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Protein

Transcription elongation factor, mitochondrial

Gene

TEFM

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

Functioni

Transcription elongation factor which increases mitochondrial RNA polymerase processivity. Regulates transcription of the mitochondrial genome, including genes important for the oxidative phosphorylation machinery.1 Publication

GO - Molecular functioni

  • DNA polymerase processivity factor activity Source: UniProtKB
  • poly(A) RNA binding Source: UniProtKB

GO - Biological processi

  • DNA metabolic process Source: GOC
  • oxidative phosphorylation Source: UniProtKB
  • regulation of transcription, DNA-templated Source: UniProtKB-KW
  • transcription from mitochondrial promoter Source: UniProtKB
Complete GO annotation...

Keywords - Biological processi

Transcription, Transcription regulation

Names & Taxonomyi

Protein namesi
Recommended name:
Transcription elongation factor, mitochondrial
Gene namesi
Name:TEFM
Synonyms:C17orf42
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 17

Organism-specific databases

HGNCiHGNC:26223. TEFM.

Subcellular locationi

GO - Cellular componenti

  • intracellular ribonucleoprotein complex Source: UniProtKB
  • mitochondrial matrix Source: UniProtKB
  • mitochondrial nucleoid Source: UniProtKB
  • mitochondrion Source: HPA
Complete GO annotation...

Keywords - Cellular componenti

Mitochondrion, Mitochondrion nucleoid

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA142672226.

Polymorphism and mutation databases

BioMutaiTEFM.
DMDMi74761050.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transit peptidei1 – 3535MitochondrionSequence analysisAdd
BLAST
Chaini36 – 360325Transcription elongation factor, mitochondrialPRO_0000406329Add
BLAST

Proteomic databases

EPDiQ96QE5.
MaxQBiQ96QE5.
PaxDbiQ96QE5.
PRIDEiQ96QE5.

PTM databases

iPTMnetiQ96QE5.
PhosphoSiteiQ96QE5.

Expressioni

Gene expression databases

BgeeiQ96QE5.
CleanExiHS_C17orf42.
ExpressionAtlasiQ96QE5. baseline and differential.
GenevisibleiQ96QE5. HS.

Organism-specific databases

HPAiHPA023788.
HPA053044.

Interactioni

Subunit structurei

Interacts with POLRMT.1 Publication

Protein-protein interaction databases

BioGridi122850. 8 interactions.
IntActiQ96QE5. 6 interactions.
MINTiMINT-1382214.
STRINGi9606.ENSP00000462963.

Structurei

3D structure databases

ProteinModelPortaliQ96QE5.
SMRiQ96QE5. Positions 61-134.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the TEFM family.Curated

Keywords - Domaini

Transit peptide

Phylogenomic databases

eggNOGiENOG410IHBW. Eukaryota.
ENOG410XQGF. LUCA.
GeneTreeiENSGT00390000010581.
HOVERGENiHBG107754.
InParanoidiQ96QE5.
KOiK17658.
OMAiPPRVLNM.
OrthoDBiEOG71CFMC.
PhylomeDBiQ96QE5.
TreeFamiTF325413.

Family and domain databases

Gene3Di1.10.150.310. 1 hit.
3.30.420.10. 1 hit.
InterProiIPR012337. RNaseH-like_dom.
IPR010994. RuvA_2-like.
IPR023097. Tex_RuvX-like_dom.
[Graphical view]
SUPFAMiSSF47781. SSF47781. 1 hit.
SSF53098. SSF53098. 1 hit.

Sequences (2)i

Sequence statusi: Complete.

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

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q96QE5-1) [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
MSGSVLFTAG ERWRCFLTPS RSSLYWALHN FCCRKKSTTP KKITPNVTFC
60 70 80 90 100
DENAKEPENA LDKLFSSEQQ ASILHVLNTA STKELEAFRL LRGRRSINIV
110 120 130 140 150
EHRENFGPFQ NLESLMNVPL FKYKSTVQVC NSILCPKTGR EKRKSPENRF
160 170 180 190 200
LRKLLKPDIE RERLKAVNSI ISIVFGTRRI AWAHLDRKLT VLDWQQSDRW
210 220 230 240 250
SLMRGIYSSS VYLEEISSII SKMPKADFYV LEKTGLSIQN SSLFPILLHF
260 270 280 290 300
HIMEAMLYAL LNKTFAQDGQ HQVLSMNRNA VGKHFELMIG DSRTSGKELV
310 320 330 340 350
KQFLFDSILK ADPRVFFPSD KIVHYRQMFL STELQRVEEL YDSLLQAIAF
360
YELAVFDSQP
Length:360
Mass (Da):41,676
Last modified:December 1, 2001 - v1
Checksum:i2D3473AC87D2650C
GO
Isoform 2 (identifier: Q96QE5-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     166-171: AVNSII → NCLGSP
     172-360: Missing.

