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Q8N394 (TMTC2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified February 19, 2014. Version 96. 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·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Transmembrane and TPR repeat-containing protein 2
Gene names
Name:TMTC2
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length836 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

Subcellular location

Membrane; Multi-pass membrane protein Potential.

Sequence similarities

Belongs to the TMTC family.

Contains 10 TPR repeats.

Sequence caution

The sequence BAC11102.1 differs from that shown. Reason: Erroneous initiation.

Ontologies

Keywords
   Cellular componentMembrane
   Coding sequence diversityPolymorphism
   DomainRepeat
TPR repeat
Transmembrane
Transmembrane helix
   PTMGlycoprotein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Cellular_componentendoplasmic reticulum

Inferred from direct assay. Source: LIFEdb

integral component of membrane

Inferred from electronic annotation. Source: UniProtKB-KW

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 836836Transmembrane and TPR repeat-containing protein 2
PRO_0000280290

Regions

Transmembrane85 – 10521Helical; Potential
Transmembrane108 – 12821Helical; Potential
Transmembrane133 – 15321Helical; Potential
Transmembrane163 – 18321Helical; Potential
Transmembrane184 – 20421Helical; Potential
Transmembrane222 – 24120Helical; Potential
Transmembrane313 – 33321Helical; Potential
Transmembrane400 – 42021Helical; Potential
Transmembrane423 – 44321Helical; Potential
Transmembrane450 – 47021Helical; Potential
Repeat462 – 49231TPR 1
Repeat493 – 52634TPR 2
Repeat527 – 56034TPR 3
Repeat562 – 59433TPR 4
Repeat606 – 63934TPR 5
Repeat643 – 67634TPR 6
Repeat677 – 71034TPR 7
Repeat712 – 74433TPR 8
Repeat746 – 77833TPR 9
Repeat779 – 81234TPR 10

Amino acid modifications

Glycosylation2211N-linked (GlcNAc...) Potential

Natural variations

Natural variant3151A → T.
Corresponds to variant rs1201791 [ dbSNP | Ensembl ].
VAR_031113
Natural variant4431Y → S.
Corresponds to variant rs17010106 [ dbSNP | Ensembl ].
VAR_031114
Natural variant7411D → Y.
Corresponds to variant rs428398 [ dbSNP | Ensembl ].
VAR_053852

Sequences

Sequence LengthMass (Da)Tools
Q8N394 [UniParc].

Last modified October 1, 2002. Version 1.
Checksum: C61517F1B39B3A28

FASTA83694,130
        10         20         30         40         50         60 
MIAELVSSAL GLALYLNTLS ADFCYDDSRA IKTNQDLLPE TPWTHIFYND FWGTLLTHSG 

        70         80         90        100        110        120 
SHKSYRPLCT LSFRLNHAIG GLNPWSYHLV NVLLHAAVTG LFTSFSKILL GDGYWTFMAG 

       130        140        150        160        170        180 
LMFASHPIHT EAVAGIVGRA DVGASLFFLL SLLCYIKHCS TRGYSARTWG WFLGSGLCAG 

       190        200        210        220        230        240 
CSMLWKEQGV TVLAVSAVYD VFVFHRLKIK QILPTIYKRK NLSLFLSISL LIFWGSSLLG 

       250        260        270        280        290        300 
ARLYWMGNKP PSFSNSDNPA ADSDSLLTRT LTFFYLPTKN LWLLLCPDTL SFDWSMDAVP 

       310        320        330        340        350        360 
LLKTVCDWRN LHTVAFYTGL LLLAYYGLKS PSVDRECNGK TVTNGKQNAN GHSCLSDVEY 

       370        380        390        400        410        420 
QNSETKSSFA SKVENGIKND VSQRTQLPST ENIVVLSLSL LIIPFVPATN LFFYVGFVIA 

       430        440        450        460        470        480 
ERVLYIPSMG FCLLITVGAR ALYVKVQKRF LKSLIFYATA TLIVFYGLKT AIRNGDWQNE 

       490        500        510        520        530        540 
EMLYRSGIKV NPAKAWGNLG NVLKSQSKIS EAESAYRNAL YYRSNMADML YNLGLLLQEN 

