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

Gene ID: 57661, updated on 6-Nov-2022

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 mRNA processing and transcription by RNA polymerase II. Located in membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in testis (RPKM 9.2), spleen (RPKM 7.4) and 25 other tissues See more
Orthologs
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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
110 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (576470..612222)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (623488..660868)
105.20220307 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 translation initiation factor IF-2-like Neighboring gene microRNA 210 Neighboring gene uncharacterized LOC143666 Neighboring gene interferon regulatory factor 7 Neighboring gene cadherin related family member 5

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

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

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA1542

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables RNA polymerase binding ISS
Inferred from Sequence or Structural Similarity
more info
 
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
 
enables protein domain specific binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
involved_in mRNA processing IEA
Inferred from Electronic Annotation
more info
 
involved_in transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in membrane HDA 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_001286581.2NP_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
    Q9BSM2, Q9P1Y6
    UniProtKB/TrEMBL
    A0A024RCA1
    Related
    ENSP00000264555.5, ENST00000264555.10
    Conserved Domains (3) summary
    cd15536
    Location:185230
    PHD_PHRF1; PHD finger found in PHD and RING finger domain-containing protein 1 (PHRF1)
    pfam12678
    Location:92149
    zf-rbx1; RING-H2 zinc finger
    pfam13639
    Location:106149
    zf-RING_2; Ring finger domain
  2. NM_001286582.2NP_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/Swiss-Prot
    Q9P1Y6
    UniProtKB/TrEMBL
    B7ZM66, F8WEF5
    Related
    ENSP00000388589.2, ENST00000413872.6
    Conserved Domains (3) summary
    cd15536
    Location:184229
    PHD_PHRF1; PHD finger found in PHD and RING finger domain-containing protein 1 (PHRF1)
    pfam12678
    Location:91148
    zf-rbx1; RING-H2 zinc finger
    pfam13639
    Location:105148
    zf-RING_2; Ring finger domain
  3. NM_001286583.2NP_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/Swiss-Prot
    Q9P1Y6
    UniProtKB/TrEMBL
    B7ZM65, E9PJ24
    Related
    ENSP00000431870.1, ENST00000533464.5
    Conserved Domains (3) summary
    cd15536
    Location:181226
    PHD_PHRF1; PHD finger found in PHD and RING finger domain-containing protein 1 (PHRF1)
    pfam12678
    Location:88145
    zf-rbx1; RING-H2 zinc finger
    pfam13639
    Location:102145
    zf-RING_2; Ring finger domain
  4. NM_020901.4NP_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/Swiss-Prot
    Q9P1Y6
    Related
    ENSP00000410626.2, ENST00000416188.3
    Conserved Domains (3) summary
    cd15536
    Location:185230
    PHD_PHRF1; PHD finger found in PHD and RING finger domain-containing protein 1 (PHRF1)
    pfam12678
    Location:92149
    zf-rbx1; RING-H2 zinc finger
    pfam13639
    Location:106149
    zf-RING_2; Ring finger domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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_011520236.4XP_011518538.1  PHD and RING finger domain-containing protein 1 isoform X2

    Conserved Domains (3) summary
    cd15536
    Location:185230
    PHD_PHRF1; PHD finger found in PHD and RING finger domain-containing protein 1 (PHRF1)
    pfam12678
    Location:92149
    zf-rbx1; RING-H2 zinc finger
    pfam13639
    Location:106149
    zf-RING_2; Ring finger domain
  2. XM_047427343.1XP_047283299.1  PHD and RING finger domain-containing protein 1 isoform X5

  3. XM_005253025.6XP_005253082.1  PHD and RING finger domain-containing protein 1 isoform X1

    Conserved Domains (3) summary
    cd15536
    Location:184229
    PHD_PHRF1; PHD finger found in PHD and RING finger domain-containing protein 1 (PHRF1)
    pfam12678
    Location:91148
    zf-rbx1; RING-H2 zinc finger
    pfam13639
    Location:105148
    zf-RING_2; Ring finger domain
  4. XM_047427342.1XP_047283298.1  PHD and RING finger domain-containing protein 1 isoform X4

  5. XM_011520237.4XP_011518539.1  PHD and RING finger domain-containing protein 1 isoform X10

    Conserved Domains (3) summary
    cd15536
    Location:145190
    PHD_PHRF1; PHD finger found in PHD and RING finger domain-containing protein 1 (PHRF1)
    pfam12678
    Location:52109
    zf-rbx1; RING-H2 zinc finger
    pfam13639
    Location:66109
    zf-RING_2; Ring finger domain
  6. XM_047427348.1XP_047283304.1  PHD and RING finger domain-containing protein 1 isoform X11

  7. XM_005253027.4XP_005253084.1  PHD and RING finger domain-containing protein 1 isoform X3

    Conserved Domains (3) summary
    cd15536
    Location:182227
    PHD_PHRF1; PHD finger found in PHD and RING finger domain-containing protein 1 (PHRF1)
    pfam12678
    Location:89146
    zf-rbx1; RING-H2 zinc finger
    pfam13639
    Location:103146
    zf-RING_2; Ring finger domain
  8. XM_047427344.1XP_047283300.1  PHD and RING finger domain-containing protein 1 isoform X6

  9. XM_047427345.1XP_047283301.1  PHD and RING finger domain-containing protein 1 isoform X7

  10. XM_047427346.1XP_047283302.1  PHD and RING finger domain-containing protein 1 isoform X8

  11. XM_047427347.1XP_047283303.1  PHD and RING finger domain-containing protein 1 isoform X9

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)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    623488..660868
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)