UniProtKB - Q3B7T1 (EDRF1_HUMAN)
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Protein
Erythroid differentiation-related factor 1
Gene
EDRF1
Organism
Homo sapiens (Human)
Status
Functioni
Transcription factor involved in erythroid differentiation. Involved in transcriptional activation of the globin gene.1 Publication
Caution
GO - Biological processi
- positive regulation of transcription, DNA-templated Source: UniProtKB
- transcription, DNA-templated Source: UniProtKB-KW
Keywordsi
Molecular function | Activator |
Biological process | Transcription, Transcription regulation |
Names & Taxonomyi
Protein namesi | Recommended name: Erythroid differentiation-related factor 1 |
Gene namesi | Name:EDRF1 Synonyms:C10orf137 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000107938.17 |
HGNCi | HGNC:24640 EDRF1 |
neXtProti | NX_Q3B7T1 |
Pathology & Biotechi
Organism-specific databases
DisGeNETi | 26098 |
OpenTargetsi | ENSG00000107938 |
PharmGKBi | PA134873666 |
Polymorphism and mutation databases
BioMutai | EDRF1 |
DMDMi | 109826957 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000244260 | 1 – 1238 | Erythroid differentiation-related factor 1Add BLAST | 1238 |
Proteomic databases
EPDi | Q3B7T1 |
MaxQBi | Q3B7T1 |
PaxDbi | Q3B7T1 |
PeptideAtlasi | Q3B7T1 |
PRIDEi | Q3B7T1 |
PTM databases
iPTMneti | Q3B7T1 |
PhosphoSitePlusi | Q3B7T1 |
Miscellaneous databases
PMAP-CutDBi | Q3B7T1 |
Expressioni
Gene expression databases
Bgeei | ENSG00000107938 |
CleanExi | HS_C10orf137 |
ExpressionAtlasi | Q3B7T1 baseline and differential |
Genevisiblei | Q3B7T1 HS |
Organism-specific databases
HPAi | HPA031820 |
Interactioni
Binary interactionsi
Protein-protein interaction databases
BioGridi | 11754852 interactors. |
IntActi | Q3B7T1 28 interactors. |
MINTi | Q3B7T1 |
STRINGi | 9606.ENSP00000349244 |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Repeati | 693 – 726 | TPR 1Add BLAST | 34 | |
Repeati | 914 – 953 | TPR 2Add BLAST | 40 |
Keywords - Domaini
Repeat, TPR repeatPhylogenomic databases
eggNOGi | ENOG410IF2A Eukaryota ENOG410XSWW LUCA |
GeneTreei | ENSGT00390000014797 |
HOVERGENi | HBG081471 |
InParanoidi | Q3B7T1 |
OMAi | EFQMTSQ |
OrthoDBi | EOG091G00NM |
PhylomeDBi | Q3B7T1 |
TreeFami | TF324739 |
s (4)i Sequence
Sequence statusi: Complete.
This entry describes 4 produced by isoformsialternative splicing. AlignAdd to basket
Isoform 1 (identifier: Q3B7T1-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
10 20 30 40 50
MGDAKEAGAE GPPAGAAARG GLSLLSQGES EESSAQGSAL FLGGNEVKSR
60 70 80 90 100
AVVKYSSAPP RTAFARLEEK TDLKLPPANW LRESAKLGPA GTTILGNSKK
110 120 130 140 150
SKPFSSFGMA YDFIDSVGND VDVVSDSENI KKLLKIPYSK SHVSMAVHRI
160 170 180 190 200
GRTLLLDELD IQELFMRSSQ TGDWTWLKEF YQRLIDQKWQ RKKKSKEHWY
210 220 230 240 250
QKAILSKFLY YSINGDGAAQ PVSSTAEQQE SSSSDQTNDS EGASWPAPFE
260 270 280 290 300
MPSSVSEDPS ASSQGSEPLE PSYIVGHVAS APKEQNLITL FNDGEHSQGL
310 320 330 340 350
KNDFVRNILW TFEDIHMLVG SNMPIFGGGR YPAVSLRLRD NNKPINVLTG
360 370 380 390 400
IDYWLDNLIC NVPELVMCFH VNGIVQKYEM IKTEEIPNLE NSNFSTKVIK
410 420 430 440 450
DIAQNILSFL KSNCTKEGHT YWLFKASGSD IVKLYDLTTL CEETEDKYQN
460 470 480 490 500
PFTMPVAILL YKVACNMMMK KNQNKKHYGT IRTLLLNCLK LLDKSRHPQI
510 520 530 540 550
IASANYMLSE LFQLDEPKKE ENSESPLNEN SDESYSEEEE EMPDSDENGS
560 570 580 590 600
YSTSSDPSDD SKAVAIIKSV GELSVPEKYK SIHQIRPSCA FPVCHDTEER
610 620 630 640 650
CRLVLSYVLE GLKSVDSSIK KESDLPAADP STPIPLKYED ESSRGGPEGL
660 670 680 690 700
EKQMALFLDK MGSLQKGNYS SQSGMIPGSW QHKMKLQLIL KSSKAYYVLS
710 720 730 740 750
DAAMSLQKYG RALRYIKLAL QSHDTYCCLC TNMLSEVLLF LSQYLTLCGD
760 770 780 790 800
IQLMLAQNAN NRAAHLEEFH YQTKEDQEIL HSLHRESSCQ GFAWATDLST
810 820 830 840 850
