Aliases for PMF1 Gene

Aliases for PMF1 Gene

  • Polyamine Modulated Factor 1 2 3 5
  • Polyamine-Modulated Factor 1 3 4
  • Est1p-Like Protein B (EST1B) 3
  • PMF-1 4

External Ids for PMF1 Gene

Previous GeneCards Identifiers for PMF1 Gene

  • GC01U990242
  • GC01P152960
  • GC01P153400
  • GC01P153401
  • GC01P152996
  • GC01P154450
  • GC01P154451
  • GC01P156182
  • GC01P127544

Summaries for PMF1 Gene

GeneCards Summary for PMF1 Gene

PMF1 (Polyamine Modulated Factor 1) is a Protein Coding gene. Diseases associated with PMF1 include Plasmodium Malariae Malaria and Galloway-Mowat Syndrome. Among its related pathways are Mitotic Metaphase and Anaphase and Signaling by GPCR. Gene Ontology (GO) annotations related to this gene include transcription coactivator activity and leucine zipper domain binding. An important paralog of this gene is PMF1-BGLAP.

UniProtKB/Swiss-Prot Summary for PMF1 Gene

  • Part of the MIS12 complex which is required for normal chromosome alignment and segregation and kinetochore formation during mitosis. May act as a cotranscription partner of NFE2L2 involved in regulation of polyamine-induced transcription of SSAT.

Gene Wiki entry for PMF1 Gene

Additional gene information for PMF1 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PMF1 Gene

Genomics for PMF1 Gene

GeneHancer (GH) Regulatory Elements for PMF1 Gene

Promoters and enhancers for PMF1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J156212 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 500.7 +0.5 513 3 ZBTB40 ZNF217 EP300 ZSCAN5C NRF1 SP1 GTF2E2 PHF8 FOS ZNF639 PMF1 PMF1-BGLAP NONHSAG003110.2 lnc-PAQR6-5 SLC25A44 SEMA4A PAQR6 GBAP1 M13001 M30906-001
GH01J156239 Promoter 0.3 EPDnew 500.3 +26.7 26668 0.1 PMF1 BGLAP NONHSAG003111.2 PMF1-BGLAP
GH01J156656 Promoter/Enhancer 2.4 VISTA FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 27.1 +451.5 451478 14.9 RXRA FOXK2 HNRNPK ZBTB40 ZNF217 CTCF SIN3A NRF1 MYC TCF12 GON4L KHDC4 RRNAD1 ENSG00000237842 LMNA PRCC MSTO2P PMF1 ISG20L2 YY1AP1
GH01J155260 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 19 -950.9 -950948 3 ZBTB40 ZNF217 SIN3A NRF1 MYC TCF12 USF1 POLR2G SP1 NCOR1 NONHSAG003063.2 SCAMP3 lnc-CLK2-2 CLK2 KHDC4 GON4L ENSG00000271267 THBS3 RUSC1-AS1 SHC1
GH01J155937 Promoter/Enhancer 2 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 17.9 -269.8 -269769 10.9 EP300 FOXK2 CTCF TCF12 POLR2G SP1 NCOR1 ZIC2 KDM6A TCF7 RXFP4 CLK2 GON4L KHDC4 RRNAD1 ENSG00000271267 RUSC1-AS1 SHC1 THBS3 FLAD1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PMF1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PMF1

Top Transcription factor binding sites by QIAGEN in the PMF1 gene promoter:
  • ATF-2
  • c-Jun
  • GR
  • GR-alpha
  • GR-beta
  • HOXA5
  • TBP
  • YY1

Genomic Locations for PMF1 Gene

Genomic Locations for PMF1 Gene
chr1:156,212,988-156,240,077
(GRCh38/hg38)
Size:
27,090 bases
Orientation:
Plus strand
chr1:156,182,779-156,212,874
(GRCh37/hg19)
Size:
30,096 bases
Orientation:
Plus strand

Genomic View for PMF1 Gene

Genes around PMF1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PMF1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PMF1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PMF1 Gene

Proteins for PMF1 Gene

  • Protein details for PMF1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6P1K2-PMF1_HUMAN
    Recommended name:
    Polyamine-modulated factor 1
    Protein Accession:
    Q6P1K2
    Secondary Accessions:
    • A8K0C5
    • Q5TCJ8
    • Q5TCJ9
    • Q5TCK0
    • Q5TCK1
    • Q5TCK3
    • Q69YZ9
    • Q6PHR4
    • Q6ZVE6
    • Q86VJ6
    • Q8N4T6
    • Q9UBQ3

