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Q8IUR5 (TMTC1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 105. 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

Names and origin

Protein namesRecommended name:
Transmembrane and TPR repeat-containing protein 1
Gene names
Name:TMTC1
ORF Names:ARG99
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length882 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Subunit structure

May interact with FAM168B.

Subcellular location

Membrane; Multi-pass membrane protein Potential.

Sequence similarities

Belongs to the TMTC family.

Contains 10 TPR repeats.

Sequence caution

The sequence AAK32121.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

Ontologies

Keywords
   Cellular componentMembrane
   Coding sequence diversityAlternative splicing
Polymorphism
   DomainRepeat
TPR repeat
Transmembrane
Transmembrane helix
   PTMGlycoprotein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Cellular_componentintegral component of membrane

Inferred from electronic annotation. Source: UniProtKB-KW

mitochondrion

Inferred from electronic annotation. Source: Ensembl

Complete GO annotation...

Alternative products

This entry describes 5 isoforms produced by alternative splicing. [Align] [Select]
Isoform 5 (identifier: Q8IUR5-5)

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.
Isoform 1 (identifier: Q8IUR5-1)

The sequence of this isoform differs from the canonical sequence as follows:
     1-108: Missing.
Isoform 2 (identifier: Q8IUR5-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-237: Missing.
     238-312: SNKQDKSSNG...VSPRAVWSMM → MTKQDSASKK...PASFSPYILT
Note: No experimental confirmation available.
Isoform 3 (identifier: Q8IUR5-3)

The sequence of this isoform differs from the canonical sequence as follows:
     1-108: Missing.
     312-312: M → MRYLRASSNRNFLLTMRPFLKRAILVLSYVLVILYFRLWIMGGSMPLFSEQDNPASFSPYILT
     596-620: ERFKEAEEIYQTGIKNCPDSSDLHN → VIVSHSSFFQCYCYMYKLMLHRFLY
     621-882: Missing.
Note: No experimental confirmation available.
Isoform 4 (identifier: Q8IUR5-4)

The sequence of this isoform differs from the canonical sequence as follows:
     1-652: Missing.
     672-675: WYKR → C
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 882882Transmembrane and TPR repeat-containing protein 1
PRO_0000280288

Regions

Transmembrane21 – 4121Helical; Potential
Transmembrane111 – 13121Helical; Potential
Transmembrane161 – 18121Helical; Potential
Transmembrane198 – 21821Helical; Potential
Transmembrane314 – 33421Helical; Potential
Transmembrane355 – 37521Helical; Potential
Transmembrane382 – 40221Helical; Potential
Transmembrane404 – 42421Helical; Potential
Transmembrane439 – 45921Helical; Potential
Repeat483 – 51634TPR 1
Repeat518 – 54730TPR 2
Repeat548 – 58134TPR 3
Repeat583 – 61533TPR 4
Repeat616 – 64934TPR 5
Repeat650 – 68334TPR 6
Repeat684 – 71633TPR 7
Repeat751 – 78434TPR 8
Repeat789 – 82234TPR 9
Repeat823 – 85634TPR 10

Amino acid modifications

Glycosylation1841N-linked (GlcNAc...) Potential

Natural variations

Alternative sequence1 – 652652Missing in isoform 4.
VSP_023611
Alternative sequence1 – 237237Missing in isoform 2.
VSP_023612
Alternative sequence1 – 108108Missing in isoform 1 and isoform 3.
VSP_041823
Alternative sequence238 – 31275SNKQD…VWSMM → MTKQDSASKKKKKRYLRASS NRNFLLTMRPFLKRAILVLS YVLVILYFRLWIMGGSMPLF SEQDNPASFSPYILT in isoform 2.
VSP_023613
Alternative sequence3121M → MRYLRASSNRNFLLTMRPFL KRAILVLSYVLVILYFRLWI MGGSMPLFSEQDNPASFSPY ILT in isoform 3.
VSP_023614
Alternative sequence596 – 62025ERFKE…SDLHN → VIVSHSSFFQCYCYMYKLML HRFLY in isoform 3.
VSP_023615
Alternative sequence621 – 882262Missing in isoform 3.
VSP_023616
Alternative sequence672 – 6754WYKR → C in isoform 4.
VSP_023617
Natural variant8141V → L. Ref.4
Corresponds to variant rs17854190 [ dbSNP | Ensembl ].
VAR_031112

Sequences

Sequence LengthMass (Da)Tools
Isoform 5 [UniParc].

