LDH6B_HUMAN
ID LDH6B_HUMAN Reviewed; 381 AA.
AC Q9BYZ2; Q6DUY4; Q96LI2;
DT 16-NOV-2001, integrated into UniProtKB/Swiss-Prot.
DT 17-OCT-2006, sequence version 3.
DT 03-AUG-2022, entry version 172.
DE RecName: Full=L-lactate dehydrogenase A-like 6B;
DE EC=1.1.1.27;
GN Name=LDHAL6B; Synonyms=LDHAL6, LDHL;
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].
RC TISSUE=Testis;
RA Sha J.H., Li J.M., Zhou Z.M.;
RT "A novel intronless human testis lactate dehydrogenase gene from adult
RT testis.";
RL Submitted (OCT-2000) to the EMBL/GenBank/DDBJ databases.
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA].
RA Tang W.W.;
RL Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANTS MET-14; LEU-30 AND
RP THR-326.
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 [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANTS MET-14; LEU-30 AND
RP THR-326.
RC TISSUE=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).
CC -!- CATALYTIC ACTIVITY:
CC Reaction=(S)-lactate + NAD(+) = H(+) + NADH + pyruvate;
CC Xref=Rhea:RHEA:23444, ChEBI:CHEBI:15361, ChEBI:CHEBI:15378,
CC ChEBI:CHEBI:16651, ChEBI:CHEBI:57540, ChEBI:CHEBI:57945; EC=1.1.1.27;
CC -!- PATHWAY: Fermentation; pyruvate fermentation to lactate; (S)-lactate
CC from pyruvate: step 1/1.
CC -!- INTERACTION:
CC Q9BYZ2; P02649: APOE; NbExp=3; IntAct=EBI-1108377, EBI-1222467;
CC Q9BYZ2; P05067: APP; NbExp=3; IntAct=EBI-1108377, EBI-77613;
CC Q9BYZ2; P05067-2: APP; NbExp=3; IntAct=EBI-1108377, EBI-17264467;
CC Q9BYZ2; P54253: ATXN1; NbExp=6; IntAct=EBI-1108377, EBI-930964;
CC Q9BYZ2; P54252: ATXN3; NbExp=3; IntAct=EBI-1108377, EBI-946046;
CC Q9BYZ2; Q14203-5: DCTN1; NbExp=3; IntAct=EBI-1108377, EBI-25840379;
CC Q9BYZ2; Q14103: HNRNPD; NbExp=2; IntAct=EBI-1108377, EBI-299674;
CC Q9BYZ2; P42858: HTT; NbExp=18; IntAct=EBI-1108377, EBI-466029;
CC Q9BYZ2; Q92597: NDRG1; NbExp=3; IntAct=EBI-1108377, EBI-716486;
CC Q9BYZ2; Q96CV9: OPTN; NbExp=3; IntAct=EBI-1108377, EBI-748974;
CC Q9BYZ2; Q99497: PARK7; NbExp=3; IntAct=EBI-1108377, EBI-1164361;
CC Q9BYZ2; Q9BXM7: PINK1; NbExp=3; IntAct=EBI-1108377, EBI-2846068;
CC Q9BYZ2; D3DTS7: PMP22; NbExp=3; IntAct=EBI-1108377, EBI-25882629;
CC Q9BYZ2; O60260-5: PRKN; NbExp=6; IntAct=EBI-1108377, EBI-21251460;
CC Q9BYZ2; P49768-2: PSEN1; NbExp=6; IntAct=EBI-1108377, EBI-11047108;
CC Q9BYZ2; P37840: SNCA; NbExp=3; IntAct=EBI-1108377, EBI-985879;
CC Q9BYZ2; P00441: SOD1; NbExp=3; IntAct=EBI-1108377, EBI-990792;
CC Q9BYZ2; Q13148: TARDBP; NbExp=6; IntAct=EBI-1108377, EBI-372899;
CC Q9BYZ2; Q9NUW8: TDP1; NbExp=3; IntAct=EBI-1108377, EBI-2902553;
CC Q9BYZ2; P09936: UCHL1; NbExp=3; IntAct=EBI-1108377, EBI-714860;
CC -!- TISSUE SPECIFICITY: Testis specific.
CC -!- DEVELOPMENTAL STAGE: Higher expression level in adult testis as
CC compared to 6-week-old fetal testis.
