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    PHRF1 PHD and ring finger domains 1 [ Homo sapiens (human) ]

    Gene ID: 57661, updated on 10-Dec-2024

    Summary

    Official Symbol
    PHRF1provided by HGNC
    Official Full Name
    PHD and ring finger domains 1provided by HGNC
    Primary source
    HGNC:HGNC:24351
    See related
    Ensembl:ENSG00000070047 MIM:611780; AllianceGenome:HGNC:24351
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    RNF221; PPP1R125
    Summary
    Predicted to enable RNA polymerase binding activity. Predicted to be involved in protein ubiquitination. Located in membrane. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in testis (RPKM 9.2), spleen (RPKM 7.4) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See PHRF1 in Genome Data Viewer
    Location:
    11p15.5
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (576470..612222)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (619076..660868)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (576470..612222)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene MIR210 host gene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:569389-570139 Neighboring gene translation initiation factor IF-2-like Neighboring gene microRNA 210 Neighboring gene uncharacterized LOC143666 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:583763-584264 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:584265-584764 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:595501-596000 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:604659-605277 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:612434-613028 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:613623-614217 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:614812-615406 Neighboring gene interferon regulatory factor 7 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:620099-620704 Neighboring gene cadherin related family member 5

    Genomic regions, transcripts, and products

    Expression

    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    BioGRID CRISPR Screen Phenotypes (16 hits/1302 screens)

    EBI GWAS Catalog

    Description
    A systemic sclerosis and systemic lupus erythematosus pan-meta-GWAS reveals new shared susceptibility loci.
    EBI GWAS Catalog
    Differential genetic associations for systemic lupus erythematosus based on anti-dsDNA autoantibody production.
    EBI GWAS Catalog
    Genome-wide association scan in women with systemic lupus erythematosus identifies susceptibility variants in ITGAM, PXK, KIAA1542 and other loci.
    EBI GWAS Catalog

    Interactions

    General gene information

    Clone Names

    • KIAA1542

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA polymerase binding  
    enables metal ion binding  
    enables protein binding PubMed 
    Component Evidence Code Pubs
    located_in membrane PubMed 

    General protein information

    Preferred Names
    PHD and RING finger domain-containing protein 1
    Names
    CTD-binding SR-like protein rA9
    protein phosphatase 1, regulatory subunit 125

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001286581.2 → NP_001273510.1  PHD and RING finger domain-containing protein 1 isoform 1

      See identical proteins and their annotated locations for NP_001273510.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AP006284, BC146771, DA656880
      Consensus CDS
      CCDS65988.1
      UniProtKB/Swiss-Prot
      A6H8W1, B7ZM64, B9EGP0, C9JS82, Q6PJP2, Q8IVY2, Q8N2Y7, Q9BSM2, Q9P1Y6
      UniProtKB/TrEMBL
      A0A0J9YWD5
      Related
      ENSP00000264555.5, ENST00000264555.10
      Conserved Domains (3) summary
      cd15536
      Location:185 → 230
      PHD_PHRF1; PHD finger found in PHD and RING finger domain-containing protein 1 (PHRF1)
      pfam12678
      Location:92 → 149
      zf-rbx1; RING-H2 zinc finger
      pfam13639
      Location:106 → 149
      zf-RING_2; Ring finger domain
    2. NM_001286582.2 → NP_001273511.1  PHD and RING finger domain-containing protein 1 isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) uses two alternate in-frame splice sites, compared to variant 1. The encoded isoform (3) is shorter than isoform 1.
      Source sequence(s)
      BC144293, BC144295, BC146771, DA656880
      Consensus CDS
      CCDS65989.1
      UniProtKB/TrEMBL
      A0A0J9YYB5, B7ZM66, F8WEF5
      Related
      ENSP00000388589.2, ENST00000413872.6
      Conserved Domains (3) summary
      cd15536
      Location:184 → 229
      PHD_PHRF1; PHD finger found in PHD and RING finger domain-containing protein 1 (PHRF1)
      pfam12678
      Location:91 → 148
      zf-rbx1; RING-H2 zinc finger
      pfam13639
      Location:105 → 148
      zf-RING_2; Ring finger domain
    3. NM_001286583.2 → NP_001273512.1  PHD and RING finger domain-containing protein 1 isoform 4

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) uses two alternate in-frame splice sites, compared to variant 1. The encoded isoform (4) is shorter than isoform 1.
      Source sequence(s)
      AP006284, BC144293, BC144294, BC146771, DA656880
      Consensus CDS
      CCDS65987.1
      UniProtKB/TrEMBL
      B7ZM65, E9PJ24
      Related
      ENSP00000431870.1, ENST00000533464.5
      Conserved Domains (3) summary
      cd15536
      Location:181 → 226
      PHD_PHRF1; PHD finger found in PHD and RING finger domain-containing protein 1 (PHRF1)
      pfam12678
      Location:88 → 145
      zf-rbx1; RING-H2 zinc finger
      pfam13639
      Location:102 → 145
      zf-RING_2; Ring finger domain
    4. NM_020901.4 → NP_065952.2  PHD and RING finger domain-containing protein 1 isoform 2

