence of this isoform differs from the canonical sequence as follows:
     722-724: RSE → SIS
     725-1100: Missing.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 11001100Transmembrane channel-like protein 3
PRO_0000259602

Regions

Topological domain1 – 148148Cytoplasmic Potential
Transmembrane149 – 16921Helical; Potential
Topological domain170 – 19223Extracellular Potential
Transmembrane193 – 21321Helical; Potential
Topological domain214 – 22512Cytoplasmic Potential
Transmembrane226 – 24621Helical; Potential
Topological domain247 – 31973Extracellular Potential
Transmembrane320 – 34021Helical; Potential
Topological domain341 – 36121Cytoplasmic Potential
Transmembrane362 – 38221Helical; Potential
Topological domain383 – 39311Extracellular Potential
Transmembrane394 – 41421Helical; Potential
Topological domain415 – 50894Cytoplasmic Potential
Transmembrane509 – 52921Helical; Potential
Topological domain530 – 56940Extracellular Potential
Transmembrane570 – 59021Helical; Potential
Topological domain591 – 61828Cytoplasmic Potential
Transmembrane619 – 63921Helical; Potential
Topological domain640 – 67940Extracellular Potential
Transmembrane680 – 70021Helical; Potential
Topological domain701 – 1100400Cytoplasmic Potential

Amino acid modifications

Glycosylation2641N-linked (GlcNAc...) Potential

Natural variations

Alternative sequence722 – 7243RSE → SIS in isoform 2.
VSP_052201
Alternative sequence725 – 1100376Missing in isoform 2.
VSP_052202
Natural variant1961V → I.
Corresponds to variant rs7497202 [ dbSNP | Ensembl ].
VAR_066557
Natural variant8931C → Y. Ref.4
Corresponds to variant rs11636318 [ dbSNP | Ensembl ].
VAR_066558
Natural variant10121R → K. Ref.4
Corresponds to variant rs8031046 [ dbSNP | Ensembl ].
VAR_066559
Natural variant10991D → N. Ref.4
Corresponds to variant rs4417518 [ dbSNP | Ensembl ].
VAR_066560

Experimental info

Sequence conflict301Missing in AAP78778. Ref.1
Sequence conflict1681L → V in AAP78778. Ref.1
Sequence conflict2481K → R in AAP78778. Ref.1
Sequence conflict7341E → EGK in AAP78778. Ref.1
Sequence conflict7351A → AA in AAP78778. Ref.1

Sequences

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

Last modified March 8, 2011. Version 3.
Checksum: 727B3B1B766FF6EA

FASTA1,100125,685
        10         20         30         40         50         60 
MKTSKASQRY RGIRRNASQC YLYQESLLLS NLDDSFSADE TGDSNDPEQI FQNIQFQKDL 

        70         80         90        100        110        120 
MANIRCRPWT MGQKLRALRQ AKNIVLKFEG RLTRTRGYQA AGAELWRKFA RLACNFVVIF 

       130        140        150        160        170        180 
IPWEMRIKKI ESHFGSGVAS YFIFLRWLFG INIVLTIMTG AFIVIPELIA GQPFGSTARK 

       190        200        210        220        230        240 
TIPKEQVSSA QDLDTVWSLG GYLQYSVLFY GYYGRERKIG RAGYRLPLAY FLVGMAVFAY 

       250        260        270        280        290        300 
SFIILLKKMA KNSRTSLASA SNENYTFCWR VFCAWDYLIG NPEAAESKTA AIVNSIREAI 

       310        320        330        340        350        360 
LEEQEKKKSK NLAVTICLRI IANILVLLSL AGSIYLIYFV VDRSQKLEQS KKELTLWEKN 

       370        380        390        400        410        420 
EVSVVVSLVT MIAPSAFDLI AALEMYHPRT TLRFQLARVL VLYLGNLYSL IIALLDKVNS 

       430        440        450        460        470        480 
MSIEEMATKN NTSHWIDSTT FFATRTAPEE EKWSTSRPGM GLRRNNTWAL EETSISAYTM 

       490        500        510        520        530        540 
PLIKANKTSL HTQSPQDQCW ETYVGQEMLK LSIIDMLFTV ASILLIDFFR GLFVRYLSDY 

       550        560        570        580        590        600 
WCWDLESKFP EYGEFKIAEN VLHLVYNQGM IWMGAFFSPC LPAFNVLKLI GLMYLRSWAV 

       610        620        630        640        650        660 
LTCNVPHQQV FRASRSNNFY LAMLLFMLFL CMLPTIFAIV RYKPSLNCGP FSGQEKIYDI 

       670        680        690        700        710        720 
VSETIEKDFP VWFGSVVGHI SSPVVILPAV LLLFMLIYYL QSIARSLKLS NHQLKMQIQN 

