SDHF3_HUMAN
ID SDHF3_HUMAN Reviewed; 125 AA.
AC Q9NRP4; A4D1J3; Q75MD6;
DT 25-OCT-2005, integrated into UniProtKB/Swiss-Prot.
DT 01-OCT-2000, sequence version 1.
DT 03-AUG-2022, entry version 120.
DE RecName: Full=Succinate dehydrogenase assembly factor 3, mitochondrial {ECO:0000250|UniProtKB:Q04401, ECO:0000312|HGNC:HGNC:21752};
DE Short=SDH assembly factor 3 {ECO:0000250|UniProtKB:Q04401};
DE Short=SDHAF3 {ECO:0000250|UniProtKB:Q04401};
DE Flags: Precursor;
GN Name=SDHAF3 {ECO:0000312|HGNC:HGNC:21752};
GN Synonyms=ACN9 {ECO:0000312|HGNC:HGNC:21752}; ORFNames=DC11;
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].
RC TISSUE=Dendritic cell;
RA Gu J., Huang Q., Shi J., Xu S., Han Z., Fu G., Chen Z.;
RT "Novel genes expressed in human dendritic cell.";
RL Submitted (NOV-1999) to the EMBL/GenBank/DDBJ databases.
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=12690205; DOI=10.1126/science.1083423;
RA Scherer S.W., Cheung J., MacDonald J.R., Osborne L.R., Nakabayashi K.,
RA Herbrick J.-A., Carson A.R., Parker-Katiraee L., Skaug J., Khaja R.,
RA Zhang J., Hudek A.K., Li M., Haddad M., Duggan G.E., Fernandez B.A.,
RA Kanematsu E., Gentles S., Christopoulos C.C., Choufani S., Kwasnicka D.,
RA Zheng X.H., Lai Z., Nusskern D.R., Zhang Q., Gu Z., Lu F., Zeesman S.,
RA Nowaczyk M.J., Teshima I., Chitayat D., Shuman C., Weksberg R.,
RA Zackai E.H., Grebe T.A., Cox S.R., Kirkpatrick S.J., Rahman N.,
RA Friedman J.M., Heng H.H.Q., Pelicci P.G., Lo-Coco F., Belloni E.,
RA Shaffer L.G., Pober B., Morton C.C., Gusella J.F., Bruns G.A.P., Korf B.R.,
RA Quade B.J., Ligon A.H., Ferguson H., Higgins A.W., Leach N.T.,
RA Herrick S.R., Lemyre E., Farra C.G., Kim H.-G., Summers A.M., Gripp K.W.,
RA Roberts W., Szatmari P., Winsor E.J.T., Grzeschik K.-H., Teebi A.,
RA Minassian B.A., Kere J., Armengol L., Pujana M.A., Estivill X.,
RA Wilson M.D., Koop B.F., Tosi S., Moore G.E., Boright A.P., Zlotorynski E.,
RA Kerem B., Kroisel P.M., Petek E., Oscier D.G., Mould S.J., Doehner H.,
RA Doehner K., Rommens J.M., Vincent J.B., Venter J.C., Li P.W., Mural R.J.,
RA Adams M.D., Tsui L.-C.;
RT "Human chromosome 7: DNA sequence and biology.";
RL Science 300:767-772(2003).
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 (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=12853948; DOI=10.1038/nature01782;
RA Hillier L.W., Fulton R.S., Fulton L.A., Graves T.A., Pepin K.H.,
RA Wagner-McPherson C., Layman D., Maas J., Jaeger S., Walker R., Wylie K.,
RA Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E., Fewell G.A.,
RA Delehaunty K.D., Miner T.L., Nash W.E., Cordes M., Du H., Sun H.,
RA Edwards J., Bradshaw-Cordum H., Ali J., Andrews S., Isak A., Vanbrunt A.,
RA Nguyen C., Du F., Lamar B., Courtney L., Kalicki J., Ozersky P.,
RA Bielicki L., Scott K., Holmes A., Harkins R., Harris A., Strong C.M.,
RA Hou S., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Leonard S.,
RA Rohlfing T., Rock S.M., Tin-Wollam A.-M., Abbott A., Minx P., Maupin R.,
RA Strowmatt C., Latreille P., Miller N., Johnson D., Murray J.,
RA Woessner J.P., Wendl M.C., Yang S.-P., Schultz B.R., Wallis J.W.,
RA Spieth J., Bieri T.A., Nelson J.O., Berkowicz N., Wohldmann P.E.,
RA Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Bedell J.A.,
RA Mardis E.R., Clifton S.W., Chissoe S.L., Marra M.A., Raymond C., Haugen E.,
RA Gillett W., Zhou Y., James R., Phelps K., Iadanoto S., Bubb K., Simms E.,
RA Levy R., Clendenning J., Kaul R., Kent W.J., Furey T.S., Baertsch R.A.,
RA Brent M.R., Keibler E., Flicek P., Bork P., Suyama M., Bailey J.A.,
RA Portnoy M.E., Torrents D., Chinwalla A.T., Gish W.R., Eddy S.R.,
RA McPherson J.D., Olson M.V., Eichler E.E., Green E.D., Waterston R.H.,
RA Wilson R.K.;
RT "The DNA sequence of human chromosome 7.";
RL Nature 424:157-164(2003).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Bone marrow, and Liver;
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 [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: Plays an essential role in the assembly of succinate
CC dehydrogenase (SDH), an enzyme complex (also referred to as respiratory
CC complex II) that is a component of both the tricarboxylic acid (TCA)
CC cycle and the mitochondrial electron transport chain, and which couples
CC the oxidation of succinate to fumarate with the reduction of ubiquinone
CC (coenzyme Q) to ubiquinol. Promotes maturation of the iron-sulfur
CC protein subunit SDHB of the SDH catalytic dimer, protecting it from the
CC deleterious effects of oxidants. May act together with SDHAF1.
