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Protein

Transmembrane channel-like protein 4

Gene

TMC4

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

Protein family/group databases

TCDBi1.A.17.4.14. the calcium-dependent chloride channel (ca-clc) family.

Names & Taxonomyi

Protein namesi
Recommended name:
Transmembrane channel-like protein 4
Gene namesi
Name:TMC4
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 19

Organism-specific databases

HGNCiHGNC:22998. TMC4.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 168168ExtracellularSequence analysisAdd
BLAST
Transmembranei169 – 18921HelicalSequence analysisAdd
BLAST
Topological domaini190 – 24960CytoplasmicSequence analysisAdd
BLAST
Transmembranei250 – 27021HelicalSequence analysisAdd
BLAST
Topological domaini271 – 34878ExtracellularSequence analysisAdd
BLAST
Transmembranei349 – 36921HelicalSequence analysisAdd
BLAST
Topological domaini370 – 39425CytoplasmicSequence analysisAdd
BLAST
Transmembranei395 – 41521HelicalSequence analysisAdd
BLAST
Topological domaini416 – 42510ExtracellularSequence analysis
Transmembranei426 – 44621HelicalSequence analysisAdd
BLAST
Topological domaini447 – 48337CytoplasmicSequence analysisAdd
BLAST
Transmembranei484 – 50421HelicalSequence analysisAdd
BLAST
Topological domaini505 – 54238ExtracellularSequence analysisAdd
BLAST
Transmembranei543 – 56523HelicalSequence analysisAdd
BLAST
Topological domaini566 – 59227CytoplasmicSequence analysisAdd
BLAST
Transmembranei593 – 61321HelicalSequence analysisAdd
BLAST
Topological domaini614 – 65441ExtracellularSequence analysisAdd
BLAST
Transmembranei655 – 67723HelicalSequence analysisAdd
BLAST
Topological domaini678 – 71235CytoplasmicSequence analysisAdd
BLAST

GO - Cellular componenti

  • extracellular exosome Source: UniProtKB
  • integral component of membrane Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA134874063.

Polymorphism and mutation databases

DMDMi296452937.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 712712Transmembrane channel-like protein 4PRO_0000289468Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi107 – 1071N-linked (GlcNAc...)Sequence analysis

Keywords - PTMi

Glycoprotein

Proteomic databases

MaxQBiQ7Z404.
PaxDbiQ7Z404.
PRIDEiQ7Z404.

PTM databases

iPTMnetiQ7Z404.
PhosphoSiteiQ7Z404.

Expressioni

Gene expression databases

BgeeiQ7Z404.
CleanExiHS_TMC4.

Organism-specific databases

HPAiHPA048635.

Interactioni

Protein-protein interaction databases

IntActiQ7Z404. 1 interaction.

Structurei

3D structure databases

ProteinModelPortaliQ7Z404.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi63 – 675Poly-Glu

Sequence similaritiesi

Belongs to the TMC family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IIGT. Eukaryota.
ENOG410Y7QP. LUCA.
HOGENOMiHOG000154634.
HOVERGENiHBG108586.
InParanoidiQ7Z404.
OMAiLPQTAQN.
PhylomeDBiQ7Z404.
TreeFamiTF313462.

Family and domain databases

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

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q7Z404-2) [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
MEENPTLESE AWGSSRGWLA PREARGAPCS SPGPSLSSVL NELPSAATLR
60 70 80 90 100
YRDPGVLPWG ALEEEEEDGG RSRKAFTEVT QTELQDPHPS RELPWPMQAR
110 120 130 140 150
RAHRQRNASR DQVVYGSGTK TDRWARLLRR SKEKTKEGLR SLQPWAWTLK
160 170 180 190 200
RIGGQFGAGT ESYFSLLRFL LLLNVLASVL MACMTLLPTW LGGAPPGPPG
210 220 230 240 250
PDISSPCGSY NPHSQGLVTF ATQLFNLLSG EGYLEWSPLF YGFYPPRPRL
260 270 280 290 300
AVTYLCWAFA VGLICLLLIL HRSVSGLKQT LLAESEALTS YSHRVFSAWD
310 320 330 340 350
FGLCGDVHVR LRQRIILYEL KVELEETVVR RQAAVRTLGQ QARVWLVRVL
360 370 380 390 400
LNLLVVALLG AAFYGVYWAT GCTVELQEMP LVQELPLLKL GVNYLPSIFI
410 420 430 440 450
AGVNFVLPPV FKLIAPLEGY TRSRQIVFIL LRTVFLRLAS LVVLLFSLWN
460 470 480 490 500
QITCGGDSEA EDCKTCGYNY KQLPCWETVL GQEMYKLLLF DLLTVLAVAL
510 520 530 540 550
LIQFPRKLLC GLCPGALGRL AGTQEFQVPD EVLGLIYAQT VVWVGSFFCP
560 570 580 590 600
LLPLLNTVKF LLLFYLKKLT LFSTCSPAAR TFRASAANFF FPLVLLLGLA
610 620 630 640 650
ISSVPLLYSI FLIPPSKLCG PFRGQSSIWA QIPESISSLP ETTQNFLFFL
660 670 680 690 700
GTQAFAVPLL LISSILMAYT VALANSYGRL ISELKRQRQT EAQNKVFLAR
710
RAVALTSTKP AL
Note: No experimental confirmation available.
Length:712
Mass (Da):79,208
Last modified:May 18, 2010 - v3
Checksum:i9816A5014A95C9F3
GO
Isoform 2 (identifier: Q7Z404-1) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     27-32: Missing.

