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Q3B7T1

- EDRF1_HUMAN

UniProt

Q3B7T1 - EDRF1_HUMAN

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Protein
Erythroid differentiation-related factor 1
Gene
EDRF1, C10orf137
Organism
Homo sapiens (Human)
Status
Reviewed - 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 Inferred

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 1
PRO_0000244260Add
BLAST

Proteomic databases

MaxQBiQ3B7T1.
PaxDbiQ3B7T1.
PRIDEiQ3B7T1.

PTM databases

PhosphoSiteiQ3B7T1.

Miscellaneous databases

PMAP-CutDBQ3B7T1.

Expressioni

Gene expression databases

ArrayExpressiQ3B7T1.
BgeeiQ3B7T1.
CleanExiHS_C10orf137.
GenevestigatoriQ3B7T1.

Organism-specific databases

HPAiHPA031820.

Interactioni

Protein-protein interaction databases

BioGridi117548. 10 interactions.
IntActiQ3B7T1. 9 interactions.
MINTiMINT-6774634.
STRINGi9606.ENSP00000336727.

Structurei

3D structure databases

ProteinModelPortaliQ3B7T1.

Family & Domainsi

Domains and Repeats

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

Sequence similaritiesi

Contains 2 TPR repeats.

Keywords - Domaini

Repeat, TPR repeat

Phylogenomic databases

eggNOGiNOG79617.
HOVERGENiHBG081471.
OMAiFAEFQMT.
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

MGDAKEAGAE GPPAGAAARG GLSLLSQGES EESSAQGSAL FLGGNEVKSR     50
AVVKYSSAPP RTAFARLEEK TDLKLPPANW LRESAKLGPA GTTILGNSKK 100
SKPFSSFGMA YDFIDSVGND VDVVSDSENI KKLLKIPYSK SHVSMAVHRI 150
GRTLLLDELD IQELFMRSSQ TGDWTWLKEF YQRLIDQKWQ RKKKSKEHWY 200
QKAILSKFLY YSINGDGAAQ PVSSTAEQQE SSSSDQTNDS EGASWPAPFE 250
MPSSVSEDPS ASSQGSEPLE PSYIVGHVAS APKEQNLITL FNDGEHSQGL 300
KNDFVRNILW TFEDIHMLVG SNMPIFGGGR YPAVSLRLRD NNKPINVLTG 350
IDYWLDNLIC NVPELVMCFH VNGIVQKYEM IKTEEIPNLE NSNFSTKVIK 400
DIAQNILSFL KSNCTKEGHT YWLFKASGSD IVKLYDLTTL CEETEDKYQN 450
PFTMPVAILL YKVACNMMMK KNQNKKHYGT IRTLLLNCLK LLDKSRHPQI 500
IASANYMLSE LFQLDEPKKE ENSESPLNEN SDESYSEEEE EMPDSDENGS 550
YSTSSDPSDD SKAVAIIKSV GELSVPEKYK SIHQIRPSCA FPVCHDTEER 600
CRLVLSYVLE GLKSVDSSIK KESDLPAADP STPIPLKYED ESSRGGPEGL 650
EKQMALFLDK MGSLQKGNYS SQSGMIPGSW QHKMKLQLIL KSSKAYYVLS 700
DAAMSLQKYG RALRYIKLAL QSHDTYCCLC TNMLSEVLLF LSQYLTLCGD 750
IQLMLAQNAN NRAAHLEEFH YQTKEDQEIL HSLHRESSCQ GFAWATDLST 800
DLESQLSVSC KCYEAANEIL QFSDLKSQNP EHYVQVLKRM GNIRNEIGVF 850
YMNQAAALQS ERLVSKSVSA AEQQLWKKSF SCFEKGIHNF ESIEDATNAA 900
LLLCNTGRLM RICAQAHCGA GDELKREFSP EEGLYYNKAI DYYLKALRSL 950
GTRDIHPAVW DSVNWELSTT YFTMATLQQD YAPLSRKAQE QIEKEVSEAM 1000
MKSLKYCDVD SVSARQPLCQ YRAATIHHRL ASMYHSCLRN QVGDEHLRKQ 1050
HRVLADLHYS KAAKLFQLLK DAPCELLRVQ LERVAFAEFQ MTSQNSNVGK 1100
LKTLSGALDI MVRTEHAFQL IQKELIEEFG QPKSGDAAAA ADASPSLNRE 1150
EVMKLLSIFE SRLSFLLLQS IKLLSSTKKK TSNNIEDDTI LKTNKHIYSQ 1200
LLRATANKTA TLLERINVIV HLLGQLAAGS AASSNAVQ 1238
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.
The sequence CAH73214.1 differs from that shown. Reason: Erroneous gene model prediction.

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.
VSP_035712Add
BLAST
Alternative sequencei587 – 5937PSCAFPV → LCISSLP in isoform 3.
VSP_035713
Alternative sequencei594 – 1238645Missing in isoform 3.
VSP_035714Add
BLAST
Alternative sequencei793 – 7964AWAT → KTGK in isoform 2.
VSP_019531
Alternative sequencei797 – 1238442Missing in isoform 2.
VSP_019532Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti443 – 4431E → G in AAH26172. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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:
EMBL
GenBank
DDBJ
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 ]
XP_005269746.1. XM_005269689.2. [Q3B7T1-3 ]
UniGenei Hs.468688.

3D structure databases

ProteinModelPortali Q3B7T1.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 117548. 10 interactions.
IntActi Q3B7T1. 9 interactions.
MINTi MINT-6774634.
STRINGi 9606.ENSP00000336727.

PTM databases

PhosphoSitei Q3B7T1.

Polymorphism databases

DMDMi 109826957.

Proteomic databases

MaxQBi Q3B7T1.
PaxDbi Q3B7T1.
PRIDEi Q3B7T1.

Protocols and materials databases

Structural Biology Knowledgebase Search...

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 uc001lin.3. human. [Q3B7T1-5 ]
uc001lip.1. human. [Q3B7T1-1 ]

Organism-specific databases

CTDi 26098.
GeneCardsi GC10P127408.
HGNCi HGNC:24640. EDRF1.
HPAi HPA031820.
neXtProti NX_Q3B7T1.
PharmGKBi PA134873666.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG79617.
HOVERGENi HBG081471.
OMAi FAEFQMT.
OrthoDBi EOG7P02H4.
PhylomeDBi Q3B7T1.
TreeFami TF324739.

Miscellaneous databases

ChiTaRSi C10orf137. human.
GenomeRNAii 26098.
NextBioi 48077.
PMAP-CutDB Q3B7T1.
PROi Q3B7T1.

Gene expression databases

ArrayExpressi Q3B7T1.
Bgeei Q3B7T1.
CleanExi HS_C10orf137.
Genevestigatori Q3B7T1.

Family and domain databases

ProtoNeti Search...

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: July 9, 2014
This is version 77 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

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