DLESQLSVSC KCYEAANEIL QFSDLKSQNP EHYVQVLKRM GNIRNEIGVF
860 870 880 890 900
YMNQAAALQS ERLVSKSVSA AEQQLWKKSF SCFEKGIHNF ESIEDATNAA
910 920 930 940 950
LLLCNTGRLM RICAQAHCGA GDELKREFSP EEGLYYNKAI DYYLKALRSL
960 970 980 990 1000
GTRDIHPAVW DSVNWELSTT YFTMATLQQD YAPLSRKAQE QIEKEVSEAM
1010 1020 1030 1040 1050
MKSLKYCDVD SVSARQPLCQ YRAATIHHRL ASMYHSCLRN QVGDEHLRKQ
1060 1070 1080 1090 1100
HRVLADLHYS KAAKLFQLLK DAPCELLRVQ LERVAFAEFQ MTSQNSNVGK
1110 1120 1130 1140 1150
LKTLSGALDI MVRTEHAFQL IQKELIEEFG QPKSGDAAAA ADASPSLNRE
1160 1170 1180 1190 1200
EVMKLLSIFE SRLSFLLLQS IKLLSSTKKK TSNNIEDDTI LKTNKHIYSQ
1210 1220 1230
LLRATANKTA TLLERINVIV HLLGQLAAGS AASSNAVQ
Isoform 2 (identifier: Q3B7T1-3) [UniParc]FASTAAdd to basket
The sequence of this isoform differs from the canonical sequence as follows:
793-796: AWAT → KTGK
797-1238: Missing.
Note: No experimental confirmation available. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
Show »Isoform 3 (identifier: Q3B7T1-4) [UniParc]FASTAAdd to basket
The sequence of this isoform differs from the canonical sequence as follows:
587-593: PSCAFPV → LCISSLP
594-1238: Missing.
Note: No experimental confirmation available. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
Show »Sequence cautioni
The sequence BAG37462 differs from that shown. Reason: Erroneous initiation.Curated
The sequence CAH73214 differs from that shown. Reason: Erroneous gene model prediction.Curated
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 443 | E → G in AAH26172 (PubMed:15489334).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_035862 | 45 | N → S in a colorectal cancer sample; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs143528650Ensembl. | 1 | |
Natural variantiVAR_035863 | 95 | L → F in a colorectal cancer sample; somatic mutation. 1 Publication | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_035712 | 266 – 299 | Missing in isoform 4. CuratedAdd BLAST | 34 | |
Alternative sequenceiVSP_035713 | 587 – 593 | PSCAFPV → LCISSLP in isoform 3. 1 Publication | 7 | |
Alternative sequenceiVSP_035714 | 594 – 1238 | Missing in isoform 3. 1 PublicationAdd BLAST | 645 | |
Alternative sequenceiVSP_019531 | 793 – 796 | AWAT → KTGK in isoform 2. 1 Publication | 4 | |
Alternative sequenceiVSP_019532 | 797 – 1238 | Missing in isoform 2. 1 PublicationAdd BLAST | 442 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AL158835 Genomic DNA Translation: CAH73214.1 Sequence problems. BC026172 mRNA Translation: AAH26172.1 BC105929 mRNA Translation: AAI05930.1 BC107479 mRNA Translation: AAI07480.1 AK314958 mRNA Translation: BAG37462.1 Different initiation. AL050102 mRNA Translation: CAB43273.1 |
CCDSi | CCDS55733.1 [Q3B7T1-1] CCDS7646.1 [Q3B7T1-5] |
PIRi | T08751 |
RefSeqi | NP_001189367.1, NM_001202438.1 [Q3B7T1-1] NP_056423.2, NM_015608.2 [Q3B7T1-5] |
UniGenei | Hs.468688 |
Genome annotation databases
Ensembli | ENST00000337623; ENSP00000336727; ENSG00000107938 [Q3B7T1-5] ENST00000356792; ENSP00000349244; ENSG00000107938 [Q3B7T1-1] ENST00000368815; ENSP00000357805; ENSG00000107938 [Q3B7T1-4] ENST00000419769; ENSP00000396544; ENSG00000107938 [Q3B7T1-3] |
GeneIDi | 26098 |
KEGGi | hsa:26098 |
UCSCi | uc001lio.2 human [Q3B7T1-1] |
Keywords - Coding sequence diversityi
Alternative splicing, PolymorphismSimilar proteinsi
Entry informationi
Entry namei | EDRF1_HUMAN | |
Accessioni | Q3B7T1Primary (citable) accession number: Q3B7T1 Secondary accession number(s): B2RC65 Q9Y3W4 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | June 27, 2006 |
Last sequence update: | November 22, 2005 | |
Last modified: | March 28, 2018 | |
This is version 109 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |