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Q9H1B7 (I2BPL_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified March 19, 2014. Version 106. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (4) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Interferon regulatory factor 2-binding protein-like
Alternative name(s):
Enhanced at puberty protein 1
Gene names
Name:IRF2BPL
Synonyms:C14orf4, EAP1, KIAA1865
ORF Names:My039
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length796 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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.

Subcellular location

Nucleus By similarity.

Tissue specificity

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

Polymorphism

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

Sequence similarities

Belongs to the IRF2BP family.

Contains 1 RING-type zinc finger.

Sequence caution

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

Ontologies

Keywords
   Cellular componentNucleus
   Coding sequence diversityPolymorphism
Triplet repeat expansion
   DomainCoiled coil
Zinc-finger
   LigandMetal-binding
Zinc
   PTMPhosphoprotein
   Technical term3D-structure
Complete proteome
Reference proteome
Gene Ontology (GO)
   Cellular_componentextracellular space

Inferred from direct assay PubMed 22664934. Source: UniProt

nucleus

Non-traceable author statement Ref.1. Source: UniProtKB

   Molecular_functionmetal ion binding

Inferred from electronic annotation. Source: UniProtKB-KW

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 796796Interferon regulatory factor 2-binding protein-like
PRO_0000056411

Regions

Zinc finger715 – 76248RING-type; degenerate
Coiled coil85 – 13248 Potential
Coiled coil335 – 37137 Potential
Compositional bias88 – 10215Poly-Ala
Compositional bias103 – 12725Poly-Gln
Compositional bias153 – 16412Poly-Ala
Compositional bias174 – 296123Gly/Pro-rich
Compositional bias596 – 62328Pro-rich

Amino acid modifications

Modified residue5471Phosphoserine Ref.10 Ref.12 Ref.15
Modified residue6571Phosphoserine Ref.10 Ref.12
Modified residue6581Phosphoserine Ref.10
Modified residue6591Phosphoserine Ref.10 Ref.12 Ref.15
Modified residue6621Phosphoserine Ref.7 Ref.9 Ref.10 Ref.12 Ref.15

Experimental info

Mutagenesis7151C → A: Loss of transcription activity. Ref.8

Secondary structure

............ 796
Helix Strand Turn

Details...

Sequences

Sequence LengthMass (Da)Tools
Q9H1B7 [UniParc].

Last modified March 1, 2001. Version 1.
Checksum: DCF7898F15AD6A37

FASTA79682,659
        10         20         30         40         50         60 
MSAAQVSSSR RQSCYLCDLP RMPWAMIWDF SEPVCRGCVN YEGADRIEFV IETARQLKRA 

        70         80         90        100        110        120 
HGCFQDGRSP GPPPPVGVKT VALSAKEAAA AAAAAAAAAA AAQQQQQQQQ QQQQQQQQQQ 

       130        140        150        160        170        180 
QQQQQQQLNH VDGSSKPAVL AAPSGLERYG LSAAAAAAAA AAAAVEQRSR FEYPPPPVSL 

       190        200        210        220        230        240 
GSSSHTARLP NGLGGPNGFP KPTPEEGPPE LNRQSPNSSS AAASVASRRG THGGLVTGLP 

       250        260        270        280        290        300 
NPGGGGGPQL TVPPNLLPQT LLNGPASAAV LPPPPPHALG SRGPPTPAPP GAPGGPACLG 

       310        320        330        340        350        360 
GTPGVSATSS SASSSTSSSV AEVGVGAGGK RPGSVSSTDQ ERELKEKQRN AEALAELSES 

       370        380        390        400        410        420 
LRNRAEEWAS KPKMVRDTLL TLAGCTPYEV RFKKDHSLLG RVFAFDAVSK PGMDYELKLF 

       430        440        450        460        470        480 
IEYPTGSGNV YSSASGVAKQ MYQDCMKDFG RGLSSGFKYL EYEKKHGSGD WRLLGDLLPE 

