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Protein

Transmembrane channel-like protein 3

Gene

TMC3

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

Functioni

Probable ion channel.By similarity

GO - Molecular functioni

  • ion channel activity Source: GO_Central
  • mechanosensitive ion channel activity Source: GO_Central

Keywordsi

Molecular functionIon channel
Biological processIon transport, Transport

Names & Taxonomyi

Protein namesi
Recommended name:
Transmembrane channel-like protein 3
Gene namesi
Name:TMC3Imported
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 15

Organism-specific databases

EuPathDBiHostDB:ENSG00000188869.12
HGNCiHGNC:22995 TMC3
neXtProtiNX_Q7Z5M5

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 148CytoplasmicSequence analysisAdd BLAST148
Transmembranei149 – 169HelicalSequence analysisAdd BLAST21
Topological domaini170 – 192ExtracellularSequence analysisAdd BLAST23
Transmembranei193 – 213HelicalSequence analysisAdd BLAST21
Topological domaini214 – 225CytoplasmicSequence analysisAdd BLAST12
Transmembranei226 – 246HelicalSequence analysisAdd BLAST21
Topological domaini247 – 319ExtracellularSequence analysisAdd BLAST73
Transmembranei320 – 340HelicalSequence analysisAdd BLAST21
Topological domaini341 – 361CytoplasmicSequence analysisAdd BLAST21
Transmembranei362 – 382HelicalSequence analysisAdd BLAST21
Topological domaini383 – 393ExtracellularSequence analysisAdd BLAST11
Transmembranei394 – 414HelicalSequence analysisAdd BLAST21
Topological domaini415 – 508CytoplasmicSequence analysisAdd BLAST94
Transmembranei509 – 529HelicalSequence analysisAdd BLAST21
Topological domaini530 – 569ExtracellularSequence analysisAdd BLAST40
Transmembranei570 – 590HelicalSequence analysisAdd BLAST21
Topological domaini591 – 618CytoplasmicSequence analysisAdd BLAST28
Transmembranei619 – 639HelicalSequence analysisAdd BLAST21
Topological domaini640 – 679ExtracellularSequence analysisAdd BLAST40
Transmembranei680 – 700HelicalSequence analysisAdd BLAST21
Topological domaini701 – 1100CytoplasmicSequence analysisAdd BLAST400

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Organism-specific databases

OpenTargetsiENSG00000188869

Polymorphism and mutation databases

BioMutaiTMC3
DMDMi325511376

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002596021 – 1100Transmembrane channel-like protein 3Add BLAST1100

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi264N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

EPDiQ7Z5M5
PaxDbiQ7Z5M5
PeptideAtlasiQ7Z5M5
PRIDEiQ7Z5M5
ProteomicsDBi69329
69330 [Q7Z5M5-2]

PTM databases

iPTMnetiQ7Z5M5
PhosphoSitePlusiQ7Z5M5

Expressioni

Gene expression databases

BgeeiENSG00000188869 Expressed in 41 organ(s), highest expression level in pancreas
CleanExiHS_TMC3
ExpressionAtlasiQ7Z5M5 baseline and differential

Organism-specific databases

HPAiHPA040265
HPA040510

Interactioni

Protein-protein interaction databases

STRINGi9606.ENSP00000352413

Structurei

3D structure databases

ProteinModelPortaliQ7Z5M5
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the TMC family.Sequence analysis

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IF2J Eukaryota
ENOG410XTGF LUCA
GeneTreeiENSGT00760000119171
HOGENOMiHOG000168231
HOVERGENiHBG036209
InParanoidiQ7Z5M5
KOiK21988
PhylomeDBiQ7Z5M5
TreeFamiTF313462

Family and domain databases

InterProiView protein in InterPro
IPR038900 TMC
IPR012496 TMC_dom
PANTHERiPTHR23302 PTHR23302, 1 hit
PfamiView protein in Pfam
PF07810 TMC, 1 hit

