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Protein

Transmembrane protein 70, mitochondrial

Gene

TMEM70

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Involved in biogenesis of mitochondrial ATP synthase.2 Publications

GO - Biological processi

  • mitochondrial proton-transporting ATP synthase complex assembly Source: UniProtKB
Complete GO annotation...

Names & Taxonomyi

Protein namesi
Recommended name:
Transmembrane protein 70, mitochondrial
Gene namesi
Name:TMEM70
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 8

Organism-specific databases

HGNCiHGNC:26050. TMEM70.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei103 – 12321HelicalSequence analysisAdd
BLAST
Transmembranei142 – 16221HelicalSequence analysisAdd
BLAST

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Membrane, Mitochondrion, Mitochondrion inner membrane

Pathology & Biotechi

Involvement in diseasei

Mitochondrial complex V deficiency, nuclear 2 (MC5DN2)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA mitochondrial disorder with heterogeneous clinical manifestations including dysmorphic features, psychomotor retardation, hypotonia, growth retardation, cardiomyopathy, enlarged liver, hypoplastic kidneys and elevated lactate levels in urine, plasma and cerebrospinal fluid.
See also OMIM:614052
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti210 – 2101T → P in MC5DN2. 1 Publication
VAR_068847

Organism-specific databases

MalaCardsiTMEM70.
MIMi614052. phenotype.
Orphaneti1194. Mitochondrial encephalo-cardio-myopathy due to TMEM70 deficiency.
PharmGKBiPA142670783.

Polymorphism and mutation databases

BioMutaiTMEM70.
DMDMi74733203.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transit peptidei1 – 8181MitochondrionSequence analysisAdd
BLAST
Chaini82 – 260179Transmembrane protein 70, mitochondrialPRO_0000251472Add
BLAST

Proteomic databases

EPDiQ9BUB7.
MaxQBiQ9BUB7.
PaxDbiQ9BUB7.
PRIDEiQ9BUB7.
TopDownProteomicsiQ9BUB7-1. [Q9BUB7-1]
Q9BUB7-2. [Q9BUB7-2]

PTM databases

iPTMnetiQ9BUB7.
PhosphoSiteiQ9BUB7.
SwissPalmiQ9BUB7.

Expressioni

Gene expression databases

BgeeiQ9BUB7.
CleanExiHS_TMEM70.
ExpressionAtlasiQ9BUB7. baseline and differential.
GenevisibleiQ9BUB7. HS.

Organism-specific databases

HPAiCAB034226.
HPA023187.

Interactioni

Protein-protein interaction databases

BioGridi120305. 23 interactions.
IntActiQ9BUB7. 4 interactions.
MINTiMINT-1377851.
STRINGi9606.ENSP00000312599.

Structurei

3D structure databases

ProteinModelPortaliQ9BUB7.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the TMEM70 family.Curated

Keywords - Domaini

Transit peptide, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG4478. Eukaryota.
ENOG4111HEE. LUCA.
GeneTreeiENSGT00390000018710.
HOGENOMiHOG000045718.
HOVERGENiHBG073273.
InParanoidiQ9BUB7.
KOiK17966.
OMAiPYIFAQN.
PhylomeDBiQ9BUB7.
TreeFamiTF314656.

Family and domain databases

InterProiIPR009724. TMEM70.
[Graphical view]
PANTHERiPTHR13281. PTHR13281. 1 hit.
PfamiPF06979. TMEM70. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

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

Isoform 1 (identifier: Q9BUB7-1) [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
MLFLALGSPW AVELPLCGRR TALCAAAALR GPRASVSRAS SSSGPSGPVA
60 70 80 90 100
GWSTGPSGAA RLLRRPGRAQ IPVYWEGYVR FLNTPSDKSE DGRLIYTGNM
110 120 130 140 150
ARAVFGVKCF SYSTSLIGLT FLPYIFTQNN AISESVPLPI QIIFYGIMGS
160 170 180 190 200
FTVITPVLLH FITKGYVIRL YHEATTDTYK AITYNAMLAE TSTVFHQNDV
210 220 230 240 250
KIPDAKHVFT TFYAKTKSLL VNPVLFPNRE DYIHLMGYDK EEFILYMEET
260
SEEKRHKDDK
Length:260
Mass (Da):28,969
Last modified:March 1, 2004 - v2
Checksum:i6206F853D18F12DC
GO
Isoform 2 (identifier: Q9BUB7-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-99: Missing.