Last modified September 21, 2011. Version 3.
Checksum: 5E4E0B1453C8AAC0

FASTA88298,847
        10         20         30         40         50         60 
MVVTTSARGG GGDRTPSRRR GCGLAPAGAA ALLAGASCLC YGRSLQGEFV HDDVWAIVNN 

        70         80         90        100        110        120 
PDVRPGAPLR WGIFTNDFWG KGMAENTSHK SYRPLCVLTF KLNIFLTGMN PFYFHAVNII 

       130        140        150        160        170        180 
LHCLVTLVLM YTCDKTVFKN RGLAFVTALL FAVHPIHTEA VAGIVGRADV LACLLFLLAF 

       190        200        210        220        230        240 
LSYNRSLDQG CVGGSFPSTV SPFFLLLSLF LGTCAMLVKE TGITVFGVCL VYDLFSLSNK 

       250        260        270        280        290        300 
QDKSSNGALC PRSPQQPGSP QPSSLPGHPH RENGKQQRFP HKGAWGGCHS PLPPEPKSSG 

       310        320        330        340        350        360 
FPVSPRAVWS MMRFLTYSYL LAFNVWLLLA PVTLCYDWQV GSIPLVETIW DMRNLATIFL 

       370        380        390        400        410        420 
AVVMALLSLH CLAAFKRLEH KEVLVGLLFL VFPFIPASNL FFRVGFVVAE RVLYMPSMGY 

       430        440        450        460        470        480 
CILFVHGLSK LCTWLNRCGA TTLIVSTVLL LLLFSWKTVK QNEIWLSRES LFRSGVQTLP 

       490        500        510        520        530        540 
HNAKVHYNYA NFLKDQGRNK EAIYHYRTAL KLYPRHASAL NNLGTLTRDT AEAKMYYQRA 

       550        560        570        580        590        600 
LQLHPQHNRA LFNLGNLLKS QEKKEEAITL LKDSIKYGPE FADAYSSLAS LLAEQERFKE 

       610        620        630        640        650        660 
AEEIYQTGIK NCPDSSDLHN NYGVFLVDTG LPEKAVAHYQ QAIKLSPSHH VAMVNLGRLY 

       670        680        690        700        710        720 
RSLGENSMAE EWYKRALQVA HKAEILSPLG ALYYNTGRYE EALQIYQEAA ALQPSQRELR 

       730        740        750        760        770        780 
LALAQVLAVM GQTKEAEKMT NHIVSEETGC LECYRLLSAI YSKQENHDKA LDAIDKALQL 

       790        800        810        820        830        840 
KPKDPKVISE LFFTKGNQLR EQNLLDKAFE SYRVAVQLNP DQAQAWMNMG GIQHIKGKYV 

       850        860        870        880 
SARAYYERAL QLVPDSKLLK ENLAKLDRLE KRLQEVREKD QT 

« Hide

Isoform 1 [UniParc].

Checksum: 581E5B9CF1EECDC1
Show »

FASTA77487,338
Isoform 2 [UniParc].

Checksum: 7921799C6F773F78
Show »

FASTA64573,982
Isoform 3 [UniParc].

Checksum: 53A7A270B3437DB9
Show »

FASTA57465,021
Isoform 4 [UniParc].