       550        560        570        580        590        600 
SRFAEALHYY KLAIGSRPTL ASAYLNTGII LMNQGRTEEA RRTFLKCSEI PDENLKDPHA 

       610        620        630        640        650        660 
HKSSVTSCLY NLGKLYHEQG HYEEALSVYK EAIQKMPRQF APQSLYNMMG EAYMRLSKLP 

       670        680        690        700        710        720 
EAEHWYMESL RSKTDHIPAH LTYGKLLALT GRKSEAEKLF LKAIELDPTK GNCYMHYGQF 

       730        740        750        760        770        780 
LLEEARLIEA AEMAKKAAEL DSTEFDVVFN AAHMLRQASL NEAAEKYYDL AARLRPNYPA 

       790        800        810        820        830 
ALMNLGAILH LNGRLQKAEA NYLRALQLKP DDVITQSNLR KLWNIMEKQG LKTSKT 

« Hide

References

[1]"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. expand/collapse author list , 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].
Tissue: Brain and Embryo.
[2]"The full-ORF clone resource of the German cDNA consortium."
Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I.
BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
Tissue: Melanoma.
[3]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases
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].
Tissue: Brain.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AK074634 mRNA. Translation: BAC11102.1. Different initiation.
AK315285 mRNA. Translation: BAG37694.1.
AL834509 mRNA. Translation: CAD39165.1.
CH471054 Genomic DNA. Translation: EAW97384.1.
BC093852 mRNA. Translation: AAH93852.1.
BC093854 mRNA. Translation: AAH93854.1.
RefSeqNP_689801.1. NM_152588.1.
UniGeneHs.577775.

3D structure databases

ProteinModelPortalQ8N394.
SMRQ8N394. Positions 487-830.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid127753. 2 interactions.
IntActQ8N394. 2 interactions.
MINTMINT-2810228.
STRING9606.ENSP00000322300.

PTM databases

PhosphoSiteQ8N394.

Polymorphism databases

DMDM74759843.

Proteomic databases

PaxDbQ8N394.
PRIDEQ8N394.

Protocols and materials databases

DNASU160335.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000321196; ENSP00000322300; ENSG00000179104.
GeneID160335.
KEGGhsa:160335.
UCSCuc001szs.1. human.

Organism-specific databases

CTD160335.
GeneCardsGC12P083080.
HGNCHGNC:25440. TMTC2.
HPAHPA026954.
HPA026955.
neXtProtNX_Q8N394.
PharmGKBPA142670719.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG0457.
HOGENOMHOG000010230.
HOVERGENHBG054555.
InParanoidQ8N394.
OMACLSDVEY.
OrthoDBEOG7BKCT0.
PhylomeDBQ8N394.
TreeFamTF328339.

Gene expression databases

ArrayExpressQ8N394.
BgeeQ8N394.
CleanExHS_TMTC2.
GenevestigatorQ8N394.

Family and domain databases

Gene3D1.25.40.10. 3 hits.
InterProIPR013618. DUF1736.
IPR013026. TPR-contain_dom.
IPR011990. TPR-like_helical.
IPR013105. TPR_2.
IPR019734. TPR_repeat.
[Graphical view]
PfamPF08409. DUF1736. 1 hit.
PF07719. TPR_2. 1 hit.
[Graphical view]
SMARTSM00028. TPR. 8 hits.
[Graphical view]
PROSITEPS50005. TPR. 9 hits.
PS50293. TPR_REGION. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSTMTC2. human.
GeneWikiTMTC2.
GenomeRNAi160335.
NextBio87945.
PROQ8N394.

Entry information

Entry nameTMTC2_HUMAN
AccessionPrimary (citable) accession number: Q8N394
Secondary accession number(s): B2RCU7, Q8N2K8
Entry history
Integrated into UniProtKB/Swiss-Prot: March 20, 2007
Last sequence update: October 1, 2002
Last modified: February 19, 2014
This is version 96 of the entry and version 1 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

SIMILARITY comments

Index of protein domains and families

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 12

Human chromosome 12: entries, gene names and cross-references to MIM