PHF11_HUMAN
ID PHF11_HUMAN Reviewed; 331 AA.
AC Q9UIL8; Q5W0A4; Q5W0A6; Q9Y5A2;
DT 03-OCT-2003, integrated into UniProtKB/Swiss-Prot.
DT 22-SEP-2009, sequence version 3.
DT 03-AUG-2022, entry version 157.
DE RecName: Full=PHD finger protein 11;
DE AltName: Full=BRCA1 C-terminus-associated protein;
DE AltName: Full=Renal carcinoma antigen NY-REN-34;
GN Name=PHF11; Synonyms=BCAP;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), AND IDENTIFICATION AS A RENAL
RP CANCER ANTIGEN.
RC TISSUE=Renal cell carcinoma;
RX PubMed=10508479;
RX DOI=10.1002/(sici)1097-0215(19991112)83:4<456::aid-ijc4>3.0.co;2-5;
RA Scanlan M.J., Gordan J.D., Williamson B., Stockert E., Bander N.H.,
RA Jongeneel C.V., Gure A.O., Jaeger D., Jaeger E., Knuth A., Chen Y.-T.,
RA Old L.J.;
RT "Antigens recognized by autologous antibody in patients with renal-cell
RT carcinoma.";
RL Int. J. Cancer 83:456-464(1999).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
RA Kato H., Seki N., Seto M., Ishida M.;
RT "A BRCA1 C-terminus-associated protein BCAP is encoded at B-CLL deleted
RT region in 13q14.";
RL Submitted (FEB-1998) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15057823; DOI=10.1038/nature02379;
RA Dunham A., Matthews L.H., Burton J., Ashurst J.L., Howe K.L.,
RA Ashcroft K.J., Beare D.M., Burford D.C., Hunt S.E., Griffiths-Jones S.,
RA Jones M.C., Keenan S.J., Oliver K., Scott C.E., Ainscough R., Almeida J.P.,
RA Ambrose K.D., Andrews D.T., Ashwell R.I.S., Babbage A.K., Bagguley C.L.,
RA Bailey J., Bannerjee R., Barlow K.F., Bates K., Beasley H., Bird C.P.,
RA Bray-Allen S., Brown A.J., Brown J.Y., Burrill W., Carder C., Carter N.P.,
RA Chapman J.C., Clamp M.E., Clark S.Y., Clarke G., Clee C.M., Clegg S.C.,
RA Cobley V., Collins J.E., Corby N., Coville G.J., Deloukas P., Dhami P.,
RA Dunham I., Dunn M., Earthrowl M.E., Ellington A.G., Faulkner L.,
RA Frankish A.G., Frankland J., French L., Garner P., Garnett J.,
RA Gilbert J.G.R., Gilson C.J., Ghori J., Grafham D.V., Gribble S.M.,
RA Griffiths C., Hall R.E., Hammond S., Harley J.L., Hart E.A., Heath P.D.,
RA Howden P.J., Huckle E.J., Hunt P.J., Hunt A.R., Johnson C., Johnson D.,
RA Kay M., Kimberley A.M., King A., Laird G.K., Langford C.J., Lawlor S.,
RA Leongamornlert D.A., Lloyd D.M., Lloyd C., Loveland J.E., Lovell J.,
RA Martin S., Mashreghi-Mohammadi M., McLaren S.J., McMurray A., Milne S.,
RA Moore M.J.F., Nickerson T., Palmer S.A., Pearce A.V., Peck A.I., Pelan S.,
RA Phillimore B., Porter K.M., Rice C.M., Searle S., Sehra H.K., Shownkeen R.,
RA Skuce C.D., Smith M., Steward C.A., Sycamore N., Tester J., Thomas D.W.,
RA Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P.,
RA Whitehead S.L., Willey D.L., Wilming L., Wray P.W., Wright M.W., Young L.,
RA Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Beck S., Bentley D.R.,
RA Rogers J., Ross M.T.;
RT "The DNA sequence and analysis of human chromosome 13.";
RL Nature 428:522-528(2004).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=B-cell;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [6]
RP ALTERNATIVE SPLICING, AND ASSOCIATION WITH ASTHMA.
RX PubMed=12754510; DOI=10.1038/ng1166;
RA Zhang Y., Leaves N.I., Anderson G.G., Ponting C.P., Broxholme J., Holt R.,
RA Edser P., Bhattacharyya S., Dunham A., Adcock I.M., Pulleyn L.,
RA Barnes P.J., Harper J.I., Abecasis G., Cardon L., White M., Burton J.,
RA Matthews L., Mott R., Ross M., Cox R., Moffatt M.F., Cookson W.O.C.M.;
RT "Positional cloning of a quantitative trait locus on chromosome 13q14 that
RT influences immunoglobulin E levels and asthma.";
RL Nat. Genet. 34:181-186(2003).
RN [7]
RP ASSOCIATION WITH ATOPIC DERMATITIS.
RX PubMed=15674390; DOI=10.1038/sj.gene.6364169;
RA Jang N., Stewart G., Jones G.;
RT "Polymorphisms within the PHF11 gene at chromosome 13q14 are associated
RT with childhood atopic dermatitis.";
RL Genes Immun. 6:262-264(2005).
RN [8]
RP FUNCTION, SUBCELLULAR LOCATION, ALTERNATIVE SPLICING, TISSUE SPECIFICITY,
RP INTERACTION WITH RELA, AND ASSOCIATION WITH ASTHMA.
RX PubMed=18405956; DOI=10.1016/j.jaci.2008.02.028;
RA Clarke E., Rahman N., Page N., Rolph M.S., Stewart G.J., Jones G.J.;
RT "Functional characterization of the atopy-associated gene PHF11.";
RL J. Allergy Clin. Immunol. 121:1148-1154(2008).
CC -!- FUNCTION: Positive regulator of Th1-type cytokine gene expression.
CC {ECO:0000269|PubMed:18405956}.
CC -!- SUBUNIT: Interacts with BRCA1 and RELA. {ECO:0000269|PubMed:18405956}.
CC -!- INTERACTION:
CC Q9UIL8; P61970: NUTF2; NbExp=3; IntAct=EBI-2861403, EBI-591778;
CC Q9UIL8; O00560: SDCBP; NbExp=3; IntAct=EBI-2861403, EBI-727004;
CC Q9UIL8; Q9H0A9-2: SPATC1L; NbExp=3; IntAct=EBI-2861403, EBI-11995806;
CC Q9UIL8; Q8WW24: TEKT4; NbExp=3; IntAct=EBI-2861403, EBI-750487;
CC Q9UIL8; Q8WV44: TRIM41; NbExp=3; IntAct=EBI-2861403, EBI-725997;
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:18405956}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Comment=A number of isoforms may be produced.;
CC Name=1;
CC IsoId=Q9UIL8-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q9UIL8-2; Sequence=VSP_038088;
CC -!- TISSUE SPECIFICITY: Highly expressed in T and B-cells, as well as
CC natural killer and mature dendritic cells. Expressed at higher levels
CC in Th1 as compared to Th2 cells. Expressed at low levels in all normal
CC tissues tested, including lung, testis, small intestine, breast, liver
CC and placenta. {ECO:0000269|PubMed:18405956}.
CC -!- POLYMORPHISM: Variation in PHF11 seems to be associated with propensity
CC to childhood atopic dermatitis and asthma.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAD42871.1; Type=Frameshift; Evidence={ECO:0000305};
CC Sequence=AAH17212.2; Type=Erroneous initiation; Evidence={ECO:0000305};
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DR EMBL; AF155105; AAD42871.1; ALT_FRAME; mRNA.
DR EMBL; AB011031; BAA32101.1; -; mRNA.
DR EMBL; AL139321; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471075; EAX08828.1; -; Genomic_DNA.
DR EMBL; BC017212; AAH17212.2; ALT_INIT; mRNA.
DR CCDS; CCDS31975.1; -. [Q9UIL8-1]
DR CCDS; CCDS41887.1; -. [Q9UIL8-2]
DR RefSeq; NP_001035533.1; NM_001040443.2. [Q9UIL8-1]
DR RefSeq; NP_001035534.1; NM_001040444.2. [Q9UIL8-2]
DR AlphaFoldDB; Q9UIL8; -.
DR SMR; Q9UIL8; -.
DR BioGRID; 119318; 141.
DR IntAct; Q9UIL8; 14.
DR STRING; 9606.ENSP00000367570; -.
DR iPTMnet; Q9UIL8; -.
DR PhosphoSitePlus; Q9UIL8; -.
DR BioMuta; PHF11; -.
DR DMDM; 259016330; -.
DR EPD; Q9UIL8; -.
DR jPOST; Q9UIL8; -.
DR MassIVE; Q9UIL8; -.
DR MaxQB; Q9UIL8; -.
DR PaxDb; Q9UIL8; -.
DR PeptideAtlas; Q9UIL8; -.
DR PRIDE; Q9UIL8; -.
DR ProteomicsDB; 84548; -. [Q9UIL8-1]
DR ProteomicsDB; 84549; -. [Q9UIL8-2]
DR Antibodypedia; 9539; 197 antibodies from 30 providers.