CC -!- SIMILARITY: Belongs to the LDH/MDH superfamily. LDH family.
CC {ECO:0000305}.
CC -!- CAUTION: It is uncertain whether Met-1 or Met-50 is the initiator.
CC {ECO:0000305}.
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DR EMBL; AY009108; AAG49399.1; -; mRNA.
DR EMBL; AY642121; AAT65080.1; -; mRNA.
DR EMBL; AK058192; BAB71710.1; -; mRNA.
DR EMBL; BC022034; AAH22034.1; -; mRNA.
DR CCDS; CCDS10171.1; -.
DR RefSeq; NP_149972.1; NM_033195.2.
DR AlphaFoldDB; Q9BYZ2; -.
DR SMR; Q9BYZ2; -.
DR BioGRID; 124950; 49.
DR ComplexPortal; CPX-6622; L-lactate dehydrogenase complex, LDHAL6B variant.
DR IntAct; Q9BYZ2; 28.
DR MINT; Q9BYZ2; -.
DR STRING; 9606.ENSP00000302393; -.
DR DrugBank; DB00157; NADH.
DR iPTMnet; Q9BYZ2; -.
DR PhosphoSitePlus; Q9BYZ2; -.
DR BioMuta; LDHAL6B; -.
DR DMDM; 116242616; -.
DR EPD; Q9BYZ2; -.
DR jPOST; Q9BYZ2; -.
DR MassIVE; Q9BYZ2; -.
DR MaxQB; Q9BYZ2; -.
DR PaxDb; Q9BYZ2; -.
DR PeptideAtlas; Q9BYZ2; -.
DR PRIDE; Q9BYZ2; -.
DR ProteomicsDB; 79743; -.
DR Antibodypedia; 25391; 139 antibodies from 24 providers.
DR DNASU; 92483; -.
DR Ensembl; ENST00000307144.6; ENSP00000302393.4; ENSG00000171989.6.
DR GeneID; 92483; -.
DR KEGG; hsa:92483; -.
DR MANE-Select; ENST00000307144.6; ENSP00000302393.4; NM_033195.3; NP_149972.1.
DR UCSC; uc002agb.5; human.
DR CTD; 92483; -.
DR DisGeNET; 92483; -.
DR GeneCards; LDHAL6B; -.
DR HGNC; HGNC:21481; LDHAL6B.
DR HPA; ENSG00000171989; Tissue enriched (testis).
DR MalaCards; LDHAL6B; -.
DR neXtProt; NX_Q9BYZ2; -.
DR OpenTargets; ENSG00000171989; -.
DR PharmGKB; PA134943157; -.
DR VEuPathDB; HostDB:ENSG00000171989; -.
DR eggNOG; KOG1495; Eukaryota.
DR GeneTree; ENSGT00940000163242; -.
DR HOGENOM; CLU_045401_0_2_1; -.
DR InParanoid; Q9BYZ2; -.
DR OMA; RVIGNGC; -.
DR OrthoDB; 1204514at2759; -.
DR PhylomeDB; Q9BYZ2; -.
DR TreeFam; TF314963; -.
DR PathwayCommons; Q9BYZ2; -.
DR Reactome; R-HSA-70268; Pyruvate metabolism.
DR SignaLink; Q9BYZ2; -.
DR UniPathway; UPA00554; UER00611.
DR BioGRID-ORCS; 92483; 14 hits in 1063 CRISPR screens.
DR GenomeRNAi; 92483; -.
DR Pharos; Q9BYZ2; Tbio.
DR PRO; PR:Q9BYZ2; -.
DR Proteomes; UP000005640; Chromosome 15.
DR RNAct; Q9BYZ2; protein.
DR Bgee; ENSG00000171989; Expressed in right testis and 69 other tissues.
DR ExpressionAtlas; Q9BYZ2; baseline and differential.
DR Genevisible; Q9BYZ2; HS.
DR GO; GO:0005737; C:cytoplasm; IDA:ComplexPortal.
DR GO; GO:0005759; C:mitochondrial matrix; TAS:Reactome.
DR GO; GO:0005634; C:nucleus; HDA:UniProtKB.
DR GO; GO:1990204; C:oxidoreductase complex; IC:ComplexPortal.
DR GO; GO:0004459; F:L-lactate dehydrogenase activity; IBA:GO_Central.
DR GO; GO:0006089; P:lactate metabolic process; IDA:ComplexPortal.
