EDRF1_HUMAN
ID EDRF1_HUMAN Reviewed; 1238 AA.
AC Q3B7T1; B2RC65; Q3KR40; Q4G190; Q5VZQ4; Q8IZ74; Q9Y3W4;
DT 27-JUN-2006, integrated into UniProtKB/Swiss-Prot.
DT 22-NOV-2005, sequence version 1.
DT 03-AUG-2022, entry version 134.
DE RecName: Full=Erythroid differentiation-related factor 1;
GN Name=EDRF1; Synonyms=C10orf137;
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 GENOMIC DNA].
RX PubMed=15164054; DOI=10.1038/nature02462;
RA Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L.,
RA Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K.,
RA Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L.,
RA Taylor A., Battles J., Bird C.P., Ainscough R., Almeida J.P.,
RA Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J.,
RA Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J., Brown J.Y.,
RA Burford D.C., Burrill W., Burton J., Cahill P., Camire D., Carter N.P.,
RA Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S., Corby N.,
RA Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L., Frankish A.,
RA Frankland J.A., Garner P., Garnett J., Gribble S., Griffiths C.,
RA Grocock R., Gustafson E., Hammond S., Harley J.L., Hart E., Heath P.D.,
RA Ho T.P., Hopkins B., Horne J., Howden P.J., Huckle E., Hynds C.,
RA Johnson C., Johnson D., Kana A., Kay M., Kimberley A.M., Kershaw J.K.,
RA Kokkinaki M., Laird G.K., Lawlor S., Lee H.M., Leongamornlert D.A.,
RA Laird G., Lloyd C., Lloyd D.M., Loveland J., Lovell J., McLaren S.,
RA McLay K.E., McMurray A., Mashreghi-Mohammadi M., Matthews L., Milne S.,
RA Nickerson T., Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V.,
RA Peck A.I., Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A.,
RA Ross M.T., Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M.,
RA Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W., Tracey A.,
RA Tromans A., Tsolas J., Wall M., Walsh J., Wang H., Weinstock K., West A.P.,
RA Willey D.L., Whitehead S.L., Wilming L., Wray P.W., Young L., Chen Y.,
RA Lovering R.C., Moschonas N.K., Siebert R., Fechtel K., Bentley D.,
RA Durbin R.M., Hubbard T., Doucette-Stamm L., Beck S., Smith D.R., Rogers J.;
RT "The DNA sequence and comparative analysis of human chromosome 10.";
RL Nature 429:375-381(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1; 2 AND 3).
RC TISSUE=Testis;
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 [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 659-1238 (ISOFORMS 1/4).
RC TISSUE=Lymphoblast;
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 [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 745-1238 (ISOFORMS 1/4).
RC TISSUE=Uterus;
RX PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D.,
RA Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A.,
RA Wiemann S., Schupp I.;
RT "The full-ORF clone resource of the German cDNA consortium.";
RL BMC Genomics 8:399-399(2007).
RN [5]
RP FUNCTION.
RX PubMed=12609092;
RA Wang D., Li Y., Shen B.;
RT "A novel erythroid differentiation related gene EDRF1 upregulating globin
RT gene expression in HEL cells.";
RL Chin. Med. J. 115:1701-1705(2002).
RN [6]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=21269460; DOI=10.1186/1752-0509-5-17;
RA Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T.,
RA Bennett K.L., Superti-Furga G., Colinge J.;
RT "Initial characterization of the human central proteome.";
RL BMC Syst. Biol. 5:17-17(2011).
RN [7]
RP VARIANTS [LARGE SCALE ANALYSIS] SER-45 AND PHE-95.
RX PubMed=16959974; DOI=10.1126/science.1133427;
RA Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D.,
RA Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P.,
RA Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V.,
RA Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H.,
RA Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W.,
RA Velculescu V.E.;
RT "The consensus coding sequences of human breast and colorectal cancers.";
RL Science 314:268-274(2006).
CC -!- FUNCTION: Transcription factor involved in erythroid differentiation.
CC Involved in transcriptional activation of the globin gene.
CC {ECO:0000269|PubMed:12609092}.
CC -!- INTERACTION:
CC Q3B7T1; P05067: APP; NbExp=3; IntAct=EBI-2870947, EBI-77613;
CC Q3B7T1; P54253: ATXN1; NbExp=3; IntAct=EBI-2870947, EBI-930964;
CC Q3B7T1; P54252: ATXN3; NbExp=3; IntAct=EBI-2870947, EBI-946046;
CC Q3B7T1; P42858: HTT; NbExp=18; IntAct=EBI-2870947, EBI-466029;
CC Q3B7T1; O14832: PHYH; NbExp=3; IntAct=EBI-2870947, EBI-721853;
CC Q3B7T1; O76024: WFS1; NbExp=3; IntAct=EBI-2870947, EBI-720609;
CC Q3B7T1-5; O00471: EXOC5; NbExp=3; IntAct=EBI-10240074, EBI-949824;
CC Q3B7T1-5; Q8N0S2: SYCE1; NbExp=3; IntAct=EBI-10240074, EBI-6872807;
CC Q3B7T1-5; Q99081: TCF12; NbExp=3; IntAct=EBI-10240074, EBI-722877;
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=4;
CC Name=1;
CC IsoId=Q3B7T1-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q3B7T1-3; Sequence=VSP_019531, VSP_019532;
CC Name=3;
CC IsoId=Q3B7T1-4; Sequence=VSP_035713, VSP_035714;
CC Name=4;
CC IsoId=Q3B7T1-5; Sequence=VSP_035712;
CC -!- MISCELLANEOUS: [Isoform 2]: May be produced at very low levels due to a
CC premature stop codon in the mRNA, leading to nonsense-mediated mRNA
CC decay. {ECO:0000305}.
