TAM41_HUMAN
ID TAM41_HUMAN Reviewed; 452 AA.
AC Q96BW9; B4DIY7; C9J2U4;
DT 05-SEP-2006, integrated into UniProtKB/Swiss-Prot.
DT 19-MAR-2014, sequence version 2.
DT 03-AUG-2022, entry version 133.
DE RecName: Full=Phosphatidate cytidylyltransferase, mitochondrial;
DE EC=2.7.7.41 {ECO:0000250|UniProtKB:D3ZKT0};
DE AltName: Full=CDP-diacylglycerol synthase;
DE Short=CDP-DAG synthase;
DE AltName: Full=Mitochondrial translocator assembly and maintenance protein 41 homolog;
DE Short=TAM41;
GN Name=TAMM41; Synonyms=C3orf31;
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 [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Hippocampus;
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 [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16641997; DOI=10.1038/nature04728;
RA Muzny D.M., Scherer S.E., Kaul R., Wang J., Yu J., Sudbrak R., Buhay C.J.,
RA Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P.,
RA Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J., Jackson A.,
RA Khan Z.M., Kovar-Smith C., Lewis L.R., Lozado R.J., Metzker M.L.,
RA Milosavljevic A., Miner G.R., Morgan M.B., Nazareth L.V., Scott G.,
RA Sodergren E., Song X.-Z., Steffen D., Wei S., Wheeler D.A., Wright M.W.,
RA Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M.,
RA Brown M.J., Chen G., Chen Z., Clendenning J., Clerc-Blankenburg K.P.,
RA Chen R., Chen Z., Davis C., Delgado O., Dinh H.H., Dong W., Draper H.,
RA Ernst S., Fu G., Gonzalez-Garay M.L., Garcia D.K., Gillett W., Gu J.,
RA Hao B., Haugen E., Havlak P., He X., Hennig S., Hu S., Huang W.,
RA Jackson L.R., Jacob L.S., Kelly S.H., Kube M., Levy R., Li Z., Liu B.,
RA Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O.,
RA Palmeiri A., Pasternak S., Perez L.M., Phelps K.A., Plopper F.J., Qiang B.,
RA Raymond C., Rodriguez R., Saenphimmachak C., Santibanez J., Shen H.,
RA Shen Y., Subramanian S., Tabor P.E., Verduzco D., Waldron L., Wang J.,
RA Wang J., Wang Q., Williams G.A., Wong G.K.-S., Yao Z., Zhang J., Zhang X.,
RA Zhao G., Zhou J., Zhou Y., Nelson D., Lehrach H., Reinhardt R.,
RA Naylor S.L., Yang H., Olson M., Weinstock G., Gibbs R.A.;
RT "The DNA sequence, annotation and analysis of human chromosome 3.";
RL Nature 440:1194-1198(2006).
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 (JUL-2011) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Skin;
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 IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=22223895; DOI=10.1074/mcp.m111.015131;
RA Bienvenut W.V., Sumpton D., Martinez A., Lilla S., Espagne C., Meinnel T.,
RA Giglione C.;
RT "Comparative large-scale characterisation of plant vs. mammal proteins
RT reveals similar and idiosyncratic N-alpha acetylation features.";
RL Mol. Cell. Proteomics 11:M111.015131-M111.015131(2012).
RN [6]
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: Catalyzes the conversion of phosphatidic acid (PA) to CDP-
CC diacylglycerol (CDP-DAG), an essential intermediate in the synthesis of
CC phosphatidylglycerol, cardiolipin and phosphatidylinositol.
CC {ECO:0000250|UniProtKB:D3ZKT0}.
CC -!- CATALYTIC ACTIVITY:
CC Reaction=a 1,2-diacyl-sn-glycero-3-phosphate + CTP + H(+) = a CDP-1,2-
CC diacyl-sn-glycerol + diphosphate; Xref=Rhea:RHEA:16229,
CC ChEBI:CHEBI:15378, ChEBI:CHEBI:33019, ChEBI:CHEBI:37563,
CC ChEBI:CHEBI:58332, ChEBI:CHEBI:58608; EC=2.7.7.41;
CC Evidence={ECO:0000250|UniProtKB:D3ZKT0};
CC PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:16230;
CC Evidence={ECO:0000250|UniProtKB:D3ZKT0};
CC -!- COFACTOR:
CC Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
CC Evidence={ECO:0000250|UniProtKB:P53230};
CC -!- PATHWAY: Phospholipid metabolism; CDP-diacylglycerol biosynthesis; CDP-
CC diacylglycerol from sn-glycerol 3-phosphate: step 3/3.
