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Q7Z404 (TMC4_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified May 1, 2013. Version 64. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (4) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Transmembrane channel-like protein 4
Gene names
Name:TMC4
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length712 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

Function

Probable ion channel By similarity.

Subcellular location

Membrane; Multi-pass membrane protein Potential.

Sequence similarities

Belongs to the TMC family.

Ontologies

Keywords
   Biological processIon transport
Transport
   Cellular componentMembrane
   Coding sequence diversityAlternative splicing
Polymorphism
   DomainTransmembrane
Transmembrane helix
   Molecular functionIon channel
   PTMGlycoprotein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_procession transport

Inferred from electronic annotation. Source: UniProtKB-KW

   Cellular_componentintegral to membrane

Inferred from electronic annotation. Source: UniProtKB-KW

Complete GO annotation...

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q7Z404-2)

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.
Note: No experimental confirmation available.
Isoform 2 (identifier: Q7Z404-1)

The sequence of this isoform differs from the canonical sequence as follows:
     27-32: Missing.
Isoform 3 (identifier: Q7Z404-3)

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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 712712Transmembrane channel-like protein 4
PRO_0000289468

Regions

Topological domain1 – 168168Extracellular Potential
Transmembrane169 – 18921Helical; Potential
Topological domain190 – 24960Cytoplasmic Potential
Transmembrane250 – 27021Helical; Potential
Topological domain271 – 34878Extracellular Potential
Transmembrane349 – 36921Helical; Potential
Topological domain370 – 39425Cytoplasmic Potential
Transmembrane395 – 41521Helical; Potential
Topological domain416 – 42510Extracellular Potential
Transmembrane426 – 44621Helical; Potential
Topological domain447 – 48337Cytoplasmic Potential
Transmembrane484 – 50421Helical; Potential
Topological domain505 – 54238Extracellular Potential
Transmembrane543 – 56523Helical; Potential
Topological domain566 – 59227Cytoplasmic Potential
Transmembrane593 – 61321Helical; Potential
Topological domain614 – 65441Extracellular Potential
Transmembrane655 – 67723Helical; Potential
Topological domain678 – 71235Cytoplasmic Potential
Compositional bias63 – 675Poly-Glu

Amino acid modifications

Glycosylation1071N-linked (GlcNAc...) Potential

Natural variations

Alternative sequence1 – 418418Missing in isoform 3.
VSP_026011
Alternative sequence27 – 326Missing in isoform 2.
VSP_026012
Alternative sequence419 – 43113GYTRS…VFILL → MKGGGGQRDVGAD in isoform 3.
VSP_026013
Natural variant171G → E. Ref.1
Corresponds to variant rs641738 [ dbSNP | Ensembl ].
VAR_032621
Natural variant6891Q → E.
Corresponds to variant rs36657 [ dbSNP | Ensembl ].
VAR_032622

Experimental info

Sequence conflict3211K → Q in AAP78781. Ref.1
Sequence conflict3971S → P in AAP69870. Ref.2
Sequence conflict5691L → V in AAP78781. Ref.1
Sequence conflict6421T → A in AAP69870. Ref.2

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified May 18, 2010. Version 3.
Checksum: 9816A5014A95C9F3

FASTA71279,208
        10         20         30         40         50         60 
MEENPTLESE AWGSSRGWLA PREARGAPCS SPGPSLSSVL NELPSAATLR YRDPGVLPWG 

        70         80         90        100        110        120 
ALEEEEEDGG RSRKAFTEVT QTELQDPHPS RELPWPMQAR RAHRQRNASR DQVVYGSGTK 

       130        140        150        160        170        180 
TDRWARLLRR SKEKTKEGLR SLQPWAWTLK RIGGQFGAGT ESYFSLLRFL LLLNVLASVL 

       190        200        210        220        230        240 
MACMTLLPTW LGGAPPGPPG PDISSPCGSY NPHSQGLVTF ATQLFNLLSG EGYLEWSPLF 

       250        260        270        280        290        300 
YGFYPPRPRL AVTYLCWAFA VGLICLLLIL HRSVSGLKQT LLAESEALTS YSHRVFSAWD 

       310        320        330        340        350        360 
FGLCGDVHVR LRQRIILYEL KVELEETVVR RQAAVRTLGQ QARVWLVRVL LNLLVVALLG 

       370        380        390        400        410        420 
AAFYGVYWAT GCTVELQEMP LVQELPLLKL GVNYLPSIFI AGVNFVLPPV FKLIAPLEGY 

