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    PMF1 polyamine modulated factor 1 [ Homo sapiens (human) ]

    Gene ID: 11243, updated on 3-May-2024

    Summary

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    Official Symbol
    PMF1provided by HGNC
    Official Full Name
    polyamine modulated factor 1provided by HGNC
    Primary source
    HGNC:HGNC:9112
    See related
    Ensembl:ENSG00000160783 MIM:609176; AllianceGenome:HGNC:9112
    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
    Summary
    Enables leucine zipper domain binding activity and transcription coactivator activity. Involved in chromosome segregation. Located in Golgi apparatus; kinetochore; and nucleoplasm. Part of MIS12/MIND type complex. Implicated in bladder carcinoma and urinary bladder cancer. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in bone marrow (RPKM 21.9), thyroid (RPKM 21.3) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See PMF1 in Genome Data Viewer
    Location:
    1q22
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (156213007..156240042)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (155351461..155378502)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (156182798..156209833)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124900449 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1851 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1852 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1853 Neighboring gene solute carrier family 25 member 44 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1854 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1855 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1856 Neighboring gene PMF1-BGLAP readthrough Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1422 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1857 Neighboring gene BGLAP promoter region Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1423 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1424 Neighboring gene Sharpr-MPRA regulatory region 3040 Neighboring gene bone gamma-carboxyglutamate protein Neighboring gene progestin and adipoQ receptor family member 6

    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. Polyamine-modulated factor-1 methylation predicts Bacillus Calmette-Guérin response in patients with high-grade non-muscle-invasive bladder carcinoma. Alvarez-Múgica M, et al. Eur Urol, 2013 Feb. PMID 22682992
    2. Identification of PMF1 methylation in association with bladder cancer progression. Aleman A, et al. Clin Cancer Res, 2008 Dec 15. PMID 19088041
    3. Cloning and characterization of human polyamine-modulated factor-1, a transcriptional cofactor that regulates the transcription of the spermidine/spermine N(1)-acetyltransferase gene. Wang Y, et al. J Biol Chem, 1999 Jul 30. PMID 10419538
    4. Meta-analysis of genome-wide association studies identifies 1q22 as a susceptibility locus for intracerebral hemorrhage. Woo D, et al. Am J Hum Genet, 2014 Apr 3. PMID 24656865, Free PMC Article
    5. Polyamine-modulated factor 1 binds to the human homologue of the 7a subunit of the Arabidopsis COP9 signalosome: implications in gene expression. Wang Y, et al. Biochem J, 2002 Aug 15. PMID 12020345, Free PMC Article

    See all (48) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. These results suggest that rs1052053 in PMF1 is not associated with leukoaraiosis (LA) risk in the Chinese population.
      Title: Analysis of genetic polymorphisms associated with leukoaraiosis in the southern Chinese population: A case-control study.
    2. Bladder carcinoma with unmethylated PMF1 was more likely to recur after BCG treatment.
      Title: Polyamine-modulated factor-1 methylation predicts Bacillus Calmette-Guérin response in patients with high-grade non-muscle-invasive bladder carcinoma.
    3. The association of PMF1 methylation with tumor progression and its diagnostic ability using urinary specimens support including PMF1 assessment for the clinical management of bladder cancer patients.
      Title: Identification of PMF1 methylation in association with bladder cancer progression.
    4. Polyamine-modulated factor 1 binds to CSN7.
      Title: Polyamine-modulated factor 1 binds to the human homologue of the 7a subunit of the Arabidopsis COP9 signalosome: implications in gene expression.
    Submit: New GeneRIF Correction

    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

    EBI GWAS Catalog

    Description
    Meta-analysis of genome-wide association studies identifies 1q22 as a susceptibility locus for intracerebral hemorrhage.
    EBI GWAS Catalog

    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

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Readthrough PMF1-BGLAP

    Readthrough gene: PMF1-BGLAP, Included gene: BGLAP

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables leucine zipper domain binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables transcription coactivator activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in attachment of spindle microtubules to kinetochore NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in cell division IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in chromosome segregation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in chromosome segregation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of DNA-templated transcription IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in transcription by RNA polymerase II TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    		  
    part_of MIS12/MIND type complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of MIS12/MIND type complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of MIS12/MIND type complex NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
    		  
    located_in kinetochore IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in kinetochore NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleus NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in spindle pole NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    part_of transcription regulator complex TAS
    Traceable Author Statement
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    polyamine-modulated factor 1
    Names
    Est1p-like protein B (EST1B)

    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_001199653.2 → NP_001186582.1  polyamine-modulated factor 1 isoform 3

      See identical proteins and their annotated locations for NP_001186582.1

      Status: VALIDATED

      Source sequence(s)
      AL135927
      Consensus CDS
      CCDS55649.1
      UniProtKB/Swiss-Prot
      Q6P1K2
      Related
      ENSP00000357262.3, ENST00000368279.7
      Conserved Domains (1) summary
      pfam03980
      Location:71 → 127
      Nnf1; Nnf1

    2. NM_001199654.2 → NP_001186583.1  polyamine-modulated factor 1 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AL135927
      Consensus CDS
      CCDS55648.1
      UniProtKB/Swiss-Prot
      Q6P1K2
      Related
      ENSP00000357256.4, ENST00000368273.8
      Conserved Domains (1) summary
      pfam03980
      Location:91 → 171
      Nnf1; Nnf1

    3. NM_001393909.1 → NP_001380838.1  polyamine-modulated factor 1 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AL135927

    4. NM_001393910.1 → NP_001380839.1  polyamine-modulated factor 1 isoform 5

      Status: VALIDATED

      Source sequence(s)
      AL135927

    5. NM_001393911.1 → NP_001380840.1  polyamine-modulated factor 1 isoform 6

      Status: VALIDATED

      Source sequence(s)
      AL135927

    6. NM_001393912.1 → NP_001380841.1  polyamine-modulated factor 1 isoform 7

      Status: VALIDATED

      Source sequence(s)
      AL135927
      Conserved Domains (1) summary
      cl28929
      Location:67 → 114
      VirB10_like; VirB10 and similar proteins form part of core complex in Type IV secretion system (T4SS)

    7. NM_001393913.1 → NP_001380842.1  polyamine-modulated factor 1 isoform 8

      Status: VALIDATED

      Source sequence(s)
      AL135927

    8. NM_001393914.1 → NP_001380843.1  polyamine-modulated factor 1 isoform 9

      Status: VALIDATED

      Source sequence(s)
      AL135927

    9. NM_001393915.1 → NP_001380844.1  polyamine-modulated factor 1 isoform 10

      Status: VALIDATED

      Source sequence(s)
      AL135927

    10. NM_007221.4 → NP_009152.2  polyamine-modulated factor 1 isoform 2

      See identical proteins and their annotated locations for NP_009152.2

      Status: VALIDATED

      Source sequence(s)
      AL135927
      Consensus CDS
      CCDS30886.1
      UniProtKB/Swiss-Prot
      A8K0C5, Q5TCJ8, Q5TCJ9, Q5TCK0, Q5TCK1, Q5TCK3, Q69YZ9, Q6P1K2, Q6PHR4, Q6ZVE6, Q86VJ6, Q8N4T6, Q9UBQ3
      Related
      ENSP00000357260.3, ENST00000368277.3
      Conserved Domains (1) summary
      pfam03980
      Location:71 → 169
      Nnf1; Nnf1

    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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      156213007..156240042
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      155351461..155378502
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6P1K2.2 GenPept UniProtKB/Swiss-Prot:Q6P1K2

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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