CC {ECO:0000250|UniProtKB:D3ZKT0}.
CC -!- INTERACTION:
CC Q96BW9; P06744: GPI; NbExp=3; IntAct=EBI-13943422, EBI-2558394;
CC -!- SUBCELLULAR LOCATION: Mitochondrion inner membrane
CC {ECO:0000250|UniProtKB:D3ZKT0}; Peripheral membrane protein
CC {ECO:0000250|UniProtKB:D3ZKT0}; Matrix side
CC {ECO:0000250|UniProtKB:P53230}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q96BW9-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q96BW9-2; Sequence=VSP_053905, VSP_053906;
CC Name=3;
CC IsoId=Q96BW9-3; Sequence=VSP_055724, VSP_055725;
CC -!- SIMILARITY: Belongs to the TAM41 family. {ECO:0000305}.
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DR EMBL; AK295839; BAG58649.1; -; mRNA.
DR EMBL; AC090939; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC090958; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471055; EAW64113.1; -; Genomic_DNA.
DR EMBL; BC015088; AAH15088.1; -; mRNA.
DR CCDS; CCDS2607.1; -. [Q96BW9-2]
DR CCDS; CCDS68345.1; -. [Q96BW9-3]
DR RefSeq; NP_001271330.1; NM_001284401.1. [Q96BW9-3]
DR RefSeq; NP_001308223.1; NM_001321294.1.
DR RefSeq; NP_001308224.1; NM_001321295.1.
DR RefSeq; NP_620162.1; NM_138807.3. [Q96BW9-2]
DR RefSeq; XP_005264930.1; XM_005264873.3. [Q96BW9-1]
DR AlphaFoldDB; Q96BW9; -.
DR SMR; Q96BW9; -.
DR BioGRID; 126303; 50.
DR IntAct; Q96BW9; 24.
DR MINT; Q96BW9; -.
DR STRING; 9606.ENSP00000398596; -.
DR GlyGen; Q96BW9; 1 site, 1 O-linked glycan (1 site).
DR iPTMnet; Q96BW9; -.
DR PhosphoSitePlus; Q96BW9; -.
DR SwissPalm; Q96BW9; -.
DR BioMuta; TAMM41; -.
DR DMDM; 74731287; -.
DR EPD; Q96BW9; -.
DR jPOST; Q96BW9; -.
DR MassIVE; Q96BW9; -.
DR MaxQB; Q96BW9; -.
DR PaxDb; Q96BW9; -.
DR PeptideAtlas; Q96BW9; -.
DR PRIDE; Q96BW9; -.
DR ProteomicsDB; 4336; -.
DR ProteomicsDB; 76124; -. [Q96BW9-1]
DR ProteomicsDB; 8254; -.
DR Antibodypedia; 26127; 186 antibodies from 25 providers.
DR DNASU; 132001; -.
DR Ensembl; ENST00000273037.9; ENSP00000273037.5; ENSG00000144559.11. [Q96BW9-2]
DR Ensembl; ENST00000444133.6; ENSP00000388598.2; ENSG00000144559.11. [Q96BW9-1]
DR Ensembl; ENST00000455809.6; ENSP00000398596.1; ENSG00000144559.11. [Q96BW9-3]
DR GeneID; 132001; -.
DR KEGG; hsa:132001; -.
DR MANE-Select; ENST00000455809.6; ENSP00000398596.1; NM_001284401.2; NP_001271330.1. [Q96BW9-3]
DR UCSC; uc003bwh.4; human. [Q96BW9-1]
DR CTD; 132001; -.
DR DisGeNET; 132001; -.
DR GeneCards; TAMM41; -.
DR HGNC; HGNC:25187; TAMM41.
DR HPA; ENSG00000144559; Low tissue specificity.
DR MIM; 614948; gene.
DR neXtProt; NX_Q96BW9; -.
DR OpenTargets; ENSG00000144559; -.
DR PharmGKB; PA142672392; -.
DR VEuPathDB; HostDB:ENSG00000144559; -.
DR eggNOG; KOG2986; Eukaryota.
DR GeneTree; ENSGT00390000000616; -.
DR HOGENOM; CLU_030279_1_2_1; -.