Show »
Length:706
Mass (Da):78,665
Checksum:i20835BFE1D82CDB9
GO
Isoform 3 (identifier: Q7Z404-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-418: Missing.
     419-431: GYTRSRQIVFILL → MKGGGGQRDVGAD

Show »
Length:294
Mass (Da):32,337
Checksum:i4B1D0D83BF378FD3
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti321 – 3211K → Q in AAP78781 (PubMed:12812529).Curated
Sequence conflicti397 – 3971S → P in AAP69870 (PubMed:12906855).Curated
Sequence conflicti569 – 5691L → V in AAP78781 (PubMed:12812529).Curated
Sequence conflicti642 – 6421T → A in AAP69870 (PubMed:12906855).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti17 – 171G → E.1 Publication
Corresponds to variant rs641738 [ dbSNP | Ensembl ].
VAR_032621
Natural varianti689 – 6891Q → E.
Corresponds to variant rs36657 [ dbSNP | Ensembl ].
VAR_032622

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 418418Missing in isoform 3. 1 PublicationVSP_026011Add
BLAST
Alternative sequencei27 – 326Missing in isoform 2. 2 PublicationsVSP_026012
Alternative sequencei419 – 43113GYTRS…VFILL → MKGGGGQRDVGAD in isoform 3. 1 PublicationVSP_026013Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY263166 mRNA. Translation: AAP78781.1.
AY236492 mRNA. Translation: AAP69870.1.
AC012314 Genomic DNA. No translation available.
BC025323 mRNA. Translation: AAH25323.1.
BC032477 mRNA. Translation: AAH32477.1.
CCDSiCCDS12882.1. [Q7Z404-1]
CCDS46174.1. [Q7Z404-2]
RefSeqiNP_001138775.2. NM_001145303.2.
NP_653287.2. NM_144686.3.
UniGeneiHs.355126.

Genome annotation databases

EnsembliENST00000301187; ENSP00000301187; ENSG00000167608.
ENST00000376591; ENSP00000365776; ENSG00000167608.
ENST00000416963; ENSP00000405023; ENSG00000167608.
ENST00000612712; ENSP00000482528; ENSG00000274905. [Q7Z404-2]
ENST00000613354; ENSP00000481281; ENSG00000277996. [Q7Z404-2]
ENST00000616323; ENSP00000484205; ENSG00000274873. [Q7Z404-2]
ENST00000618950; ENSP00000478046; ENSG00000273722. [Q7Z404-2]
ENST00000619470; ENSP00000477941; ENSG00000276260. [Q7Z404-2]
ENST00000620520; ENSP00000477927; ENSG00000278363. [Q7Z404-2]
ENST00000621671; ENSP00000481629; ENSG00000273722. [Q7Z404-1]
ENST00000622368; ENSP00000482261; ENSG00000277667. [Q7Z404-2]
GeneIDi147798.
KEGGihsa:147798.
UCSCiuc032iss.2. human. [Q7Z404-2]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY263166 mRNA. Translation: AAP78781.1.
AY236492 mRNA. Translation: AAP69870.1.
AC012314 Genomic DNA. No translation available.
BC025323 mRNA. Translation: AAH25323.1.
BC032477 mRNA. Translation: AAH32477.1.
CCDSiCCDS12882.1. [Q7Z404-1]
CCDS46174.1. [Q7Z404-2]
RefSeqiNP_001138775.2. NM_001145303.2.
NP_653287.2. NM_144686.3.
UniGeneiHs.355126.

