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Protein

Interferon regulatory factor 2-binding protein-like

Gene

IRF2BPL

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: 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.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
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 Componenti: Chromosome 14

Organism-specific databases

HGNCiHGNC:14282. IRF2BPL.

Subcellular locationi

  1. Nucleus By similarity

GO - Cellular componenti

  1. extracellular space Source: UniProtKB
  2. nucleoplasm Source: HPA
  3. 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.

Polymorphism and mutation databases

BioMutaiIRF2BPL.
DMDMi34395562.

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 residuei215 – 2151Phosphoserine1 Publication
Modified residuei519 – 5191Phosphoserine1 Publication
Modified residuei547 – 5471Phosphoserine4 Publications
Modified residuei657 – 6571Phosphoserine3 Publications
Modified residuei658 – 6581Phosphoserine1 Publication
Modified residuei659 – 6591Phosphoserine4 Publications
Modified residuei662 – 6621Phosphoserine6 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.
HPA061333.

Interactioni

Protein-protein interaction databases

BioGridi122101. 16 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 – 7183Combined sources
Beta strandi727 – 7293Combined sources
Helixi740 – 75112Combined sources
Beta strandi752 – 7543Combined sources
Beta strandi767 – 7726Combined sources
Helixi777 – 7848Combined sources

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
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.
GeneTreeiENSGT00390000005089.
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

        10         20         30         40         50
MSAAQVSSSR RQSCYLCDLP RMPWAMIWDF SEPVCRGCVN YEGADRIEFV
60 70 80 90 100
IETARQLKRA HGCFQDGRSP GPPPPVGVKT VALSAKEAAA AAAAAAAAAA
110 120 130 140 150
AAQQQQQQQQ QQQQQQQQQQ QQQQQQQLNH VDGSSKPAVL AAPSGLERYG
160 170 180 190 200
LSAAAAAAAA AAAAVEQRSR FEYPPPPVSL GSSSHTARLP NGLGGPNGFP
210 220 230 240 250
KPTPEEGPPE LNRQSPNSSS AAASVASRRG THGGLVTGLP NPGGGGGPQL
260 270 280 290 300
TVPPNLLPQT LLNGPASAAV LPPPPPHALG SRGPPTPAPP GAPGGPACLG
310 320 330 340 350
GTPGVSATSS SASSSTSSSV AEVGVGAGGK RPGSVSSTDQ ERELKEKQRN
360 370 380 390 400
AEALAELSES LRNRAEEWAS KPKMVRDTLL TLAGCTPYEV RFKKDHSLLG
410 420 430 440 450
RVFAFDAVSK PGMDYELKLF IEYPTGSGNV YSSASGVAKQ MYQDCMKDFG
460 470 480 490 500
RGLSSGFKYL EYEKKHGSGD WRLLGDLLPE AVRFFKEGVP GADMLPQPYL
510 520 530 540 550
DASCPMLPTA LVSLSRAPSA PPGTGALPPA APSGRGAAAS LRKRKASPEP
560 570 580 590 600
PDSAEGALKL GEEQQRQQWM ANQSEALKLT MSAGGFAAPG HAAGGPPPPP
610 620 630 640 650
PPLGPHSNRT TPPESAPQNG PSPMAALMSV ADTLGTAHSP KDGSSVHSTT
660 670 680 690 700
ASARRNSSSP VSPASVPGQR RLASRNGDLN LQVAPPPPSA HPGMDQVHPQ
710 720 730 740 750
NIPDSPMANS GPLCCTICHE RLEDTHFVQC PSVPSHKFCF PCSRESIKAQ
760 770 780 790
GATGEVYCPS GEKCPLVGSN VPWAFMQGEI ATILAGDVKV KKERDP
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.Aberrant splicing.Curated

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:
EMBLi
GenBanki
DDBJi
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 and mutation databases

BioMutaiIRF2BPL.

Keywords - Coding sequence diversityi

Polymorphism, Triplet repeat expansion

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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.

3D structure databases

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

Protein-protein interaction databases

BioGridi122101. 16 interactions.
IntActiQ9H1B7. 3 interactions.
STRINGi9606.ENSP00000238647.

PTM databases

PhosphoSiteiQ9H1B7.

Polymorphism and mutation databases

BioMutaiIRF2BPL.
DMDMi34395562.

Proteomic databases

MaxQBiQ9H1B7.
PaxDbiQ9H1B7.
PeptideAtlasiQ9H1B7.
PRIDEiQ9H1B7.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi64207.
GeneCardsiGC14M077491.
H-InvDBHIX0011839.
HGNCiHGNC:14282. IRF2BPL.
HPAiHPA050862.
HPA061333.
MIMi611720. gene.
neXtProtiNX_Q9H1B7.
PharmGKBiPA25516.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG325224.
GeneTreeiENSGT00390000005089.
HOVERGENiHBG108364.
InParanoidiQ9H1B7.
OMAiQNGPSPM.
OrthoDBiEOG7673CH.
PhylomeDBiQ9H1B7.
TreeFamiTF317075.

Miscellaneous databases

EvolutionaryTraceiQ9H1B7.
GeneWikiiC14orf4.
GenomeRNAii64207.
NextBioi66107.
PMAP-CutDBQ9H1B7.
PROiQ9H1B7.
SOURCEiSearch...

Gene expression databases

BgeeiQ9H1B7.
CleanExiHS_C14orf4.
GenevestigatoriQ9H1B7.

Family and domain databases

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

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. "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome."
    Bian Y., Song C., Cheng K., Dong M., Wang F., Huang J., Sun D., Wang L., Ye M., Zou H.
    J. Proteomics 96:253-262(2014) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-215; SER-519; SER-547; SER-657; SER-659 AND SER-662, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Liver.
  17. "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.
  18. "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: April 29, 2015
This is version 115 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.