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

Gene ID: 11243, updated on 11-Apr-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
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Genomic context

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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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