RBFA_HUMAN
ID RBFA_HUMAN Reviewed; 343 AA.
AC Q8N0V3; Q6PF07; Q8WZ65; Q9H776;
DT 16-AUG-2005, integrated into UniProtKB/Swiss-Prot.
DT 06-MAR-2007, sequence version 3.
DT 03-AUG-2022, entry version 146.
DE RecName: Full=Putative ribosome-binding factor A, mitochondrial;
DE Flags: Precursor;
GN Name=RBFA; Synonyms=C18orf22;
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] (ISOFORMS 1 AND 2).
RA Wang C., Steiner M.S., Li Y., Frankel B.M.;
RT "A novel human gene that shares homology with the hypothetical protein
RT FLJ21172.";
RL Submitted (OCT-2001) to the EMBL/GenBank/DDBJ databases.
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND VARIANT GLN-276.
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 [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND VARIANTS HIS-245
RP AND GLN-276.
RC TISSUE=Lung, and Placenta;
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 [4]
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).
RN [5]
RP STRUCTURE BY NMR OF 80-163.
RG RIKEN structural genomics initiative (RSGI);
RT "Solution structure of putative ribosome-binding factor A (RBFA) from human
RT mitochondrial precursor.";
RL Submitted (JUL-2007) to the PDB data bank.
CC -!- INTERACTION:
CC Q8N0V3; Q8WTS1: ABHD5; NbExp=3; IntAct=EBI-3232108, EBI-2813554;
CC Q8N0V3; Q6RW13-2: AGTRAP; NbExp=3; IntAct=EBI-3232108, EBI-11522760;
CC Q8N0V3; P16157-17: ANK1; NbExp=3; IntAct=EBI-3232108, EBI-941819;
CC Q8N0V3; Q9UGQ2: CACFD1; NbExp=3; IntAct=EBI-3232108, EBI-8652492;
CC Q8N0V3; P56539: CAV3; NbExp=3; IntAct=EBI-3232108, EBI-3905936;
CC Q8N0V3; Q96DZ9: CMTM5; NbExp=3; IntAct=EBI-3232108, EBI-2548702;
CC Q8N0V3; Q96DZ9-2: CMTM5; NbExp=3; IntAct=EBI-3232108, EBI-11522780;
CC Q8N0V3; Q9NX76: CMTM6; NbExp=3; IntAct=EBI-3232108, EBI-1054315;
CC Q8N0V3; Q9GZP9: DERL2; NbExp=3; IntAct=EBI-3232108, EBI-7962814;
CC Q8N0V3; O75477: ERLIN1; NbExp=3; IntAct=EBI-3232108, EBI-359299;
CC Q8N0V3; Q969F0: FATE1; NbExp=3; IntAct=EBI-3232108, EBI-743099;
CC Q8N0V3; Q9Y680: FKBP7; NbExp=3; IntAct=EBI-3232108, EBI-3918971;
CC Q8N0V3; Q8TDT2: GPR152; NbExp=3; IntAct=EBI-3232108, EBI-13345167;
CC Q8N0V3; Q8TED1: GPX8; NbExp=3; IntAct=EBI-3232108, EBI-11721746;
CC Q8N0V3; A8MV81: HIGD1C; NbExp=3; IntAct=EBI-3232108, EBI-12809676;
CC Q8N0V3; O95214: LEPROTL1; NbExp=3; IntAct=EBI-3232108, EBI-750776;
CC Q8N0V3; P21741: MDK; NbExp=3; IntAct=EBI-3232108, EBI-722444;
CC Q8N0V3; O00623: PEX12; NbExp=3; IntAct=EBI-3232108, EBI-594836;
CC Q8N0V3; Q6ZWK4: RHEX; NbExp=3; IntAct=EBI-3232108, EBI-18304046;
CC Q8N0V3; Q71RC9: SMIM5; NbExp=3; IntAct=EBI-3232108, EBI-12334905;
CC Q8N0V3; P08247: SYP; NbExp=3; IntAct=EBI-3232108, EBI-9071725;
CC Q8N0V3; Q16563: SYPL1; NbExp=3; IntAct=EBI-3232108, EBI-2800683;
CC Q8N0V3; O95070: YIF1A; NbExp=3; IntAct=EBI-3232108, EBI-2799703;
CC -!- SUBCELLULAR LOCATION: Mitochondrion {ECO:0000305}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1; Synonyms=p38;
CC IsoId=Q8N0V3-1; Sequence=Displayed;
CC Name=2; Synonyms=p27;
CC IsoId=Q8N0V3-2; Sequence=VSP_015118, VSP_015119;
CC -!- SIMILARITY: Belongs to the RbfA family. {ECO:0000305}.
