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Q3B7T1 (EDRF1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 74. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (4) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Erythroid differentiation-related factor 1
Gene names
Name:EDRF1
Synonyms:C10orf137
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1238 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Transcription factor involved in erythroid differentiation. Involved in transcriptional activation of the globin gene. Ref.5

Subcellular location

Nucleus Probable.

Sequence similarities

Contains 2 TPR repeats.

Sequence caution

The sequence BAG37462.1 differs from that shown. Reason: Erroneous initiation.

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

Ontologies

Keywords
   Biological processTranscription
Transcription regulation
   Cellular componentNucleus
   Coding sequence diversityAlternative splicing
Polymorphism
   DomainRepeat
TPR repeat
   Molecular functionActivator
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processregulation of transcription, DNA-templated

Inferred from electronic annotation. Source: UniProtKB-KW

transcription, DNA-templated

Inferred from electronic annotation. Source: UniProtKB-KW

   Cellular_componentnucleus

Inferred from electronic annotation. Source: UniProtKB-SubCell

Complete GO annotation...

Alternative products

This entry describes 4 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q3B7T1-1)

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.
Isoform 2 (identifier: Q3B7T1-3)

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.
Isoform 3 (identifier: Q3B7T1-4)

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.
Isoform 4 (identifier: Q3B7T1-5)

The sequence of this isoform differs from the canonical sequence as follows:
     266-299: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 12381238Erythroid differentiation-related factor 1
PRO_0000244260

Regions

Repeat693 – 72634TPR 1
Repeat914 – 95340TPR 2

Natural variations

Alternative sequence266 – 29934Missing in isoform 4.
VSP_035712
Alternative sequence587 – 5937PSCAFPV → LCISSLP in isoform 3.
VSP_035713
Alternative sequence594 – 1238645Missing in isoform 3.
VSP_035714
Alternative sequence793 – 7964AWAT → KTGK in isoform 2.
VSP_019531
Alternative sequence797 – 1238442Missing in isoform 2.
VSP_019532
Natural variant451N → S in a colorectal cancer sample; somatic mutation. Ref.7
VAR_035862
Natural variant951L → F in a colorectal cancer sample; somatic mutation. Ref.7
VAR_035863

Experimental info

Sequence conflict4431E → G in AAH26172. Ref.2

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified November 22, 2005. Version 1.
Checksum: 9B4D5130EB10CF95

FASTA1,238138,528
        10         20         30         40         50         60 
MGDAKEAGAE GPPAGAAARG GLSLLSQGES EESSAQGSAL FLGGNEVKSR AVVKYSSAPP 

        70         80         90        100        110        120 
RTAFARLEEK TDLKLPPANW LRESAKLGPA GTTILGNSKK SKPFSSFGMA YDFIDSVGND 

       130        140        150        160        170        180 
VDVVSDSENI KKLLKIPYSK SHVSMAVHRI GRTLLLDELD IQELFMRSSQ TGDWTWLKEF 

       190        200        210        220        230        240 
YQRLIDQKWQ RKKKSKEHWY QKAILSKFLY YSINGDGAAQ PVSSTAEQQE SSSSDQTNDS 

       250        260        270        280        290        300 
EGASWPAPFE MPSSVSEDPS ASSQGSEPLE PSYIVGHVAS APKEQNLITL FNDGEHSQGL 

       310        320        330        340        350        360 
KNDFVRNILW TFEDIHMLVG SNMPIFGGGR YPAVSLRLRD NNKPINVLTG IDYWLDNLIC 

       370        380        390        400        410        420 
NVPELVMCFH VNGIVQKYEM IKTEEIPNLE NSNFSTKVIK DIAQNILSFL KSNCTKEGHT 

       430        440        450        460        470        480 
YWLFKASGSD IVKLYDLTTL CEETEDKYQN PFTMPVAILL YKVACNMMMK KNQNKKHYGT 

       490        500        510        520        530        540 
IRTLLLNCLK LLDKSRHPQI IASANYMLSE LFQLDEPKKE ENSESPLNEN SDESYSEEEE 

       550        560        570        580        590        600 
EMPDSDENGS YSTSSDPSDD SKAVAIIKSV GELSVPEKYK SIHQIRPSCA FPVCHDTEER 

       610        620        630        640        650        660 
CRLVLSYVLE GLKSVDSSIK KESDLPAADP STPIPLKYED ESSRGGPEGL EKQMALFLDK 

       670        680        690        700        710        720 
MGSLQKGNYS SQSGMIPGSW QHKMKLQLIL KSSKAYYVLS DAAMSLQKYG RALRYIKLAL 

       730        740        750        760        770        780 
QSHDTYCCLC TNMLSEVLLF LSQYLTLCGD IQLMLAQNAN NRAAHLEEFH YQTKEDQEIL 

