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UniProtKB - Q3B7T1 (EDRF1_HUMAN)

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Protein

Erythroid differentiation-related factor 1

Gene

EDRF1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-Experimental evidence at protein leveli

Functioni

Transcription factor involved in erythroid differentiation. Involved in transcriptional activation of the globin gene.1 Publication

GO - Biological processi

Complete GO annotation...

Keywordsi

Molecular functionActivator
Biological processTranscription, Transcription regulation

Names & Taxonomyi

Protein namesi
Recommended name:
Erythroid differentiation-related factor 1
Gene namesi
Name:EDRF1
Synonyms:C10orf137
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 10

Organism-specific databases

HGNCiHGNC:24640. EDRF1.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

DisGeNETi26098.
OpenTargetsiENSG00000107938.
PharmGKBiPA134873666.

Polymorphism and mutation databases

BioMutaiEDRF1.
DMDMi109826957.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002442601 – 1238Erythroid differentiation-related factor 1Add BLAST1238

Proteomic databases

EPDiQ3B7T1.
MaxQBiQ3B7T1.
PaxDbiQ3B7T1.
PeptideAtlasiQ3B7T1.
PRIDEiQ3B7T1.

PTM databases

iPTMnetiQ3B7T1.
PhosphoSitePlusiQ3B7T1.

Miscellaneous databases

PMAP-CutDBiQ3B7T1.

Expressioni

Gene expression databases

BgeeiENSG00000107938.
CleanExiHS_C10orf137.
ExpressionAtlasiQ3B7T1. baseline and differential.
GenevisibleiQ3B7T1. HS.

Organism-specific databases

HPAiHPA031820.

Interactioni

Binary interactionsi

Show more details

Protein-protein interaction databases

BioGridi117548. 46 interactors.
IntActiQ3B7T1. 22 interactors.
MINTiMINT-6774634.
STRINGi9606.ENSP00000349244.

Structurei

3D structure databases

ProteinModelPortaliQ3B7T1.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati693 – 726TPR 1Add BLAST34
Repeati914 – 953TPR 2Add BLAST40

Keywords - Domaini

Repeat, TPR repeat

Phylogenomic databases

eggNOGiENOG410IF2A. Eukaryota.
ENOG410XSWW. LUCA.
GeneTreeiENSGT00390000014797.
HOVERGENiHBG081471.
InParanoidiQ3B7T1.
OMAiEFQMTSQ.
OrthoDBiEOG091G00NM.
PhylomeDBiQ3B7T1.
TreeFamiTF324739.

Family and domain databases

Gene3Di1.25.40.10. 1 hit.
InterProiView protein in InterPro
IPR011990. TPR-like_helical_dom.

Sequences (4)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative 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.

« Hide

        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
Length:1,238
Mass (Da):138,528
Last modified:November 22, 2005 - v1
Checksum:i9B4D5130EB10CF95
GO
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 »
Length:796
Mass (Da):88,851
Checksum:iC3BA9B8B1A71B8CD
GO
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 »
Length:593
Mass (Da):66,004
Checksum:iBF58C4A954507048
GO
Isoform 4 (identifier: Q3B7T1-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     266-299: Missing.

Note: No experimental confirmation available.
Show »
Length:1,204
Mass (Da):134,881
Checksum:i02189CCD55CF0AF7
GO

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 keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti443E → G in AAH26172 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03586245N → S in a colorectal cancer sample; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs143528650Ensembl.1
Natural variantiVAR_03586395L → F in a colorectal cancer sample; somatic mutation. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_035712266 – 299Missing in isoform 4. CuratedAdd BLAST34
Alternative sequenceiVSP_035713587 – 593PSCAFPV → LCISSLP in isoform 3. 1 Publication7
Alternative sequenceiVSP_035714594 – 1238Missing in isoform 3. 1 PublicationAdd BLAST645
Alternative sequenceiVSP_019531793 – 796AWAT → KTGK in isoform 2. 1 Publication4
Alternative sequenceiVSP_019532797 – 1238Missing in isoform 2. 1 PublicationAdd BLAST442

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.
CCDSiCCDS55733.1. [Q3B7T1-1]
CCDS7646.1. [Q3B7T1-5]
PIRiT08751.
RefSeqiNP_001189367.1. NM_001202438.1. [Q3B7T1-1]
NP_056423.2. NM_015608.2. [Q3B7T1-5]
UniGeneiHs.468688.

Genome annotation databases

EnsembliENST00000337623; ENSP00000336727; ENSG00000107938. [Q3B7T1-5]
ENST00000356792; ENSP00000349244; ENSG00000107938. [Q3B7T1-1]
ENST00000368815; ENSP00000357805; ENSG00000107938. [Q3B7T1-4]
ENST00000419769; ENSP00000396544; ENSG00000107938. [Q3B7T1-3]
GeneIDi26098.
KEGGihsa:26098.
UCSCiuc001lio.2. human. [Q3B7T1-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiEDRF1_HUMAN
AccessioniPrimary (citable) accession number: Q3B7T1
Secondary accession number(s): B2RC65
, Q3KR40, Q4G190, Q5VZQ4, Q8IZ74, Q9Y3W4
Entry historyiIntegrated into UniProtKB/Swiss-Prot: June 27, 2006
Last sequence update: November 22, 2005
Last modified: August 30, 2017
This is version 104 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 10
    Human chromosome 10: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations