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Protein

PHD and RING finger domain-containing protein 1

Gene

PHRF1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-Experimental evidence at protein leveli

Functioni

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri108 – 149RING-type; degeneratePROSITE-ProRule annotationAdd BLAST42
Zinc fingeri183 – 233PHD-typePROSITE-ProRule annotationAdd BLAST51

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Ligandi

Metal-binding, Zinc

Enzyme and pathway databases

BioCyciZFISH:ENSG00000070047-MONOMER.

Names & Taxonomyi

Protein namesi
Recommended name:
PHD and RING finger domain-containing protein 1
Gene namesi
Name:PHRF1
Synonyms:KIAA1542
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 11

Organism-specific databases

HGNCiHGNC:24351. PHRF1.

Subcellular locationi

GO - Cellular componenti

  • membrane Source: UniProtKB
Complete GO annotation...

Pathology & Biotechi

Organism-specific databases

DisGeNETi57661.
OpenTargetsiENSG00000070047.
PharmGKBiPA164718737.
PA164724459.

Polymorphism and mutation databases

DMDMi296439275.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002782661 – 1649PHD and RING finger domain-containing protein 1Add BLAST1649

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei5PhosphoserineCombined sources1
Modified residuei330PhosphothreonineCombined sources1
Modified residuei445PhosphoserineBy similarity1
Modified residuei455PhosphoserineCombined sources1
Modified residuei814PhosphoserineCombined sources1
Modified residuei845PhosphoserineCombined sources1
Modified residuei846PhosphoserineCombined sources1
Modified residuei864PhosphoserineCombined sources1
Modified residuei867PhosphoserineCombined sources1
Modified residuei915PhosphoserineCombined sources1
Modified residuei917PhosphothreonineCombined sources1
Modified residuei936PhosphoserineCombined sources1
Modified residuei973PhosphoserineCombined sources1
Modified residuei991PhosphoserineCombined sources1
Modified residuei1124PhosphoserineCombined sources1
Modified residuei1128PhosphoserineCombined sources1
Modified residuei1202PhosphoserineCombined sources1
Modified residuei1229PhosphoserineCombined sources1
Modified residuei1359PhosphoserineCombined sources1
Modified residuei1360PhosphoserineCombined sources1
Modified residuei1371PhosphoserineCombined sources1
Modified residuei1404PhosphothreonineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ9P1Y6.
MaxQBiQ9P1Y6.
PaxDbiQ9P1Y6.
PeptideAtlasiQ9P1Y6.
PRIDEiQ9P1Y6.

PTM databases

iPTMnetiQ9P1Y6.
PhosphoSitePlusiQ9P1Y6.

Expressioni

Gene expression databases

BgeeiENSG00000070047.
CleanExiHS_PHRF1.
ExpressionAtlasiQ9P1Y6. baseline and differential.
GenevisibleiQ9P1Y6. HS.

Organism-specific databases

HPAiHPA019867.
HPA062933.

Interactioni

Subunit structurei

Interacts with POLR2A (via the C-terminal domain).By similarity

GO - Molecular functioni

Protein-protein interaction databases

BioGridi121694. 15 interactors.
IntActiQ9P1Y6. 3 interactors.
STRINGi9606.ENSP00000410626.

Structurei

3D structure databases

ProteinModelPortaliQ9P1Y6.
SMRiQ9P1Y6.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili1549 – 1579Sequence analysisAdd BLAST31

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi178 – 181Poly-Glu4
Compositional biasi262 – 401Arg-richAdd BLAST140
Compositional biasi983 – 1181Arg-richAdd BLAST199

Sequence similaritiesi

Contains 1 PHD-type zinc finger.PROSITE-ProRule annotation
Contains 1 RING-type zinc finger.PROSITE-ProRule annotation

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri108 – 149RING-type; degeneratePROSITE-ProRule annotationAdd BLAST42
Zinc fingeri183 – 233PHD-typePROSITE-ProRule annotationAdd BLAST51

Keywords - Domaini

Coiled coil, Zinc-finger

Phylogenomic databases

eggNOGiKOG0825. Eukaryota.
ENOG410YZAI. LUCA.
GeneTreeiENSGT00530000063661.
HOVERGENiHBG108250.
InParanoidiQ9P1Y6.
KOiK17586.
OMAiDMEREEP.
OrthoDBiEOG091G05JH.
PhylomeDBiQ9P1Y6.
TreeFamiTF332183.

