NDUF8_HUMAN
ID NDUF8_HUMAN Reviewed; 74 AA.
AC A1L188;
DT 11-SEP-2007, integrated into UniProtKB/Swiss-Prot.
DT 20-FEB-2007, sequence version 1.
DT 03-AUG-2022, entry version 93.
DE RecName: Full=NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 8 {ECO:0000312|HGNC:HGNC:33551};
GN Name=NDUFAF8 {ECO:0000312|HGNC:HGNC:33551};
GN Synonyms=C17orf89 {ECO:0000312|HGNC:HGNC:33551};
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 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 (DEC-2006) to the EMBL/GenBank/DDBJ databases.
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
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 [3]
RP FUNCTION, SUBCELLULAR LOCATION, AND INTERACTION WITH NDUFAF5.
RX PubMed=27499296; DOI=10.1016/j.molcel.2016.06.033;
RA Floyd B.J., Wilkerson E.M., Veling M.T., Minogue C.E., Xia C., Beebe E.T.,
RA Wrobel R.L., Cho H., Kremer L.S., Alston C.L., Gromek K.A., Dolan B.K.,
RA Ulbrich A., Stefely J.A., Bohl S.L., Werner K.M., Jochem A.,
RA Westphall M.S., Rensvold J.W., Taylor R.W., Prokisch H., Kim J.J.,
RA Coon J.J., Pagliarini D.J.;
RT "Mitochondrial protein interaction mapping identifies regulators of
RT respiratory chain function.";
RL Mol. Cell 63:621-632(2016).
RN [4]
RP INVOLVEMENT IN MC1DN34, AND VARIANT MC1DN34 LEU-55.
RX PubMed=31866046; DOI=10.1016/j.ajhg.2019.12.001;
RA Alston C.L., Veling M.T., Heidler J., Taylor L.S., Alaimo J.T., Sung A.Y.,
RA He L., Hopton S., Broomfield A., Pavaine J., Diaz J., Leon E., Wolf P.,
RA McFarland R., Prokisch H., Wortmann S.B., Bonnen P.E., Wittig I.,
RA Pagliarini D.J., Taylor R.W.;
RT "Pathogenic bi-allelic mutations in NDUFAF8 cause Leigh syndrome with an
RT isolated complex I deficiency.";
RL Am. J. Hum. Genet. 106:92-101(2020).
CC -!- FUNCTION: Involved in the assembly of mitochondrial NADH:ubiquinone
CC oxidoreductase complex (complex I, MT-ND1) (PubMed:27499296). Required
CC to stabilize NDUFAF5 (PubMed:27499296). {ECO:0000269|PubMed:27499296}.
CC -!- SUBUNIT: Interacts with NDUFAF5. {ECO:0000269|PubMed:27499296}.
CC -!- INTERACTION:
CC A1L188; Q5TEU4: NDUFAF5; NbExp=9; IntAct=EBI-20593474, EBI-10762958;
CC -!- SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:27499296}.
CC -!- DISEASE: Mitochondrial complex I deficiency, nuclear type 34 (MC1DN34)
CC [MIM:618776]: A form of mitochondrial complex I deficiency, the most
CC common biochemical signature of mitochondrial disorders, a group of
CC highly heterogeneous conditions characterized by defective oxidative
CC phosphorylation, which collectively affects 1 in 5-10000 live births.
CC Clinical disorders have variable severity, ranging from lethal neonatal
CC disease to adult-onset neurodegenerative disorders. Phenotypes include
CC macrocephaly with progressive leukodystrophy, non-specific
CC encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh
CC syndrome, Leber hereditary optic neuropathy, and some forms of
CC Parkinson disease. MC1DN34 transmission pattern is consistent with
CC autosomal recessive inheritance. {ECO:0000269|PubMed:31866046}.
CC Note=The disease is caused by variants affecting the gene represented
CC in this entry.
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DR EMBL; CH471099; EAW89640.1; -; Genomic_DNA.
DR EMBL; BC127837; AAI27838.1; -; mRNA.
DR CCDS; CCDS45809.1; -.
DR RefSeq; NP_001079990.1; NM_001086521.1.
DR AlphaFoldDB; A1L188; -.
DR SMR; A1L188; -.
DR BioGRID; 129780; 40.
DR IntAct; A1L188; 25.