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DR EMBL; AF261073; AAM20740.1; -; mRNA.
DR EMBL; AF439745; AAL32051.1; -; mRNA.
DR EMBL; AK024825; BAB15022.1; -; mRNA.
DR EMBL; BC014195; AAH14195.1; -; mRNA.
DR EMBL; BC057772; AAH57772.1; -; mRNA.
DR CCDS; CCDS12021.1; -. [Q8N0V3-1]
DR CCDS; CCDS54194.1; -. [Q8N0V3-2]
DR RefSeq; NP_001165438.1; NM_001171967.1. [Q8N0V3-2]
DR RefSeq; NP_079081.2; NM_024805.2. [Q8N0V3-1]
DR PDB; 2E7G; NMR; -; A=86-201.
DR PDBsum; 2E7G; -.
DR AlphaFoldDB; Q8N0V3; -.
DR SMR; Q8N0V3; -.
DR BioGRID; 122951; 68.
DR IntAct; Q8N0V3; 39.
DR MINT; Q8N0V3; -.
DR STRING; 9606.ENSP00000305696; -.
DR iPTMnet; Q8N0V3; -.
DR PhosphoSitePlus; Q8N0V3; -.
DR BioMuta; RBFA; -.
DR DMDM; 146334837; -.
DR EPD; Q8N0V3; -.
DR jPOST; Q8N0V3; -.
DR MassIVE; Q8N0V3; -.
DR MaxQB; Q8N0V3; -.
DR PaxDb; Q8N0V3; -.
DR PeptideAtlas; Q8N0V3; -.
DR PRIDE; Q8N0V3; -.
DR ProteomicsDB; 71465; -. [Q8N0V3-1]
DR ProteomicsDB; 71466; -. [Q8N0V3-2]
DR Antibodypedia; 23520; 87 antibodies from 15 providers.
DR DNASU; 79863; -.
DR Ensembl; ENST00000262197.7; ENSP00000262197.6; ENSG00000101546.13. [Q8N0V3-2]
DR Ensembl; ENST00000306735.10; ENSP00000305696.4; ENSG00000101546.13. [Q8N0V3-1]
DR GeneID; 79863; -.
DR KEGG; hsa:79863; -.
DR MANE-Select; ENST00000306735.10; ENSP00000305696.4; NM_024805.3; NP_079081.2.
DR UCSC; uc002lns.4; human. [Q8N0V3-1]
DR CTD; 79863; -.
DR DisGeNET; 79863; -.
DR GeneCards; RBFA; -.
DR HGNC; HGNC:26120; RBFA.
DR HPA; ENSG00000101546; Low tissue specificity.
DR neXtProt; NX_Q8N0V3; -.
DR OpenTargets; ENSG00000101546; -.
DR PharmGKB; PA134885774; -.
DR VEuPathDB; HostDB:ENSG00000101546; -.
DR eggNOG; KOG4700; Eukaryota.
DR GeneTree; ENSGT00390000011362; -.
DR HOGENOM; CLU_067827_0_0_1; -.
DR InParanoid; Q8N0V3; -.
DR OMA; VCGINHE; -.
DR OrthoDB; 1420734at2759; -.
DR PhylomeDB; Q8N0V3; -.
DR TreeFam; TF328637; -.
DR PathwayCommons; Q8N0V3; -.
DR SignaLink; Q8N0V3; -.
DR BioGRID-ORCS; 79863; 86 hits in 1082 CRISPR screens.
DR ChiTaRS; RBFA; human.
DR EvolutionaryTrace; Q8N0V3; -.
DR GenomeRNAi; 79863; -.
DR Pharos; Q8N0V3; Tbio.
DR PRO; PR:Q8N0V3; -.
DR Proteomes; UP000005640; Chromosome 18.
DR RNAct; Q8N0V3; protein.