Note: No experimental confirmation available.
Show »
Length:161
Mass (Da):18,570
Checksum:i9672A5EBBB1FDC99
GO
Isoform 3 (identifier: Q9BUB7-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     107-107: V → K
     108-260: Missing.

Note: No experimental confirmation available. Gene prediction based on EST data.
Show »
Length:107
Mass (Da):11,278
Checksum:i3A005E780B166F16
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti34 – 341A → P.
Corresponds to variant rs8075 [ dbSNP | Ensembl ].
VAR_027686
Natural varianti210 – 2101T → P in MC5DN2. 1 Publication
VAR_068847
Natural varianti228 – 2281N → K.
Corresponds to variant rs35564486 [ dbSNP | Ensembl ].
VAR_034565
Natural varianti250 – 2501T → A.1 Publication
Corresponds to variant rs1053079 [ dbSNP | Ensembl ].
VAR_027687
Natural varianti259 – 2591D → E.1 Publication
Corresponds to variant rs1053077 [ dbSNP | Ensembl ].
VAR_027688

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 9999Missing in isoform 2. 1 PublicationVSP_020759Add
BLAST
Alternative sequencei107 – 1071V → K in isoform 3. CuratedVSP_054227
Alternative sequencei108 – 260153Missing in isoform 3. CuratedVSP_054228Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK000540 mRNA. Translation: BAA91240.1.
AC022868 Genomic DNA. No translation available.
BC002748 mRNA. Translation: AAH02748.2.
CCDSiCCDS47876.1. [Q9BUB7-3]
CCDS6215.1. [Q9BUB7-1]
RefSeqiNP_001035703.1. NM_001040613.2. [Q9BUB7-3]
NP_060336.3. NM_017866.5. [Q9BUB7-1]
UniGeneiHs.106650.

Genome annotation databases

EnsembliENST00000312184; ENSP00000312599; ENSG00000175606. [Q9BUB7-1]
ENST00000517439; ENSP00000429467; ENSG00000175606. [Q9BUB7-3]
GeneIDi54968.
KEGGihsa:54968.
UCSCiuc003yab.4. human. [Q9BUB7-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK000540 mRNA. Translation: BAA91240.1.
AC022868 Genomic DNA. No translation available.
BC002748 mRNA. Translation: AAH02748.2.
CCDSiCCDS47876.1. [Q9BUB7-3]
CCDS6215.1. [Q9BUB7-1]
RefSeqiNP_001035703.1. NM_001040613.2. [Q9BUB7-3]
NP_060336.3. NM_017866.5. [Q9BUB7-1]
UniGeneiHs.106650.

3D structure databases

ProteinModelPortaliQ9BUB7.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi120305. 23 interactions.
IntActiQ9BUB7. 4 interactions.
MINTiMINT-1377851.
STRINGi9606.ENSP00000312599.

PTM databases

iPTMnetiQ9BUB7.
PhosphoSiteiQ9BUB7.
SwissPalmiQ9BUB7.

Polymorphism and mutation databases

BioMutaiTMEM70.
DMDMi74733203.

