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Q9H1B7

- I2BPL_HUMAN

UniProt

Q9H1B7 - I2BPL_HUMAN

Protein

Interferon regulatory factor 2-binding protein-like

Gene

IRF2BPL

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 109 (01 Oct 2014)
      Sequence version 1 (01 Mar 2001)
      Previous versions | rss
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    Functioni

    May contribute to the control of female reproductive function By similarity. May play a role in gene transcription by transactivating GNRH1 promoter and repressing PENK promoter.By similarity

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Zinc fingeri715 – 76248RING-type; degenerateAdd
    BLAST

    GO - Molecular functioni

    1. metal ion binding Source: UniProtKB-KW

    GO - Biological processi

    1. development of secondary female sexual characteristics Source: ParkinsonsUK-UCL
    2. negative regulation of transcription from RNA polymerase II promoter Source: ParkinsonsUK-UCL
    3. positive regulation of transcription from RNA polymerase II promoter Source: ParkinsonsUK-UCL

    Keywords - Ligandi

    Metal-binding, Zinc

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Interferon regulatory factor 2-binding protein-like
    Alternative name(s):
    Enhanced at puberty protein 1
    Gene namesi
    Name:IRF2BPL
    Synonyms:C14orf4, EAP1, KIAA1865
    ORF Names:My039
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 14

    Organism-specific databases

    HGNCiHGNC:14282. IRF2BPL.

    Subcellular locationi

    Nucleus By similarity

    GO - Cellular componenti

    1. extracellular space Source: UniProt
    2. nucleus Source: UniProtKB

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Mutagenesis

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Mutagenesisi715 – 7151C → A: Loss of transcription activity. 1 Publication

    Organism-specific databases

    PharmGKBiPA25516.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 796796Interferon regulatory factor 2-binding protein-likePRO_0000056411Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei547 – 5471Phosphoserine3 Publications
    Modified residuei657 – 6571Phosphoserine2 Publications
    Modified residuei658 – 6581Phosphoserine1 Publication
    Modified residuei659 – 6591Phosphoserine3 Publications
    Modified residuei662 – 6621Phosphoserine5 Publications

    Keywords - PTMi

    Phosphoprotein

    Proteomic databases

    MaxQBiQ9H1B7.
    PaxDbiQ9H1B7.
    PeptideAtlasiQ9H1B7.
    PRIDEiQ9H1B7.

    PTM databases

    PhosphoSiteiQ9H1B7.

    Miscellaneous databases

    PMAP-CutDBQ9H1B7.

    Expressioni

    Tissue specificityi

    Highly expressed in the heart, moderately in skeletal muscle and pancreas, and weakly in brain, kidney, liver, testis, thyroid gland and lymphocytes.1 Publication

    Gene expression databases

    BgeeiQ9H1B7.
    CleanExiHS_C14orf4.
    GenevestigatoriQ9H1B7.

    Organism-specific databases

    HPAiHPA050862.

    Interactioni

    Protein-protein interaction databases

    BioGridi122101. 14 interactions.
    IntActiQ9H1B7. 3 interactions.
    STRINGi9606.ENSP00000238647.

    Structurei

    Secondary structure

    1
    796
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Beta strandi716 – 7183
    Beta strandi727 – 7293
    Helixi740 – 75112
    Beta strandi752 – 7543
    Beta strandi767 – 7726
    Helixi777 – 7848

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    2B9Gmodel-A708-771[»]
    2CS3NMR-A705-784[»]
    ProteinModelPortaliQ9H1B7.
    SMRiQ9H1B7. Positions 706-786.
    ModBaseiSearch...
    MobiDBiSearch...

    Miscellaneous databases

    EvolutionaryTraceiQ9H1B7.