Checksum: 3357413F194C2B78
Show »

FASTA22725,859

References

« Hide 'large scale' references
[1]"TMTC1A: A novel member of TPR motif family, as a potential chaperone of HSP70 and HSP90."
Shen M.Q., Gu W.J., Fu H.L., Li J.M.
Submitted (SEP-2009) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 5).
Tissue: Mammary gland.
[2]"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] (ISOFORMS 2 AND 3).
Tissue: Hippocampus.
[3]"The finished DNA sequence of human chromosome 12."
Scherer S.E., Muzny D.M., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J., Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R. expand/collapse author list , Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Montgomery K.T., Morgan M.B., Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Lovering R.C., Wheeler D.A., Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z., Clerc-Blankenburg K.P., Davis C., Delgado O., Dinh H.H., Draper H., Gonzalez-Garay M.L., Havlak P., Jackson L.R., Jacob L.S., Kelly S.H., Li L., Li Z., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Pasternak S., Perez L.M., Plopper F.J.H., Santibanez J., Shen H., Tabor P.E., Verduzco D., Waldron L., Wang Q., Williams G.A., Zhang J., Zhou J., Allen C.C., Amin A.G., Anyalebechi V., Bailey M., Barbaria J.A., Bimage K.E., Bryant N.P., Burch P.E., Burkett C.E., Burrell K.L., Calderon E., Cardenas V., Carter K., Casias K., Cavazos I., Cavazos S.R., Ceasar H., Chacko J., Chan S.N., Chavez D., Christopoulos C., Chu J., Cockrell R., Cox C.D., Dang M., Dathorne S.R., David R., Davis C.M., Davy-Carroll L., Deshazo D.R., Donlin J.E., D'Souza L., Eaves K.A., Egan A., Emery-Cohen A.J., Escotto M., Flagg N., Forbes L.D., Gabisi A.M., Garza M., Hamilton C., Henderson N., Hernandez O., Hines S., Hogues M.E., Huang M., Idlebird D.G., Johnson R., Jolivet A., Jones S., Kagan R., King L.M., Leal B., Lebow H., Lee S., LeVan J.M., Lewis L.C., London P., Lorensuhewa L.M., Loulseged H., Lovett D.A., Lucier A., Lucier R.L., Ma J., Madu R.C., Mapua P., Martindale A.D., Martinez E., Massey E., Mawhiney S., Meador M.G., Mendez S., Mercado C., Mercado I.C., Merritt C.E., Miner Z.L., Minja E., Mitchell T., Mohabbat F., Mohabbat K., Montgomery B., Moore N., Morris S., Munidasa M., Ngo R.N., Nguyen N.B., Nickerson E., Nwaokelemeh O.O., Nwokenkwo S., Obregon M., Oguh M., Oragunye N., Oviedo R.J., Parish B.J., Parker D.N., Parrish J., Parks K.L., Paul H.A., Payton B.A., Perez A., Perrin W., Pickens A., Primus E.L., Pu L.-L., Puazo M., Quiles M.M., Quiroz J.B., Rabata D., Reeves K., Ruiz S.J., Shao H., Sisson I., Sonaike T., Sorelle R.P., Sutton A.E., Svatek A.F., Svetz L.A., Tamerisa K.S., Taylor T.R., Teague B., Thomas N., Thorn R.D., Trejos Z.Y., Trevino B.K., Ukegbu O.N., Urban J.B., Vasquez L.I., Vera V.A., Villasana D.M., Wang L., Ward-Moore S., Warren J.T., Wei X., White F., Williamson A.L., Wleczyk R., Wooden H.S., Wooden S.H., Yen J., Yoon L., Yoon V., Zorrilla S.E., Nelson D., Kucherlapati R., Weinstock G., Gibbs R.A.
Nature 440:346-351(2006) [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 1 AND 4), VARIANT LEU-814.
Tissue: Pancreas and Testis.
[5]"Gene cloning of human adenocarcinoma cell line."
Yanqiu Z., Huazhang A., Fei L., Yongquan S., Xin W., Taidong Q., Baojun C., Kaichun W., Jie D., Daiming F.
Submitted (NOV-2000) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 704-882 (ISOFORMS 1/2/4/5).
Tissue: Stomach cancer.
[6]"Characterizing the neurite outgrowth inhibitory effect of Mani."
Mishra M., Lee S., Lin M.K., Yamashita T., Heese K.
FEBS Lett. 586:3018-3023(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: INTERACTION WITH FAM168B.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
GQ865601 mRNA. Translation: ACX30004.1.
AK055962 mRNA. Translation: BAB71057.1.
AK127297 mRNA. Translation: BAC86923.1.
AC009320 Genomic DNA. No translation available.
AC009510 Genomic DNA. No translation available.
AC012151 Genomic DNA. No translation available.
AC022078 Genomic DNA. No translation available.
BC028716 mRNA. Translation: AAH28716.1.
BC042083 mRNA. Translation: AAH42083.1.
AF319520 mRNA. Translation: AAK32121.1. Different initiation.
CCDSCCDS53772.1. [Q8IUR5-5]
CCDS8718.1. [Q8IUR5-1]
RefSeqNP_001180380.1. NM_001193451.1. [Q8IUR5-5]
NP_787057.2. NM_175861.3. [Q8IUR5-1]
UniGeneHs.401954.

