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Protein

Transmembrane channel-like protein 7

Gene

TMC7

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

Functioni

Probable ion channel.By similarity

GO - Biological processi

Keywordsi

Molecular functionIon channel
Biological processIon transport, Transport

Names & Taxonomyi

Protein namesi
Recommended name:
Transmembrane channel-like protein 7
Gene namesi
Name:TMC7
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 16

Organism-specific databases

EuPathDBiHostDB:ENSG00000170537.12
HGNCiHGNC:23000 TMC7
neXtProtiNX_Q7Z402

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 – 168ExtracellularSequence analysisAdd BLAST168
Transmembranei169 – 189HelicalSequence analysisAdd BLAST21
Topological domaini190 – 219CytoplasmicSequence analysisAdd BLAST30
Transmembranei220 – 240HelicalSequence analysisAdd BLAST21
Topological domaini241 – 263ExtracellularSequence analysisAdd BLAST23
Transmembranei264 – 284HelicalSequence analysisAdd BLAST21
Topological domaini285 – 362CytoplasmicSequence analysisAdd BLAST78
Transmembranei363 – 383HelicalSequence analysisAdd BLAST21
Topological domaini384 – 404ExtracellularSequence analysisAdd BLAST21
Transmembranei405 – 425HelicalSequence analysisAdd BLAST21
Topological domaini426 – 494CytoplasmicSequence analysisAdd BLAST69
Transmembranei495 – 515HelicalSequence analysisAdd BLAST21
Topological domaini516 – 555ExtracellularSequence analysisAdd BLAST40
Transmembranei556 – 576HelicalSequence analysisAdd BLAST21
Topological domaini577 – 601CytoplasmicSequence analysisAdd BLAST25
Transmembranei602 – 622HelicalSequence analysisAdd BLAST21
Topological domaini623 – 665ExtracellularSequence analysisAdd BLAST43
Transmembranei666 – 686HelicalSequence analysisAdd BLAST21
Topological domaini687 – 723CytoplasmicSequence analysisAdd BLAST37

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Organism-specific databases

OpenTargetsiENSG00000170537
PharmGKBiPA134988099

Polymorphism and mutation databases

BioMutaiTMC7
DMDMi74713450

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002871651 – 723Transmembrane channel-like protein 7Add BLAST723

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi24N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi84N-linked (GlcNAc...) asparagineSequence analysis1
Modified residuei89PhosphoserineCombined sources1
Glycosylationi96N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi259N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi638N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Glycoprotein, Phosphoprotein

Proteomic databases

EPDiQ7Z402
MaxQBiQ7Z402
PaxDbiQ7Z402
PeptideAtlasiQ7Z402
PRIDEiQ7Z402
ProteomicsDBi69105

PTM databases

iPTMnetiQ7Z402
PhosphoSitePlusiQ7Z402

Expressioni

Gene expression databases

BgeeiENSG00000170537
CleanExiHS_TMC7
ExpressionAtlasiQ7Z402 baseline and differential
GenevisibleiQ7Z402 HS

Organism-specific databases

HPAiHPA029465

Interactioni

Protein-protein interaction databases

BioGridi122988, 4 interactors
STRINGi9606.ENSP00000304710

Structurei

3D structure databases

ProteinModelPortaliQ7Z402
SMRiQ7Z402
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the TMC family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IIGT Eukaryota
ENOG410Y7QP LUCA
GeneTreeiENSGT00760000119171
HOVERGENiHBG101778
InParanoidiQ7Z402
KOiK21988
PhylomeDBiQ7Z402
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