    Family & Domainsi

    Coiled coil

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Coiled coili85 – 13248Sequence AnalysisAdd
    BLAST
    Coiled coili335 – 37137Sequence AnalysisAdd
    BLAST

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi88 – 10215Poly-AlaAdd
    BLAST
    Compositional biasi103 – 12725Poly-GlnAdd
    BLAST
    Compositional biasi153 – 16412Poly-AlaAdd
    BLAST
    Compositional biasi174 – 296123Gly/Pro-richAdd
    BLAST
    Compositional biasi596 – 62328Pro-richAdd
    BLAST

    Sequence similaritiesi

    Belongs to the IRF2BP family.Curated
    Contains 1 RING-type zinc finger.Curated

    Zinc finger

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Zinc fingeri715 – 76248RING-type; degenerateAdd
    BLAST

    Keywords - Domaini

    Coiled coil, Zinc-finger

    Phylogenomic databases

    eggNOGiNOG325224.
    HOVERGENiHBG108364.
    InParanoidiQ9H1B7.
    OMAiQNGPSPM.
    OrthoDBiEOG7673CH.
    PhylomeDBiQ9H1B7.
    TreeFamiTF317075.

    Family and domain databases

    InterProiIPR022750. Interferon_reg_fac2-bd1_2_Znf.
    [Graphical view]
    PfamiPF11261. IRF-2BP1_2. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    Q9H1B7-1 [UniParc]FASTAAdd to Basket

    « Hide

    MSAAQVSSSR RQSCYLCDLP RMPWAMIWDF SEPVCRGCVN YEGADRIEFV    50
    IETARQLKRA HGCFQDGRSP GPPPPVGVKT VALSAKEAAA AAAAAAAAAA 100
    AAQQQQQQQQ QQQQQQQQQQ QQQQQQQLNH VDGSSKPAVL AAPSGLERYG 150
    LSAAAAAAAA AAAAVEQRSR FEYPPPPVSL GSSSHTARLP NGLGGPNGFP 200
    KPTPEEGPPE LNRQSPNSSS AAASVASRRG THGGLVTGLP NPGGGGGPQL 250
    TVPPNLLPQT LLNGPASAAV LPPPPPHALG SRGPPTPAPP GAPGGPACLG 300
    GTPGVSATSS SASSSTSSSV AEVGVGAGGK RPGSVSSTDQ ERELKEKQRN 350
    AEALAELSES LRNRAEEWAS KPKMVRDTLL TLAGCTPYEV RFKKDHSLLG 400
    RVFAFDAVSK PGMDYELKLF IEYPTGSGNV YSSASGVAKQ MYQDCMKDFG 450
    RGLSSGFKYL EYEKKHGSGD WRLLGDLLPE AVRFFKEGVP GADMLPQPYL 500
    DASCPMLPTA LVSLSRAPSA PPGTGALPPA APSGRGAAAS LRKRKASPEP 550
    PDSAEGALKL GEEQQRQQWM ANQSEALKLT MSAGGFAAPG HAAGGPPPPP 600
    PPLGPHSNRT TPPESAPQNG PSPMAALMSV ADTLGTAHSP KDGSSVHSTT 650
    ASARRNSSSP VSPASVPGQR RLASRNGDLN LQVAPPPPSA HPGMDQVHPQ 700
    NIPDSPMANS GPLCCTICHE RLEDTHFVQC PSVPSHKFCF PCSRESIKAQ 750
    GATGEVYCPS GEKCPLVGSN VPWAFMQGEI ATILAGDVKV KKERDP 796
    Length:796
    Mass (Da):82,659
    Last modified:March 1, 2001 - v1
    Checksum:iDCF7898F15AD6A37
    GO

    Sequence cautioni

    The sequence BAB47494.1 differs from that shown. Reason: Aberrant splicing.

    Polymorphismi

    The poly-Gln region is polymorphic; the most frequent allele contained 24 Gln. Stretches of 20-31 Gln are observed in healthy individuals.

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AJ277365 Genomic DNA. Translation: CAC10539.1.
    AC007686 Genomic DNA. No translation available.
    AB058768 mRNA. Translation: BAB47494.1. Sequence problems.
    AL832320 mRNA. Translation: CAD38615.1.
    AF063597 mRNA. Translation: AAG43156.1.
    CCDSiCCDS9854.1.
    PIRiJC7555.
    RefSeqiNP_078772.1. NM_024496.3.
    UniGeneiHs.179260.
    Hs.745194.

