LOCUS NP_001137469 801 aa linear PRI 12-DEC-2023
DEFINITION 2-oxoglutarate dehydrogenase-like, mitochondrial isoform c [Homo
sapiens].
ACCESSION NP_001137469
VERSION NP_001137469.1
DBSOURCE REFSEQ: accession NM_001143997.2
KEYWORDS RefSeq.
SOURCE Homo sapiens (human)
ORGANISM Homo sapiens
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
REFERENCE 1 (residues 1 to 801)
AUTHORS Lin SJ, Vona B, Lau T, Huang K, Zaki MS, Aldeen HS, Karimiani EG,
Rocca C, Noureldeen MM, Saad AK, Petree C, Bartolomaeus T, Abou
Jamra R, Zifarelli G, Gotkhindikar A, Wentzensen IM, Liao M, Cork
EE, Varshney P, Hashemi N, Mohammadi MH, Rad A, Neira J, Toosi MB,
Knopp C, Kurth I, Challman TD, Smith R, Abdalla A, Haaf T, Suri M,
Joshi M, Chung WK, Moreno-De-Luca A, Houlden H, Maroofian R and
Varshney GK.
TITLE Evaluating the association of biallelic OGDHL variants with
significant phenotypic heterogeneity
JOURNAL Genome Med 15 (1), 102 (2023)
PUBMED 38031187
REMARK GeneRIF: Evaluating the association of biallelic OGDHL variants
with significant phenotypic heterogeneity.
Publication Status: Online-Only
REFERENCE 2 (residues 1 to 801)
AUTHORS Dai W, Li Y, Sun W, Ji M, Bao R, Chen J, Xu S, Dai Y, Chen Y, Liu
W, Ge C, Sun W, Mo W, Guo C and Xu X.
TITLE Silencing of OGDHL promotes liver cancer metastasis by enhancing
hypoxia inducible factor 1 alpha protein stability
JOURNAL Cancer Sci 114 (4), 1309-1323 (2023)
PUBMED 36000493
REMARK GeneRIF: Silencing of OGDHL promotes liver cancer metastasis by
enhancing hypoxia inducible factor 1 alpha protein stability.
REFERENCE 3 (residues 1 to 801)
AUTHORS Yap ZY, Efthymiou S, Seiffert S, Vargas Parra K, Lee S, Nasca A,
Maroofian R, Schrauwen I, Pendziwiat M, Jung S, Bhoj E, Striano P,
Mankad K, Vona B, Cuddapah S, Wagner A, Alvi JR, Davoudi-Dehaghani
E, Fallah MS, Gannavarapu S, Lamperti C, Legati A, Murtaza BN,
Nadeem MS, Rehman MU, Saeidi K, Salpietro V, von Spiczak S,
Sandoval A, Zeinali S, Zeviani M, Reich A, Jang C, Helbig I,
Barakat TS, Ghezzi D, Leal SM, Weber Y, Houlden H and Yoon WH.
CONSRTM SYNaPS Study Group; University of Washington Center for Mendelian
Genomics
TITLE Bi-allelic variants in OGDHL cause a neurodevelopmental spectrum
disease featuring epilepsy, hearing loss, visual impairment, and
ataxia
JOURNAL Am J Hum Genet 108 (12), 2368-2384 (2021)
PUBMED 34800363
REMARK GeneRIF: Bi-allelic variants in OGDHL cause a neurodevelopmental
spectrum disease featuring epilepsy, hearing loss, visual
impairment, and ataxia.
REFERENCE 4 (residues 1 to 801)
AUTHORS Mao M, Huang RZ, Zheng J, Liang HQ, Huang WH, Liu J and Li JH.
TITLE OGDHL closely associates with tumor microenvironment and can serve
as a prognostic biomarker for papillary thyroid cancer
JOURNAL Cancer Med 10 (2), 728-736 (2021)
PUBMED 33405394
REMARK GeneRIF: OGDHL closely associates with tumor microenvironment and
can serve as a prognostic biomarker for papillary thyroid cancer.
REFERENCE 5 (residues 1 to 801)
AUTHORS Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S,
Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A,
Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van
Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S,
Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
MA.
TITLE A reference map of the human binary protein interactome
JOURNAL Nature 580 (7803), 402-408 (2020)
PUBMED 32296183
REFERENCE 6 (residues 1 to 801)
AUTHORS Khalaj-Kondori M, Hosseinnejad M, Hosseinzadeh A, Behroz Sharif S
and Hashemzadeh S.
TITLE Aberrant hypermethylation of OGDHL gene promoter in sporadic
colorectal cancer
JOURNAL Curr Probl Cancer 44 (1), 100471 (2020)
PUBMED 30904169
REMARK GeneRIF: Aberrant hypermethylation of OGDHL gene promoter in
sporadic colorectal cancer.
REFERENCE 7 (residues 1 to 801)
AUTHORS Sen T, Sen N, Noordhuis MG, Ravi R, Wu TC, Ha PK, Sidransky D and
Hoque MO.
TITLE OGDHL is a modifier of AKT-dependent signaling and NF-kappaB
function
JOURNAL PLoS One 7 (11), e48770 (2012)
PUBMED 23152800
REMARK GeneRIF: inactivation of OGDHL can contribute to cervical
tumorigenesis via activation of the AKT signaling pathway and thus
support it as an important anti-proliferative gene in cervical
cancer.