DR Bgee; ENSG00000101546; Expressed in tendon of biceps brachii and 165 other tissues.
DR Genevisible; Q8N0V3; HS.
DR GO; GO:0005739; C:mitochondrion; IEA:UniProtKB-SubCell.
DR GO; GO:0006364; P:rRNA processing; IEA:UniProtKB-KW.
DR Gene3D; 3.30.300.20; -; 1.
DR InterPro; IPR015946; KH_dom-like_a/b.
DR InterPro; IPR000238; RbfA.
DR InterPro; IPR023799; RbfA_dom_sf.
DR InterPro; IPR039212; RBFA_mitochondrial.
DR InterPro; IPR020053; Ribosome-bd_factorA_CS.
DR PANTHER; PTHR14725; PTHR14725; 1.
DR Pfam; PF02033; RBFA; 1.
DR SUPFAM; SSF89919; SSF89919; 1.
DR PROSITE; PS01319; RBFA; 1.
PE 1: Evidence at protein level;
KW 3D-structure; Alternative splicing; Mitochondrion; Reference proteome;
KW rRNA processing; Transit peptide.
FT TRANSIT 1..41
FT /note="Mitochondrion"
FT /evidence="ECO:0000255"
FT CHAIN 42..343
FT /note="Putative ribosome-binding factor A, mitochondrial"
FT /id="PRO_0000030226"
FT REGION 214..234
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 275..343
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 320..343
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 164..242
FT /note="RHLLMSQQTLRNVPPIVFVQDKGNAALAELDQLLAVADFGPRDERDNFVQND
FT FRDPDAPQPCGTTEPTTSSSLCGIDHE -> SLISYWQSQTLDPGMKETTLYKMISGTL
FT MPHNPAAPQSRPQAPVCVGSIMRRSTSRLWSTKGGKIKGSGAWCGRGRWLS (in
FT isoform 2)"
FT /evidence="ECO:0000303|Ref.1"
FT /id="VSP_015118"
FT VAR_SEQ 243..343
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|Ref.1"
FT /id="VSP_015119"
FT VARIANT 122
FT /note="V -> M (in dbSNP:rs748338)"
FT /id="VAR_023233"
FT VARIANT 245
FT /note="N -> H (in dbSNP:rs3744872)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_023234"
FT VARIANT 276
FT /note="K -> Q (in dbSNP:rs3744873)"
FT /evidence="ECO:0000269|PubMed:14702039,
FT ECO:0000269|PubMed:15489334"
FT /id="VAR_023235"
FT CONFLICT 326
FT /note="E -> G (in Ref. 1; AAM20740)"
FT /evidence="ECO:0000305"
FT HELIX 88..107
FT /evidence="ECO:0007829|PDB:2E7G"
FT TURN 111..113
FT /evidence="ECO:0007829|PDB:2E7G"
FT HELIX 115..120
FT /evidence="ECO:0007829|PDB:2E7G"
FT STRAND 124..129
FT /evidence="ECO:0007829|PDB:2E7G"
FT STRAND 136..140
FT /evidence="ECO:0007829|PDB:2E7G"
FT HELIX 146..158
FT /evidence="ECO:0007829|PDB:2E7G"
FT HELIX 160..168
FT /evidence="ECO:0007829|PDB:2E7G"
FT STRAND 179..183
FT /evidence="ECO:0007829|PDB:2E7G"
SQ SEQUENCE 343 AA; 38359 MW; E8BE374855BEF403 CRC64;
MWAAAGGLWR SRAGLRALFR SRDAALFPGC ERGLHCSAVS CKNWLKKFAS KTKKKVWYES
PSLGSHSTYK PSKLEFLMRS TSKKTRKEDH ARLRALNGLL YKALTDLLCT PEVSQELYDL
NVELSKVSLT PDFSACRAYW KTTLSAEQNA HMEAVLQRSA AHMRHLLMSQ QTLRNVPPIV
FVQDKGNAAL AELDQLLAVA DFGPRDERDN FVQNDFRDPD APQPCGTTEP TTSSSLCGID
HEALNKQIME YKRRKDKGLG GLVWQGQVAE LTTQMKKGRK RAKPRLEQDS SLKSYLSGEE
VEDDLDLVGA PEYECYAPDT EELEAERGGG RTEDGHSCGA SRE
