FA47E_HUMAN
ID FA47E_HUMAN Reviewed; 393 AA.
AC Q6ZV65; D6R8Y4;
DT 18-MAR-2008, integrated into UniProtKB/Swiss-Prot.
DT 05-APR-2011, sequence version 3.
DT 03-AUG-2022, entry version 113.
DE RecName: Full=Protein FAM47E;
GN Name=FAM47E;
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] (ISOFORMS 1 AND 2).
RC TISSUE=Subthalamic nucleus, and Tongue;
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 MRNA] (ISOFORM 3).
RC TISSUE=Placenta;
RA Li W.B., Gruber C., Jessee J., Polayes D.;
RT "Full-length cDNA libraries and normalization.";
RL Submitted (JUL-2004) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15815621; DOI=10.1038/nature03466;
RA Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P.,
RA Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C.,
RA Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L.,
RA Du H., Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A.,
RA Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J.,
RA Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M.,
RA Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T.,
RA Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S.,
RA Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K.,
RA McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C.,
RA Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S.,
RA Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C.,
RA Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M.,
RA Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C.,
RA Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J.,
RA Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E.,
RA Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X.,
RA Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M.,
RA Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C.,
RA Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S.,
RA Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H.,
RA Wilson R.K.;
RT "Generation and annotation of the DNA sequences of human chromosomes 2 and
RT 4.";
RL Nature 434:724-731(2005).
RN [4]
RP FUNCTION, INTERACTION WITH PRMT5, AND SUBCELLULAR LOCATION.
RX PubMed=33376131; DOI=10.26508/lsa.202000699;
RA Chakrapani B., Khan M.I.K., Kadumuri R.V., Gupta S., Verma M., Awasthi S.,
RA Govindaraju G., Mahesh A., Rajavelu A., Chavali S., Dhayalan A.;
RT "The uncharacterized protein FAM47E interacts with PRMT5 and regulates its
RT functions.";
RL Life. Sci Alliance 4:e202000699-e202000699(2021).
CC -!- FUNCTION: Promotes histone methylation by localizing the arginine
CC methyltransferase PRMT5 to chromatin. {ECO:0000269|PubMed:33376131}.
CC -!- SUBUNIT: Interacts with PRMT5; the interaction is direct
CC (PubMed:33376131). Interacts with WDR77 (PubMed:33376131).
CC {ECO:0000269|PubMed:33376131}.
CC -!- INTERACTION:
CC Q6ZV65; O14744: PRMT5; NbExp=2; IntAct=EBI-26583822, EBI-351098;
CC Q6ZV65-2; O14744-1: PRMT5; NbExp=5; IntAct=EBI-26583549, EBI-26583938;
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:33376131}. Chromosome
CC {ECO:0000269|PubMed:33376131}. Cytoplasm {ECO:0000269|PubMed:33376131}.
CC Note=Localizes to promoter regions of PRMT5 target genes.
CC {ECO:0000269|PubMed:33376131}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q6ZV65-3; Sequence=Displayed;
CC Name=2;
CC IsoId=Q6ZV65-2; Sequence=VSP_040931, VSP_040932, VSP_040933;
CC Name=3;
CC IsoId=Q6ZV65-1; Sequence=VSP_040934;
CC -!- SIMILARITY: Belongs to the FAM47 family. {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; AK092277; -; NOT_ANNOTATED_CDS; mRNA.
DR EMBL; AK124936; BAC85998.1; -; mRNA.
DR EMBL; CR591456; -; NOT_ANNOTATED_CDS; mRNA.
DR EMBL; AC034139; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR CCDS; CCDS47081.1; -. [Q6ZV65-3]
DR CCDS; CCDS58907.1; -. [Q6ZV65-2]
DR RefSeq; NP_001130042.1; NM_001136570.2. [Q6ZV65-3]
DR RefSeq; NP_001229865.1; NM_001242936.1. [Q6ZV65-2]
DR RefSeq; NP_001229868.1; NM_001242939.1. [Q6ZV65-1]
DR AlphaFoldDB; Q6ZV65; -.
DR BioGRID; 1530105; 3.
DR BioGRID; 934170; 2.
DR IntAct; Q6ZV65; 2.
DR STRING; 9606.ENSP00000409423; -.
DR BioMuta; FAM47E; -.
DR DMDM; 327478584; -.
DR PaxDb; Q6ZV65; -.
DR PeptideAtlas; Q6ZV65; -.
DR PRIDE; Q6ZV65; -.
DR Antibodypedia; 64546; 34 antibodies from 11 providers.
DR DNASU; 100129583; -.
DR Ensembl; ENST00000424749.7; ENSP00000409423.2; ENSG00000189157.14. [Q6ZV65-3]
DR Ensembl; ENST00000510197.5; ENSP00000422262.1; ENSG00000189157.14. [Q6ZV65-2]
DR GeneID; 100129583; -.
DR GeneID; 100631383; -.
DR KEGG; hsa:100129583; -.
DR KEGG; hsa:100631383; -.
