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Q7Z5M5

- TMC3_HUMAN

UniProt

Q7Z5M5 - TMC3_HUMAN

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Protein

Transmembrane channel-like protein 3

Gene

TMC3

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

Functioni

Probable ion channel.By similarity

GO - Biological processi

  1. ion transport Source: UniProtKB-KW
Complete GO annotation...

Keywords - Molecular functioni

Ion channel

Keywords - Biological processi

Ion 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
ProteomesiUP000005640: Chromosome 15

Organism-specific databases

HGNCiHGNC:22995. TMC3.

Subcellular locationi

Membrane Sequence Analysis; Multi-pass membrane protein Sequence Analysis

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 148148CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei149 – 16921HelicalSequence AnalysisAdd
BLAST
Topological domaini170 – 19223ExtracellularSequence AnalysisAdd
BLAST
Transmembranei193 – 21321HelicalSequence AnalysisAdd
BLAST
Topological domaini214 – 22512CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei226 – 24621HelicalSequence AnalysisAdd
BLAST
Topological domaini247 – 31973ExtracellularSequence AnalysisAdd
BLAST
Transmembranei320 – 34021HelicalSequence AnalysisAdd
BLAST
Topological domaini341 – 36121CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei362 – 38221HelicalSequence AnalysisAdd
BLAST
Topological domaini383 – 39311ExtracellularSequence AnalysisAdd
BLAST
Transmembranei394 – 41421HelicalSequence AnalysisAdd
BLAST
Topological domaini415 – 50894CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei509 – 52921HelicalSequence AnalysisAdd
BLAST
Topological domaini530 – 56940ExtracellularSequence AnalysisAdd
BLAST
Transmembranei570 – 59021HelicalSequence AnalysisAdd
BLAST
Topological domaini591 – 61828CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei619 – 63921HelicalSequence AnalysisAdd
BLAST
Topological domaini640 – 67940ExtracellularSequence AnalysisAdd
BLAST
Transmembranei680 – 70021HelicalSequence AnalysisAdd
BLAST
Topological domaini701 – 1100400CytoplasmicSequence AnalysisAdd
BLAST

GO - Cellular componenti

  1. integral component of membrane Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Membrane

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 11001100Transmembrane channel-like protein 3PRO_0000259602Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi264 – 2641N-linked (GlcNAc...)Sequence Analysis

Keywords - PTMi

Glycoprotein

Proteomic databases

PaxDbiQ7Z5M5.
PRIDEiQ7Z5M5.

PTM databases

PhosphoSiteiQ7Z5M5.

Expressioni

Gene expression databases

CleanExiHS_TMC3.
ExpressionAtlasiQ7Z5M5. baseline.
GenevestigatoriQ7Z5M5.

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

eggNOGiNOG78939.
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. Align

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

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti30 – 301Missing in AAP78778. (PubMed:12812529)Curated
Sequence conflicti168 – 1681L → V in AAP78778. (PubMed:12812529)Curated
Sequence conflicti248 – 2481K → R in AAP78778. (PubMed:12812529)Curated
Sequence conflicti734 – 7341E → EGK in AAP78778. (PubMed:12812529)Curated
Sequence conflicti735 – 7351A → AA in AAP78778. (PubMed:12812529)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti196 – 1961V → I.
Corresponds to variant rs7497202 [ dbSNP | Ensembl ].
VAR_066557
Natural varianti893 – 8931C → Y.1 Publication
Corresponds to variant rs11636318 [ dbSNP | Ensembl ].
VAR_066558
Natural varianti1012 – 10121R → K.1 Publication
Corresponds to variant rs8031046 [ dbSNP | Ensembl ].
VAR_066559
Natural varianti1099 – 10991D → N.1 Publication
Corresponds to variant rs4417518 [ dbSNP | Ensembl ].
VAR_066560

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei722 – 7243RSE → SIS in isoform 2. 1 PublicationVSP_052201
Alternative sequencei725 – 1100376Missing in isoform 2. 1 PublicationVSP_052202Add
BLAST

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.
UCSCiuc002bgp.3. human. [Q7Z5M5-2]
uc021ssj.1. human. [Q7Z5M5-1]

Polymorphism databases

DMDMi325511376.

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 .
CCDSi CCDS45324.1. [Q7Z5M5-1 ]
RefSeqi NP_001074001.1. NM_001080532.1. [Q7Z5M5-1 ]
UniGenei Hs.253489.

3D structure databases

ProteinModelPortali Q7Z5M5.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

STRINGi 9606.ENSP00000352413.

PTM databases

PhosphoSitei Q7Z5M5.

Polymorphism databases

DMDMi 325511376.

Proteomic databases

PaxDbi Q7Z5M5.
PRIDEi Q7Z5M5.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000359440 ; ENSP00000352413 ; ENSG00000188869 . [Q7Z5M5-1 ]
GeneIDi 342125.
KEGGi hsa:342125.
UCSCi uc002bgp.3. human. [Q7Z5M5-2 ]
uc021ssj.1. human. [Q7Z5M5-1 ]

Organism-specific databases

CTDi 342125.
GeneCardsi GC15M081624.
H-InvDB HIX0202197.
HGNCi HGNC:22995. TMC3.
HPAi HPA040265.
HPA040510.
neXtProti NX_Q7Z5M5.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG78939.
GeneTreei ENSGT00760000119171.
HOGENOMi HOG000168231.
HOVERGENi HBG036209.
InParanoidi Q7Z5M5.
PhylomeDBi Q7Z5M5.
TreeFami TF313462.

Miscellaneous databases

GenomeRNAii 342125.
NextBioi 98231.
PROi Q7Z5M5.

Gene expression databases

CleanExi HS_TMC3.
ExpressionAtlasi Q7Z5M5. baseline.
Genevestigatori Q7Z5M5.

Family and domain databases

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

Publicationsi

« Hide 'large scale' publications
  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.
    , 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.

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: October 29, 2014
This is version 73 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

External Data

Dasty 3