MDH1B_HUMAN
ID MDH1B_HUMAN Reviewed; 518 AA.
AC Q5I0G3; A8K8M1; Q53TK9; Q8IV51;
DT 29-APR-2008, integrated into UniProtKB/Swiss-Prot.
DT 15-FEB-2005, sequence version 1.
DT 03-AUG-2022, entry version 141.
DE RecName: Full=Putative malate dehydrogenase 1B;
DE EC=1.1.1.-;
GN Name=MDH1B;
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] (ISOFORMS 1 AND 2).
RC TISSUE=Testis;
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=15815621; DOI=10.1038/nature03466;
RA Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P.,
RA Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C.,
RA Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L.,
RA Du H., Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A.,
RA Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J.,
RA Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M.,
RA Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T.,
RA Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S.,
RA Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K.,
RA McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C.,
RA Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S.,
RA Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C.,
RA Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M.,
RA Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C.,
RA Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J.,
RA Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E.,
RA Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X.,
RA Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M.,
RA Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C.,
RA Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S.,
RA Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H.,
RA Wilson R.K.;
RT "Generation and annotation of the DNA sequences of human chromosomes 2 and
RT 4.";
RL Nature 434:724-731(2005).
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-2005) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 3).
RC TISSUE=Brain, and Testis;
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 VARIANT ILE-48.
RX PubMed=21248752; DOI=10.1038/nature09639;
RA Varela I., Tarpey P., Raine K., Huang D., Ong C.K., Stephens P., Davies H.,
RA Jones D., Lin M.L., Teague J., Bignell G., Butler A., Cho J.,
RA Dalgliesh G.L., Galappaththige D., Greenman C., Hardy C., Jia M.,
RA Latimer C., Lau K.W., Marshall J., McLaren S., Menzies A., Mudie L.,
RA Stebbings L., Largaespada D.A., Wessels L.F.A., Richard S., Kahnoski R.J.,
RA Anema J., Tuveson D.A., Perez-Mancera P.A., Mustonen V., Fischer A.,
RA Adams D.J., Rust A., Chan-On W., Subimerb C., Dykema K., Furge K.,
RA Campbell P.J., Teh B.T., Stratton M.R., Futreal P.A.;
RT "Exome sequencing identifies frequent mutation of the SWI/SNF complex gene
RT PBRM1 in renal carcinoma.";
RL Nature 469:539-542(2011).
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q5I0G3-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q5I0G3-2; Sequence=VSP_033201;
CC Name=3;
CC IsoId=Q5I0G3-3; Sequence=VSP_033199, VSP_033200;
CC -!- SIMILARITY: Belongs to the LDH/MDH superfamily. MDH type 2 family.
CC {ECO:0000305}.
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DR EMBL; AK292378; BAF85067.1; -; mRNA.
DR EMBL; AK292386; BAF85075.1; -; mRNA.
DR EMBL; AC008269; AAX93274.1; -; Genomic_DNA.
DR EMBL; CH471063; EAW70392.1; -; Genomic_DNA.
DR EMBL; CH471063; EAW70393.1; -; Genomic_DNA.
DR EMBL; BC033509; AAH33509.1; -; mRNA.
DR EMBL; BC088356; AAH88356.1; -; mRNA.
DR CCDS; CCDS33365.1; -. [Q5I0G3-1]
DR CCDS; CCDS63102.1; -. [Q5I0G3-2]
DR RefSeq; NP_001034934.1; NM_001039845.2. [Q5I0G3-1]
DR RefSeq; NP_001269869.1; NM_001282940.1. [Q5I0G3-2]
DR AlphaFoldDB; Q5I0G3; -.
DR SMR; Q5I0G3; -.
DR STRING; 9606.ENSP00000363533; -.
DR iPTMnet; Q5I0G3; -.
DR PhosphoSitePlus; Q5I0G3; -.
DR BioMuta; MDH1B; -.
DR DMDM; 74736109; -.
DR MassIVE; Q5I0G3; -.
DR PaxDb; Q5I0G3; -.
DR PeptideAtlas; Q5I0G3; -.
DR PRIDE; Q5I0G3; -.
DR ProteomicsDB; 62966; -. [Q5I0G3-1]
DR ProteomicsDB; 62967; -. [Q5I0G3-2]
DR ProteomicsDB; 62968; -. [Q5I0G3-3]
DR Antibodypedia; 34182; 93 antibodies from 19 providers.
DR DNASU; 130752; -.
DR Ensembl; ENST00000374412.8; ENSP00000363533.3; ENSG00000138400.13. [Q5I0G3-1]
DR Ensembl; ENST00000432911.5; ENSP00000392464.1; ENSG00000138400.13. [Q5I0G3-3]
DR Ensembl; ENST00000454776.6; ENSP00000389916.2; ENSG00000138400.13. [Q5I0G3-2]
DR GeneID; 130752; -.
DR KEGG; hsa:130752; -.
DR MANE-Select; ENST00000374412.8; ENSP00000363533.3; NM_001039845.3; NP_001034934.1.