DR InParanoid; Q96BW9; -.
DR OMA; HYSFLKF; -.
DR OrthoDB; 1145430at2759; -.
DR PhylomeDB; Q96BW9; -.
DR TreeFam; TF314503; -.
DR PathwayCommons; Q96BW9; -.
DR SignaLink; Q96BW9; -.
DR UniPathway; UPA00557; UER00614.
DR BioGRID-ORCS; 132001; 527 hits in 1094 CRISPR screens.
DR ChiTaRS; TAMM41; human.
DR GenomeRNAi; 132001; -.
DR Pharos; Q96BW9; Tbio.
DR PRO; PR:Q96BW9; -.
DR Proteomes; UP000005640; Chromosome 3.
DR RNAct; Q96BW9; protein.
DR Bgee; ENSG00000144559; Expressed in granulocyte and 105 other tissues.
DR ExpressionAtlas; Q96BW9; baseline and differential.
DR Genevisible; Q96BW9; HS.
DR GO; GO:0019898; C:extrinsic component of membrane; ISS:UniProtKB.
DR GO; GO:0031314; C:extrinsic component of mitochondrial inner membrane; ISS:UniProtKB.
DR GO; GO:0005743; C:mitochondrial inner membrane; ISS:UniProtKB.
DR GO; GO:0005739; C:mitochondrion; IBA:GO_Central.
DR GO; GO:0004605; F:phosphatidate cytidylyltransferase activity; ISS:UniProtKB.
DR GO; GO:0032049; P:cardiolipin biosynthetic process; ISS:UniProtKB.
DR GO; GO:0016024; P:CDP-diacylglycerol biosynthetic process; IBA:GO_Central.
DR InterPro; IPR015222; Tam41.
DR PANTHER; PTHR13619; PTHR13619; 1.
DR Pfam; PF09139; Tam41_Mmp37; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Lipid biosynthesis; Lipid metabolism; Magnesium;
KW Membrane; Mitochondrion; Mitochondrion inner membrane;
KW Nucleotidyltransferase; Phospholipid biosynthesis; Phospholipid metabolism;
KW Reference proteome; Transferase.
FT CHAIN 1..452
FT /note="Phosphatidate cytidylyltransferase, mitochondrial"
FT /id="PRO_0000248354"
FT VAR_SEQ 294..316
FT /note="SAIVRPSSIRQSTKGIFTAGKSF -> KKSVIYSSLKLHKMWKGWLRKTS
FT (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_053905"
FT VAR_SEQ 314..337
FT /note="KSFGNPCVTYLLTEWLPHSWLQCK -> LKKSVIYSSLKLHKMWKGWLRKTS
FT (in isoform 3)"
FT /evidence="ECO:0000305"
FT /id="VSP_055724"
FT VAR_SEQ 317..452
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_053906"
FT VAR_SEQ 338..452
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000305"
FT /id="VSP_055725"
FT VARIANT 116
FT /note="N -> S (in dbSNP:rs7641243)"
FT /id="VAR_027276"
FT VARIANT 179
FT /note="I -> V (in dbSNP:rs11551661)"
FT /id="VAR_053649"
SQ SEQUENCE 452 AA; 51067 MW; D711A42567390653 CRC64;
MALQTLQSSW VTFRKILSHF PEELSLAFVY GSGVYRQAGP SSDQKNAMLD FVFTVDDPVA
WHSKNLKKNW SHYSFLKVLG PKIITSIQNN YGAGVYYNSL IMCNGRLIKY GVISTNVLIE
DLLNWNNLYI AGRLQKPVKI ISVNEDVTLR SALDRNLKSA VTAAFLMLPE SFSEEDLFIE
IAGLSYSGDF RMVVGEDKTK VLNIVKPNIA HFRELYGSIL QENPQVVYKS QQGWLEIDKS
PEGQFTQLMT LPKTLQQQIN HIMDPPGKNR DVEETLFQVA HDPDCGDVVR LGLSAIVRPS
SIRQSTKGIF TAGKSFGNPC VTYLLTEWLP HSWLQCKALY LLGACEMLSF DGHKLGYCSK
VQTGITAAEP GGRTMSDHWQ CCWKLYCPSE FSETLPVCRV FPSYCFIYQS YRCIGLQKQQ
HLCSPSSSPS LRQLLPSVLV GYFCCYCHFS KW
