YAE1_HUMAN
ID YAE1_HUMAN Reviewed; 226 AA.
AC Q9NRH1; A4D1W4; B4DE83; Q6IAF7; Q8WVZ5;
DT 05-JUL-2005, integrated into UniProtKB/Swiss-Prot.
DT 01-OCT-2000, sequence version 1.
DT 03-AUG-2022, entry version 126.
DE RecName: Full=Protein YAE1 homolog {ECO:0000305};
DE AltName: Full=Yae1 domain-containing protein 1;
GN Name=YAE1 {ECO:0000312|HGNC:HGNC:24857};
GN Synonyms=C7orf36, YAE1D1 {ECO:0000312|HGNC:HGNC:24857}; ORFNames=GK003;
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 1).
RC TISSUE=Liver cancer;
RA Li Y., Wu T., Xu S., Ren S., Chen Z., Han Z.;
RT "A novel gene expressed in human liver cancer tissue.";
RL Submitted (JAN-2000) to the EMBL/GenBank/DDBJ databases.
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Cerebellum;
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).
RA Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B.;
RT "Cloning of human full open reading frames in Gateway(TM) system entry
RT vector (pDONR201).";
RL Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases.
RN [4]
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 [5]
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 (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [6]
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 [7]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=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 [8]
RP INTERACTION WITH LTO1.
RX PubMed=23318452; DOI=10.1038/onc.2012.604;
RA Zhai C., Li Y., Mascarenhas C., Lin Q., Li K., Vyrides I., Grant C.M.,
RA Panaretou B.;
RT "The function of ORAOV1/LTO1, a gene that is overexpressed frequently in
RT cancer: essential roles in the function and biogenesis of the ribosome.";
RL Oncogene 33:484-494(2014).
RN [9]
RP FUNCTION.
RX PubMed=26182403; DOI=10.7554/elife.08231;
RA Paul V.D., Muehlenhoff U., Stuempfig M., Seebacher J., Kugler K.G.,
RA Renicke C., Taxis C., Gavin A.C., Pierik A.J., Lill R.;
RT "The deca-GX3 proteins Yae1-Lto1 function as adaptors recruiting the ABC
RT protein Rli1 for iron-sulfur cluster insertion.";
RL Elife 4:E08231-E08231(2015).
CC -!- FUNCTION: The complex LTO1:YAE1 functions as a target specific adapter
CC that probably recruits apo-ABCE1 to the cytosolic iron-sulfur protein
CC assembly (CIA) complex machinery (PubMed:26182403). May be required for
CC biogenesis of the large ribosomal subunit and initiation of translation
CC (PubMed:26182403). {ECO:0000269|PubMed:26182403}.
CC -!- SUBUNIT: Forms a complex with LTO1. {ECO:0000269|PubMed:23318452}.
CC -!- INTERACTION:
CC Q9NRH1; Q9UPT5-1: EXOC7; NbExp=3; IntAct=EBI-712905, EBI-6251402;
CC Q9NRH1; Q8WV07: LTO1; NbExp=8; IntAct=EBI-712905, EBI-12249832;
CC -!- SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:P47118}. Nucleus
CC {ECO:0000250|UniProtKB:P47118}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q9NRH1-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q9NRH1-2; Sequence=VSP_055295, VSP_055296;
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DR EMBL; AF226046; AAF86946.1; -; mRNA.
DR EMBL; AK293511; BAG56994.1; -; mRNA.
DR EMBL; CR457198; CAG33479.1; -; mRNA.
DR EMBL; AC004837; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC011290; AAQ96864.1; -; Genomic_DNA.
DR EMBL; CH236951; EAL23993.1; -; Genomic_DNA.
DR EMBL; CH471073; EAW94120.1; -; Genomic_DNA.
DR EMBL; BC022043; AAH22043.1; -; mRNA.
DR CCDS; CCDS5459.1; -. [Q9NRH1-1]
DR CCDS; CCDS64630.1; -. [Q9NRH1-2]
DR RefSeq; NP_001269375.1; NM_001282446.1. [Q9NRH1-2]
DR RefSeq; NP_064577.1; NM_020192.4. [Q9NRH1-1]
DR AlphaFoldDB; Q9NRH1; -.
DR SMR; Q9NRH1; -.
DR BioGRID; 121317; 27.
DR IntAct; Q9NRH1; 29.
DR MINT; Q9NRH1; -.
DR STRING; 9606.ENSP00000223273; -.
DR GlyGen; Q9NRH1; 1 site, 1 O-linked glycan (1 site).
DR iPTMnet; Q9NRH1; -.
DR PhosphoSitePlus; Q9NRH1; -.
DR BioMuta; YAE1D1; -.
DR DMDM; 68565323; -.
DR EPD; Q9NRH1; -.
DR jPOST; Q9NRH1; -.
DR MassIVE; Q9NRH1; -.
DR MaxQB; Q9NRH1; -.
DR PaxDb; Q9NRH1; -.
DR PeptideAtlas; Q9NRH1; -.
DR PRIDE; Q9NRH1; -.