CC -!- MISCELLANEOUS: [Isoform 3]: May be produced at very low levels due to a
CC premature stop codon in the mRNA, leading to nonsense-mediated mRNA
CC decay. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAG37462.1; Type=Erroneous initiation; Evidence={ECO:0000305};
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DR EMBL; AL158835; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC026172; AAH26172.1; -; mRNA.
DR EMBL; BC105929; AAI05930.1; -; mRNA.
DR EMBL; BC107479; AAI07480.1; -; mRNA.
DR EMBL; AK314958; BAG37462.1; ALT_INIT; mRNA.
DR EMBL; AL050102; CAB43273.1; -; mRNA.
DR CCDS; CCDS55733.1; -. [Q3B7T1-1]
DR CCDS; CCDS7646.1; -. [Q3B7T1-5]
DR PIR; T08751; T08751.
DR RefSeq; NP_001189367.1; NM_001202438.1. [Q3B7T1-1]
DR RefSeq; NP_056423.2; NM_015608.2. [Q3B7T1-5]
DR AlphaFoldDB; Q3B7T1; -.
DR BioGRID; 117548; 103.
DR IntAct; Q3B7T1; 49.
DR MINT; Q3B7T1; -.
DR STRING; 9606.ENSP00000349244; -.
DR iPTMnet; Q3B7T1; -.
DR MetOSite; Q3B7T1; -.
DR PhosphoSitePlus; Q3B7T1; -.
DR BioMuta; EDRF1; -.
DR DMDM; 109826957; -.
DR EPD; Q3B7T1; -.
DR jPOST; Q3B7T1; -.
DR MassIVE; Q3B7T1; -.
DR MaxQB; Q3B7T1; -.
DR PaxDb; Q3B7T1; -.
DR PeptideAtlas; Q3B7T1; -.
DR PRIDE; Q3B7T1; -.
DR ProteomicsDB; 61658; -. [Q3B7T1-1]
DR ProteomicsDB; 61659; -. [Q3B7T1-3]
DR ProteomicsDB; 61660; -. [Q3B7T1-4]
DR ProteomicsDB; 61661; -. [Q3B7T1-5]
DR Antibodypedia; 32399; 59 antibodies from 14 providers.
DR DNASU; 26098; -.
DR Ensembl; ENST00000337623.7; ENSP00000336727.3; ENSG00000107938.18. [Q3B7T1-5]
DR Ensembl; ENST00000356792.9; ENSP00000349244.4; ENSG00000107938.18. [Q3B7T1-1]
DR Ensembl; ENST00000368815.6; ENSP00000357805.2; ENSG00000107938.18. [Q3B7T1-4]
DR Ensembl; ENST00000419769.6; ENSP00000396544.2; ENSG00000107938.18. [Q3B7T1-3]
DR GeneID; 26098; -.
DR KEGG; hsa:26098; -.
DR MANE-Select; ENST00000356792.9; ENSP00000349244.4; NM_001202438.2; NP_001189367.1.
DR UCSC; uc001lio.2; human. [Q3B7T1-1]
DR CTD; 26098; -.
DR DisGeNET; 26098; -.
DR GeneCards; EDRF1; -.
DR HGNC; HGNC:24640; EDRF1.
DR HPA; ENSG00000107938; Low tissue specificity.
DR neXtProt; NX_Q3B7T1; -.
DR OpenTargets; ENSG00000107938; -.
DR PharmGKB; PA134873666; -.
DR VEuPathDB; HostDB:ENSG00000107938; -.
DR eggNOG; ENOG502QTNC; Eukaryota.
DR GeneTree; ENSGT00390000014797; -.
DR HOGENOM; CLU_019306_0_0_1; -.
DR InParanoid; Q3B7T1; -.
DR OMA; AFLYCNM; -.
DR OrthoDB; 323777at2759; -.
DR PhylomeDB; Q3B7T1; -.
DR TreeFam; TF324739; -.
DR PathwayCommons; Q3B7T1; -.
DR SignaLink; Q3B7T1; -.
DR BioGRID-ORCS; 26098; 18 hits in 1074 CRISPR screens.
DR ChiTaRS; EDRF1; human.
DR GenomeRNAi; 26098; -.
DR Pharos; Q3B7T1; Tbio.
DR PRO; PR:Q3B7T1; -.
DR Proteomes; UP000005640; Chromosome 10.
DR RNAct; Q3B7T1; protein.
