This locus represents naturally occurring read-through transcription between the neighboring PMF1 (polyamine-modulated factor 1) and BGLAP (bone gamma-carboxyglutamate Gla protein) genes on chromosome 1. Alternative splicing results in multiple transcript variants encoding isoforms that share sequence identity with the upstream gene product, but they contain distinct C-termini ... See more...

Aliases for PMF1-BGLAP Gene

Aliases for PMF1-BGLAP Gene

  • PMF1-BGLAP Readthrough 2 3 5 13
  • Polyamine-Modulated Factor 1 3
  • PMF1-BGLAP Protein 3
  • HCG2044777 13
  • PMF-1 3
  • PMF1 3

External Ids for PMF1-BGLAP Gene

Previous GeneCards Identifiers for PMF1-BGLAP Gene

  • GC01U903096
  • GC01P156183

Summaries for PMF1-BGLAP Gene

Entrez Gene Summary for PMF1-BGLAP Gene

  • This locus represents naturally occurring read-through transcription between the neighboring PMF1 (polyamine-modulated factor 1) and BGLAP (bone gamma-carboxyglutamate Gla protein) genes on chromosome 1. Alternative splicing results in multiple transcript variants encoding isoforms that share sequence identity with the upstream gene product, but they contain distinct C-termini due to frameshifts versus the downstream gene coding sequence. [provided by RefSeq, Dec 2010]

GeneCards Summary for PMF1-BGLAP Gene

PMF1-BGLAP (PMF1-BGLAP Readthrough) is a Protein Coding gene. Diseases associated with PMF1-BGLAP include Plasmodium Malariae Malaria. An important paralog of this gene is PMF1.

Additional gene information for PMF1-BGLAP Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PMF1-BGLAP Gene

Genomics for PMF1-BGLAP Gene

GeneHancer (GH) Regulatory Elements for PMF1-BGLAP Gene

Promoters and enhancers for PMF1-BGLAP Gene
- 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-BGLAP on UCSC Golden Path with GeneCards custom track

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

Genomic Locations for PMF1-BGLAP Gene

Genomic Locations for PMF1-BGLAP Gene
chr1:156,212,982-156,243,332
(GRCh38/hg38)
Size:
30,351 bases
Orientation:
Plus strand
chr1:156,182,773-156,213,123
(GRCh37/hg19)
Size:
30,351 bases
Orientation:
Plus strand

Genomic View for PMF1-BGLAP Gene

Genes around PMF1-BGLAP on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PMF1-BGLAP 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-BGLAP Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PMF1-BGLAP Gene

Proteins for PMF1-BGLAP Gene

  • Protein details for PMF1-BGLAP Gene (UniProtKB/TrEMBL)

    Protein Symbol:
    U3KQ54-U3KQ54_HUMAN
    Recommended name:
    HCG2044777
    Protein Accession:
    U3KQ54

    Protein attributes for PMF1-BGLAP Gene

    Size:
    211 amino acids
    Molecular mass:
    23769 Da
    Quaternary structure:
    No Data Available
  • Protein details for PMF1-BGLAP Gene (UniProtKB/TrEMBL)

    Protein Symbol:
    A0A087WT04-A0A087WT04_HUMAN
    Recommended name:
    PMF1-BGLAP readthrough
    Protein Accession:
    A0A087WT04

    Protein attributes for PMF1-BGLAP Gene

    Size:
    142 amino acids
    Molecular mass:
    15681 Da
    Quaternary structure:
    No Data Available

neXtProt entry for PMF1-BGLAP Gene

Post-translational modifications for PMF1-BGLAP Gene

No Post-translational modifications

Other Protein References for PMF1-BGLAP Gene

No data available for DME Specific Peptides for PMF1-BGLAP Gene

Domains & Families for PMF1-BGLAP Gene

Gene Families for PMF1-BGLAP Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for PMF1-BGLAP Gene

InterPro:
ProtoNet:
genes like me logo Genes that share domains with PMF1-BGLAP: view

No data available for Suggested Antigen Peptide Sequences , Graphical View of Domain Structure and UniProtKB/Swiss-Prot for PMF1-BGLAP Gene