CC {ECO:0000250|UniProtKB:Q04401, ECO:0000250|UniProtKB:Q8SZ16}.
CC -!- SUBUNIT: Interacts with SDHB within an SDHA-SDHB subcomplex.
CC {ECO:0000250|UniProtKB:Q04401}.
CC -!- SUBCELLULAR LOCATION: Mitochondrion matrix
CC {ECO:0000250|UniProtKB:Q04401}.
CC -!- SIMILARITY: Belongs to the complex I LYR family. SDHAF3 subfamily.
CC {ECO:0000305}.
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DR EMBL; AF201933; AAF86869.1; -; mRNA.
DR EMBL; AC073421; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC073900; AAS07570.1; -; Genomic_DNA.
DR EMBL; CH236949; EAL24120.1; -; Genomic_DNA.
DR EMBL; CH471091; EAW76740.1; -; Genomic_DNA.
DR EMBL; BC020621; AAH20621.1; -; mRNA.
DR EMBL; BC022858; AAH22858.1; -; mRNA.
DR CCDS; CCDS5648.1; -.
DR RefSeq; NP_064571.1; NM_020186.2.
DR AlphaFoldDB; Q9NRP4; -.
DR BioGRID; 121316; 79.
DR IntAct; Q9NRP4; 16.
DR STRING; 9606.ENSP00000414066; -.
DR iPTMnet; Q9NRP4; -.
DR PhosphoSitePlus; Q9NRP4; -.
DR BioMuta; SDHAF3; -.
DR DMDM; 74734325; -.
DR EPD; Q9NRP4; -.
DR jPOST; Q9NRP4; -.
DR MassIVE; Q9NRP4; -.
DR MaxQB; Q9NRP4; -.
DR PaxDb; Q9NRP4; -.
DR PeptideAtlas; Q9NRP4; -.
DR PRIDE; Q9NRP4; -.
DR ProteomicsDB; 82400; -.
DR Antibodypedia; 55557; 71 antibodies from 14 providers.
DR DNASU; 57001; -.
DR Ensembl; ENST00000432641.3; ENSP00000414066.2; ENSG00000196636.8.
DR GeneID; 57001; -.
DR KEGG; hsa:57001; -.
DR MANE-Select; ENST00000432641.3; ENSP00000414066.2; NM_020186.3; NP_064571.1.
DR UCSC; uc003uoo.5; human.
DR CTD; 57001; -.
DR DisGeNET; 57001; -.
DR GeneCards; SDHAF3; -.
DR HGNC; HGNC:21752; SDHAF3.
DR HPA; ENSG00000196636; Low tissue specificity.
DR MIM; 615773; gene.
DR neXtProt; NX_Q9NRP4; -.
DR OpenTargets; ENSG00000196636; -.
DR PharmGKB; PA134976380; -.
DR VEuPathDB; HostDB:ENSG00000196636; -.
DR eggNOG; KOG4100; Eukaryota.
DR GeneTree; ENSGT00390000010029; -.
DR HOGENOM; CLU_102310_2_1_1; -.
DR InParanoid; Q9NRP4; -.
DR OMA; LTEWQMY; -.
DR OrthoDB; 1613308at2759; -.
DR PhylomeDB; Q9NRP4; -.
DR TreeFam; TF105635; -.
DR PathwayCommons; Q9NRP4; -.
DR SignaLink; Q9NRP4; -.
DR BioGRID-ORCS; 57001; 16 hits in 1078 CRISPR screens.
DR GenomeRNAi; 57001; -.
DR Pharos; Q9NRP4; Tbio.
DR PRO; PR:Q9NRP4; -.
DR Proteomes; UP000005640; Chromosome 7.
DR RNAct; Q9NRP4; protein.
DR Bgee; ENSG00000196636; Expressed in rectum and 164 other tissues.
DR ExpressionAtlas; Q9NRP4; baseline and differential.
DR Genevisible; Q9NRP4; HS.
DR GO; GO:0005758; C:mitochondrial intermembrane space; ISS:HGNC-UCL.
DR GO; GO:0005759; C:mitochondrial matrix; IEA:UniProtKB-SubCell.
DR GO; GO:0034553; P:mitochondrial respiratory chain complex II assembly; IBA:GO_Central.
DR GO; GO:0006111; P:regulation of gluconeogenesis; ISS:UniProtKB.
DR GO; GO:0006105; P:succinate metabolic process; IBA:GO_Central.
DR InterPro; IPR008381; SDHAF3/Sdh7.
DR PANTHER; PTHR13137; PTHR13137; 1.
PE 1: Evidence at protein level;
KW Chaperone; Mitochondrion; Reference proteome; Transit peptide.
FT TRANSIT 1..30
FT /note="Mitochondrion"
FT /evidence="ECO:0000255"
FT CHAIN 31..125
FT /note="Succinate dehydrogenase assembly factor 3,
FT mitochondrial"
FT /id="PRO_0000042653"
SQ SEQUENCE 125 AA; 14652 MW; 8C6897D7815966FA CRC64;
MPGRHVSRVR ALYKRVLQLH RVLPPDLKSL GDQYVKDEFR RHKTVGSDEA QRFLQEWEVY
ATALLQQANE NRQNSTGKAC FGTFLPEEKL NDFRDEQIGQ LQELMQEATK PNRQFSISES
MKPKF