Sequences (2+)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All

Isoform 11 Publication (identifier: Q7Z5M5-1) [UniParc]FASTAAdd to basket

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
MKTSKASQRY RGIRRNASQC YLYQESLLLS NLDDSFSADE TGDSNDPEQI
60 70 80 90 100
FQNIQFQKDL MANIRCRPWT MGQKLRALRQ AKNIVLKFEG RLTRTRGYQA
110 120 130 140 150
AGAELWRKFA RLACNFVVIF IPWEMRIKKI ESHFGSGVAS YFIFLRWLFG
160 170 180 190 200
INIVLTIMTG AFIVIPELIA GQPFGSTARK TIPKEQVSSA QDLDTVWSLG
210 220 230 240 250
GYLQYSVLFY GYYGRERKIG RAGYRLPLAY FLVGMAVFAY SFIILLKKMA
260 270 280 290 300
KNSRTSLASA SNENYTFCWR VFCAWDYLIG NPEAAESKTA AIVNSIREAI
310 320 330 340 350
LEEQEKKKSK NLAVTICLRI IANILVLLSL AGSIYLIYFV VDRSQKLEQS
360 370 380 390 400
KKELTLWEKN EVSVVVSLVT MIAPSAFDLI AALEMYHPRT TLRFQLARVL
410 420 430 440 450
VLYLGNLYSL IIALLDKVNS MSIEEMATKN NTSHWIDSTT FFATRTAPEE
460 470 480 490 500
EKWSTSRPGM GLRRNNTWAL EETSISAYTM PLIKANKTSL HTQSPQDQCW
510 520 530 540 550
ETYVGQEMLK LSIIDMLFTV ASILLIDFFR GLFVRYLSDY WCWDLESKFP
560 570 580 590 600
EYGEFKIAEN VLHLVYNQGM IWMGAFFSPC LPAFNVLKLI GLMYLRSWAV
610 620 630 640 650
LTCNVPHQQV FRASRSNNFY LAMLLFMLFL CMLPTIFAIV RYKPSLNCGP
660 670 680 690 700
FSGQEKIYDI VSETIEKDFP VWFGSVVGHI SSPVVILPAV LLLFMLIYYL
710 720 730 740 750
QSIARSLKLS NHQLKMQIQN ARSEDKKKVA QMVEARIQTQ EESTKKLPND
760 770 780 790 800
SDLTSQLSSA HSGTPQNNGN VAHFDSGSSK SGRIETVAQS MPQSPRPGDR
810 820 830 840 850
APSSPLPGVP KSRLEHETNR YLHGLCASTS DLHRNRSRTP MTFTTHIEDV
860 870 880 890 900
HSEPLFRKDF QQINPPHRGP QASTLLAQGP RPHAPRYYVI NECDSYKKKH
910 920 930 940 950
LNVWPERHFK IDASGDIVEL YPRNVRQYAS RVPRQPPSPQ LSEEEEETPS
960 970 980 990 1000
RDWIKRSLPP RSLIDLRRAP HFYIGERSES QTRDPEHQGR VHYKSWNEDF
1010 1020 1030 1040 1050
EGHLERPAYV PRKPRSRNFQ YPQPPLKPRG KPRFEPSLTE SDSVSAASSS
1060 1070 1080 1090 1100
DQQNSSADQY LQVTHSQGRF PRSVGQPSRR KAKSGQELTV DLDDLICSDV
Length:1,100
Mass (Da):125,685
Last modified:March 8, 2011 - v3
Checksum:i727B3B1B766FF6EA
GO
Isoform 21 Publication (identifier: Q7Z5M5-2) [UniParc]FASTAAdd to basket

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

Show »
Length:724
Mass (Da):82,867
Checksum:i3762EBE6905D678E
GO

Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H0YK69H0YK69_HUMAN
Transmembrane channel-like protein
TMC3
1,101Annotation score:

