PHRF1 (PHD and ring finger domains 1)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID 57661
Gene name PHD and ring finger domains 1
Gene symbol PHRF1
Synonyms (NCBI Gene)
PPP1R125RNF221
Chromosome 11
Chromosome location 11p15.5
miRNA miRNA information provided by mirtarbase database.
13
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (13)
miRTarBase ID miRNA Experiments Reference
MIRT046812 hsa-miR-222-3p CLASH 23622248
MIRT041602 hsa-miR-193b-3p CLASH 23622248
MIRT040686 hsa-miR-92b-3p CLASH 23622248
MIRT036274 hsa-miR-1229-3p CLASH 23622248
MIRT2068274 hsa-miR-103b CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
6
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (6)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 21988832, 33961781
GO:0008270 Function Zinc ion binding IEA
GO:0016020 Component Membrane HDA 19946888
GO:0016567 Process Protein ubiquitination IEA
GO:0046872 Function Metal ion binding IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
611780 24351 ENSG00000070047
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9P1Y6
Protein name PHD and RING finger domain-containing protein 1
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13639 zf-RING_2 106 → 149 Ring finger domain Domain
PF00628 PHD 185 → 233 PHD-finger Domain
Sequence 
MDDDSLDELVARSPGPDGHPQVGPADPAGDFEESSVGSSGDSGDDSDSEHGDGTDGEDEG
ASEEEDLEDRSGSEDSEDDGETLLEVAGTQGKLEAAGSFNSDDDAESCPICLNAFRDQAV
GTPENCAHYFCLDCIVEWSKNANSCPVDRTLFKCICIRAQFGGKILRKIPVENTKASEEE
EDPTFCEVCGRSDREDRLLLCDGCDAGYHMECLDPPLQEVPVDEWFCPECAAPGVVLAAD
AGPVSEEEVSLLLADVVPTTSRLRPRAGRTRAIARTRQSERVRATVNRNRISTARRVQHT
PGRLGSSLLDEAIEAVATGLSTAVYQRPLTPRTPARRKRKTRRRKKVPGRKKTPSGPSAK
SKSSATRSKKRQHRVKKRRGKKVKSEATTRSRIARTLGLRRPVHSSCIPSVLKPVEPSLG
LLRADIGAASLSLFGDPYELDPFDSSEELSANPLSPLSAKRRALSRSALQSHQPVARPVS
VGLSRRRLPAAVPEPDLEEEPVPDLLGSILSGQSLLMLGSSDVIIHRDGSLSAKRAAPVS
FQRNSGSLSRGEEGFKGCLQPRALPSGSPAQGPSGNRPQSTGLSCQGRSRTPARTAGAPV
RLDLPAAPGAVQARNLSNGSVPGFRQSHSPWFNGTNKHTLPLASAASKISSRDSKPPCRS
VVPGPPLKPAPRRTDISELPRIPKIRRDDGGGRRDAAPAHGQSIEIPSACISRLTGREGT
GQPGRGTRAESEASSRVPREPGVHTGSSRPPAPSSHGSLAPLGPSRGKGVGSTFESFRIN
IPGNMAHSSQLSSPGFCNTFRPVDDKEQRKENPSPLFSIKKTKQLRSEVYDPSDPTGSDS
SAPGSSPERSGPGLLPSEITRTISINSPKAQTVQAVRCVTSYTVESIFGTEPEPPLGPSS
AMSKLRGAVAAEGASDTEREEPTESQGLAARLRRPSPPEPWDEEDGASCSTFFGSEERTV
TCVTVVEPEAPPSPDVLQAATHRVVELRPPSRSRSTSSSRSRKKAKRKRVSREHGRTRSG
TRSESRDRSSRSASPSVGEERPRRQRSKAKSRRSSSDRSSSRERAKRKKAKDKSREHRRG
PWGHSRRTSRSRSGSPGSSSYEHYESRKKKKRRSASRPRGRECSPTSSLERLCRHKHQRE
RSHERPDRKESVAWPRDRRKRRSRSPSSEHRAREHRRPRSREKWPQTRSHSPERKGAVRE
ASPAPLAQGEPGREDLPTRLPALGEAHVSPEVATADKAPLQAPPVLEVAAECEPDDLDLD
YGDSVEAGHVFDDFSSDAVFIQLDDMSSPPSPESTDSSPERDFPLKPALPPASLAVAAIQ
REVSLMHDEDPSQPPPLPEGTQEPHLLRPDAAEKAEAPSSPDVAPAGKEDSPSASGRVQE
AARPEEVVSQTPLLRSRALVKRVTWNLQESESSAPAEDRAPRAPLHRPQKPREGAWDMED
VAPTGVRQVFSELPFPSHVLPEPGFPDTDPSQVYSPGLPPAPAQPSSIPPCALVSQPTVQ
FILQGSLPLVGCGAAQTLAPVPAALTPASEPASQATAASNSEEKTPAPRLAAEKTKKEEY
MKKLHMQERAVEEVKLAIKPFYQKREVTKEEYKDILRKAVQKICHSKSGEINPVKVANLV
KAYVDKYRHMRRHKKPEAGEEPPTQGAEG
Sequence length 1649
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
13
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Unknown Diseases (6)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Aganglionic megacolon Uncertain significance rs551874512 RCV000984690
Cervical cancer Likely benign rs138408584 RCV005932970
Clear cell carcinoma of kidney Likely benign rs138408584 RCV005932971
PHRF1-related disorder Uncertain significance; Likely benign; Benign rs1199430082, rs200687895, rs553793466, rs113889171, rs370929509, rs73398389, rs201614026, rs201244128 RCV003405900
RCV003961719
RCV003959651
RCV003941403
RCV003957108
RCV003936865
RCV003952320
RCV003930829
Show/Hide Text Mining Associations (5)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Ataxia Telangiectasia Associate 25855964
Kidney Diseases Associate 22433914
Lupus Erythematosus Systemic Associate 20112359, 21360504, 22433914
Neoplasms Inhibit 25855964
Sjogren's Syndrome Associate 29070082