DR MINT; A1L188; -.
DR STRING; 9606.ENSP00000400184; -.
DR GlyGen; A1L188; 1 site, 1 O-linked glycan (1 site).
DR iPTMnet; A1L188; -.
DR PhosphoSitePlus; A1L188; -.
DR BioMuta; NDUFAF8; -.
DR EPD; A1L188; -.
DR MassIVE; A1L188; -.
DR MaxQB; A1L188; -.
DR PaxDb; A1L188; -.
DR PeptideAtlas; A1L188; -.
DR PRIDE; A1L188; -.
DR ProteomicsDB; 136; -.
DR Antibodypedia; 66310; 11 antibodies from 7 providers.
DR DNASU; 284184; -.
DR Ensembl; ENST00000431388.3; ENSP00000400184.2; ENSG00000224877.4.
DR GeneID; 284184; -.
DR KEGG; hsa:284184; -.
DR MANE-Select; ENST00000431388.3; ENSP00000400184.2; NM_001086521.2; NP_001079990.1.
DR UCSC; uc002jzx.3; human.
DR CTD; 284184; -.
DR DisGeNET; 284184; -.
DR GeneCards; NDUFAF8; -.
DR HGNC; HGNC:33551; NDUFAF8.
DR HPA; ENSG00000224877; Tissue enhanced (brain).
DR MalaCards; NDUFAF8; -.
DR MIM; 618461; gene.
DR MIM; 618776; phenotype.
DR neXtProt; NX_A1L188; -.
DR OpenTargets; ENSG00000224877; -.
DR Orphanet; 2609; Isolated complex I deficiency.
DR PharmGKB; PA162378532; -.
DR VEuPathDB; HostDB:ENSG00000224877; -.
DR eggNOG; ENOG502SBX9; Eukaryota.
DR GeneTree; ENSGT00520000061927; -.
DR HOGENOM; CLU_188562_0_0_1; -.
DR InParanoid; A1L188; -.
DR OMA; KTCFTNA; -.
DR OrthoDB; 1542519at2759; -.
DR PhylomeDB; A1L188; -.
DR PathwayCommons; A1L188; -.
DR SignaLink; A1L188; -.
DR BioGRID-ORCS; 284184; 279 hits in 1069 CRISPR screens.
DR ChiTaRS; NDUFAF8; human.
DR GenomeRNAi; 284184; -.
DR Pharos; A1L188; Tbio.
DR PRO; PR:A1L188; -.
DR Proteomes; UP000005640; Chromosome 17.
DR RNAct; A1L188; protein.
DR Bgee; ENSG00000224877; Expressed in medial globus pallidus and 179 other tissues.
DR ExpressionAtlas; A1L188; baseline and differential.
DR Genevisible; A1L188; HS.
DR GO; GO:0005739; C:mitochondrion; IDA:UniProtKB.
DR GO; GO:0032981; P:mitochondrial respiratory chain complex I assembly; IMP:UniProtKB.
DR InterPro; IPR034595; NDUFAF8.
DR PANTHER; PTHR34561; PTHR34561; 1.
DR PROSITE; PS51808; CHCH; 1.
PE 1: Evidence at protein level;
KW Disease variant; Disulfide bond; Mitochondrion;
KW Primary mitochondrial disease; Reference proteome.
FT CHAIN 1..74
FT /note="NADH dehydrogenase [ubiquinone] 1 alpha subcomplex
FT assembly factor 8"
FT /id="PRO_0000299480"
FT DOMAIN 22..69
FT /note="CHCH"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01150"
FT MOTIF 25..35
FT /note="Cx9C motif 1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01150"
FT MOTIF 51..61
FT /note="Cx9C motif 2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01150"
FT DISULFID 25..61
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01150"
FT DISULFID 35..51
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01150"
FT VARIANT 55
FT /note="F -> L (in MC1DN34; unknown pathological
FT significance; dbSNP:rs1598368033)"
FT /evidence="ECO:0000269|PubMed:31866046"
FT /id="VAR_083800"
SQ SEQUENCE 74 AA; 7756 MW; F3FCE21C67A3979F CRC64;
MSANGAVWGR VRSRLRAFPE RLAACGAEAA AYGRCVQAST APGGRLSKDF CAREFEALRS
CFAAAAKKTL EGGC