    Genome annotation databases

    EnsembliENST00000238647; ENSP00000238647; ENSG00000119669.
    GeneIDi64207.
    KEGGihsa:64207.
    UCSCiuc001xsy.4. human.

    Polymorphism databases

    DMDMi34395562.

    Keywords - Coding sequence diversityi

    Polymorphism, Triplet repeat expansion

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AJ277365 Genomic DNA. Translation: CAC10539.1 .
    AC007686 Genomic DNA. No translation available.
    AB058768 mRNA. Translation: BAB47494.1 . Sequence problems.
    AL832320 mRNA. Translation: CAD38615.1 .
    AF063597 mRNA. Translation: AAG43156.1 .
    CCDSi CCDS9854.1.
    PIRi JC7555.
    RefSeqi NP_078772.1. NM_024496.3.
    UniGenei Hs.179260.
    Hs.745194.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    2B9G model - A 708-771 [» ]
    2CS3 NMR - A 705-784 [» ]
    ProteinModelPortali Q9H1B7.
    SMRi Q9H1B7. Positions 706-786.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 122101. 14 interactions.
    IntActi Q9H1B7. 3 interactions.
    STRINGi 9606.ENSP00000238647.

    PTM databases

    PhosphoSitei Q9H1B7.

    Polymorphism databases

    DMDMi 34395562.

    Proteomic databases

    MaxQBi Q9H1B7.
    PaxDbi Q9H1B7.
    PeptideAtlasi Q9H1B7.
    PRIDEi Q9H1B7.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000238647 ; ENSP00000238647 ; ENSG00000119669 .
    GeneIDi 64207.
    KEGGi hsa:64207.
    UCSCi uc001xsy.4. human.

    Organism-specific databases

    CTDi 64207.
    GeneCardsi GC14M077491.
    H-InvDB HIX0011839.
    HGNCi HGNC:14282. IRF2BPL.
    HPAi HPA050862.
    MIMi 611720. gene.
    neXtProti NX_Q9H1B7.
    PharmGKBi PA25516.
    HUGEi Search...
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG325224.
    HOVERGENi HBG108364.
    InParanoidi Q9H1B7.
    OMAi QNGPSPM.
    OrthoDBi EOG7673CH.
    PhylomeDBi Q9H1B7.
    TreeFami TF317075.

    Miscellaneous databases

    EvolutionaryTracei Q9H1B7.
    GeneWikii C14orf4.
    GenomeRNAii 64207.
    NextBioi 66107.
    PMAP-CutDB Q9H1B7.
    PROi Q9H1B7.
    SOURCEi Search...

    Gene expression databases

    Bgeei Q9H1B7.
    CleanExi HS_C14orf4.
    Genevestigatori Q9H1B7.