       490        500        510        520        530        540 
AVRFFKEGVP GADMLPQPYL DASCPMLPTA LVSLSRAPSA PPGTGALPPA APSGRGAAAS 

       550        560        570        580        590        600 
LRKRKASPEP PDSAEGALKL GEEQQRQQWM ANQSEALKLT MSAGGFAAPG HAAGGPPPPP 

       610        620        630        640        650        660 
PPLGPHSNRT TPPESAPQNG PSPMAALMSV ADTLGTAHSP KDGSSVHSTT ASARRNSSSP 

       670        680        690        700        710        720 
VSPASVPGQR RLASRNGDLN LQVAPPPPSA HPGMDQVHPQ NIPDSPMANS GPLCCTICHE 

       730        740        750        760        770        780 
RLEDTHFVQC PSVPSHKFCF PCSRESIKAQ GATGEVYCPS GEKCPLVGSN VPWAFMQGEI 

       790 
ATILAGDVKV KKERDP 

« Hide

References

« Hide 'large scale' references
[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. expand/collapse author list , 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]"The full-ORF clone resource of the German cDNA consortium."
Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I.
BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract]
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]"A quantitative atlas of mitotic phosphorylation."
Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P.
Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract]
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]"Initial characterization of the human central proteome."
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
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.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
PIRJC7555.
RefSeqNP_078772.1. NM_024496.3.
UniGeneHs.179260.
Hs.745194.

3D structure databases

PDBe
RCSB PDB
PDBj
EntryMethodResolution (Å)ChainPositionsPDBsum
2B9Gmodel-A708-771[»]
2CS3NMR-A705-784[»]
ProteinModelPortalQ9H1B7.
SMRQ9H1B7. Positions 706-786.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid122101. 14 interactions.
IntActQ9H1B7. 3 interactions.
STRING9606.ENSP00000238647.

PTM databases

PhosphoSiteQ9H1B7.

Polymorphism databases

DMDM34395562.

Proteomic databases

PaxDbQ9H1B7.
PeptideAtlasQ9H1B7.
PRIDEQ9H1B7.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000238647; ENSP00000238647; ENSG00000119669.
GeneID64207.
KEGGhsa:64207.
UCSCuc001xsy.4. human.

Organism-specific databases

CTD64207.
GeneCardsGC14M077491.
H-InvDBHIX0011839.
HGNCHGNC:14282. IRF2BPL.
HPAHPA050862.
MIM611720. gene.
neXtProtNX_Q9H1B7.
PharmGKBPA25516.
HUGESearch...
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG325224.
HOVERGENHBG108364.
InParanoidQ9H1B7.
OMAQNGPSPM.
OrthoDBEOG7673CH.
PhylomeDBQ9H1B7.
TreeFamTF317075.

Gene expression databases

BgeeQ9H1B7.
CleanExHS_C14orf4.
GenevestigatorQ9H1B7.

Family and domain databases

InterProIPR022750. Interferon_reg_fac2-bd1_2_Znf.
[Graphical view]
PfamPF11261. IRF-2BP1_2. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

EvolutionaryTraceQ9H1B7.
GeneWikiC14orf4.
GenomeRNAi64207.
NextBio66107.
PMAP-CutDBQ9H1B7.
PROQ9H1B7.
SOURCESearch...

Entry information

Entry nameI2BPL_HUMAN
AccessionPrimary (citable) accession number: Q9H1B7
Secondary accession number(s): Q8NDQ2, Q96JG2, Q9H3I7
Entry history
Integrated into UniProtKB/Swiss-Prot: August 29, 2003
Last sequence update: March 1, 2001
Last modified: March 19, 2014
This is version 106 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

PDB cross-references

Index of Protein Data Bank (PDB) cross-references

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human chromosome 14

Human chromosome 14: entries, gene names and cross-references to MIM