PHF7_HUMAN
ID PHF7_HUMAN Reviewed; 381 AA.
AC Q9BWX1; K4DI82;
DT 26-APR-2005, integrated into UniProtKB/Swiss-Prot.
DT 01-JUN-2001, sequence version 1.
DT 03-AUG-2022, entry version 155.
DE RecName: Full=PHD finger protein 7;
DE AltName: Full=Testis development protein NYD-SP6;
GN Name=PHF7;
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 1), SUBCELLULAR LOCATION, AND TISSUE
RP SPECIFICITY.
RC TISSUE=Testis;
RX PubMed=11829468; DOI=10.1006/bbrc.2002.6396;
RA Xiao J., Xu M., Li J., Chang Chan H., Lin M., Zhu H., Zhang W., Zhou Z.,
RA Zhao B., Sha J.H.;
RT "NYD-SP6, a novel gene potentially involved in regulating testicular
RT development/spermatogenesis.";
RL Biochem. Biophys. Res. Commun. 291:101-110(2002).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16641997; DOI=10.1038/nature04728;
RA Muzny D.M., Scherer S.E., Kaul R., Wang J., Yu J., Sudbrak R., Buhay C.J.,
RA Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P.,
RA Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J., Jackson A.,
RA Khan Z.M., Kovar-Smith C., Lewis L.R., Lozado R.J., Metzker M.L.,
RA Milosavljevic A., Miner G.R., Morgan M.B., Nazareth L.V., Scott G.,
RA Sodergren E., Song X.-Z., Steffen D., Wei S., Wheeler D.A., Wright M.W.,
RA Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M.,
RA Brown M.J., Chen G., Chen Z., Clendenning J., Clerc-Blankenburg K.P.,
RA Chen R., Chen Z., Davis C., Delgado O., Dinh H.H., Dong W., Draper H.,
RA Ernst S., Fu G., Gonzalez-Garay M.L., Garcia D.K., Gillett W., Gu J.,
RA Hao B., Haugen E., Havlak P., He X., Hennig S., Hu S., Huang W.,
RA Jackson L.R., Jacob L.S., Kelly S.H., Kube M., Levy R., Li Z., Liu B.,
RA Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O.,
RA Palmeiri A., Pasternak S., Perez L.M., Phelps K.A., Plopper F.J., Qiang B.,
RA Raymond C., Rodriguez R., Saenphimmachak C., Santibanez J., Shen H.,
RA Shen Y., Subramanian S., Tabor P.E., Verduzco D., Waldron L., Wang J.,
RA Wang J., Wang Q., Williams G.A., Wong G.K.-S., Yao Z., Zhang J., Zhang X.,
RA Zhao G., Zhou J., Zhou Y., Nelson D., Lehrach H., Reinhardt R.,
RA Naylor S.L., Yang H., Olson M., Weinstock G., Gibbs R.A.;
RT "The DNA sequence, annotation and analysis of human chromosome 3.";
RL Nature 440:1194-1198(2006).
RN [3]
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 [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Testis;
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 [5]
RP VARIANT [LARGE SCALE ANALYSIS] ASN-369.
RX PubMed=16959974; DOI=10.1126/science.1133427;
RA Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D.,
RA Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P.,
RA Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V.,
RA Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H.,
RA Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W.,
RA Velculescu V.E.;
RT "The consensus coding sequences of human breast and colorectal cancers.";
RL Science 314:268-274(2006).
CC -!- FUNCTION: May play a role in spermatogenesis.
CC -!- INTERACTION:
CC Q9BWX1; P28799: GRN; NbExp=3; IntAct=EBI-4307517, EBI-747754;
CC Q9BWX1; Q7Z699: SPRED1; NbExp=3; IntAct=EBI-4307517, EBI-5235340;
CC Q9BWX1; P62837: UBE2D2; NbExp=3; IntAct=EBI-4307517, EBI-347677;
CC Q9BWX1; Q9Y2X8: UBE2D4; NbExp=3; IntAct=EBI-4307517, EBI-745527;
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:11829468}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q9BWX1-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q9BWX1-2; Sequence=VSP_046255;
CC -!- TISSUE SPECIFICITY: Highly expressed in Sertoli cells, but not in germ
CC cells in adult testis. Expression in embryonic testis is 30-times
CC lower. Highly expressed in colon, spleen, white blood cells, pancreas,
CC lung, liver, placenta and brain. Detected at lower levels in thymus,
CC small intestine, ovary and kidney. {ECO:0000269|PubMed:11829468}.
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DR EMBL; AY014283; AAK27308.1; -; mRNA.
DR EMBL; AC006208; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC092045; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471055; EAW65224.1; -; Genomic_DNA.
DR EMBL; BC022002; AAH22002.1; -; mRNA.
DR CCDS; CCDS2854.1; -. [Q9BWX1-1]
DR CCDS; CCDS2855.1; -. [Q9BWX1-2]
DR RefSeq; NP_001265150.1; NM_001278221.2. [Q9BWX1-2]
DR RefSeq; NP_001308055.1; NM_001321126.1. [Q9BWX1-1]
DR RefSeq; NP_001308056.1; NM_001321127.1. [Q9BWX1-1]
DR RefSeq; NP_057567.3; NM_016483.6. [Q9BWX1-1]
DR AlphaFoldDB; Q9BWX1; -.
DR SMR; Q9BWX1; -.
DR BioGRID; 119594; 29.
DR IntAct; Q9BWX1; 20.
DR STRING; 9606.ENSP00000333024; -.
DR iPTMnet; Q9BWX1; -.
DR PhosphoSitePlus; Q9BWX1; -.
DR BioMuta; PHF7; -.
DR DMDM; 62900704; -.