Isoform 1 (identifier: Q7Z402-1) [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
MSESSGSALQ PGRPSRQPAV HPENLSLDSS CFSSPPVNFL QELPSYRSIA
60 70 80 90 100
RRRTTVHSRD KQSGTLLKPT DSYSSQLEDR IAENLSSHSL RNYALNISEK
110 120 130 140 150
RRLRDIQETQ MKYLSEWDQW KRYSSKSWKR FLEKAREMTT HLELWREDIR
160 170 180 190 200
SIEGKFGTGI QSYFSFLRFL VLLNLVIFLI IFMLVLLPVL LTKYKITNSS
210 220 230 240 250
FVLIPFKDMD KQCTVYPVSS SGLIYFYSYI IDLLSGTGFL EETSLFYGHY
260 270 280 290 300
TIDGVKFQNF TYDLPLAYLL STIASLALSL LWIVKRSVEG FKINLIRSEE
310 320 330 340 350
HFQSYCNKIF AGWDFCITNR SMADLKHSSL RYELRADLEE ERMRQKIAER
360 370 380 390 400
TSEETIRIYS LRLFLNCIVL AVLGACFYAI YVATVFSQEH MKKEIDKMVF
410 420 430 440 450
GENLFILYLP SIVITLANFI TPMIFAKIIR YEDYSPGFEI RLTILRCVFM
460 470 480 490 500
RLATICVLVF TLGSKITSCD DDTCDLCGYN QKLYPCWETQ VGQEMYKLMI
510 520 530 540 550
FDFIIILAVT LFVDFPRKLL VTYCSSCKLI QCWGQQEFAI PDNVLGIVYG
560 570 580 590 600
QTICWIGAFF SPLLPAIATL KFIIIFYVKE WSLLYTCRPS PRPFRASNSN
610 620 630 640 650
FFFLLVLLIG LCLAIIPLTI SISRIPSSKA CGPFTNFNTT WEVIPKTVST
660 670 680 690 700
FPSSLQSFIH GVTSEAFAVP FFMIICLIMF YFIALAGAHK RVVIQLREQL
710 720
SLESRDKCYL IQKLTEAQRD MRN
Length:723
Mass (Da):83,502
Last modified:October 1, 2003 - v1
Checksum:i1390BF6E450EDE60
GO
Isoform 2 (identifier: Q7Z402-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-110: Missing.

Note: No experimental confirmation available.
Show »
Length:613
Mass (Da):71,121
Checksum:i9B52BE005338B9B5
GO

Sequence cautioni

The sequence BAB15032 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti18P → Q in AAP78780 (PubMed:12812529).Curated1
Sequence conflicti18P → Q in AAH36205 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03227859R → W1 PublicationCorresponds to variant dbSNP:rs17854512Ensembl.1
Natural variantiVAR_032279254G → E4 PublicationsCorresponds to variant dbSNP:rs4072393Ensembl.1
Natural variantiVAR_061852355T → S. Corresponds to variant dbSNP:rs55796412Ensembl.1
Natural variantiVAR_032280635T → I. Corresponds to variant dbSNP:rs11864159Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0542261 – 110Missing in isoform 2. 2 PublicationsAdd BLAST110

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY263165 mRNA Translation: AAP78780.1
AY236498 mRNA Translation: AAP69876.1
AC099518 Genomic DNA No translation available.
BC036205 mRNA Translation: AAH36205.1
BC047719 mRNA Translation: AAH47719.1
CR933669 mRNA Translation: CAI45966.1
AK024893 mRNA Translation: BAB15032.1 Different initiation.
CCDSiCCDS10573.1 [Q7Z402-1]
CCDS53992.1 [Q7Z402-2]
RefSeqiNP_001153836.1, NM_001160364.2 [Q7Z402-2]
NP_079123.3, NM_024847.4 [Q7Z402-1]
UniGeneiHs.187377
Hs.531661

Genome annotation databases

EnsembliENST00000304381; ENSP00000304710; ENSG00000170537 [Q7Z402-1]
ENST00000421369; ENSP00000397081; ENSG00000170537 [Q7Z402-2]
GeneIDi79905
KEGGihsa:79905
UCSCiuc002dfq.4 human [Q7Z402-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiTMC7_HUMAN
AccessioniPrimary (citable) accession number: Q7Z402
Secondary accession number(s): E7ERB6
, Q5H9Q8, Q7Z5M4, Q86WX0, Q9H766
Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 15, 2007
Last sequence update: October 1, 2003
Last modified: July 18, 2018
This is version 101 of the entry and version 1 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. Human chromosome 16
    Human chromosome 16: 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

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