Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Basket 0
(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

Q3B7T1

- EDRF1_HUMAN

UniProt

Q3B7T1 - EDRF1_HUMAN

Protein

Erythroid differentiation-related factor 1

Gene

EDRF1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5- Experimental evidence at protein leveli
    • BLAST
    • Align
    • Format
    • Add to basket
    • History
      Entry version 78 (01 Oct 2014)
      Sequence version 1 (22 Nov 2005)
      Previous versions | rss
    • Help video
    • Feedback
    • Comment

    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

    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

    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

    ArrayExpressiQ3B7T1.
    BgeeiQ3B7T1.
    CleanExiHS_C10orf137.
    GenevestigatoriQ3B7T1.

    Organism-specific databases

    HPAiHPA031820.

    Interactioni

    Protein-protein interaction databases

    BioGridi117548. 10 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.
    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.

    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:
    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. 11 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

    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: October 1, 2014
    This is version 78 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