    Protein attributes for PMF1 Gene

    Size:
    205 amino acids
    Molecular mass:
    23339 Da
    Quaternary structure:
    • Component of the MIS12 complex composed of MIS12, DSN1, NSL1 and PMF1. Interacts with COPS7A. Interacts via its coiled-coil domain with the leucine-zipper domain of NFE2L2. The interaction with NFE2L2 is required for the transcriptional regulation of SSAT.
    SequenceCaution:
    • Sequence=AAD50081.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=CAH10730.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=CAH10730.1; Type=Frameshift; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for PMF1 Gene

    Alternative splice isoforms for PMF1 Gene

neXtProt entry for PMF1 Gene

Post-translational modifications for PMF1 Gene

  • Ubiquitination at Lys36 and Lys154
  • Modification sites at PhosphoSitePlus

Other Protein References for PMF1 Gene

No data available for DME Specific Peptides for PMF1 Gene

Domains & Families for PMF1 Gene

Gene Families for PMF1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for PMF1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for PMF1 Gene

GenScript: Design optimal peptide antigens:
  • Polyamine-modulated factor 1 (PMF1_HUMAN)
genes like me logo Genes that share domains with PMF1: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for PMF1 Gene

Function for PMF1 Gene

Molecular function for PMF1 Gene

UniProtKB/Swiss-Prot Function:
Part of the MIS12 complex which is required for normal chromosome alignment and segregation and kinetochore formation during mitosis. May act as a cotranscription partner of NFE2L2 involved in regulation of polyamine-induced transcription of SSAT.
UniProtKB/Swiss-Prot Induction:
By polyamine analogs in analog-sensitive H157 cells.
GENATLAS Biochemistry:
polyamine-modulated factor 1,coregulator of the transcription of the spermidine/spermine N-acetyltransferase gene (SAT),induced by polyamine analog

Phenotypes From GWAS Catalog for PMF1 Gene

Gene Ontology (GO) - Molecular Function for PMF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003713 transcription coactivator activity IMP,TAS 11256947
GO:0005515 protein binding IPI 15371340
GO:0043522 leucine zipper domain binding IPI 11256947
genes like me logo Genes that share ontologies with PMF1: view
genes like me logo Genes that share phenotypes with PMF1: view

Animal Model Products

CRISPR Products

miRNA for PMF1 Gene

miRTarBase miRNAs that target PMF1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PMF1

Clone Products

  • Addgene plasmids for PMF1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PMF1 Gene

Localization for PMF1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PMF1 Gene

Nucleus. Chromosome, centromere, kinetochore. Note=Associated with the kinetochore.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PMF1 gene
Compartment Confidence
nucleus 4
cytosol 4
golgi apparatus 4
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PMF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000444 MIS12/MIND type complex IDA 16585270
GO:0000775 chromosome, centromeric region IEA --
GO:0000776 kinetochore IEA --
GO:0000777 condensed chromosome kinetochore IDA 15371340
GO:0000818 nuclear MIS12/MIND complex IEA,IBA 21873635
genes like me logo Genes that share ontologies with PMF1: view

Pathways & Interactions for PMF1 Gene

genes like me logo Genes that share pathways with PMF1: view

Pathways by source for PMF1 Gene

Gene Ontology (GO) - Biological Process for PMF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006366 transcription by RNA polymerase II TAS 10419538
GO:0007049 cell cycle IEA --
GO:0007059 chromosome segregation IMP,IBA 15502821
GO:0051301 cell division IEA --
GO:1903508 positive regulation of nucleic acid-templated transcription IEA --
genes like me logo Genes that share ontologies with PMF1: view

No data available for SIGNOR curated interactions for PMF1 Gene

Drugs & Compounds for PMF1 Gene

(3) Drugs for PMF1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
putrescine Experimental Pharma Antagonist, Pore Blocker 0
spermidine Experimental Pharma Antagonist, Pore Blocker 0
spermine Experimental Nutra Full agonist, Agonist, Antagonist, Pore Blocker, Channel blocker 0

(2) Additional Compounds for PMF1 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
N1-acetylspermine
  • N'-acetylspermine
  • N'-monoacetylspermine
  • N(1)-Acetylspermine
  • N-(3-((4-((3-Aminopropyl)amino)butyl)amino)propyl)-acetamide
  • N-Acetylspermine
25593-72-0
Norspermidine
  • 1,7-diamino-4-Azaheptane
  • 3,3'-Iminobis(propylamine)
  • 3,3'-Iminobispropylamine
  • 3,3'-Iminodi(propylamine)
  • 3,3-Diaminodipropylamine
56-18-8
genes like me logo Genes that share compounds with PMF1: view

