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Protein

Transmembrane channel-like protein 7

Gene

TMC7

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

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

HGNCiHGNC:23000. TMC7.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 168168ExtracellularSequence analysisAdd
BLAST
Transmembranei169 – 18921HelicalSequence analysisAdd
BLAST
Topological domaini190 – 21930CytoplasmicSequence analysisAdd
BLAST
Transmembranei220 – 24021HelicalSequence analysisAdd
BLAST
Topological domaini241 – 26323ExtracellularSequence analysisAdd
BLAST
Transmembranei264 – 28421HelicalSequence analysisAdd
BLAST
Topological domaini285 – 36278CytoplasmicSequence analysisAdd
BLAST
Transmembranei363 – 38321HelicalSequence analysisAdd
BLAST
Topological domaini384 – 40421ExtracellularSequence analysisAdd
BLAST
Transmembranei405 – 42521HelicalSequence analysisAdd
BLAST
Topological domaini426 – 49469CytoplasmicSequence analysisAdd
BLAST
Transmembranei495 – 51521HelicalSequence analysisAdd
BLAST
Topological domaini516 – 55540ExtracellularSequence analysisAdd
BLAST
Transmembranei556 – 57621HelicalSequence analysisAdd
BLAST
Topological domaini577 – 60125CytoplasmicSequence analysisAdd
BLAST
Transmembranei602 – 62221HelicalSequence analysisAdd
BLAST
Topological domaini623 – 66543ExtracellularSequence analysisAdd
BLAST
Transmembranei666 – 68621HelicalSequence analysisAdd
BLAST
Topological domaini687 – 72337CytoplasmicSequence analysisAdd
BLAST

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA134988099.

Polymorphism and mutation databases

BioMutaiTMC7.
DMDMi74713450.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 723723Transmembrane channel-like protein 7PRO_0000287165Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi24 – 241N-linked (GlcNAc...)Sequence analysis
Glycosylationi84 – 841N-linked (GlcNAc...)Sequence analysis
Glycosylationi96 – 961N-linked (GlcNAc...)Sequence analysis
Glycosylationi259 – 2591N-linked (GlcNAc...)Sequence analysis
Glycosylationi638 – 6381N-linked (GlcNAc...)Sequence analysis

Keywords - PTMi

Glycoprotein

Proteomic databases

MaxQBiQ7Z402.
PaxDbiQ7Z402.
PRIDEiQ7Z402.

PTM databases

iPTMnetiQ7Z402.
PhosphoSiteiQ7Z402.

Expressioni

Gene expression databases

BgeeiQ7Z402.
CleanExiHS_TMC7.
ExpressionAtlasiQ7Z402. baseline and differential.
GenevisibleiQ7Z402. HS.

Organism-specific databases

HPAiHPA029465.

Interactioni

Protein-protein interaction databases

BioGridi122988. 4 interactions.
STRINGi9606.ENSP00000304710.

Structurei

3D structure databases

ProteinModelPortaliQ7Z402.
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.
PhylomeDBiQ7Z402.
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 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 BAB15032.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti18 – 181P → Q in AAP78780 (PubMed:12812529).Curated
Sequence conflicti18 – 181P → Q in AAH36205 (PubMed:15489334).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti59 – 591R → W.1 Publication
Corresponds to variant rs17854512 [ dbSNP | Ensembl ].
VAR_032278
Natural varianti254 – 2541G → E.4 Publications
Corresponds to variant rs28583298 [ dbSNP | Ensembl ].
VAR_032279
Natural varianti355 – 3551T → S.
Corresponds to variant rs55796412 [ dbSNP | Ensembl ].
VAR_061852
Natural varianti635 – 6351T → I.
Corresponds to variant rs11864159 [ dbSNP | Ensembl ].
VAR_032280

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 110110Missing in isoform 2. 2 PublicationsVSP_054226Add
BLAST

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

Cross-referencesi

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.

3D structure databases

ProteinModelPortaliQ7Z402.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi122988. 4 interactions.
STRINGi9606.ENSP00000304710.