DR GO; GO:0006090; P:pyruvate metabolic process; IDA:ComplexPortal.
DR Gene3D; 3.90.110.10; -; 1.
DR HAMAP; MF_00488; Lactate_dehydrog; 1.
DR InterPro; IPR001557; L-lactate/malate_DH.
DR InterPro; IPR011304; L-lactate_DH.
DR InterPro; IPR018177; L-lactate_DH_AS.
DR InterPro; IPR022383; Lactate/malate_DH_C.
DR InterPro; IPR001236; Lactate/malate_DH_N.
DR InterPro; IPR015955; Lactate_DH/Glyco_Ohase_4_C.
DR InterPro; IPR036291; NAD(P)-bd_dom_sf.
DR Pfam; PF02866; Ldh_1_C; 1.
DR Pfam; PF00056; Ldh_1_N; 1.
DR PIRSF; PIRSF000102; Lac_mal_DH; 1.
DR PRINTS; PR00086; LLDHDRGNASE.
DR SUPFAM; SSF51735; SSF51735; 1.
DR SUPFAM; SSF56327; SSF56327; 1.
DR TIGRFAMs; TIGR01771; L-LDH-NAD; 1.
DR PROSITE; PS00064; L_LDH; 1.
PE 1: Evidence at protein level;
KW NAD; Oxidoreductase; Reference proteome.
FT CHAIN 1..381
FT /note="L-lactate dehydrogenase A-like 6B"
FT /id="PRO_0000168458"
FT ACT_SITE 242
FT /note="Proton acceptor"
FT /evidence="ECO:0000250"
FT BINDING 101..106
FT /ligand="NAD(+)"
FT /ligand_id="ChEBI:CHEBI:57540"
FT /evidence="ECO:0000250"
FT BINDING 148
FT /ligand="NAD(+)"
FT /ligand_id="ChEBI:CHEBI:57540"
FT /evidence="ECO:0000250"
FT BINDING 155
FT /ligand="substrate"
FT /evidence="ECO:0000250"
FT BINDING 187
FT /ligand="NAD(+)"
FT /ligand_id="ChEBI:CHEBI:57540"
FT /evidence="ECO:0000250"
FT BINDING 187
FT /ligand="substrate"
FT /evidence="ECO:0000250"
FT BINDING 218
FT /ligand="substrate"
FT /evidence="ECO:0000250"
FT BINDING 297
FT /ligand="substrate"
FT /evidence="ECO:0000250"
FT VARIANT 14
FT /note="V -> M (in dbSNP:rs3809530)"
FT /evidence="ECO:0000269|PubMed:14702039,
FT ECO:0000269|PubMed:15489334"
FT /id="VAR_027936"
FT VARIANT 30
FT /note="P -> L (in dbSNP:rs3809529)"
FT /evidence="ECO:0000269|PubMed:14702039,
FT ECO:0000269|PubMed:15489334"
FT /id="VAR_027937"
FT VARIANT 259
FT /note="P -> S (in dbSNP:rs35212259)"
FT /id="VAR_049757"
FT VARIANT 326
FT /note="I -> T (in dbSNP:rs3825937)"
FT /evidence="ECO:0000269|PubMed:14702039,
FT ECO:0000269|PubMed:15489334"
FT /id="VAR_027938"
SQ SEQUENCE 381 AA; 41943 MW; F2B2D27E3ADE8A1D CRC64;
MSWTVPVVRA SQRVSSVGAN FLCLGMALCP RQATRIPLNG TWLFTPVSKM ATVKSELIER
FTSEKPVHHS KVSIIGTGSV GMACAISILL KGLSDELALV DLDEDKLKGE TMDLQHGSPF
TKMPNIVCSK DYFVTANSNL VIITAGARQE KGETRLNLVQ RNVAIFKLMI SSIVQYSPHC
KLIIVSNPVD ILTYVAWKLS AFPKNRIIGS GCNLDTARFR FLIGQKLGIH SESCHGWILG
EHGDSSVPVW SGVNIAGVPL KDLNSDIGTD KDPEQWKNVH KEVTATAYEI IKMKGYTSWA
IGLSVADLTE SILKNLRRIH PVSTIIKGLY GIDEEVFLSI PCILGENGIT NLIKIKLTPE
EEAHLKKSAK TLWEIQNKLK L