Family and domain databases

Gene3Di3.30.40.10. 2 hits.
InterProiIPR011011. Znf_FYVE_PHD.
IPR001965. Znf_PHD.
IPR019787. Znf_PHD-finger.
IPR001841. Znf_RING.
IPR013083. Znf_RING/FYVE/PHD.
IPR017907. Znf_RING_CS.
[Graphical view]
PfamiPF00628. PHD. 1 hit.
PF13639. zf-RING_2. 1 hit.
[Graphical view]
SMARTiSM00249. PHD. 1 hit.
SM00184. RING. 2 hits.
[Graphical view]
SUPFAMiSSF57903. SSF57903. 1 hit.
PROSITEiPS01359. ZF_PHD_1. 1 hit.
PS50016. ZF_PHD_2. 1 hit.
PS00518. ZF_RING_1. 1 hit.
PS50089. ZF_RING_2. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9P1Y6-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MDDDSLDELV ARSPGPDGHP QVGPADPAGD FEESSVGSSG DSGDDSDSEH
60 70 80 90 100
GDGTDGEDEG ASEEEDLEDR SGSEDSEDDG ETLLEVAGTQ GKLEAAGSFN
110 120 130 140 150
SDDDAESCPI CLNAFRDQAV GTPENCAHYF CLDCIVEWSK NANSCPVDRT
160 170 180 190 200
LFKCICIRAQ FGGKILRKIP VENTKASEEE EDPTFCEVCG RSDREDRLLL
210 220 230 240 250
CDGCDAGYHM ECLDPPLQEV PVDEWFCPEC AAPGVVLAAD AGPVSEEEVS
260 270 280 290 300
LLLADVVPTT SRLRPRAGRT RAIARTRQSE RVRATVNRNR ISTARRVQHT
310 320 330 340 350
PGRLGSSLLD EAIEAVATGL STAVYQRPLT PRTPARRKRK TRRRKKVPGR
360 370 380 390 400
KKTPSGPSAK SKSSATRSKK RQHRVKKRRG KKVKSEATTR SRIARTLGLR
410 420 430 440 450
RPVHSSCIPS VLKPVEPSLG LLRADIGAAS LSLFGDPYEL DPFDSSEELS
460 470 480 490 500
ANPLSPLSAK RRALSRSALQ SHQPVARPVS VGLSRRRLPA AVPEPDLEEE
510 520 530 540 550
PVPDLLGSIL SGQSLLMLGS SDVIIHRDGS LSAKRAAPVS FQRNSGSLSR
560 570 580 590 600
GEEGFKGCLQ PRALPSGSPA QGPSGNRPQS TGLSCQGRSR TPARTAGAPV
610 620 630 640 650
RLDLPAAPGA VQARNLSNGS VPGFRQSHSP WFNGTNKHTL PLASAASKIS
660 670 680 690 700
SRDSKPPCRS VVPGPPLKPA PRRTDISELP RIPKIRRDDG GGRRDAAPAH
710 720 730 740 750
GQSIEIPSAC ISRLTGREGT GQPGRGTRAE SEASSRVPRE PGVHTGSSRP
760 770 780 790 800
PAPSSHGSLA PLGPSRGKGV GSTFESFRIN IPGNMAHSSQ LSSPGFCNTF
810 820 830 840 850
RPVDDKEQRK ENPSPLFSIK KTKQLRSEVY DPSDPTGSDS SAPGSSPERS
860 870 880 890 900
GPGLLPSEIT RTISINSPKA QTVQAVRCVT SYTVESIFGT EPEPPLGPSS
910 920 930 940 950
AMSKLRGAVA AEGASDTERE EPTESQGLAA RLRRPSPPEP WDEEDGASCS
960 970 980 990 1000
TFFGSEERTV TCVTVVEPEA PPSPDVLQAA THRVVELRPP SRSRSTSSSR
1010 1020 1030 1040 1050
SRKKAKRKRV SREHGRTRSG TRSESRDRSS RSASPSVGEE RPRRQRSKAK
1060 1070 1080 1090 1100
SRRSSSDRSS SRERAKRKKA KDKSREHRRG PWGHSRRTSR SRSGSPGSSS
1110 1120 1130 1140 1150
YEHYESRKKK KRRSASRPRG RECSPTSSLE RLCRHKHQRE RSHERPDRKE
1160 1170 1180 1190 1200
SVAWPRDRRK RRSRSPSSEH RAREHRRPRS REKWPQTRSH SPERKGAVRE
1210 1220 1230 1240 1250
ASPAPLAQGE PGREDLPTRL PALGEAHVSP EVATADKAPL QAPPVLEVAA
1260 1270 1280 1290 1300
ECEPDDLDLD YGDSVEAGHV FDDFSSDAVF IQLDDMSSPP SPESTDSSPE
1310 1320 1330 1340 1350
RDFPLKPALP PASLAVAAIQ REVSLMHDED PSQPPPLPEG TQEPHLLRPD
1360 1370 1380 1390 1400
AAEKAEAPSS PDVAPAGKED SPSASGRVQE AARPEEVVSQ TPLLRSRALV
1410 1420 1430 1440 1450
KRVTWNLQES ESSAPAEDRA PRAPLHRPQK PREGAWDMED VAPTGVRQVF
1460 1470 1480 1490 1500
SELPFPSHVL PEPGFPDTDP SQVYSPGLPP APAQPSSIPP CALVSQPTVQ
1510 1520 1530 1540 1550
FILQGSLPLV GCGAAQTLAP VPAALTPASE PASQATAASN SEEKTPAPRL
1560 1570 1580 1590 1600
AAEKTKKEEY MKKLHMQERA VEEVKLAIKP FYQKREVTKE EYKDILRKAV
1610 1620 1630 1640
QKICHSKSGE INPVKVANLV KAYVDKYRHM RRHKKPEAGE EPPTQGAEG
Length:1,649
Mass (Da):178,666
Last modified:May 18, 2010 - v3
Checksum:iD9B8F1454C000D65
GO
Isoform 2 (identifier: Q9P1Y6-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1473-1494: VYSPGLPPAPAQPSSIPPCALV → PQSQPVKPLQPATRRRRPRPPG
     1495-1649: Missing.

