FDXA1_HUMAN
ID FDXA1_HUMAN Reviewed; 624 AA.
AC Q9BRP7; A0PJW7; B4DUU2;
DT 18-MAR-2008, integrated into UniProtKB/Swiss-Prot.
DT 18-MAY-2010, sequence version 3.
DT 03-AUG-2022, entry version 134.
DE RecName: Full=Ferredoxin-fold anticodon-binding domain-containing protein 1;
DE Short=FDX-ACDB domain-containing protein 1;
GN Name=FDXACB1;
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] (ISOFORM 2).
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=16554811; DOI=10.1038/nature04632;
RA Taylor T.D., Noguchi H., Totoki Y., Toyoda A., Kuroki Y., Dewar K.,
RA Lloyd C., Itoh T., Takeda T., Kim D.-W., She X., Barlow K.F., Bloom T.,
RA Bruford E., Chang J.L., Cuomo C.A., Eichler E., FitzGerald M.G.,
RA Jaffe D.B., LaButti K., Nicol R., Park H.-S., Seaman C., Sougnez C.,
RA Yang X., Zimmer A.R., Zody M.C., Birren B.W., Nusbaum C., Fujiyama A.,
RA Hattori M., Rogers J., Lander E.S., Sakaki Y.;
RT "Human chromosome 11 DNA sequence and analysis including novel gene
RT identification.";
RL Nature 440:497-500(2006).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], AND VARIANT ASN-87.
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] (ISOFORM 1), AND VARIANT ASN-87.
RC TISSUE=Lymph;
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 -!- INTERACTION:
CC Q9BRP7; Q9NPC7: MYNN; NbExp=3; IntAct=EBI-10297077, EBI-3446748;
CC Q9BRP7; Q12933: TRAF2; NbExp=6; IntAct=EBI-10297077, EBI-355744;
CC Q9BRP7; Q9UGJ1-2: TUBGCP4; NbExp=3; IntAct=EBI-10297077, EBI-10964469;
CC Q9BRP7; P15622-3: ZNF250; NbExp=3; IntAct=EBI-10297077, EBI-10177272;
CC Q9BRP7; Q8TBC5: ZSCAN18; NbExp=3; IntAct=EBI-10297077, EBI-3919096;
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q9BRP7-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q9BRP7-2; Sequence=VSP_056997;
CC -!- SEQUENCE CAUTION:
CC Sequence=AAH06136.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};
CC ---------------------------------------------------------------------------
CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms
CC Distributed under the Creative Commons Attribution (CC BY 4.0) License
CC ---------------------------------------------------------------------------
DR EMBL; AK300795; BAG62454.1; -; mRNA.
DR EMBL; AP001781; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471065; EAW67156.1; -; Genomic_DNA.
DR EMBL; BC006136; AAH06136.1; ALT_INIT; mRNA.
DR EMBL; BC127680; AAI27681.1; -; mRNA.
DR CCDS; CCDS44729.1; -. [Q9BRP7-1]
DR RefSeq; NP_612387.1; NM_138378.2. [Q9BRP7-1]
DR AlphaFoldDB; Q9BRP7; -.
DR SMR; Q9BRP7; -.
DR BioGRID; 124890; 14.
DR IntAct; Q9BRP7; 9.
DR STRING; 9606.ENSP00000260257; -.
DR iPTMnet; Q9BRP7; -.
DR PhosphoSitePlus; Q9BRP7; -.
DR BioMuta; FDXACB1; -.
DR DMDM; 296439342; -.
DR MassIVE; Q9BRP7; -.
DR MaxQB; Q9BRP7; -.
DR PaxDb; Q9BRP7; -.
DR PeptideAtlas; Q9BRP7; -.
DR PRIDE; Q9BRP7; -.
DR ProteomicsDB; 5217; -.
DR ProteomicsDB; 78797; -. [Q9BRP7-1]
DR Antibodypedia; 51439; 18 antibodies from 11 providers.
DR DNASU; 91893; -.
DR Ensembl; ENST00000260257.9; ENSP00000260257.4; ENSG00000255561.7. [Q9BRP7-1]
DR GeneID; 91893; -.
DR KEGG; hsa:91893; -.
DR MANE-Select; ENST00000260257.9; ENSP00000260257.4; NM_138378.3; NP_612387.1.
DR UCSC; uc001pmc.5; human. [Q9BRP7-1]
DR CTD; 91893; -.
DR GeneCards; FDXACB1; -.
DR HGNC; HGNC:25110; FDXACB1.
DR HPA; ENSG00000255561; Low tissue specificity.
DR neXtProt; NX_Q9BRP7; -.