Transcripts for PMF1 Gene

mRNA/cDNA for PMF1 Gene

3 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PMF1

Clone Products

  • Addgene plasmids for PMF1

Alternative Splicing Database (ASD) splice patterns (SP) for PMF1 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b · 7c ^ 8a · 8b · 8c · 8d ^ 9 ^ 10 ^ 11 ^ 12a · 12b · 12c · 12d
SP1: - - - - - - - - -
SP2: - - - - - - - - - -
SP3: - - - - - - - - - - -
SP4: - - -
SP5: - - - - -
SP6: - - - -
SP7: - - - -
SP8:
SP9:
SP10: - - - -

Relevant External Links for PMF1 Gene

GeneLoc Exon Structure for
PMF1

Expression for PMF1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PMF1 Gene

Protein differential expression in normal tissues from HIPED for PMF1 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (15.7), Monocytes (7.4), and Pancreas (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PMF1 Gene



Protein tissue co-expression partners for PMF1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PMF1

SOURCE GeneReport for Unigene cluster for PMF1 Gene:

Hs.530479

mRNA Expression by UniProt/SwissProt for PMF1 Gene:

Q6P1K2-PMF1_HUMAN
Tissue specificity: Highest levels of expression in heart and skeletal muscle, with significant levels expressed in kidney and liver.

Evidence on tissue expression from TISSUES for PMF1 Gene

  • Nervous system(4.6)
  • Intestine(4.1)
  • Lung(2.9)
genes like me logo Genes that share expression patterns with PMF1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for PMF1 Gene

Orthologs for PMF1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for PMF1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PMF1 30
  • 99.19 (n)
-- 31
  • 47 (a)
OneToMany
cow
(Bos Taurus)
Mammalia PMF1 31 30
  • 85.2 (n)
OneToMany
mouse
(Mus musculus)
Mammalia Pmf1 31 30
  • 79.87 (n)
OneToMany
rat
(Rattus norvegicus)
Mammalia Pmf1 30
  • 79.23 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 58 (a)
OneToMany
dog
(Canis familiaris)
Mammalia -- 31
  • 43 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 40 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia pmf1 30
  • 63.24 (n)
zebrafish
(Danio rerio)
Actinopterygii im:6898523 30
  • 51.21 (n)
PMF1 31
  • 18 (a)
OneToMany
Species where no ortholog for PMF1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for PMF1 Gene

ENSEMBL:
Gene Tree for PMF1 (if available)
TreeFam:
Gene Tree for PMF1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PMF1: view image

Paralogs for PMF1 Gene

Paralogs for PMF1 Gene

(1) SIMAP similar genes for PMF1 Gene using alignment to 3 proteins:

  • PMF1_HUMAN
  • V9GYH6_HUMAN
  • V9GYI0_HUMAN
genes like me logo Genes that share paralogs with PMF1: view

Variants for PMF1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PMF1 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
rs1052053 - p.Gln75Arg
rs1052067 - p.Met137Ile

Additional dbSNP identifiers (rs#s) for PMF1 Gene

Structural Variations from Database of Genomic Variants (DGV) for PMF1 Gene

Variant ID Type Subtype PubMed ID
esv2677774 CNV deletion 23128226
esv6098 CNV gain 19470904
nsv509524 CNV insertion 20534489

Variation tolerance for PMF1 Gene

Residual Variation Intolerance Score: 88% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.06; 37.82% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PMF1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PMF1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PMF1 Gene

Disorders for PMF1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for PMF1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
plasmodium malariae malaria
  • malaria by plasmodium malariae
galloway-mowat syndrome
  • microcephaly, hiatal hernia, and nephrotic syndrome
- elite association - COSMIC cancer census association via MalaCards
Search PMF1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for PMF1

genes like me logo Genes that share disorders with PMF1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PMF1 Gene

Publications for PMF1 Gene

  1. Cloning and characterization of human polyamine-modulated factor-1, a transcriptional cofactor that regulates the transcription of the spermidine/spermine N(1)-acetyltransferase gene. (PMID: 10419538) Wang Y … Casero RA (The Journal of biological chemistry 1999) 2 3 4 54
  2. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4 54
  3. The human Mis12 complex is required for kinetochore assembly and proper chromosome segregation. (PMID: 16585270) Kline SL … Desai A (The Journal of cell biology 2006) 3 4 54
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 54
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54

Products for PMF1 Gene

Sources for PMF1 Gene