3D structure databases

ProteinModelPortalQ8IUR5.
SMRQ8IUR5. Positions 461-856.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

IntActQ8IUR5. 2 interactions.
MINTMINT-8383569.
STRING9606.ENSP00000256062.

PTM databases

PhosphoSiteQ8IUR5.

Polymorphism databases

DMDM347595775.

Proteomic databases

PaxDbQ8IUR5.
PRIDEQ8IUR5.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000256062; ENSP00000256062; ENSG00000133687. [Q8IUR5-1]
ENST00000381224; ENSP00000370622; ENSG00000133687. [Q8IUR5-3]
ENST00000539277; ENSP00000442046; ENSG00000133687. [Q8IUR5-5]
GeneID83857.
KEGGhsa:83857.
UCSCuc001riy.3. human. [Q8IUR5-4]
uc001riz.3. human. [Q8IUR5-5]
uc001rja.3. human. [Q8IUR5-2]
uc001rjc.1. human. [Q8IUR5-3]

Organism-specific databases

CTD83857.
GeneCardsGC12M029653.
HGNCHGNC:24099. TMTC1.
HPAHPA016720.
neXtProtNX_Q8IUR5.
PharmGKBPA142670718.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG0457.
HOVERGENHBG106148.
InParanoidQ8IUR5.
OrthoDBEOG72RMXM.
PhylomeDBQ8IUR5.
TreeFamTF328339.

Gene expression databases

ArrayExpressQ8IUR5.
BgeeQ8IUR5.
CleanExHS_TMTC1.
GenevestigatorQ8IUR5.

Family and domain databases

Gene3D1.25.40.10. 4 hits.
InterProIPR013618. DUF1736.
IPR013026. TPR-contain_dom.
IPR011990. TPR-like_helical.
IPR001440. TPR_1.
IPR019734. TPR_repeat.
[Graphical view]
PfamPF08409. DUF1736. 1 hit.
PF00515. TPR_1. 3 hits.
[Graphical view]
SMARTSM00028. TPR. 10 hits.
[Graphical view]
PROSITEPS50005. TPR. 10 hits.
PS50293. TPR_REGION. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSTMTC1. human.
GenomeRNAi83857.
NextBio72853.
PROQ8IUR5.

Entry information

Entry nameTMTC1_HUMAN
AccessionPrimary (citable) accession number: Q8IUR5
Secondary accession number(s): D0EP37 expand/collapse secondary AC list , F5H8B5, Q6PIU4, Q6ZSM5, Q96N52, Q9BXM2
Entry history
Integrated into UniProtKB/Swiss-Prot: March 20, 2007
Last sequence update: September 21, 2011
Last modified: July 9, 2014
This is version 105 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

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