TEFM_HUMAN
ID TEFM_HUMAN Reviewed; 360 AA.
AC Q96QE5; E1P655; Q6GPG5; Q6PJ19; Q96H04; Q9H5Z9;
DT 22-JUL-2008, integrated into UniProtKB/Swiss-Prot.
DT 01-DEC-2001, sequence version 1.
DT 03-AUG-2022, entry version 157.
DE RecName: Full=Transcription elongation factor, mitochondrial;
DE Flags: Precursor;
GN Name=TEFM; Synonyms=C17orf42;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
RX PubMed=11468690; DOI=10.1086/323043;
RA Jenne D.E., Tinschert S., Reimann H., Lasinger W., Thiel G., Hameister H.,
RA Kehrer-Sawatzki H.;
RT "Molecular characterization and gene content of breakpoint boundaries in
RT patients with neurofibromatosis type 1 with 17q11.2 microdeletions.";
RL Am. J. Hum. Genet. 69:516-527(2001).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Small intestine;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 11-360 (ISOFORM 1), AND
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 90-360 (ISOFORM 2).
RC TISSUE=Brain, and PNS;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 203-360 (ISOFORM 1).
RA Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B.;
RT "Cloning of human full open reading frames in Gateway(TM) system entry
RT vector (pDONR201).";
RL Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases.
RN [6]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=21269460; DOI=10.1186/1752-0509-5-17;
RA Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T.,
RA Bennett K.L., Superti-Furga G., Colinge J.;
RT "Initial characterization of the human central proteome.";
RL BMC Syst. Biol. 5:17-17(2011).
RN [7]
RP FUNCTION, SUBCELLULAR LOCATION, AND INTERACTION WITH POLRMT.
RX PubMed=21278163; DOI=10.1093/nar/gkq1224;
RA Minczuk M., He J., Duch A.M., Ettema T.J., Chlebowski A., Dzionek K.,
RA Nijtmans L.G., Huynen M.A., Holt I.J.;
RT "TEFM (c17orf42) is necessary for transcription of human mtDNA.";
RL Nucleic Acids Res. 39:4284-4299(2011).
RN [8]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=25944712; DOI=10.1002/pmic.201400617;
RA Vaca Jacome A.S., Rabilloud T., Schaeffer-Reiss C., Rompais M., Ayoub D.,
RA Lane L., Bairoch A., Van Dorsselaer A., Carapito C.;
RT "N-terminome analysis of the human mitochondrial proteome.";
RL Proteomics 15:2519-2524(2015).
CC -!- FUNCTION: Transcription elongation factor which increases mitochondrial
CC RNA polymerase processivity. Regulates transcription of the
CC mitochondrial genome, including genes important for the oxidative
CC phosphorylation machinery. {ECO:0000269|PubMed:21278163}.
CC -!- SUBUNIT: Interacts with POLRMT. {ECO:0000269|PubMed:21278163}.
CC -!- INTERACTION:
CC Q96QE5; O00411: POLRMT; NbExp=6; IntAct=EBI-725550, EBI-355145;
CC -!- SUBCELLULAR LOCATION: Mitochondrion matrix
CC {ECO:0000269|PubMed:21278163}. Mitochondrion matrix, mitochondrion
CC nucleoid {ECO:0000269|PubMed:21278163}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q96QE5-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q96QE5-4; Sequence=VSP_040808, VSP_040809;
CC -!- SIMILARITY: Belongs to the TEFM family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAH73169.1; Type=Erroneous translation; Note=Wrong choice of CDS.; Evidence={ECO:0000305};
CC Sequence=BAB15468.1; Type=Erroneous translation; Note=Wrong choice of CDS.; Evidence={ECO:0000305};
CC ---------------------------------------------------------------------------
CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms
CC Distributed under the Creative Commons Attribution (CC BY 4.0) License
CC ---------------------------------------------------------------------------
DR EMBL; AJ314645; CAC44534.1; -; mRNA.
DR EMBL; AK026382; BAB15468.1; ALT_SEQ; mRNA.
DR EMBL; CH471147; EAW80290.1; -; Genomic_DNA.
DR EMBL; CH471147; EAW80292.1; -; Genomic_DNA.
DR EMBL; BC009025; AAH09025.2; -; mRNA.
DR EMBL; BC073169; AAH73169.1; ALT_SEQ; mRNA.
DR EMBL; CR457360; CAG33641.1; -; mRNA.
DR CCDS; CCDS42291.1; -. [Q96QE5-1]
DR RefSeq; NP_078959.3; NM_024683.3. [Q96QE5-1]
DR PDB; 5OL8; X-ray; 1.90 A; A/B/C/D=51-360.