Proteomic databases

EPDiQ9BUB7.
MaxQBiQ9BUB7.
PaxDbiQ9BUB7.
PRIDEiQ9BUB7.
TopDownProteomicsiQ9BUB7-1. [Q9BUB7-1]
Q9BUB7-2. [Q9BUB7-2]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000312184; ENSP00000312599; ENSG00000175606. [Q9BUB7-1]
ENST00000517439; ENSP00000429467; ENSG00000175606. [Q9BUB7-3]
GeneIDi54968.
KEGGihsa:54968.
UCSCiuc003yab.4. human. [Q9BUB7-1]

Organism-specific databases

CTDi54968.
GeneCardsiTMEM70.
HGNCiHGNC:26050. TMEM70.
HPAiCAB034226.
HPA023187.
MalaCardsiTMEM70.
MIMi612418. gene.
614052. phenotype.
neXtProtiNX_Q9BUB7.
Orphaneti1194. Mitochondrial encephalo-cardio-myopathy due to TMEM70 deficiency.
PharmGKBiPA142670783.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4478. Eukaryota.
ENOG4111HEE. LUCA.
GeneTreeiENSGT00390000018710.
HOGENOMiHOG000045718.
HOVERGENiHBG073273.
InParanoidiQ9BUB7.
KOiK17966.
OMAiPYIFAQN.
PhylomeDBiQ9BUB7.
TreeFamiTF314656.

Miscellaneous databases

GenomeRNAii54968.
PROiQ9BUB7.
SOURCEiSearch...

Gene expression databases

BgeeiQ9BUB7.
CleanExiHS_TMEM70.
ExpressionAtlasiQ9BUB7. baseline and differential.
GenevisibleiQ9BUB7. HS.

Family and domain databases

InterProiIPR009724. TMEM70.
[Graphical view]
PANTHERiPTHR13281. PTHR13281. 1 hit.
PfamiPF06979. TMEM70. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  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.
    , 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] (ISOFORM 2), VARIANTS ALA-250 AND GLU-259.
  2. "DNA sequence and analysis of human chromosome 8."
    Nusbaum C., Mikkelsen T.S., Zody M.C., Asakawa S., Taudien S., Garber M., Kodira C.D., Schueler M.G., Shimizu A., Whittaker C.A., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Yang X., Allen N.R., Anderson S., Asakawa T.
    , Blechschmidt K., Bloom T., Borowsky M.L., Butler J., Cook A., Corum B., DeArellano K., DeCaprio D., Dooley K.T., Dorris L. III, Engels R., Gloeckner G., Hafez N., Hagopian D.S., Hall J.L., Ishikawa S.K., Jaffe D.B., Kamat A., Kudoh J., Lehmann R., Lokitsang T., Macdonald P., Major J.E., Matthews C.D., Mauceli E., Menzel U., Mihalev A.H., Minoshima S., Murayama Y., Naylor J.W., Nicol R., Nguyen C., O'Leary S.B., O'Neill K., Parker S.C.J., Polley A., Raymond C.K., Reichwald K., Rodriguez J., Sasaki T., Schilhabel M., Siddiqui R., Smith C.L., Sneddon T.P., Talamas J.A., Tenzin P., Topham K., Venkataraman V., Wen G., Yamazaki S., Young S.K., Zeng Q., Zimmer A.R., Rosenthal A., Birren B.W., Platzer M., Shimizu N., Lander E.S.
    Nature 439:331-335(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. "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).
    Tissue: Uterus.
  4. Cited for: FUNCTION, INVOLVEMENT IN MC5DN2.
  5. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  6. Cited for: FUNCTION, SUBCELLULAR LOCATION.
  7. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  8. "TMEM70: a mutational hot spot in nuclear ATP synthase deficiency with a pivotal role in complex V biogenesis."
    Torraco A., Verrigni D., Rizza T., Meschini M.C., Vazquez-Memije M.E., Martinelli D., Bianchi M., Piemonte F., Dionisi-Vici C., Santorelli F.M., Bertini E., Carrozzo R.
    Neurogenetics 13:375-386(2012) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT MC5DN2 PRO-210.

Entry informationi

Entry nameiTMM70_HUMAN
AccessioniPrimary (citable) accession number: Q9BUB7
Secondary accession number(s): E9PDY9, Q9NWY5
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 3, 2006
Last sequence update: March 1, 2004
Last modified: June 8, 2016
This is version 115 of the entry and version 2 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 8
    Human chromosome 8: 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. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. 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.