Note: No experimental confirmation available.
Show »
Length:1,494
Mass (Da):161,940
Checksum:i5193AD904A9239AB
GO
Isoform 3 (identifier: Q9P1Y6-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     446-446: Missing.

Show »
Length:1,648
Mass (Da):178,579
Checksum:i6737F98E4F066CD8
GO

Sequence cautioni

The sequence BAA96066 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti167R → K in BAA96066 (PubMed:10997877).Curated1
Sequence conflicti167R → K in AAI46772 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0307271231E → A.Corresponds to variant rs7116027dbSNPEnsembl.1
Natural variantiVAR_0307281374A → V.Corresponds to variant rs7123948dbSNPEnsembl.1
Natural variantiVAR_0307291449V → A.2 PublicationsCorresponds to variant rs11246212dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_039187446Missing in isoform 3. 1 Publication1
Alternative sequenceiVSP_0232471473 – 1494VYSPG…PCALV → PQSQPVKPLQPATRRRRPRP PG in isoform 2. 1 PublicationAdd BLAST22
Alternative sequenceiVSP_0232481495 – 1649Missing in isoform 2. 1 PublicationAdd BLAST155

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB040975 mRNA. Translation: BAA96066.1. Different initiation.
AP006284 Genomic DNA. No translation available.
BC004950 mRNA. Translation: AAH04950.1.
BC013381 mRNA. Translation: AAH13381.1.
BC029651 mRNA. Translation: AAH29651.1.
BC041631 mRNA. Translation: AAH41631.1.
BC136615 mRNA. Translation: AAI36616.1.
BC144293 mRNA. Translation: AAI44294.1.
BC146771 mRNA. Translation: AAI46772.1.
CCDSiCCDS44507.1. [Q9P1Y6-3]
CCDS65988.1. [Q9P1Y6-1]
RefSeqiNP_001273510.1. NM_001286581.1. [Q9P1Y6-1]
NP_001273511.1. NM_001286582.1.
NP_001273512.1. NM_001286583.1.
NP_065952.2. NM_020901.3. [Q9P1Y6-3]
UniGeneiHs.325838.