       730        740        750        760        770        780 
ARSEDKKKVA QMVEARIQTQ EESTKKLPND SDLTSQLSSA HSGTPQNNGN VAHFDSGSSK 

       790        800        810        820        830        840 
SGRIETVAQS MPQSPRPGDR APSSPLPGVP KSRLEHETNR YLHGLCASTS DLHRNRSRTP 

       850        860        870        880        890        900 
MTFTTHIEDV HSEPLFRKDF QQINPPHRGP QASTLLAQGP RPHAPRYYVI NECDSYKKKH 

       910        920        930        940        950        960 
LNVWPERHFK IDASGDIVEL YPRNVRQYAS RVPRQPPSPQ LSEEEEETPS RDWIKRSLPP 

       970        980        990       1000       1010       1020 
RSLIDLRRAP HFYIGERSES QTRDPEHQGR VHYKSWNEDF EGHLERPAYV PRKPRSRNFQ 

      1030       1040       1050       1060       1070       1080 
YPQPPLKPRG KPRFEPSLTE SDSVSAASSS DQQNSSADQY LQVTHSQGRF PRSVGQPSRR 

      1090       1100 
KAKSGQELTV DLDDLICSDV 

« Hide

Isoform 2 [UniParc].

Checksum: 3762EBE6905D678E
Show »

FASTA72482,867

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] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
[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 2).
[3]"Analysis of the DNA sequence and duplication history of human chromosome 15."
Zody M.C., Garber M., Sharpe T., Young S.K., Rowen L., O'Neill K., Whittaker C.A., Kamal M., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Kodira C.D., Madan A., Qin S., Yang X., Abbasi N., Abouelleil A. expand/collapse author list , Arachchi H.M., Baradarani L., Birditt B., Bloom S., Bloom T., Borowsky M.L., Burke J., Butler J., Cook A., DeArellano K., DeCaprio D., Dorris L. III, Dors M., Eichler E.E., Engels R., Fahey J., Fleetwood P., Friedman C., Gearin G., Hall J.L., Hensley G., Johnson E., Jones C., Kamat A., Kaur A., Locke D.P., Madan A., Munson G., Jaffe D.B., Lui A., Macdonald P., Mauceli E., Naylor J.W., Nesbitt R., Nicol R., O'Leary S.B., Ratcliffe A., Rounsley S., She X., Sneddon K.M.B., Stewart S., Sougnez C., Stone S.M., Topham K., Vincent D., Wang S., Zimmer A.R., Birren B.W., Hood L., Lander E.S., Nusbaum C.
Nature 440:671-675(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]"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), VARIANTS TYR-893; LYS-1012 AND ASN-1099.
Tissue: Heart and Lung.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AY263163 mRNA. Translation: AAP78778.1. Sequence problems.
AY236490 mRNA. Translation: AAP69868.1.
AC103858 Genomic DNA. No translation available.
BC132679 mRNA. Translation: AAI32680.1.
BC143410 mRNA. Translation: AAI43411.1.
BC157874 mRNA. Translation: AAI57875.1.
CCDSCCDS45324.1. [Q7Z5M5-1]
RefSeqNP_001074001.1. NM_001080532.1. [Q7Z5M5-1]
UniGeneHs.253489.

3D structure databases

ProteinModelPortalQ7Z5M5.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

STRING9606.ENSP00000352413.

PTM databases

PhosphoSiteQ7Z5M5.

Polymorphism databases

DMDM325511376.

Proteomic databases

PaxDbQ7Z5M5.
PRIDEQ7Z5M5.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000359440; ENSP00000352413; ENSG00000188869. [Q7Z5M5-1]
GeneID342125.
KEGGhsa:342125.
UCSCuc002bgp.3. human. [Q7Z5M5-2]
uc021ssj.1. human. [Q7Z5M5-1]

Organism-specific databases

CTD342125.
GeneCardsGC15M081624.
H-InvDBHIX0202197.
HGNCHGNC:22995. TMC3.
HPAHPA040265.
HPA040510.
neXtProtNX_Q7Z5M5.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG78939.
HOGENOMHOG000168231.
HOVERGENHBG036209.
InParanoidQ7Z5M5.
PhylomeDBQ7Z5M5.
TreeFamTF313462.

Gene expression databases

CleanExHS_TMC3.
GenevestigatorQ7Z5M5.

Family and domain databases

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

Other

GenomeRNAi342125.
NextBio98231.
PROQ7Z5M5.

Entry information

Entry nameTMC3_HUMAN
AccessionPrimary (citable) accession number: Q7Z5M5
Secondary accession number(s): A2RTY2, B2RXJ3, Q7Z405
Entry history
Integrated into UniProtKB/Swiss-Prot: October 31, 2006
Last sequence update: March 8, 2011
Last modified: July 9, 2014
This is version 71 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

SIMILARITY comments

Index of protein domains and families

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 15

Human chromosome 15: entries, gene names and cross-references to MIM