3D structure databases

ProteinModelPortaliQ7Z404.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

IntActiQ7Z404. 1 interaction.

Protein family/group databases

TCDBi1.A.17.4.14. the calcium-dependent chloride channel (ca-clc) family.

PTM databases

iPTMnetiQ7Z404.
PhosphoSiteiQ7Z404.

Polymorphism and mutation databases

DMDMi296452937.

Proteomic databases

MaxQBiQ7Z404.
PaxDbiQ7Z404.
PRIDEiQ7Z404.

Protocols and materials databases

DNASUi147798.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000301187; ENSP00000301187; ENSG00000167608.
ENST00000376591; ENSP00000365776; ENSG00000167608.
ENST00000416963; ENSP00000405023; ENSG00000167608.
ENST00000612712; ENSP00000482528; ENSG00000274905. [Q7Z404-2]
ENST00000613354; ENSP00000481281; ENSG00000277996. [Q7Z404-2]
ENST00000616323; ENSP00000484205; ENSG00000274873. [Q7Z404-2]
ENST00000618950; ENSP00000478046; ENSG00000273722. [Q7Z404-2]
ENST00000619470; ENSP00000477941; ENSG00000276260. [Q7Z404-2]
ENST00000620520; ENSP00000477927; ENSG00000278363. [Q7Z404-2]
ENST00000621671; ENSP00000481629; ENSG00000273722. [Q7Z404-1]
ENST00000622368; ENSP00000482261; ENSG00000277667. [Q7Z404-2]
GeneIDi147798.
KEGGihsa:147798.
UCSCiuc032iss.2. human. [Q7Z404-2]

Organism-specific databases

CTDi147798.
GeneCardsiTMC4.
H-InvDBHIX0202840.
HGNCiHGNC:22998. TMC4.
HPAiHPA048635.
neXtProtiNX_Q7Z404.
PharmGKBiPA134874063.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IIGT. Eukaryota.
ENOG410Y7QP. LUCA.
HOGENOMiHOG000154634.
HOVERGENiHBG108586.
InParanoidiQ7Z404.
OMAiLPQTAQN.
PhylomeDBiQ7Z404.
TreeFamiTF313462.

Miscellaneous databases

ChiTaRSiTMC4. human.
GenomeRNAii147798.
NextBioi85729.
PROiQ7Z404.

Gene expression databases

BgeeiQ7Z404.
CleanExiHS_TMC4.

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 2), VARIANT GLU-17.
  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. "The DNA sequence and biology of human chromosome 19."
    Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J., Lamerdin J.E., Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M., Aerts A., Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E., Caenepeel S., Carrano A.V.
    , Caoile C., Chan Y.M., Christensen M., Cleland C.A., Copeland A., Dalin E., Dehal P., Denys M., Detter J.C., Escobar J., Flowers D., Fotopulos D., Garcia C., Georgescu A.M., Glavina T., Gomez M., Gonzales E., Groza M., Hammon N., Hawkins T., Haydu L., Ho I., Huang W., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Larionov V., Leem S.-H., Lopez F., Lou Y., Lowry S., Malfatti S., Martinez D., McCready P.M., Medina C., Morgan J., Nelson K., Nolan M., Ovcharenko I., Pitluck S., Pollard M., Popkie A.P., Predki P., Quan G., Ramirez L., Rash S., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., She X., Smith D., Slezak T., Solovyev V., Thayer N., Tice H., Tsai M., Ustaszewska A., Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J., Dubchak I., Furey T.S., DeJong P., Dickson M., Gordon D., Eichler E.E., Pennacchio L.A., Richardson P., Stubbs L., Rokhsar D.S., Myers R.M., Rubin E.M., Lucas S.M.
    Nature 428:529-535(2004) [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] (ISOFORMS 2 AND 3).
    Tissue: Blood and Colon.

Entry informationi

Entry nameiTMC4_HUMAN
AccessioniPrimary (citable) accession number: Q7Z404
Secondary accession number(s): Q7Z5M3, Q8N5E4, Q8TBS7
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 29, 2007
Last sequence update: May 18, 2010
Last modified: May 11, 2016
This is version 89 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 19
    Human chromosome 19: 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.