    Family and domain databases

    InterProi IPR022750. Interferon_reg_fac2-bd1_2_Znf.
    [Graphical view ]
    Pfami PF11261. IRF-2BP1_2. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Characterization of C14orf4, a novel intronless human gene containing a polyglutamine repeat, mapped to the ARVD1 critical region."
      Rampazzo A., Pivotto F., Occhi G., Tiso N., Bortoluzzi S., Rowen L., Hood L., Nava A., Danieli G.A.
      Biochem. Biophys. Res. Commun. 278:766-774(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], TISSUE SPECIFICITY, TRIPLET REPEAT EXPANSION.
    2. "The DNA sequence and analysis of human chromosome 14."
      Heilig R., Eckenberg R., Petit J.-L., Fonknechten N., Da Silva C., Cattolico L., Levy M., Barbe V., De Berardinis V., Ureta-Vidal A., Pelletier E., Vico V., Anthouard V., Rowen L., Madan A., Qin S., Sun H., Du H.
      , Pepin K., Artiguenave F., Robert C., Cruaud C., Bruels T., Jaillon O., Friedlander L., Samson G., Brottier P., Cure S., Segurens B., Aniere F., Samain S., Crespeau H., Abbasi N., Aiach N., Boscus D., Dickhoff R., Dors M., Dubois I., Friedman C., Gouyvenoux M., James R., Madan A., Mairey-Estrada B., Mangenot S., Martins N., Menard M., Oztas S., Ratcliffe A., Shaffer T., Trask B., Vacherie B., Bellemere C., Belser C., Besnard-Gonnet M., Bartol-Mavel D., Boutard M., Briez-Silla S., Combette S., Dufosse-Laurent V., Ferron C., Lechaplais C., Louesse C., Muselet D., Magdelenat G., Pateau E., Petit E., Sirvain-Trukniewicz P., Trybou A., Vega-Czarny N., Bataille E., Bluet E., Bordelais I., Dubois M., Dumont C., Guerin T., Haffray S., Hammadi R., Muanga J., Pellouin V., Robert D., Wunderle E., Gauguet G., Roy A., Sainte-Marthe L., Verdier J., Verdier-Discala C., Hillier L.W., Fulton L., McPherson J., Matsuda F., Wilson R., Scarpelli C., Gyapay G., Wincker P., Saurin W., Quetier F., Waterston R., Hood L., Weissenbach J.
      Nature 421:601-607(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    3. "Prediction of the coding sequences of unidentified human genes. XX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro."
      Nagase T., Nakayama M., Nakajima D., Kikuno R., Ohara O.
      DNA Res. 8:85-95(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Tissue: Brain.
    4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 332-796.
      Tissue: Fetal brain.
    5. Mao Y.M., Xie Y., Zheng Z.H.
      Submitted (MAY-1998) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 694-796.
      Tissue: Fetal brain.
    6. "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks."
      Olsen J.V., Blagoev B., Gnad F., Macek B., Kumar C., Mortensen P., Mann M.
      Cell 127:635-648(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    7. "A probability-based approach for high-throughput protein phosphorylation analysis and site localization."
      Beausoleil S.A., Villen J., Gerber S.A., Rush J., Gygi S.P.
      Nat. Biotechnol. 24:1285-1292(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-662, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    8. "Enhanced at puberty 1 (EAP1) is a new transcriptional regulator of the female neuroendocrine reproductive axis."
      Heger S., Mastronardi C., Dissen G.A., Lomniczi A., Cabrera R., Roth C.L., Jung H., Galimi F., Sippell W., Ojeda S.R.
      J. Clin. Invest. 117:2145-2154(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: MUTAGENESIS OF CYS-715.
    9. "Combining protein-based IMAC, peptide-based IMAC, and MudPIT for efficient phosphoproteomic analysis."
      Cantin G.T., Yi W., Lu B., Park S.K., Xu T., Lee J.-D., Yates J.R. III
      J. Proteome Res. 7:1346-1351(2008) [PubMed] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-662, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    10. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-547; SER-657; SER-658; SER-659 AND SER-662, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    11. "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach."
      Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S.
      Anal. Chem. 81:4493-4501(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    12. "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."
      Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K.
      Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-547; SER-657; SER-659 AND SER-662, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Leukemic T-cell.
    13. "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
      Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.
      Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    14. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    15. "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."
      Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B.
      Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-547; SER-659 AND SER-662, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    16. "Solution structure of the ZF-C3HC4 domain of human KIAA1865."
      RIKEN structural genomics initiative (RSGI)
      Submitted (NOV-2005) to the PDB data bank
      Cited for: STRUCTURE BY NMR OF 705-786.
    17. "In silico analysis identifies a C3HC4-RING finger domain of a putative E3 ubiquitin-protein ligase located at the C-terminus of a polyglutamine-containing protein."
      Scior T., Luna F., Koch W., Sanchez-Ruiz J.F.
      Braz. J. Med. Biol. Res. 40:293-299(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: 3D-STRUCTURE MODELING OF 708-771, RING FINGER.

    Entry informationi

    Entry nameiI2BPL_HUMAN
    AccessioniPrimary (citable) accession number: Q9H1B7
    Secondary accession number(s): Q8NDQ2, Q96JG2, Q9H3I7
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: August 29, 2003
    Last sequence update: March 1, 2001
    Last modified: October 1, 2014
    This is version 109 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

    3D-structure, Complete proteome, Reference proteome

    Documents

    1. Human chromosome 14
      Human chromosome 14: entries, gene names and cross-references to MIM
    2. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    3. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references
    4. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3