       430        440        450        460        470        480 
TRSRQIVFIL LRTVFLRLAS LVVLLFSLWN QITCGGDSEA EDCKTCGYNY KQLPCWETVL 

       490        500        510        520        530        540 
GQEMYKLLLF DLLTVLAVAL LIQFPRKLLC GLCPGALGRL AGTQEFQVPD EVLGLIYAQT 

       550        560        570        580        590        600 
VVWVGSFFCP LLPLLNTVKF LLLFYLKKLT LFSTCSPAAR TFRASAANFF FPLVLLLGLA 

       610        620        630        640        650        660 
ISSVPLLYSI FLIPPSKLCG PFRGQSSIWA QIPESISSLP ETTQNFLFFL GTQAFAVPLL 

       670        680        690        700        710 
LISSILMAYT VALANSYGRL ISELKRQRQT EAQNKVFLAR RAVALTSTKP AL

« Hide

Isoform 2 [UniParc].

Checksum: 20835BFE1D82CDB9
Show »

FASTA70678,665
Isoform 3 [UniParc].

Checksum: 4B1D0D83BF378FD3
Show »

FASTA29432,337

References

« Hide 'large scale' references
[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. expand/collapse author list , 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.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ		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.
IPIIPI00465243.
IPI00657918.
IPI00847304.
RefSeqNP_001138775.1. NM_001145303.1.
NP_653287.1. NM_144686.2.
UniGeneHs.355126.

3D structure databases

ProteinModelPortalQ7Z404.
ModBaseSearch...

Protein-protein interaction databases

STRING9606.ENSP00000365776.

PTM databases

PhosphoSiteQ7Z404.

Polymorphism databases

DMDM296452937.

Proteomic databases

PaxDbQ7Z404.
PRIDEQ7Z404.

Protocols and materials databases

DNASU147798.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000301187; ENSP00000301187; ENSG00000167608.
ENST00000376591; ENSP00000365776; ENSG00000167608.
ENST00000416963; ENSP00000405023; ENSG00000167608.
ENST00000570936; ENSP00000460334; ENSG00000268653.
ENST00000573249; ENSP00000459794; ENSG00000268653.
ENST00000574359; ENSP00000459434; ENSG00000268653.
ENST00000594449; ENSP00000471956; ENSG00000269770.
ENST00000595152; ENSP00000470629; ENSG00000268772.
ENST00000595153; ENSP00000469519; ENSG00000267859.
ENST00000595597; ENSP00000472164; ENSG00000267859.
ENST00000595643; ENSP00000470897; ENSG00000269331.
ENST00000596629; ENSP00000470610; ENSG00000268441.
ENST00000596685; ENSP00000471020; ENSG00000269331.
ENST00000596725; ENSP00000471153; ENSG00000268772.
ENST00000597125; ENSP00000471258; ENSG00000268772.
ENST00000597771; ENSP00000471437; ENSG00000269770.
ENST00000599230; ENSP00000470720; ENSG00000268441.
ENST00000599374; ENSP00000471392; ENSG00000267859.
ENST00000601326; ENSP00000471654; ENSG00000269770.
ENST00000601703; ENSP00000470202; ENSG00000269331.
ENST00000601970; ENSP00000471809; ENSG00000268441.
GeneID147798.
KEGGhsa:147798.
UCSCuc002qdn.3. human.
uc002qdo.3. human.
uc010erf.3. human.

Organism-specific databases

CTD147798.
GeneCardsGC19M054663.
H-InvDBHIX0202840.
HGNCHGNC:22998. TMC4.
HPAHPA048635.
neXtProtNX_Q7Z404.
PharmGKBPA134874063.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG70493.
HOGENOMHOG000154634.
HOVERGENHBG108586.
OMAPWAWTLK.
OrthoDBEOG44F68P.

Gene expression databases

ArrayExpressQ7Z404.
BgeeQ7Z404.
CleanExHS_TMC4.
GenevestigatorQ7Z404.

Family and domain databases

InterProIPR012496. TMC.
[Graphical view]
PfamPF07810. TMC. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSTMC4. human.
GenomeRNAi147798.
NextBio85729.

Entry information

Entry nameTMC4_HUMAN
AccessionPrimary (citable) accession number: Q7Z404
Secondary accession number(s): Q7Z5M3, Q8N5E4, Q8TBS7
Entry history
Integrated into UniProtKB/Swiss-Prot: May 29, 2007
Last sequence update: May 18, 2010
Last modified: May 1, 2013
This is version 64 of the entry and version 3 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

Human chromosome 19

Human chromosome 19: entries, gene names and cross-references to MIM

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

SIMILARITY comments

Index of protein domains and families

to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·Documents