DR ProteomicsDB; 3927; -.
DR ProteomicsDB; 82361; -. [Q9NRH1-1]
DR Antibodypedia; 35328; 104 antibodies from 18 providers.
DR DNASU; 57002; -.
DR Ensembl; ENST00000223273.7; ENSP00000223273.2; ENSG00000241127.8. [Q9NRH1-1]
DR Ensembl; ENST00000432096.2; ENSP00000395777.2; ENSG00000241127.8. [Q9NRH1-2]
DR GeneID; 57002; -.
DR KEGG; hsa:57002; -.
DR MANE-Select; ENST00000223273.7; ENSP00000223273.2; NM_020192.5; NP_064577.1.
DR UCSC; uc003thc.5; human. [Q9NRH1-1]
DR CTD; 57002; -.
DR DisGeNET; 57002; -.
DR GeneCards; YAE1; -.
DR HGNC; HGNC:24857; YAE1.
DR HPA; ENSG00000241127; Low tissue specificity.
DR neXtProt; NX_Q9NRH1; -.
DR OpenTargets; ENSG00000241127; -.
DR PharmGKB; PA134961882; -.
DR VEuPathDB; HostDB:ENSG00000241127; -.
DR eggNOG; KOG4774; Eukaryota.
DR GeneTree; ENSGT00390000011176; -.
DR HOGENOM; CLU_108310_0_0_1; -.
DR InParanoid; Q9NRH1; -.
DR OMA; KEWNSTM; -.
DR OrthoDB; 1192442at2759; -.
DR PhylomeDB; Q9NRH1; -.
DR TreeFam; TF333198; -.
DR PathwayCommons; Q9NRH1; -.
DR SignaLink; Q9NRH1; -.
DR BioGRID-ORCS; 57002; 678 hits in 1087 CRISPR screens.
DR ChiTaRS; YAE1D1; human.
DR GenomeRNAi; 57002; -.
DR Pharos; Q9NRH1; Tbio.
DR PRO; PR:Q9NRH1; -.
DR Proteomes; UP000005640; Chromosome 7.
DR RNAct; Q9NRH1; protein.
DR Bgee; ENSG00000241127; Expressed in left ventricle myocardium and 183 other tissues.
DR ExpressionAtlas; Q9NRH1; baseline and differential.
DR Genevisible; Q9NRH1; HS.
DR GO; GO:0005737; C:cytoplasm; IEA:UniProtKB-SubCell.
DR GO; GO:0005634; C:nucleus; IEA:UniProtKB-SubCell.
DR GO; GO:0106035; P:protein maturation by [4Fe-4S] cluster transfer; IDA:UniProtKB.
DR InterPro; IPR019191; Essential_protein_Yae1_N.
DR InterPro; IPR038881; Yae1-like.
DR PANTHER; PTHR18829; PTHR18829; 1.
DR Pfam; PF09811; Yae1_N; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Cytoplasm; Nucleus; Reference proteome.
FT CHAIN 1..226
FT /note="Protein YAE1 homolog"
FT /id="PRO_0000089591"
FT REGION 45..85
FT /note="deca-GX3 motif; required for interaction with LTO1"
FT /evidence="ECO:0000250|UniProtKB:P47118"
FT VAR_SEQ 84..206
FT /note="SALLSWCHLHNNNSTLINKINNLLDAVGQCEEYVLKHLKSITPPSHVVDLLD
FT SIEDMDLCHVVPAEKKIDEAKDERLCENNAEFNKNCSKSHSGIDCSYVECCRTQEHAHS
FT ENPSPTWILEQT -> RNSTDWSLLGLRAPLRSPEVGTQLLPRPLPVPGHMASGATPKQ
FT PTELEATLLSLVPQSGRATPRFPARLRAPGPGTPSHRRRFRRKPHRDPAAACPAWPPEA
FT PSNSETHFSTYNRIIIRGGHI (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_055295"
FT VAR_SEQ 207..226
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_055296"
FT VARIANT 68
FT /note="K -> E (in dbSNP:rs6947660)"
FT /id="VAR_024306"
FT CONFLICT 18
FT /note="D -> G (in Ref. 3; CAG33479)"
FT /evidence="ECO:0000305"
FT CONFLICT 21
FT /note="D -> E (in Ref. 7; AAH22043)"
FT /evidence="ECO:0000305"
FT CONFLICT 214
FT /note="G -> D (in Ref. 3; CAG33479)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 226 AA; 25299 MW; 403133C215381E79 CRC64;
MSWVQAASLI QGPGDKGDVF DEEADESLLA QREWQSNMQR RVKEGYRDGI DAGKAVTLQQ
GFNQGYKKGA EVILNYGRLR GTLSALLSWC HLHNNNSTLI NKINNLLDAV GQCEEYVLKH
LKSITPPSHV VDLLDSIEDM DLCHVVPAEK KIDEAKDERL CENNAEFNKN CSKSHSGIDC
SYVECCRTQE HAHSENPSPT WILEQTASLV KQLGLSVDVL QHLKQL