DR MANE-Select; ENST00000424749.7; ENSP00000409423.2; NM_001136570.3; NP_001130042.1.
DR UCSC; uc003hjv.4; human. [Q6ZV65-3]
DR CTD; 100129583; -.
DR CTD; 100631383; -.
DR DisGeNET; 100129583; -.
DR DisGeNET; 100631383; -.
DR GeneCards; FAM47E; -.
DR HGNC; HGNC:34343; FAM47E.
DR HPA; ENSG00000189157; Low tissue specificity.
DR neXtProt; NX_Q6ZV65; -.
DR OpenTargets; ENSG00000189157; -.
DR OpenTargets; ENSG00000272414; -.
DR VEuPathDB; HostDB:ENSG00000189157; -.
DR eggNOG; ENOG502QRUF; Eukaryota.
DR GeneTree; ENSGT00940000162425; -.
DR HOGENOM; CLU_092258_0_0_1; -.
DR InParanoid; Q6ZV65; -.
DR OMA; LRMSATV; -.
DR OrthoDB; 678383at2759; -.
DR PhylomeDB; Q6ZV65; -.
DR TreeFam; TF340932; -.
DR PathwayCommons; Q6ZV65; -.
DR SignaLink; Q6ZV65; -.
DR BioGRID-ORCS; 100129583; 7 hits in 1058 CRISPR screens.
DR BioGRID-ORCS; 100631383; 11 hits in 969 CRISPR screens.
DR ChiTaRS; FAM47E; human.
DR Pharos; Q6ZV65; Tdark.
DR PRO; PR:Q6ZV65; -.
DR Proteomes; UP000005640; Chromosome 4.
DR RNAct; Q6ZV65; protein.
DR Bgee; ENSG00000189157; Expressed in right uterine tube and 90 other tissues.
DR ExpressionAtlas; Q6ZV65; baseline and differential.
DR GO; GO:0000785; C:chromatin; IDA:UniProtKB.
DR GO; GO:0005737; C:cytoplasm; IDA:UniProtKB.
DR GO; GO:0005634; C:nucleus; IDA:UniProtKB.
DR GO; GO:0008047; F:enzyme activator activity; IMP:ARUK-UCL.
DR GO; GO:0045815; P:epigenetic maintenance of chromatin in transcription-competent conformation; IMP:ARUK-UCL.
DR GO; GO:0031062; P:positive regulation of histone methylation; IMP:UniProtKB.
DR GO; GO:0071168; P:protein localization to chromatin; IMP:UniProtKB.
DR InterPro; IPR032743; FAM47.
DR PANTHER; PTHR46449; PTHR46449; 1.
DR Pfam; PF14642; FAM47; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Chromatin regulator; Chromosome; Coiled coil;
KW Cytoplasm; Nucleus; Reference proteome.
FT CHAIN 1..393
FT /note="Protein FAM47E"
FT /id="PRO_0000326074"
FT COILED 326..354
FT /evidence="ECO:0000255"
FT VAR_SEQ 1..113
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_040931"
FT VAR_SEQ 114..140
FT /note="FLEDVEAHLTPHPLALYLNLEEAMPIE -> MQMSVPCVLSSLQNHEPNKPL
FT FTTQSQ (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_040932"
FT VAR_SEQ 223
FT /note="N -> NVCKAVSDFCKWVTTF (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_040933"
FT VAR_SEQ 343..393
FT /note="EELLADLHGTVAFKDFILSRGYRTPRFLENMYIGKECKRACNKTPIKRTQA
FT -> SIFKKAMDI (in isoform 3)"
FT /evidence="ECO:0000303|Ref.2"
FT /id="VSP_040934"
FT CONFLICT 273
FT /note="E -> K (in Ref. 1; BAC85998)"
FT /evidence="ECO:0000305"
FT CONFLICT 366
FT /note="T -> M (in Ref. 1; BAC85998)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 393 AA; 45662 MW; 0945D3CDA7B471F8 CRC64;
MADRRRRLRP GTLAPVREGV NCRSRCFTKH KNGLKFPTSL HSRQLVFPRK GLDDFRKGCP
PCTGLVTQVP VEGFLPQIYH RAPQLAPKKR QIKLLKEADV LSKLSPAQQA RKAFLEDVEA
HLTPHPLALY LNLEEAMPIE LLSKVLEVLD PDRKLEDTWA YCQDTRKGMK EPTKLLKKHS
TQVYLGPSKK TSVSNAGQWL YEEKPHKMDL LHENGPRPGL HENGISDIDE EFILKQFDID
YETKPSHDAL HTMKLNQVPL ELKRSVGLSK LQETEFFQKL GYERKLQKPQ NPYKPKWVKM
RYGAWYLNPK LWKKQRVDEP LVDPEVSHKA QEENFKKELQ EQEELLADLH GTVAFKDFIL
SRGYRTPRFL ENMYIGKECK RACNKTPIKR TQA
