U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination
    • Showing Current items.

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

    Gene ID: 11243, updated on 8-Dec-2022

    Summary

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See PMF1 in Genome Data Viewer
    Location:
    1q22
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    110 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (156213007..156240042)
    110 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 small nucleolar RNA SNORA26 Neighboring gene solute carrier family 25 member 44 Neighboring gene PMF1-BGLAP readthrough Neighboring gene BGLAP promoter region 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

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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    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 cell division IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in chromosome segregation IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    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
    PubMed 
    part_of MIS12/MIND type complex IDA
    Inferred from Direct Assay
    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
     
    part_of transcription regulator complex TAS
    Traceable Author Statement
    more info
    PubMed 

    General protein information

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

    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_001199653.2NP_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:71127
      Nnf1; Nnf1
    2. NM_001199654.2NP_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:91171
      Nnf1; Nnf1
    3. NM_001393909.1NP_001380838.1  polyamine-modulated factor 1 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AL135927
    4. NM_001393910.1NP_001380839.1  polyamine-modulated factor 1 isoform 5

      Status: VALIDATED

      Source sequence(s)
      AL135927
    5. NM_001393911.1NP_001380840.1  polyamine-modulated factor 1 isoform 6

      Status: VALIDATED

      Source sequence(s)
      AL135927
    6. NM_001393912.1NP_001380841.1  polyamine-modulated factor 1 isoform 7

      Status: VALIDATED

      Source sequence(s)
      AL135927
      Conserved Domains (1) summary
      cl28929
      Location:67114
      VirB10_like; VirB10 and similar proteins form part of core complex in Type IV secretion system (T4SS)
    7. NM_001393913.1NP_001380842.1  polyamine-modulated factor 1 isoform 8

      Status: VALIDATED

      Source sequence(s)
      AL135927
    8. NM_001393914.1NP_001380843.1  polyamine-modulated factor 1 isoform 9

      Status: VALIDATED

      Source sequence(s)
      AL135927
    9. NM_001393915.1NP_001380844.1  polyamine-modulated factor 1 isoform 10

      Status: VALIDATED

      Source sequence(s)
      AL135927
    10. NM_007221.4NP_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
      Q6P1K2, Q9UBQ3
      Related
      ENSP00000357260.3, ENST00000368277.3
      Conserved Domains (1) summary
      pfam03980
      Location:71169
      Nnf1; Nnf1

    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_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)