      See identical proteins and their annotated locations for NP_065952.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
      Source sequence(s)
      BC144293, BC146771, DA656880
      Consensus CDS
      CCDS44507.1
      UniProtKB/TrEMBL
      A0A0J9YWD5
      Related
      ENSP00000410626.2, ENST00000416188.3
      Conserved Domains (3) summary
      cd15536
      Location:185 → 230
      PHD_PHRF1; PHD finger found in PHD and RING finger domain-containing protein 1 (PHRF1)
      pfam12678
      Location:92 → 149
      zf-rbx1; RING-H2 zinc finger
      pfam13639
      Location:106 → 149
      zf-RING_2; Ring finger domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      576470..612222
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011520236.4 → XP_011518538.1  PHD and RING finger domain-containing protein 1 isoform X2

      UniProtKB/TrEMBL
      A0A0J9YWD5
      Conserved Domains (3) summary
      cd15536
      Location:185 → 230
      PHD_PHRF1; PHD finger found in PHD and RING finger domain-containing protein 1 (PHRF1)
      pfam12678
      Location:92 → 149
      zf-rbx1; RING-H2 zinc finger
      pfam13639
      Location:106 → 149
      zf-RING_2; Ring finger domain
    2. XM_047427343.1 → XP_047283299.1  PHD and RING finger domain-containing protein 1 isoform X5

      UniProtKB/TrEMBL
      A0A0J9YWD5
    3. XM_005253025.6 → XP_005253082.1  PHD and RING finger domain-containing protein 1 isoform X1

      UniProtKB/TrEMBL
      A0A0J9YYB5, B7ZM66
      Conserved Domains (3) summary
      cd15536
      Location:184 → 229
      PHD_PHRF1; PHD finger found in PHD and RING finger domain-containing protein 1 (PHRF1)
      pfam12678
      Location:91 → 148
      zf-rbx1; RING-H2 zinc finger
      pfam13639
      Location:105 → 148
      zf-RING_2; Ring finger domain
    4. XM_047427342.1 → XP_047283298.1  PHD and RING finger domain-containing protein 1 isoform X4

      UniProtKB/TrEMBL
      A0A0J9YYB5, B7ZM66
    5. XM_011520237.4 → XP_011518539.1  PHD and RING finger domain-containing protein 1 isoform X10

      UniProtKB/TrEMBL
      A0A0J9YYB5, B7ZM66
      Conserved Domains (3) summary
      cd15536
      Location:145 → 190
      PHD_PHRF1; PHD finger found in PHD and RING finger domain-containing protein 1 (PHRF1)
      pfam12678
      Location:52 → 109
      zf-rbx1; RING-H2 zinc finger
      pfam13639
      Location:66 → 109
      zf-RING_2; Ring finger domain
    6. XM_047427348.1 → XP_047283304.1  PHD and RING finger domain-containing protein 1 isoform X11

      UniProtKB/TrEMBL
      A0A0J9YYB5, B7ZM66
    7. XM_005253027.4 → XP_005253084.1  PHD and RING finger domain-containing protein 1 isoform X3

      UniProtKB/TrEMBL
      B7ZM65
      Conserved Domains (3) summary
      cd15536
      Location:182 → 227
      PHD_PHRF1; PHD finger found in PHD and RING finger domain-containing protein 1 (PHRF1)
      pfam12678
      Location:89 → 146
      zf-rbx1; RING-H2 zinc finger
      pfam13639
      Location:103 → 146
      zf-RING_2; Ring finger domain
    8. XM_047427344.1 → XP_047283300.1  PHD and RING finger domain-containing protein 1 isoform X6

      UniProtKB/TrEMBL
      B7ZM65
    9. XM_047427345.1 → XP_047283301.1  PHD and RING finger domain-containing protein 1 isoform X7

      UniProtKB/TrEMBL
      B7ZM65
    10. XM_047427346.1 → XP_047283302.1  PHD and RING finger domain-containing protein 1 isoform X8

      UniProtKB/TrEMBL
      B7ZM65
    11. XM_047427347.1 → XP_047283303.1  PHD and RING finger domain-containing protein 1 isoform X9

      UniProtKB/TrEMBL
      B7ZM65

    Reference GRCh38.p14 ALT_REF_LOCI_1

    Genomic

    1. NT_187586.1 Reference GRCh38.p14 ALT_REF_LOCI_1

      Range
      106126..142115
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054328910.1 → XP_054184885.1  PHD and RING finger domain-containing protein 1 isoform X2

      UniProtKB/TrEMBL
      A0A0J9YWD5
    2. XM_054328913.1 → XP_054184888.1  PHD and RING finger domain-containing protein 1 isoform X5

      UniProtKB/TrEMBL
      A0A0J9YWD5
    3. XM_054328909.1 → XP_054184884.1  PHD and RING finger domain-containing protein 1 isoform X1