DR OpenTargets; ENSG00000255561; -.
DR PharmGKB; PA164720055; -.
DR VEuPathDB; HostDB:ENSG00000255561; -.
DR eggNOG; KOG2783; Eukaryota.
DR eggNOG; KOG4174; Eukaryota.
DR GeneTree; ENSGT00940000160701; -.
DR HOGENOM; CLU_030162_0_0_1; -.
DR InParanoid; Q9BRP7; -.
DR OMA; RLYVIPR; -.
DR OrthoDB; 1082498at2759; -.
DR PhylomeDB; Q9BRP7; -.
DR TreeFam; TF329685; -.
DR PathwayCommons; Q9BRP7; -.
DR SignaLink; Q9BRP7; -.
DR BioGRID-ORCS; 91893; 10 hits in 1073 CRISPR screens.
DR ChiTaRS; FDXACB1; human.
DR Pharos; Q9BRP7; Tdark.
DR PRO; PR:Q9BRP7; -.
DR Proteomes; UP000005640; Chromosome 11.
DR RNAct; Q9BRP7; protein.
DR Bgee; ENSG00000255561; Expressed in islet of Langerhans and 100 other tissues.
DR ExpressionAtlas; Q9BRP7; baseline and differential.
DR Genevisible; Q9BRP7; HS.
DR GO; GO:0005737; C:cytoplasm; IBA:GO_Central.
DR GO; GO:0070042; F:rRNA (uridine-N3-)-methyltransferase activity; IBA:GO_Central.
DR GO; GO:0070475; P:rRNA base methylation; IBA:GO_Central.
DR Gene3D; 3.30.70.380; -; 1.
DR Gene3D; 3.30.930.10; -; 1.
DR InterPro; IPR045864; aa-tRNA-synth_II/BPL/LPL.
DR InterPro; IPR019446; BMT5-like.
DR InterPro; IPR005121; Fdx_antiC-bd.
DR InterPro; IPR036690; Fdx_antiC-bd_sf.
DR Pfam; PF10354; DUF2431; 1.
DR Pfam; PF03147; FDX-ACB; 1.
DR SMART; SM00896; FDX-ACB; 1.
DR SUPFAM; SSF54991; SSF54991; 1.
DR PROSITE; PS51447; FDX_ACB; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Reference proteome.
FT CHAIN 1..624
FT /note="Ferredoxin-fold anticodon-binding domain-containing
FT protein 1"
FT /id="PRO_0000325956"
FT DOMAIN 531..624
FT /note="FDX-ACB"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00778"
FT VAR_SEQ 1..149
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_056997"
FT VARIANT 28
FT /note="T -> A (in dbSNP:rs59164893)"
FT /id="VAR_062165"
FT VARIANT 87
FT /note="I -> N (in dbSNP:rs611010)"
FT /evidence="ECO:0000269|PubMed:15489334, ECO:0000269|Ref.3"
FT /id="VAR_060321"
FT VARIANT 475
FT /note="T -> P (in dbSNP:rs3168263)"
FT /id="VAR_060322"
SQ SEQUENCE 624 AA; 70416 MW; 13E0C603F94B3E06 CRC64;
MAPRRLLLVG EGNFSFAAAL SETLDQSTQL TATCLQRPAE LARDPLAWEN LQCLRERGID
VRFGVDCTQL ADVFELHERE FDQIYFIFPH CGRKAGVAKN RELLAKFFQS CADVLAEEGE
VHVALCRGQG GTPADKPQRE WHNSWQVVAM AALGGLILSD VYPFSCKAVA GYKCTGYRSQ
DKSFHVEGAL NHIFTRSLPF EGSQPRIFRI KLGNQWFSFP EPEALVGKLN RGFLEAPSCH
PIKTINEKLI AELGKVFPLK RLKCSYPLLP QEGTSVLPFW NCDFLSAAFW ISLHEDNSNS
ESLTGGTSQD VEDFLVSFSE LSLLKNPGRD GKEEACEGTC GQAKICLRPS LLVHVQDVIE
VPDFLSGSLH ILSGPVFQKC HILPFTMPAF HETLFILGVN QNLKDGCLQS LLDHLKGILD
SLLTQTLPES SKLSSLVKFV LQSNGKDYMI RVKTHNFSPD CTEDLIIGSV ITSATSVIHK
DQCFVFVSMN LDLLAMLVWC ISDWRMLWTF DNRFLKNFVP GKIEPFKSHS LYPPCYVHDV
SFWIDQKKGF DELEFHTVAR AVSQDTIISI QFLSRFQHPK TQQVSLCYRL TYQTCDKALT
QQQVASMQSQ FRKEIQQHLY VIPR