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PHF12 PHD finger protein 12 [ Homo sapiens (human) ]

Gene ID: 57649, updated on 5-Mar-2024

Summary

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Official Symbol
PHF12provided by HGNC
Official Full Name
PHD finger protein 12provided by HGNC
Primary source
HGNC:HGNC:20816
See related
Ensembl:ENSG00000109118 MIM:618645; AllianceGenome:HGNC:20816
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
PF1
Summary
Enables phosphatidylinositol binding activity and transcription corepressor activity. Involved in negative regulation of transcription, DNA-templated. Acts upstream of or within negative regulation of transcription by RNA polymerase II. Located in nucleoplasm. Part of Sin3 complex and transcription repressor complex. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in bone marrow (RPKM 8.9), spleen (RPKM 8.2) and 25 other tissues See more
Orthologs
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Genomic context

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See PHF12 in Genome Data Viewer
Location:
17q11.2
Exon count:
11
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (28905250..28951518, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (29848033..29894279, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (27232268..27278536, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11955 Neighboring gene flotillin 2 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:27223968-27224468 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8359 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:27228996-27229188 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8360 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:27232864-27233364 Neighboring gene Sharpr-MPRA regulatory region 2481 Neighboring gene dehydrogenase/reductase 13 Neighboring gene uncharacterized LOC101927018 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11957 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11956 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:27275797-27276417 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:27276418-27277037 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8362 Neighboring gene uncharacterized LOC105371716 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11959 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:27279039-27279660 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:27285966-27286466 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:27286467-27286967 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11961 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:27295422-27296072 Neighboring gene seizure related 6 homolog Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:27298966-27299843 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:27304487-27305060 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11962 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:27312673-27313313 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:27314841-27315342 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:27318844-27319528 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:27319529-27320212 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:27325005-27325504 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:27330212-27330838 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:27330839-27331463 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:27332814-27332997 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:27346329-27346969 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:27346970-27347609 Neighboring gene NADH:ubiquinone oxidoreductase subunit S5 pseudogene 7

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. Structural basis for molecular interactions involving MRG domains: implications in chromatin biology. Xie T, et al. Structure, 2012 Jan 11. PMID 22244764, Free PMC Article
  2. Solution structure of the mSin3A PAH2-Pf1 SID1 complex: a Mad1/Mxd1-like interaction disrupted by MRG15 in the Rpd3S/Sin3S complex. Kumar GS, et al. J Mol Biol, 2011 May 20. PMID 21440557, Free PMC Article
  3. The polybasic region that follows the plant homeodomain zinc finger 1 of Pf1 is necessary and sufficient for specific phosphoinositide binding. Kaadige MR, et al. J Biol Chem, 2006 Sep 29. PMID 16893883
  4. Peptidoglycan recognition protein Pglyrp2 protects mice from psoriasis-like skin inflammation by promoting regulatory T cells and limiting Th17 responses. Park SY, et al. J Immunol, 2011 Dec 1. PMID 22048773, Free PMC Article
  5. Role for the mortality factors MORF4, MRGX, and MRG15 in transcriptional repression via associations with Pf1, mSin3A, and Transducin-Like Enhancer of Split. Yochum GS, et al. Mol Cell Biol, 2002 Nov. PMID 12391155, Free PMC Article

See all (47) citations in PubMed

GeneRIFs: Gene References Into Functions

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

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Replication interactions

Interaction Pubs
Knockdown of PHD finger protein 12 (PHF12) by siRNA inhibits HIV-1 replication in HeLa-derived TZM-bl cells PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ34122, KIAA1523, MGC131914

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
enables phosphatidylinositol binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables transcription corepressor activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables transcription corepressor activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables transcription corepressor binding IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in negative regulation of DNA-templated transcription IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in negative regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
  
acts_upstream_of_or_within negative regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
part_of Sin3-type complex IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of Sin3-type complex IDA
Inferred from Direct Assay
more info
 PubMed 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in nucleus IDA
Inferred from Direct Assay
more info
 PubMed 
part_of transcription repressor complex IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
PHD finger protein 12
Names
PHD factor 1
PHD zinc finger transcription factor

NCBI Reference Sequences (RefSeq)

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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_001033561.2 → NP_001028733.1  PHD finger protein 12 isoform 1

    See identical proteins and their annotated locations for NP_001028733.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AB040956, AC024267, AL161953, AY030283
    Consensus CDS
    CCDS32598.1
    UniProtKB/Swiss-Prot
    Q0VAI5, Q2TAK2, Q6ZML2, Q96QT6, Q9BV34, Q9H7U9, Q9P205
    UniProtKB/TrEMBL
    A8K5V5
    Related
    ENSP00000329933.4, ENST00000332830.9
    Conserved Domains (4) summary
    cd00060
    Location:813 → 868
    FHA; Forkhead associated domain (FHA); found in eukaryotic and prokaryotic proteins. Putative nuclear signalling domain. FHA domains may bind phosphothreonine, phosphoserine and sometimes phosphotyrosine. In eukaryotes, many FHA domain-containing proteins ...
    cd15533
    Location:58 → 102
    PHD1_PHF12; PHD finger 1 found in PHD finger protein 12 (PHF12)
    cd15534
    Location:273 → 318
    PHD2_PHF12_Rco1; PHD finger 2 found in PHD finger protein 12 (PHF12), yeast Rco1, and similar proteins
    pfam16737
    Location:203 → 241
    PHF12_MRG_bd; PHD finger protein 12 MRG binding domain

  2. NM_001290131.2 → NP_001277060.1  PHD finger protein 12 isoform 3

    See identical proteins and their annotated locations for NP_001277060.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in the 3' UTR and coding sequence compared to variant 1. The resulting isoform (3) has a shorter and distinct C-terminus compared to isoform 1.
    Source sequence(s)
    AC024267, AY030283, BC110882
    Consensus CDS
    CCDS76981.1
    UniProtKB/TrEMBL
    C9J9G2
    Related
    ENSP00000465161.1, ENST00000577226.5
    Conserved Domains (3) summary
    cd15533
    Location:58 → 102
    PHD1_PHF12; PHD finger 1 found in PHD finger protein 12 (PHF12)
    cd15534
    Location:273 → 318
    PHD2_PHF12_Rco1; PHD finger 2 found in PHD finger protein 12 (PHF12), yeast Rco1, and similar proteins
    pfam16737
    Location:203 → 241
    PHF12_MRG_bd; PHD finger protein 12 MRG binding domain

  3. NM_020889.3 → NP_065940.1  PHD finger protein 12 isoform 2

    See identical proteins and their annotated locations for NP_065940.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 3' UTR and coding sequence compared to variant 1. The resulting isoform (2) has a shorter and distinct C-terminus compared to isoform 1.
    Source sequence(s)
    AC024267, AL161953, AY030283, BC001657
    Consensus CDS
    CCDS11247.1
    UniProtKB/TrEMBL
    Q0VAI6
    Related
    ENSP00000268756.3, ENST00000268756.7
    Conserved Domains (3) summary
    cd15533
    Location:58 → 102
    PHD1_PHF12; PHD finger 1 found in PHD finger protein 12 (PHF12)
    cd15534
    Location:273 → 318
    PHD2_PHF12_Rco1; PHD finger 2 found in PHD finger protein 12 (PHF12), yeast Rco1, and similar proteins
    pfam16737
    Location:203 → 241
    PHF12_MRG_bd; PHD finger protein 12 MRG binding domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    28905250..28951518 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    29848033..29894279 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q96QT6.2 GenPept UniProtKB/Swiss-Prot:Q96QT6

Gene LinkOut

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