DR MassIVE; Q9BWX1; -.
DR PaxDb; Q9BWX1; -.
DR PeptideAtlas; Q9BWX1; -.
DR PRIDE; Q9BWX1; -.
DR ProteomicsDB; 79337; -. [Q9BWX1-1]
DR Antibodypedia; 31216; 254 antibodies from 21 providers.
DR DNASU; 51533; -.
DR Ensembl; ENST00000327906.8; ENSP00000333024.3; ENSG00000010318.22. [Q9BWX1-1]
DR Ensembl; ENST00000347025.6; ENSP00000246282.4; ENSG00000010318.22. [Q9BWX1-2]
DR Ensembl; ENST00000614886.4; ENSP00000480003.1; ENSG00000010318.22. [Q9BWX1-2]
DR GeneID; 51533; -.
DR KEGG; hsa:51533; -.
DR MANE-Select; ENST00000327906.8; ENSP00000333024.3; NM_016483.7; NP_057567.3.
DR UCSC; uc003ddy.5; human. [Q9BWX1-1]
DR CTD; 51533; -.
DR DisGeNET; 51533; -.
DR GeneCards; PHF7; -.
DR HGNC; HGNC:18458; PHF7.
DR HPA; ENSG00000010318; Tissue enriched (testis).
DR neXtProt; NX_Q9BWX1; -.
DR OpenTargets; ENSG00000010318; -.
DR PharmGKB; PA38541; -.
DR VEuPathDB; HostDB:ENSG00000010318; -.
DR eggNOG; KOG1084; Eukaryota.
DR GeneTree; ENSGT00950000182865; -.
DR InParanoid; Q9BWX1; -.
DR OMA; CSQTVYH; -.
DR PhylomeDB; Q9BWX1; -.
DR TreeFam; TF325426; -.
DR PathwayCommons; Q9BWX1; -.
DR SignaLink; Q9BWX1; -.
DR BioGRID-ORCS; 51533; 9 hits in 1093 CRISPR screens.
DR ChiTaRS; PHF7; human.
DR GenomeRNAi; 51533; -.
DR Pharos; Q9BWX1; Tbio.
DR PRO; PR:Q9BWX1; -.
DR Proteomes; UP000005640; Chromosome 3.
DR RNAct; Q9BWX1; protein.
DR Bgee; ENSG00000010318; Expressed in right testis and 139 other tissues.
DR ExpressionAtlas; Q9BWX1; baseline and differential.
DR Genevisible; Q9BWX1; HS.
DR GO; GO:0005829; C:cytosol; IDA:HPA.
DR GO; GO:0005794; C:Golgi apparatus; IDA:HPA.
DR GO; GO:0016607; C:nuclear speck; IDA:HPA.
DR GO; GO:0005654; C:nucleoplasm; IDA:HPA.
DR GO; GO:0005634; C:nucleus; HDA:UniProtKB.
DR GO; GO:0005886; C:plasma membrane; IDA:HPA.
DR GO; GO:0046872; F:metal ion binding; IEA:UniProtKB-KW.
DR CDD; cd15669; ePHD_PHF7_G2E3_like; 1.
DR CDD; cd15496; PHD_PHF7_G2E3_like; 1.
DR Gene3D; 3.30.40.10; -; 2.
DR InterPro; IPR034732; EPHD.
DR InterPro; IPR042013; PHF7/G2E3_ePHD.
DR InterPro; IPR042012; PHF7/G2E3_PHD.
DR InterPro; IPR011011; Znf_FYVE_PHD.
DR InterPro; IPR001965; Znf_PHD.
DR InterPro; IPR001841; Znf_RING.
DR InterPro; IPR013083; Znf_RING/FYVE/PHD.
DR SMART; SM00249; PHD; 2.
DR SUPFAM; SSF57903; SSF57903; 1.
DR PROSITE; PS51805; EPHD; 1.
DR PROSITE; PS50089; ZF_RING_2; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Metal-binding; Nucleus; Reference proteome; Zinc;
KW Zinc-finger.
FT CHAIN 1..381
FT /note="PHD finger protein 7"
FT /id="PRO_0000055996"
FT ZN_FING 30..68
FT /note="C2HC pre-PHD-type"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01146"
FT ZN_FING 96..145
FT /note="PHD-type"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01146"
FT ZN_FING 160..208
FT /note="RING-type; degenerate"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00175"
FT REGION 341..363
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 228..266
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000305"
FT /id="VSP_046255"
FT VARIANT 369
FT /note="K -> N (in a breast cancer sample; somatic
FT mutation)"
FT /evidence="ECO:0000269|PubMed:16959974"
FT /id="VAR_035957"
SQ SEQUENCE 381 AA; 43767 MW; 5219D262D8135B8D CRC64;
MKTVKEKKEC QRLRKSAKTR RVTQRKPSSG PVCWLCLREP GDPEKLGEFL QKDNISVHYF
CLILSSKLPQ RGQSNRGFHG FLPEDIKKEA ARASRKICFV CKKKGAAINC QKDQCLRNFH
LPCGQERGCL SQFFGEYKSF CDKHRPTQNI QHGHVGEESC ILCCEDLSQQ SVENIQSPCC
SQAIYHRKCI QKYAHTSAKH FFKCPQCNNR KEFPQEMLRM GIHIPDRDAA WELEPGAFSD
LYQRYQHCDA PICLYEQGRD SFEDEGRWCL ILCATCGSHG THRDCSSLRS NSKKWECEEC
SPAAATDYIP ENSGDIPCCS STFHPEEHFC RDNTLEENPG LSWTDWPEPS LLEKPESSRG
RRSYSWRSKG VRITNSCKKS K