PTM databases

iPTMnetiQ7Z402.
PhosphoSiteiQ7Z402.

Polymorphism and mutation databases

BioMutaiTMC7.
DMDMi74713450.

Proteomic databases

MaxQBiQ7Z402.
PaxDbiQ7Z402.
PRIDEiQ7Z402.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi79905.
GeneCardsiTMC7.
HGNCiHGNC:23000. TMC7.
HPAiHPA029465.
neXtProtiNX_Q7Z402.
PharmGKBiPA134988099.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IIGT. Eukaryota.
ENOG410Y7QP. LUCA.
GeneTreeiENSGT00760000119171.
HOVERGENiHBG101778.
InParanoidiQ7Z402.
PhylomeDBiQ7Z402.
TreeFamiTF313462.

Miscellaneous databases

ChiTaRSiTMC7. human.
GenomeRNAii79905.
PROiQ7Z402.

Gene expression databases

BgeeiQ7Z402.
CleanExiHS_TMC7.
ExpressionAtlasiQ7Z402. baseline and differential.
GenevisibleiQ7Z402. HS.

Family and domain databases

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

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), VARIANT GLU-254.
  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 1).
  3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), VARIANT GLU-254.
  4. "The sequence and analysis of duplication-rich human chromosome 16."
    Martin J., Han C., Gordon L.A., Terry A., Prabhakar S., She X., Xie G., Hellsten U., Chan Y.M., Altherr M., Couronne O., Aerts A., Bajorek E., Black S., Blumer H., Branscomb E., Brown N.C., Bruno W.J.
    , Buckingham J.M., Callen D.F., Campbell C.S., Campbell M.L., Campbell E.W., Caoile C., Challacombe J.F., Chasteen L.A., Chertkov O., Chi H.C., Christensen M., Clark L.M., Cohn J.D., Denys M., Detter J.C., Dickson M., Dimitrijevic-Bussod M., Escobar J., Fawcett J.J., Flowers D., Fotopulos D., Glavina T., Gomez M., Gonzales E., Goodstein D., Goodwin L.A., Grady D.L., Grigoriev I., Groza M., Hammon N., Hawkins T., Haydu L., Hildebrand C.E., Huang W., Israni S., Jett J., Jewett P.B., Kadner K., Kimball H., Kobayashi A., Krawczyk M.-C., Leyba T., Longmire J.L., Lopez F., Lou Y., Lowry S., Ludeman T., Manohar C.F., Mark G.A., McMurray K.L., Meincke L.J., Morgan J., Moyzis R.K., Mundt M.O., Munk A.C., Nandkeshwar R.D., Pitluck S., Pollard M., Predki P., Parson-Quintana B., Ramirez L., Rash S., Retterer J., Ricke D.O., Robinson D.L., Rodriguez A., Salamov A., Saunders E.H., Scott D., Shough T., Stallings R.L., Stalvey M., Sutherland R.D., Tapia R., Tesmer J.G., Thayer N., Thompson L.S., Tice H., Torney D.C., Tran-Gyamfi M., Tsai M., Ulanovsky L.E., Ustaszewska A., Vo N., White P.S., Williams A.L., Wills P.L., Wu J.-R., Wu K., Yang J., DeJong P., Bruce D., Doggett N.A., Deaven L., Schmutz J., Grimwood J., Richardson P., Rokhsar D.S., Eichler E.E., Gilna P., Lucas S.M., Myers R.M., Rubin E.M., Pennacchio L.A.
    Nature 432:988-994(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA] (ISOFORM 2).
  5. "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 TRP-59 AND GLU-254.
    Tissue: Brain.
  6. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 222-723 (ISOFORMS 1 AND 2), VARIANT GLU-254.
    Tissue: Colon.

Entry informationi

Entry nameiTMC7_HUMAN
AccessioniPrimary (citable) accession number: Q7Z402
Secondary accession number(s): E7ERB6
, Q5H9Q8, Q7Z5M4, Q86WX0, Q9H766
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 15, 2007
Last sequence update: October 1, 2003
Last modified: June 8, 2016
This is version 89 of the entry and version 1 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 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

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.