Sequence cautioni

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

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti30Missing in AAP78778 (PubMed:12812529).Curated1
Sequence conflicti168L → V in AAP78778 (PubMed:12812529).Curated1
Sequence conflicti248K → R in AAP78778 (PubMed:12812529).Curated1
Sequence conflicti734E → EGK in AAP78778 (PubMed:12812529).Curated1
Sequence conflicti735A → AA in AAP78778 (PubMed:12812529).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_066557196V → I. Corresponds to variant dbSNP:rs7497202Ensembl.1
Natural variantiVAR_066558893C → Y1 PublicationCorresponds to variant dbSNP:rs11636318Ensembl.1
Natural variantiVAR_0665591012R → K1 PublicationCorresponds to variant dbSNP:rs8031046Ensembl.1
Natural variantiVAR_0665601099D → N1 PublicationCorresponds to variant dbSNP:rs4417518Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_052201722 – 724RSE → SIS in isoform 2. 1 Publication3
Alternative sequenceiVSP_052202725 – 1100Missing in isoform 2. 1 PublicationAdd BLAST376

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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
CCDSiCCDS45324.1 [Q7Z5M5-1]
RefSeqiNP_001074001.1, NM_001080532.1 [Q7Z5M5-1]
UniGeneiHs.253489

Genome annotation databases

EnsembliENST00000359440; ENSP00000352413; ENSG00000188869 [Q7Z5M5-1]
GeneIDi342125
KEGGihsa:342125
UCSCiuc059mlt.1 human [Q7Z5M5-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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
CCDSiCCDS45324.1 [Q7Z5M5-1]
RefSeqiNP_001074001.1, NM_001080532.1 [Q7Z5M5-1]
UniGeneiHs.253489

3D structure databases

ProteinModelPortaliQ7Z5M5
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

STRINGi9606.ENSP00000352413

PTM databases

iPTMnetiQ7Z5M5
PhosphoSitePlusiQ7Z5M5

Polymorphism and mutation databases

BioMutaiTMC3
DMDMi325511376

Proteomic databases

EPDiQ7Z5M5
PaxDbiQ7Z5M5
PeptideAtlasiQ7Z5M5
PRIDEiQ7Z5M5
ProteomicsDBi69329
69330 [Q7Z5M5-2]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000359440; ENSP00000352413; ENSG00000188869 [Q7Z5M5-1]
GeneIDi342125
KEGGihsa:342125
UCSCiuc059mlt.1 human [Q7Z5M5-1]

Organism-specific databases

CTDi342125
EuPathDBiHostDB:ENSG00000188869.12
GeneCardsiTMC3
H-InvDBiHIX0202197
HGNCiHGNC:22995 TMC3
HPAiHPA040265
HPA040510
neXtProtiNX_Q7Z5M5
OpenTargetsiENSG00000188869
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IF2J Eukaryota
ENOG410XTGF LUCA
GeneTreeiENSGT00760000119171
HOGENOMiHOG000168231
HOVERGENiHBG036209
InParanoidiQ7Z5M5
KOiK21988
PhylomeDBiQ7Z5M5
TreeFamiTF313462

Miscellaneous databases

GenomeRNAii342125
PROiPR:Q7Z5M5

Gene expression databases

BgeeiENSG00000188869 Expressed in 41 organ(s), highest expression level in pancreas
CleanExiHS_TMC3
ExpressionAtlasiQ7Z5M5 baseline and differential

Family and domain databases

InterProiView protein in InterPro
IPR038900 TMC
IPR012496 TMC_dom
PANTHERiPTHR23302 PTHR23302, 1 hit
PfamiView protein in Pfam
PF07810 TMC, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiTMC3_HUMAN
AccessioniPrimary (citable) accession number: Q7Z5M5
Secondary accession number(s): A2RTY2, B2RXJ3, Q7Z405
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 31, 2006
Last sequence update: March 8, 2011
Last modified: November 7, 2018
This is version 97 of the entry and version 3 of the sequence. See 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. SIMILARITY comments
    Index of protein domains and families
  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. Human chromosome 15
    Human chromosome 15: entries, gene names and cross-references to MIM
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