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Protein

Transmembrane channel-like protein 3

Gene

TMC3

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 3 out of 5-Experimental evidence at transcript leveli

Functioni

Probable ion channel.By similarity

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Ion channel

Keywords - Biological processi

Ion transport, Transport

Enzyme and pathway databases

BioCyciZFISH:G66-32947-MONOMER.

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

HGNCiHGNC:22995. TMC3.

Subcellular locationi

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

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Organism-specific databases

DisGeNETi342125.
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...)Sequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

PaxDbiQ7Z5M5.
PeptideAtlasiQ7Z5M5.
PRIDEiQ7Z5M5.

PTM databases

iPTMnetiQ7Z5M5.
PhosphoSitePlusiQ7Z5M5.

Expressioni

Gene expression databases

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.
PhylomeDBiQ7Z5M5.
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. AlignAdd to basket

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

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 rs7497202dbSNPEnsembl.1
Natural variantiVAR_066558893C → Y.1 PublicationCorresponds to variant rs11636318dbSNPEnsembl.1
Natural variantiVAR_0665591012R → K.1 PublicationCorresponds to variant rs8031046dbSNPEnsembl.1
Natural variantiVAR_0665601099D → N.1 PublicationCorresponds to variant rs4417518dbSNPEnsembl.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

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

PaxDbiQ7Z5M5.
PeptideAtlasiQ7Z5M5.
PRIDEiQ7Z5M5.

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.
DisGeNETi342125.
GeneCardsiTMC3.
H-InvDBHIX0202197.
HGNCiHGNC:22995. TMC3.
HPAiHPA040265.
HPA040510.
neXtProtiNX_Q7Z5M5.
OpenTargetsiENSG00000188869.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IF2J. Eukaryota.
ENOG410XTGF. LUCA.
GeneTreeiENSGT00760000119171.
HOGENOMiHOG000168231.
HOVERGENiHBG036209.
InParanoidiQ7Z5M5.
PhylomeDBiQ7Z5M5.
TreeFamiTF313462.

Enzyme and pathway databases

BioCyciZFISH:G66-32947-MONOMER.

Miscellaneous databases

GenomeRNAii342125.
PROiQ7Z5M5.

Gene expression databases

CleanExiHS_TMC3.
ExpressionAtlasiQ7Z5M5. baseline and differential.

Family and domain databases

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

Entry informationi

Entry nameiTMC3_HUMAN
AccessioniPrimary (citable) accession number: Q7Z5M5
Secondary accession number(s): A2RTY2, B2RXJ3, Q7Z405
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 31, 2006
Last sequence update: March 8, 2011
Last modified: November 2, 2016
This is version 87 of the entry and version 3 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 15
    Human chromosome 15: 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. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.