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Protein

Erythroid differentiation-related factor 1

Gene

EDRF1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 3 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

  1. regulation of transcription, DNA-templated Source: UniProtKB-KW
  2. transcription, DNA-templated Source: UniProtKB-KW
Complete GO annotation...

Keywords - Molecular functioni

Activator

Keywords - Biological processi

Transcription, 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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 10

Organism-specific databases

HGNCiHGNC:24640. EDRF1.

Subcellular locationi

Nucleus Curated

GO - Cellular componenti

  1. nucleus Source: UniProtKB-SubCell
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA134873666.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 12381238Erythroid differentiation-related factor 1PRO_0000244260Add
BLAST

Proteomic databases

MaxQBiQ3B7T1.
PaxDbiQ3B7T1.
PRIDEiQ3B7T1.

PTM databases

PhosphoSiteiQ3B7T1.

Miscellaneous databases

PMAP-CutDBQ3B7T1.

Expressioni

Gene expression databases

BgeeiQ3B7T1.
CleanExiHS_C10orf137.
ExpressionAtlasiQ3B7T1. baseline and differential.
GenevestigatoriQ3B7T1.

Organism-specific databases

HPAiHPA031820.

Interactioni

Protein-protein interaction databases

BioGridi117548. 22 interactions.
IntActiQ3B7T1. 11 interactions.
MINTiMINT-6774634.
STRINGi9606.ENSP00000336727.

Structurei

3D structure databases

ProteinModelPortaliQ3B7T1.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Repeati693 – 72634TPR 1Add
BLAST
Repeati914 – 95340TPR 2Add
BLAST

Sequence similaritiesi

Contains 2 TPR repeats.Curated

Keywords - Domaini

Repeat, TPR repeat

Phylogenomic databases

eggNOGiNOG79617.
GeneTreeiENSGT00390000014797.
HOVERGENiHBG081471.
InParanoidiQ3B7T1.
OMAiNTPIPLK.
OrthoDBiEOG7P02H4.
PhylomeDBiQ3B7T1.
TreeFamiTF324739.

Sequences (4)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. Align

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 BAG37462.1 differs from that shown. Reason: Erroneous initiation. Curated
The sequence CAH73214.1 differs from that shown. Reason: Erroneous gene model prediction. Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti443 – 4431E → G in AAH26172. (PubMed:15489334)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti45 – 451N → S in a colorectal cancer sample; somatic mutation. 1 Publication
VAR_035862
Natural varianti95 – 951L → F in a colorectal cancer sample; somatic mutation. 1 Publication
VAR_035863

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei266 – 29934Missing in isoform 4. CuratedVSP_035712Add
BLAST
Alternative sequencei587 – 5937PSCAFPV → LCISSLP in isoform 3. 1 PublicationVSP_035713
Alternative sequencei594 – 1238645Missing in isoform 3. 1 PublicationVSP_035714Add
BLAST
Alternative sequencei793 – 7964AWAT → KTGK in isoform 2. 1 PublicationVSP_019531
Alternative sequencei797 – 1238442Missing in isoform 2. 1 PublicationVSP_019532Add
BLAST

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]
XP_005269746.1. XM_005269689.2. [Q3B7T1-3]
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.
UCSCiuc001lin.3. human. [Q3B7T1-5]
uc001lip.1. human. [Q3B7T1-1]

Polymorphism databases

DMDMi109826957.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

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]
XP_005269746.1. XM_005269689.2. [Q3B7T1-3]
UniGeneiHs.468688.

3D structure databases

ProteinModelPortaliQ3B7T1.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi117548. 22 interactions.
IntActiQ3B7T1. 11 interactions.
MINTiMINT-6774634.
STRINGi9606.ENSP00000336727.

PTM databases

PhosphoSiteiQ3B7T1.

Polymorphism databases

DMDMi109826957.

Proteomic databases

MaxQBiQ3B7T1.
PaxDbiQ3B7T1.
PRIDEiQ3B7T1.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

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.
UCSCiuc001lin.3. human. [Q3B7T1-5]
uc001lip.1. human. [Q3B7T1-1]

Organism-specific databases

CTDi26098.
GeneCardsiGC10P127409.
HGNCiHGNC:24640. EDRF1.
HPAiHPA031820.
neXtProtiNX_Q3B7T1.
PharmGKBiPA134873666.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG79617.
GeneTreeiENSGT00390000014797.
HOVERGENiHBG081471.
InParanoidiQ3B7T1.
OMAiNTPIPLK.
OrthoDBiEOG7P02H4.
PhylomeDBiQ3B7T1.
TreeFamiTF324739.

Miscellaneous databases

GenomeRNAii26098.
NextBioi48077.
PMAP-CutDBQ3B7T1.
PROiQ3B7T1.

Gene expression databases

BgeeiQ3B7T1.
CleanExiHS_C10orf137.
ExpressionAtlasiQ3B7T1. baseline and differential.
GenevestigatoriQ3B7T1.

Family and domain databases

ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "The DNA sequence and comparative analysis of human chromosome 10."
    Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L., Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K., Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L., Taylor A., Battles J.
    , Bird C.P., Ainscough R., Almeida J.P., Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Cahill P., Camire D., Carter N.P., Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S., Corby N., Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L., Frankish A., Frankland J.A., Garner P., Garnett J., Gribble S., Griffiths C., Grocock R., Gustafson E., Hammond S., Harley J.L., Hart E., Heath P.D., Ho T.P., Hopkins B., Horne J., Howden P.J., Huckle E., Hynds C., Johnson C., Johnson D., Kana A., Kay M., Kimberley A.M., Kershaw J.K., Kokkinaki M., Laird G.K., Lawlor S., Lee H.M., Leongamornlert D.A., Laird G., Lloyd C., Lloyd D.M., Loveland J., Lovell J., McLaren S., McLay K.E., McMurray A., Mashreghi-Mohammadi M., Matthews L., Milne S., Nickerson T., Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V., Peck A.I., Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A., Ross M.T., Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W., Tracey A., Tromans A., Tsolas J., Wall M., Walsh J., Wang H., Weinstock K., West A.P., Willey D.L., Whitehead S.L., Wilming L., Wray P.W., Young L., Chen Y., Lovering R.C., Moschonas N.K., Siebert R., Fechtel K., Bentley D., Durbin R.M., Hubbard T., Doucette-Stamm L., Beck S., Smith D.R., Rogers J.
    Nature 429:375-381(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  2. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1; 2 AND 3).
    Tissue: Testis.
  3. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 659-1238 (ISOFORMS 1/4).
    Tissue: Lymphoblast.
  4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 745-1238 (ISOFORMS 1/4).
    Tissue: Uterus.
  5. "A novel erythroid differentiation related gene EDRF1 upregulating globin gene expression in HEL cells."
    Wang D., Li Y., Shen B.
    Chin. Med. J. 115:1701-1705(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION.
  6. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  7. Cited for: VARIANTS [LARGE SCALE ANALYSIS] SER-45 AND PHE-95.

Entry informationi

Entry nameiEDRF1_HUMAN
AccessioniPrimary (citable) accession number: Q3B7T1
Secondary accession number(s): B2RC65
, Q3KR40, Q4G190, Q5VZQ4, Q8IZ74, Q9Y3W4
Entry historyi
Integrated into UniProtKB/Swiss-Prot: June 27, 2006
Last sequence update: November 22, 2005
Last modified: February 4, 2015
This is version 82 of the entry and version 1 of the sequence. [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
  4. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.