DR PDB; 5OL9; X-ray; 1.30 A; A=36-134.
DR PDB; 5OLA; X-ray; 3.90 A; A/B/C/D=136-360.
DR PDBsum; 5OL8; -.
DR PDBsum; 5OL9; -.
DR PDBsum; 5OLA; -.
DR AlphaFoldDB; Q96QE5; -.
DR SMR; Q96QE5; -.
DR BioGRID; 122850; 215.
DR IntAct; Q96QE5; 32.
DR MINT; Q96QE5; -.
DR STRING; 9606.ENSP00000462963; -.
DR GlyGen; Q96QE5; 1 site, 1 O-linked glycan (1 site).
DR iPTMnet; Q96QE5; -.
DR PhosphoSitePlus; Q96QE5; -.
DR BioMuta; TEFM; -.
DR DMDM; 74761050; -.
DR EPD; Q96QE5; -.
DR jPOST; Q96QE5; -.
DR MassIVE; Q96QE5; -.
DR MaxQB; Q96QE5; -.
DR PaxDb; Q96QE5; -.
DR PeptideAtlas; Q96QE5; -.
DR PRIDE; Q96QE5; -.
DR ProteomicsDB; 77865; -. [Q96QE5-1]
DR ProteomicsDB; 77866; -. [Q96QE5-4]
DR Antibodypedia; 7311; 105 antibodies from 19 providers.
DR DNASU; 79736; -.
DR Ensembl; ENST00000306049.9; ENSP00000306574.5; ENSG00000172171.11. [Q96QE5-4]
DR Ensembl; ENST00000581216.6; ENSP00000462963.1; ENSG00000172171.11. [Q96QE5-1]
DR GeneID; 79736; -.
DR KEGG; hsa:79736; -.
DR MANE-Select; ENST00000581216.6; ENSP00000462963.1; NM_024683.4; NP_078959.3.
DR UCSC; uc002hfu.3; human. [Q96QE5-1]
DR CTD; 79736; -.
DR DisGeNET; 79736; -.
DR GeneCards; TEFM; -.
DR HGNC; HGNC:26223; TEFM.
DR HPA; ENSG00000172171; Low tissue specificity.
DR MIM; 616422; gene.
DR neXtProt; NX_Q96QE5; -.
DR OpenTargets; ENSG00000172171; -.
DR PharmGKB; PA142672226; -.
DR VEuPathDB; HostDB:ENSG00000172171; -.
DR eggNOG; ENOG502QPVB; Eukaryota.
DR GeneTree; ENSGT00390000010581; -.
DR HOGENOM; CLU_066790_0_0_1; -.
DR InParanoid; Q96QE5; -.
DR OMA; ESPQMAQ; -.
DR OrthoDB; 1096937at2759; -.
DR PhylomeDB; Q96QE5; -.
DR TreeFam; TF325413; -.
DR PathwayCommons; Q96QE5; -.
DR SignaLink; Q96QE5; -.
DR BioGRID-ORCS; 79736; 270 hits in 1085 CRISPR screens.
DR ChiTaRS; TEFM; human.
DR GenomeRNAi; 79736; -.
DR Pharos; Q96QE5; Tbio.
DR PRO; PR:Q96QE5; -.
DR Proteomes; UP000005640; Chromosome 17.
DR RNAct; Q96QE5; protein.
DR Bgee; ENSG00000172171; Expressed in tendon of biceps brachii and 190 other tissues.
DR ExpressionAtlas; Q96QE5; baseline and differential.
DR Genevisible; Q96QE5; HS.
DR GO; GO:0005759; C:mitochondrial matrix; IDA:UniProtKB.
DR GO; GO:0042645; C:mitochondrial nucleoid; IDA:UniProtKB.
DR GO; GO:0005739; C:mitochondrion; IDA:HPA.
DR GO; GO:1990904; C:ribonucleoprotein complex; IDA:UniProtKB.
DR GO; GO:0030337; F:DNA polymerase processivity factor activity; IDA:UniProtKB.
DR GO; GO:0003723; F:RNA binding; HDA:UniProtKB.
DR GO; GO:0006390; P:mitochondrial transcription; IMP:UniProtKB.
DR GO; GO:0006119; P:oxidative phosphorylation; IMP:UniProtKB.
DR GO; GO:0006392; P:transcription elongation from mitochondrial promoter; IEA:InterPro.
DR Gene3D; 3.30.420.10; -; 1.
DR InterPro; IPR012337; RNaseH-like_sf.
DR InterPro; IPR036397; RNaseH_sf.
DR InterPro; IPR010994; RuvA_2-like.
DR InterPro; IPR039150; TEFM.
DR PANTHER; PTHR21053; PTHR21053; 1.
DR SUPFAM; SSF47781; SSF47781; 1.
DR SUPFAM; SSF53098; SSF53098; 1.
PE 1: Evidence at protein level;
KW 3D-structure; Alternative splicing; Mitochondrion; Mitochondrion nucleoid;
KW Reference proteome; Transcription; Transcription regulation;
KW Transit peptide.
FT TRANSIT 1..35
FT /note="Mitochondrion"
FT /evidence="ECO:0000255"
FT CHAIN 36..360
FT /note="Transcription elongation factor, mitochondrial"
FT /id="PRO_0000406329"
FT VAR_SEQ 166..171
FT /note="AVNSII -> NCLGSP (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039,
FT ECO:0000303|PubMed:15489334"
FT /id="VSP_040808"
FT VAR_SEQ 172..360
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039,
FT ECO:0000303|PubMed:15489334"
FT /id="VSP_040809"
FT VARIANT 348
FT /note="I -> V (in dbSNP:rs2433)"
FT /id="VAR_045689"
FT CONFLICT 232
FT /note="E -> K (in Ref. 4; AAH09025/AAH73169)"
FT /evidence="ECO:0000305"
FT HELIX 61..64
FT /evidence="ECO:0007829|PDB:5OL9"
FT HELIX 67..79
FT /evidence="ECO:0007829|PDB:5OL9"
FT HELIX 82..85
FT /evidence="ECO:0007829|PDB:5OL9"
FT HELIX 89..91
FT /evidence="ECO:0007829|PDB:5OL9"
FT HELIX 94..106
FT /evidence="ECO:0007829|PDB:5OL9"
FT STRAND 110..112
FT /evidence="ECO:0007829|PDB:5OL9"
FT HELIX 113..117
FT /evidence="ECO:0007829|PDB:5OL9"
FT HELIX 123..134
FT /evidence="ECO:0007829|PDB:5OL9"
FT STRAND 155..157
FT /evidence="ECO:0007829|PDB:5OL8"
FT HELIX 161..165
FT /evidence="ECO:0007829|PDB:5OL8"
FT STRAND 169..175
FT /evidence="ECO:0007829|PDB:5OL8"
FT STRAND 177..186
FT /evidence="ECO:0007829|PDB:5OL8"
FT STRAND 190..198
FT /evidence="ECO:0007829|PDB:5OL8"
FT STRAND 202..205
FT /evidence="ECO:0007829|PDB:5OL8"
FT HELIX 209..220
FT /evidence="ECO:0007829|PDB:5OL8"
FT STRAND 227..233
FT /evidence="ECO:0007829|PDB:5OL8"
FT HELIX 244..261
FT /evidence="ECO:0007829|PDB:5OL8"
FT HELIX 265..268
FT /evidence="ECO:0007829|PDB:5OL8"
FT STRAND 273..277
FT /evidence="ECO:0007829|PDB:5OL8"
FT HELIX 278..284
FT /evidence="ECO:0007829|PDB:5OL8"
FT HELIX 297..305
FT /evidence="ECO:0007829|PDB:5OL8"
FT STRAND 314..316
FT /evidence="ECO:0007829|PDB:5OL8"
FT HELIX 319..331
FT /evidence="ECO:0007829|PDB:5OL8"
FT TURN 332..336
FT /evidence="ECO:0007829|PDB:5OL8"
FT HELIX 338..354
FT /evidence="ECO:0007829|PDB:5OL8"
SQ SEQUENCE 360 AA; 41676 MW; 2D3473AC87D2650C CRC64;
MSGSVLFTAG ERWRCFLTPS RSSLYWALHN FCCRKKSTTP KKITPNVTFC DENAKEPENA
LDKLFSSEQQ ASILHVLNTA STKELEAFRL LRGRRSINIV EHRENFGPFQ NLESLMNVPL
FKYKSTVQVC NSILCPKTGR EKRKSPENRF LRKLLKPDIE RERLKAVNSI ISIVFGTRRI
AWAHLDRKLT VLDWQQSDRW SLMRGIYSSS VYLEEISSII SKMPKADFYV LEKTGLSIQN
SSLFPILLHF HIMEAMLYAL LNKTFAQDGQ HQVLSMNRNA VGKHFELMIG DSRTSGKELV
KQFLFDSILK ADPRVFFPSD KIVHYRQMFL STELQRVEEL YDSLLQAIAF YELAVFDSQP