DR UCSC; uc002vbs.5; human. [Q5I0G3-1]
DR CTD; 130752; -.
DR GeneCards; MDH1B; -.
DR HGNC; HGNC:17836; MDH1B.
DR HPA; ENSG00000138400; Tissue enhanced (fallopian tube, testis).
DR neXtProt; NX_Q5I0G3; -.
DR OpenTargets; ENSG00000138400; -.
DR PharmGKB; PA30715; -.
DR VEuPathDB; HostDB:ENSG00000138400; -.
DR eggNOG; KOG1496; Eukaryota.
DR GeneTree; ENSGT00530000063410; -.
DR HOGENOM; CLU_1010232_0_0_1; -.
DR InParanoid; Q5I0G3; -.
DR OMA; QHPDVWE; -.
DR OrthoDB; 588276at2759; -.
DR PhylomeDB; Q5I0G3; -.
DR TreeFam; TF329007; -.
DR PathwayCommons; Q5I0G3; -.
DR BioGRID-ORCS; 130752; 10 hits in 1066 CRISPR screens.
DR GenomeRNAi; 130752; -.
DR Pharos; Q5I0G3; Tdark.
DR PRO; PR:Q5I0G3; -.
DR Proteomes; UP000005640; Chromosome 2.
DR RNAct; Q5I0G3; protein.
DR Bgee; ENSG00000138400; Expressed in bronchial epithelial cell and 120 other tissues.
DR ExpressionAtlas; Q5I0G3; baseline and differential.
DR Genevisible; Q5I0G3; HS.
DR GO; GO:0030060; F:L-malate dehydrogenase activity; IBA:GO_Central.
DR GO; GO:0006108; P:malate metabolic process; IBA:GO_Central.
DR GO; GO:0006734; P:NADH metabolic process; IBA:GO_Central.
DR GO; GO:0006107; P:oxaloacetate metabolic process; IBA:GO_Central.
DR GO; GO:0006099; P:tricarboxylic acid cycle; IBA:GO_Central.
DR Gene3D; 3.90.110.10; -; 1.
DR InterPro; IPR015955; Lactate_DH/Glyco_Ohase_4_C.
DR InterPro; IPR010945; Malate_DH_type2.
DR InterPro; IPR036291; NAD(P)-bd_dom_sf.
DR PANTHER; PTHR23382; PTHR23382; 1.
DR SUPFAM; SSF51735; SSF51735; 1.
DR SUPFAM; SSF56327; SSF56327; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; NAD; Oxidoreductase; Reference proteome;
KW Tricarboxylic acid cycle.
FT CHAIN 1..518
FT /note="Putative malate dehydrogenase 1B"
FT /id="PRO_0000331435"
FT VAR_SEQ 138..350
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_033199"
FT VAR_SEQ 470..518
FT /note="GHKDLVPDEEKNLAMSDAAEFPNQIPQTTFEKPQSLEFLNEFEGKTVES ->
FT DTPRINTLHPSIQSSWHSVLTITIRKR (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_033200"
FT VAR_SEQ 487
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_033201"
FT VARIANT 48
FT /note="L -> I (found in a renal cell carcinoma sample;
FT somatic mutation)"
FT /evidence="ECO:0000269|PubMed:21248752"
FT /id="VAR_064729"
FT VARIANT 510
FT /note="E -> D (in dbSNP:rs2287631)"
FT /id="VAR_042861"
FT VARIANT 515
FT /note="T -> A (in dbSNP:rs2287632)"
FT /id="VAR_042862"
FT CONFLICT Q5I0G3-3:261
FT /note="I -> T (in Ref. 4; AAH33509)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 518 AA; 58651 MW; 4C64F26805E95CDD CRC64;
MAKFVIAGRA DCPYYAKTEL VADYLQKNLP DFRIHKITQR PEVWEDWLKD VCEKNKWSHK
NSPIIWRELL DRGGKGLLLG GYNEFLEHAQ LYYDVTSSMT TELMMVIAQE NLGAHIEKEQ
EEEALKTCIN PLQVWITSAS APACYNLIPI LTSGEVFGMH TEISITLFDN KQAEEHLKSL
VVETQDLASP VLRSVSICTK VEEAFRQAHV IVVLDDSTNK EVFTLEDCLR SRVPLCRLYG
YLIEKNAHES VRVIVGGRTF VNLKTVLLMR YAPRIAHNII AVALGVEGEA KAILARKLKT
APSYIKDVII WGNISGNNYV DLRKTRVYRY ESAIWGPLHY SRPVLNLIFD SEWVKREFVA
ILKNLTTTGR QFGGILAAHS IATTLKYWYH GSPPGEIVSL GILSEGQFGI PKGIVFSMPV
KFENGTWVVL TDLKDVEISE QIMTRMTSDL IQEKLVALGD KIHFQPYQSG HKDLVPDEEK
NLAMSDAAEF PNQIPQTTFE KPQSLEFLNE FEGKTVES