      UniProtKB/TrEMBL
      A0A0J9YYB5
    4. XM_054328912.1 → XP_054184887.1  PHD and RING finger domain-containing protein 1 isoform X4

      UniProtKB/TrEMBL
      A0A0J9YYB5
    5. XM_054328915.1 → XP_054184890.1  PHD and RING finger domain-containing protein 1 isoform X12

      UniProtKB/TrEMBL
      A0A0J9YYB5
    6. XM_054328920.1 → XP_054184895.1  PHD and RING finger domain-containing protein 1 isoform X10

      UniProtKB/TrEMBL
      A0A0J9YYB5
    7. XM_054328921.1 → XP_054184896.1  PHD and RING finger domain-containing protein 1 isoform X11

      UniProtKB/TrEMBL
      A0A0J9YYB5
    8. XM_054328922.1 → XP_054184897.1  PHD and RING finger domain-containing protein 1 isoform X15

      UniProtKB/TrEMBL
      A0A0J9YYB5
    9. XM_054328911.1 → XP_054184886.1  PHD and RING finger domain-containing protein 1 isoform X3

      UniProtKB/TrEMBL
      B7ZM65
    10. XM_054328914.1 → XP_054184889.1  PHD and RING finger domain-containing protein 1 isoform X6

      UniProtKB/TrEMBL
      B7ZM65
    11. XM_054328916.1 → XP_054184891.1  PHD and RING finger domain-containing protein 1 isoform X7

      UniProtKB/TrEMBL
      B7ZM65
    12. XM_054328919.1 → XP_054184894.1  PHD and RING finger domain-containing protein 1 isoform X14

      UniProtKB/TrEMBL
      B7ZM65
    13. XM_054328917.1 → XP_054184892.1  PHD and RING finger domain-containing protein 1 isoform X13

      UniProtKB/TrEMBL
      B7ZM65
    14. XM_054328918.1 → XP_054184893.1  PHD and RING finger domain-containing protein 1 isoform X8

      UniProtKB/TrEMBL
      B7ZM65

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      619076..660868
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054369490.1 → XP_054225465.1  PHD and RING finger domain-containing protein 1 isoform X16

      UniProtKB/TrEMBL
      A0A0J9YWD5
    2. XM_054369492.1 → XP_054225467.1  PHD and RING finger domain-containing protein 1 isoform X2

      UniProtKB/TrEMBL
      A0A0J9YWD5
    3. XM_054369495.1 → XP_054225470.1  PHD and RING finger domain-containing protein 1 isoform X5

      UniProtKB/TrEMBL
      A0A0J9YWD5
    4. XM_054369491.1 → XP_054225466.1  PHD and RING finger domain-containing protein 1 isoform X1

      UniProtKB/TrEMBL
      A0A0J9YYB5
    5. XM_054369494.1 → XP_054225469.1  PHD and RING finger domain-containing protein 1 isoform X4

      UniProtKB/TrEMBL
      A0A0J9YYB5
    6. XM_054369497.1 → XP_054225472.1  PHD and RING finger domain-containing protein 1 isoform X17

      UniProtKB/TrEMBL
      A0A0J9YYB5
    7. XM_054369503.1 → XP_054225478.1  PHD and RING finger domain-containing protein 1 isoform X10

      UniProtKB/TrEMBL
      A0A0J9YYB5
    8. XM_054369504.1 → XP_054225479.1  PHD and RING finger domain-containing protein 1 isoform X11

      UniProtKB/TrEMBL
      A0A0J9YYB5
    9. XM_054369505.1 → XP_054225480.1  PHD and RING finger domain-containing protein 1 isoform X20

      UniProtKB/TrEMBL
      A0A0J9YYB5
    10. XM_054369493.1 → XP_054225468.1  PHD and RING finger domain-containing protein 1 isoform X3

      UniProtKB/TrEMBL
      B7ZM65
    11. XM_054369496.1 → XP_054225471.1  PHD and RING finger domain-containing protein 1 isoform X6

      UniProtKB/TrEMBL
      B7ZM65
    12. XM_054369498.1 → XP_054225473.1  PHD and RING finger domain-containing protein 1 isoform X7

      UniProtKB/TrEMBL
      B7ZM65
    13. XM_054369501.1 → XP_054225476.1  PHD and RING finger domain-containing protein 1 isoform X19

      UniProtKB/TrEMBL
      B7ZM65
    14. XM_054369499.1 → XP_054225474.1  PHD and RING finger domain-containing protein 1 isoform X18

      UniProtKB/TrEMBL
      B7ZM65
    15. XM_054369500.1 → XP_054225475.1  PHD and RING finger domain-containing protein 1 isoform X8

      UniProtKB/TrEMBL
      B7ZM65
    16. XM_054369502.1 → XP_054225477.1  PHD and RING finger domain-containing protein 1 isoform X9

      UniProtKB/TrEMBL
      B7ZM65
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