Genome annotation databases

EnsembliENST00000264555; ENSP00000264555; ENSG00000070047. [Q9P1Y6-1]
ENST00000416188; ENSP00000410626; ENSG00000070047. [Q9P1Y6-3]
ENST00000534320; ENSP00000435360; ENSG00000070047. [Q9P1Y6-2]
ENST00000616346; ENSP00000483129; ENSG00000274780.
GeneIDi57661.
KEGGihsa:57661.
UCSCiuc001lqe.5. human. [Q9P1Y6-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB040975 mRNA. Translation: BAA96066.1. Different initiation.
AP006284 Genomic DNA. No translation available.
BC004950 mRNA. Translation: AAH04950.1.
BC013381 mRNA. Translation: AAH13381.1.
BC029651 mRNA. Translation: AAH29651.1.
BC041631 mRNA. Translation: AAH41631.1.
BC136615 mRNA. Translation: AAI36616.1.
BC144293 mRNA. Translation: AAI44294.1.
BC146771 mRNA. Translation: AAI46772.1.
CCDSiCCDS44507.1. [Q9P1Y6-3]
CCDS65988.1. [Q9P1Y6-1]
RefSeqiNP_001273510.1. NM_001286581.1. [Q9P1Y6-1]
NP_001273511.1. NM_001286582.1.
NP_001273512.1. NM_001286583.1.
NP_065952.2. NM_020901.3. [Q9P1Y6-3]
UniGeneiHs.325838.

3D structure databases

ProteinModelPortaliQ9P1Y6.
SMRiQ9P1Y6.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi121694. 15 interactors.
IntActiQ9P1Y6. 3 interactors.
STRINGi9606.ENSP00000410626.

PTM databases

iPTMnetiQ9P1Y6.
PhosphoSitePlusiQ9P1Y6.

Polymorphism and mutation databases

DMDMi296439275.

Proteomic databases

EPDiQ9P1Y6.
MaxQBiQ9P1Y6.
PaxDbiQ9P1Y6.
PeptideAtlasiQ9P1Y6.
PRIDEiQ9P1Y6.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000264555; ENSP00000264555; ENSG00000070047. [Q9P1Y6-1]
ENST00000416188; ENSP00000410626; ENSG00000070047. [Q9P1Y6-3]
ENST00000534320; ENSP00000435360; ENSG00000070047. [Q9P1Y6-2]
ENST00000616346; ENSP00000483129; ENSG00000274780.
GeneIDi57661.
KEGGihsa:57661.
UCSCiuc001lqe.5. human. [Q9P1Y6-1]

Organism-specific databases

CTDi57661.
DisGeNETi57661.
GeneCardsiPHRF1.
H-InvDBHIX0201594.
HGNCiHGNC:24351. PHRF1.
HPAiHPA019867.
HPA062933.
MIMi611780. gene.
neXtProtiNX_Q9P1Y6.
OpenTargetsiENSG00000070047.
PharmGKBiPA164718737.
PA164724459.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0825. Eukaryota.
ENOG410YZAI. LUCA.
GeneTreeiENSGT00530000063661.
HOVERGENiHBG108250.
InParanoidiQ9P1Y6.
KOiK17586.
OMAiDMEREEP.
OrthoDBiEOG091G05JH.
PhylomeDBiQ9P1Y6.
TreeFamiTF332183.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000070047-MONOMER.

Miscellaneous databases

ChiTaRSiPHRF1. human.
GenomeRNAii57661.
PROiQ9P1Y6.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000070047.
CleanExiHS_PHRF1.
ExpressionAtlasiQ9P1Y6. baseline and differential.
GenevisibleiQ9P1Y6. HS.

Family and domain databases

Gene3Di3.30.40.10. 2 hits.
InterProiIPR011011. Znf_FYVE_PHD.
IPR001965. Znf_PHD.
IPR019787. Znf_PHD-finger.
IPR001841. Znf_RING.
IPR013083. Znf_RING/FYVE/PHD.
IPR017907. Znf_RING_CS.
[Graphical view]
PfamiPF00628. PHD. 1 hit.
PF13639. zf-RING_2. 1 hit.
[Graphical view]
SMARTiSM00249. PHD. 1 hit.
SM00184. RING. 2 hits.
[Graphical view]
SUPFAMiSSF57903. SSF57903. 1 hit.
PROSITEiPS01359. ZF_PHD_1. 1 hit.
PS50016. ZF_PHD_2. 1 hit.
PS00518. ZF_RING_1. 1 hit.
PS50089. ZF_RING_2. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiPHRF1_HUMAN
AccessioniPrimary (citable) accession number: Q9P1Y6
Secondary accession number(s): A6H8W1
, B7ZM64, B9EGP0, C9JS82, Q6PJP2, Q8IVY2, Q8N2Y7, Q9BSM2
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 20, 2007
Last sequence update: May 18, 2010
Last modified: November 2, 2016
This is version 125 of the entry and version 3 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

Complete proteome, Reference proteome

Documents

  1. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

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 one 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.