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Q9H1B7

- I2BPL_HUMAN

UniProt

Q9H1B7 - I2BPL_HUMAN

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Protein
Interferon regulatory factor 2-binding protein-like
Gene
IRF2BPL, C14orf4, EAP1, KIAA1865, My039
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

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.

Regions

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

GO - Molecular functioni

  1. metal ion binding Source: UniProtKB-KW
Complete GO annotation...

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
Complete GO annotation...

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
Complete GO annotation...

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-like
PRO_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

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.

Miscellaneous databases

EvolutionaryTraceiQ9H1B7.

Family & Domainsi

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili85 – 13248 Reviewed prediction
Add
BLAST
Coiled coili335 – 37137 Reviewed prediction
Add
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi88 – 10215Poly-Ala
Add
BLAST
Compositional biasi103 – 12725Poly-Gln
Add
BLAST
Compositional biasi153 – 16412Poly-Ala
Add
BLAST
Compositional biasi174 – 296123Gly/Pro-rich
Add
BLAST
Compositional biasi596 – 62328Pro-rich
Add
BLAST

Sequence similaritiesi

Belongs to the IRF2BP family.

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...

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

« Hide 'large scale' publications
  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: July 9, 2014
This is version 108 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

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