Show »
Length:171
Mass (Da):19,736
Checksum:i2BD2D48E6C8D115A
GO

Sequence cautioni

The sequence AAH73169.1 differs from that shown. Reason: Erroneous translation. Wrong choice of CDS.Curated
The sequence BAB15468.1 differs from that shown. Reason: Erroneous translation. Wrong choice of CDS.Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti232 – 2321E → K in AAH09025 (PubMed:15489334).Curated
Sequence conflicti232 – 2321E → K in AAH73169 (PubMed:15489334).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti348 – 3481I → V.
Corresponds to variant rs2433 [ dbSNP | Ensembl ].
VAR_045689

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei166 – 1716AVNSII → NCLGSP in isoform 2. 2 PublicationsVSP_040808
Alternative sequencei172 – 360189Missing in isoform 2. 2 PublicationsVSP_040809Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ314645 mRNA. Translation: CAC44534.1.
AK026382 mRNA. Translation: BAB15468.1. Sequence problems.
CH471147 Genomic DNA. Translation: EAW80290.1.
CH471147 Genomic DNA. Translation: EAW80292.1.
BC009025 mRNA. Translation: AAH09025.2.
BC073169 mRNA. Translation: AAH73169.1. Sequence problems.
CR457360 mRNA. Translation: CAG33641.1.
CCDSiCCDS42291.1. [Q96QE5-1]
RefSeqiNP_078959.3. NM_024683.3. [Q96QE5-1]
UniGeneiHs.317340.

Genome annotation databases

EnsembliENST00000306049; ENSP00000306574; ENSG00000172171. [Q96QE5-4]
ENST00000581216; ENSP00000462963; ENSG00000172171. [Q96QE5-1]
GeneIDi79736.
KEGGihsa:79736.
UCSCiuc002hfu.3. human. [Q96QE5-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ314645 mRNA. Translation: CAC44534.1.
AK026382 mRNA. Translation: BAB15468.1. Sequence problems.
CH471147 Genomic DNA. Translation: EAW80290.1.
CH471147 Genomic DNA. Translation: EAW80292.1.
BC009025 mRNA. Translation: AAH09025.2.
BC073169 mRNA. Translation: AAH73169.1. Sequence problems.
CR457360 mRNA. Translation: CAG33641.1.
CCDSiCCDS42291.1. [Q96QE5-1]
RefSeqiNP_078959.3. NM_024683.3. [Q96QE5-1]
UniGeneiHs.317340.

3D structure databases

ProteinModelPortaliQ96QE5.
SMRiQ96QE5. Positions 61-134.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi122850. 8 interactions.
IntActiQ96QE5. 6 interactions.
MINTiMINT-1382214.
STRINGi9606.ENSP00000462963.

PTM databases

iPTMnetiQ96QE5.
PhosphoSiteiQ96QE5.

Polymorphism and mutation databases

BioMutaiTEFM.
DMDMi74761050.

Proteomic databases

EPDiQ96QE5.
MaxQBiQ96QE5.
PaxDbiQ96QE5.
PRIDEiQ96QE5.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000306049; ENSP00000306574; ENSG00000172171. [Q96QE5-4]
ENST00000581216; ENSP00000462963; ENSG00000172171. [Q96QE5-1]
GeneIDi79736.
KEGGihsa:79736.
UCSCiuc002hfu.3. human. [Q96QE5-1]

Organism-specific databases

CTDi79736.
GeneCardsiTEFM.
HGNCiHGNC:26223. TEFM.
HPAiHPA023788.
HPA053044.
MIMi616422. gene.
neXtProtiNX_Q96QE5.
PharmGKBiPA142672226.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IHBW. Eukaryota.
ENOG410XQGF. LUCA.
GeneTreeiENSGT00390000010581.
HOVERGENiHBG107754.
InParanoidiQ96QE5.
KOiK17658.
OMAiPPRVLNM.
OrthoDBiEOG71CFMC.
PhylomeDBiQ96QE5.
TreeFamiTF325413.

Miscellaneous databases

GenomeRNAii79736.
NextBioi69130.
PROiQ96QE5.
SOURCEiSearch...

Gene expression databases

BgeeiQ96QE5.
CleanExiHS_C17orf42.
ExpressionAtlasiQ96QE5. baseline and differential.
GenevisibleiQ96QE5. HS.

Family and domain databases

Gene3Di1.10.150.310. 1 hit.
3.30.420.10. 1 hit.
InterProiIPR012337. RNaseH-like_dom.
IPR010994. RuvA_2-like.
IPR023097. Tex_RuvX-like_dom.
[Graphical view]
SUPFAMiSSF47781. SSF47781. 1 hit.
SSF53098. SSF53098. 1 hit.
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "Molecular characterization and gene content of breakpoint boundaries in patients with neurofibromatosis type 1 with 17q11.2 microdeletions."
    Jenne D.E., Tinschert S., Reimann H., Lasinger W., Thiel G., Hameister H., Kehrer-Sawatzki H.
    Am. J. Hum. Genet. 69:516-527(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
  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.
    , 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).
    Tissue: Small intestine.
  3. 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] OF 11-360 (ISOFORM 1), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 90-360 (ISOFORM 2).
    Tissue: Brain and PNS.
  5. "Cloning of human full open reading frames in Gateway(TM) system entry vector (pDONR201)."
    Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B.
    Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 203-360 (ISOFORM 1).
  6. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  7. Cited for: FUNCTION, SUBCELLULAR LOCATION, INTERACTION WITH POLRMT.
  8. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

Entry informationi

Entry nameiTEFM_HUMAN
AccessioniPrimary (citable) accession number: Q96QE5
Secondary accession number(s): E1P655
, Q6GPG5, Q6PJ19, Q96H04, Q9H5Z9
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 22, 2008
Last sequence update: December 1, 2001
Last modified: April 13, 2016
This is version 112 of the entry and version 1 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 17
    Human chromosome 17: 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
  6. Uncharacterized protein families (UPF)
    List of uncharacterized protein family (UPF) entries

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.