DR Bgee; ENSG00000107938; Expressed in right testis and 190 other tissues.
DR ExpressionAtlas; Q3B7T1; baseline and differential.
DR Genevisible; Q3B7T1; HS.
DR GO; GO:0005634; C:nucleus; IEA:UniProtKB-SubCell.
DR GO; GO:0045893; P:positive regulation of transcription, DNA-templated; IMP:UniProtKB.
PE 1: Evidence at protein level;
KW Activator; Alternative splicing; Nucleus; Reference proteome; Repeat;
KW TPR repeat; Transcription; Transcription regulation.
FT CHAIN 1..1238
FT /note="Erythroid differentiation-related factor 1"
FT /id="PRO_0000244260"
FT REPEAT 693..726
FT /note="TPR 1"
FT REPEAT 914..953
FT /note="TPR 2"
FT REGION 1..38
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 220..268
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 517..561
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 620..647
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 220..243
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 531..546
FT /note="Acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 266..299
FT /note="Missing (in isoform 4)"
FT /evidence="ECO:0000305"
FT /id="VSP_035712"
FT VAR_SEQ 587..593
FT /note="PSCAFPV -> LCISSLP (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_035713"
FT VAR_SEQ 594..1238
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_035714"
FT VAR_SEQ 793..796
FT /note="AWAT -> KTGK (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_019531"
FT VAR_SEQ 797..1238
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_019532"
FT VARIANT 45
FT /note="N -> S (in a colorectal cancer sample; somatic
FT mutation; dbSNP:rs143528650)"
FT /evidence="ECO:0000269|PubMed:16959974"
FT /id="VAR_035862"
FT VARIANT 95
FT /note="L -> F (in a colorectal cancer sample; somatic
FT mutation)"
FT /evidence="ECO:0000269|PubMed:16959974"
FT /id="VAR_035863"
FT CONFLICT 443
FT /note="E -> G (in Ref. 2; AAH26172)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 1238 AA; 138528 MW; 9B4D5130EB10CF95 CRC64;
MGDAKEAGAE GPPAGAAARG GLSLLSQGES EESSAQGSAL FLGGNEVKSR AVVKYSSAPP
RTAFARLEEK TDLKLPPANW LRESAKLGPA GTTILGNSKK SKPFSSFGMA YDFIDSVGND
VDVVSDSENI KKLLKIPYSK SHVSMAVHRI GRTLLLDELD IQELFMRSSQ TGDWTWLKEF
YQRLIDQKWQ RKKKSKEHWY QKAILSKFLY YSINGDGAAQ PVSSTAEQQE SSSSDQTNDS
EGASWPAPFE MPSSVSEDPS ASSQGSEPLE PSYIVGHVAS APKEQNLITL FNDGEHSQGL
KNDFVRNILW TFEDIHMLVG SNMPIFGGGR YPAVSLRLRD NNKPINVLTG IDYWLDNLIC
NVPELVMCFH VNGIVQKYEM IKTEEIPNLE NSNFSTKVIK DIAQNILSFL KSNCTKEGHT
YWLFKASGSD IVKLYDLTTL CEETEDKYQN PFTMPVAILL YKVACNMMMK KNQNKKHYGT
IRTLLLNCLK LLDKSRHPQI IASANYMLSE LFQLDEPKKE ENSESPLNEN SDESYSEEEE
EMPDSDENGS YSTSSDPSDD SKAVAIIKSV GELSVPEKYK SIHQIRPSCA FPVCHDTEER
CRLVLSYVLE GLKSVDSSIK KESDLPAADP STPIPLKYED ESSRGGPEGL EKQMALFLDK
MGSLQKGNYS SQSGMIPGSW QHKMKLQLIL KSSKAYYVLS DAAMSLQKYG RALRYIKLAL
QSHDTYCCLC TNMLSEVLLF LSQYLTLCGD IQLMLAQNAN NRAAHLEEFH YQTKEDQEIL
HSLHRESSCQ GFAWATDLST DLESQLSVSC KCYEAANEIL QFSDLKSQNP EHYVQVLKRM
GNIRNEIGVF YMNQAAALQS ERLVSKSVSA AEQQLWKKSF SCFEKGIHNF ESIEDATNAA
LLLCNTGRLM RICAQAHCGA GDELKREFSP EEGLYYNKAI DYYLKALRSL GTRDIHPAVW
DSVNWELSTT YFTMATLQQD YAPLSRKAQE QIEKEVSEAM MKSLKYCDVD SVSARQPLCQ
YRAATIHHRL ASMYHSCLRN QVGDEHLRKQ HRVLADLHYS KAAKLFQLLK DAPCELLRVQ
LERVAFAEFQ MTSQNSNVGK LKTLSGALDI MVRTEHAFQL IQKELIEEFG QPKSGDAAAA
ADASPSLNRE EVMKLLSIFE SRLSFLLLQS IKLLSSTKKK TSNNIEDDTI LKTNKHIYSQ
LLRATANKTA TLLERINVIV HLLGQLAAGS AASSNAVQ