Function for PMF1-BGLAP Gene

Phenotypes From GWAS Catalog for PMF1-BGLAP Gene

genes like me logo Genes that share phenotypes with PMF1-BGLAP: view

Animal Model Products

CRISPR Products

miRNA for PMF1-BGLAP Gene

miRTarBase miRNAs that target PMF1-BGLAP

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PMF1-BGLAP Gene

Localization for PMF1-BGLAP Gene

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-BGLAP 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-BGLAP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005794 Golgi apparatus IDA --
GO:0043231 intracellular membrane-bounded organelle IDA --
genes like me logo Genes that share ontologies with PMF1-BGLAP: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for PMF1-BGLAP Gene

Pathways & Interactions for PMF1-BGLAP Gene

PathCards logo

SuperPathways for PMF1-BGLAP Gene

No Data Available

Interacting Proteins for PMF1-BGLAP Gene

;

Gene Ontology (GO) - Biological Process for PMF1-BGLAP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007059 chromosome segregation IBA --
genes like me logo Genes that share ontologies with PMF1-BGLAP: view

No data available for Pathways by source and SIGNOR curated interactions for PMF1-BGLAP Gene

Drugs & Compounds for PMF1-BGLAP Gene

No Compound Related Data Available

Transcripts for PMF1-BGLAP Gene

mRNA/cDNA for PMF1-BGLAP Gene

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

CRISPR Products

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

No ASD Table

Relevant External Links for PMF1-BGLAP Gene

GeneLoc Exon Structure for
PMF1-BGLAP

Expression for PMF1-BGLAP Gene

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

genes like me logo Genes that share expression patterns with PMF1-BGLAP: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for PMF1-BGLAP Gene

Orthologs for PMF1-BGLAP Gene

This gene was present in the common ancestor of chordates.

Orthologs for PMF1-BGLAP Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PMF1 30
  • 99.24 (n)
-- 31
  • 47 (a)
OneToMany
cow
(Bos Taurus)
Mammalia PMF1 31 30
  • 84.57 (n)
OneToMany
rat
(Rattus norvegicus)
Mammalia Pmf1 30
  • 79.3 (n)
mouse
(Mus musculus)
Mammalia Pmf1 17 31 30
  • 79.26 (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
  • 64.1 (n)
zebrafish
(Danio rerio)
Actinopterygii im:6898523 30
  • 51.21 (n)
PMF1 31
  • 18 (a)
OneToMany
Species where no ortholog for PMF1-BGLAP 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-BGLAP Gene

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

Paralogs for PMF1-BGLAP Gene

Paralogs for PMF1-BGLAP Gene

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

  • U3KQ54_HUMAN
genes like me logo Genes that share paralogs with PMF1-BGLAP: view

Variants for PMF1-BGLAP Gene

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

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
780264 Benign: not provided 156,243,140(+) G/A MISSENSE_VARIANT,THREE_PRIME_UTR_VARIANT

Additional dbSNP identifiers (rs#s) for PMF1-BGLAP Gene

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

Variant ID Type Subtype PubMed ID
esv2677774 CNV deletion 23128226
esv6098 CNV gain 19470904
nsv509524 CNV insertion 20534489
nsv547967 CNV gain 21841781

Variation tolerance for PMF1-BGLAP Gene

Residual Variation Intolerance Score: 90.6% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PMF1-BGLAP Gene

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

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

Disorders for PMF1-BGLAP Gene

MalaCards: The human disease database

(1) MalaCards diseases for PMF1-BGLAP Gene - From: DISEASES

Disorder Aliases PubMed IDs
plasmodium malariae malaria
  • malaria by plasmodium malariae
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for PMF1-BGLAP

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

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

Publications for PMF1-BGLAP Gene

  1. RNA-binding activity of TRIM25 is mediated by its PRY/SPRY domain and is required for ubiquitination. (PMID: 29117863) Choudhury NR … Michlewski G (BMC biology 2017) 3 54
  2. A High-Density Map for Navigating the Human Polycomb Complexome. (PMID: 27705803) Hauri S … Beisel C (Cell reports 2016) 3 54
  3. Meta-analysis of genome-wide association studies identifies 1q22 as a susceptibility locus for intracerebral hemorrhage. (PMID: 24656865) Woo D … International Stroke Genetics Consortium (American journal of human genetics 2014) 3 54
  4. Expression of conjoined genes: another mechanism for gene regulation in eukaryotes. (PMID: 20967262) Prakash T … Taylor TD (PloS one 2010) 3 54
  5. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 13 54

Products for PMF1-BGLAP Gene

Sources for PMF1-BGLAP Gene