REFERENCE 8 (residues 1 to 801)
AUTHORS Yoshida T, Kato K, Yokoi K, Oguri M, Watanabe S, Metoki N, Yoshida
H, Satoh K, Aoyagi Y, Nozawa Y and Yamada Y.
TITLE Association of gene polymorphisms with chronic kidney disease in
Japanese individuals
JOURNAL Int J Mol Med 24 (4), 539-547 (2009)
PUBMED 19724895
REMARK GeneRIF: Observational study of gene-disease association. (HuGE
Navigator)
REFERENCE 9 (residues 1 to 801)
AUTHORS Bunik V, Kaehne T, Degtyarev D, Shcherbakova T and Reiser G.
TITLE Novel isoenzyme of 2-oxoglutarate dehydrogenase is identified in
brain, but not in heart
JOURNAL FEBS J 275 (20), 4990-5006 (2008)
PUBMED 18783430
REFERENCE 10 (residues 1 to 801)
AUTHORS Bunik VI and Degtyarev D.
TITLE Structure-function relationships in the 2-oxo acid dehydrogenase
family: substrate-specific signatures and functional predictions
for the 2-oxoglutarate dehydrogenase-like proteins
JOURNAL Proteins 71 (2), 874-890 (2008)
PUBMED 18004749
COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from AK303729.1, DA416844.1,
BP209348.1 and BQ549806.1.
Summary: The protein encoded by this gene is similar to
oxoglutarate dehydrogenase (OGDH) of the OGDH complex, which
degrades glucose and glutamate. This gene encodes several isoforms,
including some that appear to localize to mitochondria. The encoded
protein down-regulates the AKT signaling cascade and can suppress
the growth of cervical cancer cells. [provided by RefSeq, Dec
2016].
Transcript Variant: This variant (3) lacks two alternate in-frame
exons in the 5' coding region and uses a downstream start codon,
compared to variant 1. Isoform c has a shorter N-terminus, compared
to isoform a. Variants 3, 6, and 7 all encode the same isoform (c).
Publication Note: This RefSeq record includes a subset of the
publications that are available for this gene. Please see the Gene
record to access additional publications.
##Evidence-Data-START##
Transcript exon combination :: AK303729.1, SRR11853565.3411.1
[ECO:0000332]
RNAseq introns :: mixed sample support SAMEA1965299,
SAMEA1966682 [ECO:0006172]
##Evidence-Data-END##
##RefSeq-Attributes-START##
gene product(s) localized to mito. :: reported by MitoCarta
##RefSeq-Attributes-END##
FEATURES Location/Qualifiers
source 1..801
/organism="Homo sapiens"
/db_xref="taxon:9606"
/chromosome="10"
/map="10q11.23"
Protein 1..801
/product="2-oxoglutarate dehydrogenase-like, mitochondrial
isoform c"
/EC_number="1.2.4.2"
/note="2-oxoglutarate dehydrogenase-like, mitochondrial;
oxoglutarate dehydrogenase like; OGDC-E1-like;
alpha-ketoglutarate dehydrogenase-like; 2-oxoglutarate
dehydrogenase complex component E1-like"
/calculated_mol_wt=91101
Region 1..792
/region_name="sucA"
/note="2-oxoglutarate dehydrogenase E1 component;
Reviewed; PRK09404"
/db_xref="CDD:236499"
CDS 1..801
/gene="OGDHL"
/gene_synonym="YOBELN"
/coded_by="NM_001143997.2:338..2743"
/note="isoform c is encoded by transcript variant 3"
/db_xref="CCDS:CCDS44391.1"
/db_xref="GeneID:55753"
/db_xref="HGNC:HGNC:25590"
/db_xref="MIM:617513"
ORIGIN
1 mfindveqcq wirqkfetpg vmqfsseekr tllarlvrsm rfedflarkw ssekrfgleg
61 cevmipalkt iidkssemgi envilgmphr grlnvlanvi rkdleqifcq fdpkleaade
121 gsgdvkyhlg myherinrvt nrnitlslva npshleavdp vvqgktkaeq fyrgdaqgkk
181 vmsilvhgda afagqgvvye tfhlsdlpsy ttngtvhvvv nnqigfttdp rmarsspypt
241 dvarvvnapi fhvnaddpea viyvcsvaae wrntfnkdvv vdlvcyrrrg hnemdepmft
301 qplmykqihr qvpvlkkyad kliaegtvtl qefeeeiaky driceeaygr skdkkilhik
361 hwldspwpgf fnvdgepksm tcpatgiped mlthigsvas svpledfkih tglsrilrgr
421 admtknrtvd walaeymafg sllkegihvr lsgqdvergt fshrhhvlhd qevdrrtcvp
481 mnhlwpdqap ytvcnsslse ygvlgfelgy amaspnalvl weaqfgdfhn taqciidqfi
541 stgqakwvrh ngivlllphg megmgpehss arperflqms nddsdaypaf tkdfevsqly
601 dcnwivvncs tpanyfhvlr rqillpfrkp liiftpksll rhpeakssfd qmvsgtsfqr
661 vipedgaaar apeqvqrlif ctgkvyydlv kerssqdlee kvaitrleqi spfpfdlikq
721 eaekypgael awcqeehknm gyydyisprf mtilrrarpi wyvgrdpaaa patgnrnthl
781 vslkkfldta fnlqafegkt f
//