       790        800        810        820        830        840 
HSLHRESSCQ GFAWATDLST DLESQLSVSC KCYEAANEIL QFSDLKSQNP EHYVQVLKRM 

       850        860        870        880        890        900 
GNIRNEIGVF YMNQAAALQS ERLVSKSVSA AEQQLWKKSF SCFEKGIHNF ESIEDATNAA 

       910        920        930        940        950        960 
LLLCNTGRLM RICAQAHCGA GDELKREFSP EEGLYYNKAI DYYLKALRSL GTRDIHPAVW 

       970        980        990       1000       1010       1020 
DSVNWELSTT YFTMATLQQD YAPLSRKAQE QIEKEVSEAM MKSLKYCDVD SVSARQPLCQ 

      1030       1040       1050       1060       1070       1080 
YRAATIHHRL ASMYHSCLRN QVGDEHLRKQ HRVLADLHYS KAAKLFQLLK DAPCELLRVQ 

      1090       1100       1110       1120       1130       1140 
LERVAFAEFQ MTSQNSNVGK LKTLSGALDI MVRTEHAFQL IQKELIEEFG QPKSGDAAAA 

      1150       1160       1170       1180       1190       1200 
ADASPSLNRE EVMKLLSIFE SRLSFLLLQS IKLLSSTKKK TSNNIEDDTI LKTNKHIYSQ 

      1210       1220       1230 
LLRATANKTA TLLERINVIV HLLGQLAAGS AASSNAVQ 

« Hide

Isoform 2 [UniParc].

Checksum: C3BA9B8B1A71B8CD
Show »

FASTA79688,851
Isoform 3 [UniParc].

Checksum: BF58C4A954507048
Show »

FASTA59366,004
Isoform 4 [UniParc].

Checksum: 02189CCD55CF0AF7
Show »

FASTA1,204134,881

References

« Hide 'large scale' references
[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. expand/collapse author list , 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. expand/collapse author list , 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]"The full-ORF clone resource of the German cDNA consortium."
Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I.
BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract]
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]"Initial characterization of the human central proteome."
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[7]"The consensus coding sequences of human breast and colorectal cancers."
Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V. expand/collapse author list , Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H., Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W., Velculescu V.E.
Science 314:268-274(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS [LARGE SCALE ANALYSIS] SER-45 AND PHE-95.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
PIRT08751.
RefSeqNP_001189367.1. NM_001202438.1.
NP_056423.2. NM_015608.2.
XP_005269746.1. XM_005269689.2.
UniGeneHs.468688.

3D structure databases

ProteinModelPortalQ3B7T1.
SMRQ3B7T1. Positions 695-720, 882-910.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid117548. 10 interactions.
IntActQ3B7T1. 8 interactions.
MINTMINT-6774634.
STRING9606.ENSP00000336727.

PTM databases

PhosphoSiteQ3B7T1.

Polymorphism databases

DMDM109826957.

Proteomic databases

PaxDbQ3B7T1.
PRIDEQ3B7T1.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000337623; ENSP00000336727; ENSG00000107938. [Q3B7T1-5]
ENST00000356792; ENSP00000349244; ENSG00000107938. [Q3B7T1-1]
ENST00000368815; ENSP00000357805; ENSG00000107938. [Q3B7T1-4]
ENST00000419769; ENSP00000396544; ENSG00000107938. [Q3B7T1-3]
GeneID26098.
KEGGhsa:26098.
UCSCuc001lin.3. human. [Q3B7T1-5]
uc001lip.1. human. [Q3B7T1-1]

Organism-specific databases

CTD26098.
GeneCardsGC10P127408.
HGNCHGNC:24640. EDRF1.
HPAHPA031820.
neXtProtNX_Q3B7T1.
PharmGKBPA134873666.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG79617.
HOVERGENHBG081471.
OMAFAEFQMT.
OrthoDBEOG7P02H4.
PhylomeDBQ3B7T1.
TreeFamTF324739.

Gene expression databases

ArrayExpressQ3B7T1.
BgeeQ3B7T1.
CleanExHS_C10orf137.
GenevestigatorQ3B7T1.

Family and domain databases

ProtoNetSearch...

Other

ChiTaRSC10orf137. human.
GenomeRNAi26098.
NextBio48077.
PMAP-CutDBQ3B7T1.
PROQ3B7T1.

Entry information

Entry nameEDRF1_HUMAN
AccessionPrimary (citable) accession number: Q3B7T1
Secondary accession number(s): B2RC65 expand/collapse secondary AC list , Q3KR40, Q4G190, Q5VZQ4, Q8IZ74, Q9Y3W4
Entry history
Integrated into UniProtKB/Swiss-Prot: June 27, 2006
Last sequence update: November 22, 2005
Last modified: April 16, 2014
This is version 74 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 10

Human chromosome 10: entries, gene names and cross-references to MIM