DR DNASU; 51131; -.
DR Ensembl; ENST00000357596.7; ENSP00000350209.3; ENSG00000136147.18. [Q9UIL8-2]
DR Ensembl; ENST00000378319.8; ENSP00000367570.3; ENSG00000136147.18. [Q9UIL8-1]
DR Ensembl; ENST00000488958.5; ENSP00000417539.1; ENSG00000136147.18. [Q9UIL8-2]
DR GeneID; 51131; -.
DR KEGG; hsa:51131; -.
DR MANE-Select; ENST00000378319.8; ENSP00000367570.3; NM_001040443.3; NP_001035533.1.
DR UCSC; uc001vdb.4; human. [Q9UIL8-1]
DR CTD; 51131; -.
DR DisGeNET; 51131; -.
DR GeneCards; PHF11; -.
DR HGNC; HGNC:17024; PHF11.
DR HPA; ENSG00000136147; Low tissue specificity.
DR MIM; 147050; phenotype.
DR MIM; 607796; gene.
DR neXtProt; NX_Q9UIL8; -.
DR OpenTargets; ENSG00000136147; -.
DR PharmGKB; PA134947696; -.
DR VEuPathDB; HostDB:ENSG00000136147; -.
DR eggNOG; KOG1084; Eukaryota.
DR GeneTree; ENSGT00950000182865; -.
DR HOGENOM; CLU_076108_0_0_1; -.
DR InParanoid; Q9UIL8; -.
DR OMA; IYKLFCQ; -.
DR PhylomeDB; Q9UIL8; -.
DR TreeFam; TF325426; -.
DR PathwayCommons; Q9UIL8; -.
DR SignaLink; Q9UIL8; -.
DR BioGRID-ORCS; 51131; 10 hits in 1082 CRISPR screens.
DR GenomeRNAi; 51131; -.
DR Pharos; Q9UIL8; Tbio.
DR PRO; PR:Q9UIL8; -.
DR Proteomes; UP000005640; Chromosome 13.
DR RNAct; Q9UIL8; protein.
DR Bgee; ENSG00000136147; Expressed in left lobe of thyroid gland and 193 other tissues.
DR ExpressionAtlas; Q9UIL8; baseline and differential.
DR Genevisible; Q9UIL8; HS.
DR GO; GO:0031965; C:nuclear membrane; IDA:HPA.
DR GO; GO:0005654; C:nucleoplasm; IDA:HPA.
DR GO; GO:0005634; C:nucleus; IBA:GO_Central.
DR GO; GO:0046872; F:metal ion binding; IEA:UniProtKB-KW.
DR Gene3D; 3.30.40.10; -; 1.
DR InterPro; IPR034732; EPHD.
DR InterPro; IPR011011; Znf_FYVE_PHD.
DR InterPro; IPR001965; Znf_PHD.
DR InterPro; IPR013083; Znf_RING/FYVE/PHD.
DR SMART; SM00249; PHD; 1.
DR SUPFAM; SSF57903; SSF57903; 1.
DR PROSITE; PS51805; EPHD; 1.
PE 1: Evidence at protein level;
KW Activator; Alternative splicing; Metal-binding; Nucleus;
KW Reference proteome; Transcription; Transcription regulation; Zinc;
KW Zinc-finger.
FT CHAIN 1..331
FT /note="PHD finger protein 11"
FT /id="PRO_0000059301"
FT ZN_FING 42..78
FT /note="C2HC pre-PHD-type"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01146"
FT ZN_FING 108..160
FT /note="PHD-type"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01146"
FT VAR_SEQ 1..39
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:10508479"
FT /id="VSP_038088"
SQ SEQUENCE 331 AA; 37582 MW; AD50E4344A8A9FB1 CRC64;
MAQASPPRPE RVLGASSPEA RPAQEALLLP TGVFQVAEKM EKRTCALCPK DVEYNVLYFA
QSENIAAHEN CLLYSSGLVE CEDQDPLNPD RSFDVESVKK EIQRGRKLKC KFCHKRGATV
GCDLKNCNKN YHFFCAKKDD AVPQSDGVRG IYKLLCQQHA QFPIIAQSAK FSGVKRKRGR
KKPLSGNHVQ PPETMKCNTF IRQVKEEHGR HTDATVKVPF LKKCKEAGLL NYLLEEILDK
VHSIPEKLMD ETTSESDYEE IGSALFDCRL FEDTFVNFQA AIEKKIHASQ QRWQQLKEEI
ELLQDLKQTL CSFQENRDLM SSSTSISSLS Y
