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Aliases for PMFBP1 Gene

Aliases for PMFBP1 Gene

  • Polyamine Modulated Factor 1 Binding Protein 1 2 3 5
  • Polyamine-Modulated Factor 1-Binding Protein 1 3
  • PMF-1 Binding Protein 3
  • PMF-1-Binding Protein 4

External Ids for PMFBP1 Gene

Previous GeneCards Identifiers for PMFBP1 Gene

  • GC16M063046
  • GC16M072876
  • GC16M071881
  • GC16M071929
  • GC16M070710
  • GC16M057919

Summaries for PMFBP1 Gene

GeneCards Summary for PMFBP1 Gene

PMFBP1 (Polyamine Modulated Factor 1 Binding Protein 1) is a Protein Coding gene.

UniProtKB/Swiss-Prot for PMFBP1 Gene

  • May play a role in sperm morphology especially the sperm tail and consequently affect fertility. May also be involved in the general organization of cellular cytoskeleton.

Gene Wiki entry for PMFBP1 Gene

Additional gene information for PMFBP1 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PMFBP1 Gene

Genomics for PMFBP1 Gene

GeneHancer (GH) Regulatory Elements for PMFBP1 Gene

Promoters and enhancers for PMFBP1 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
GH16J072223 Promoter/Enhancer 1.5 EPDnew FANTOM5 ENCODE 661.1 -47.5 -47479 1 FOXA2 RARA CREM HMG20B RXRA CEBPB PPARG TGIF2 SP1 ATF4 PMFBP1 ENSG00000261673 DHODH LOC105371341
GH16J071707 Enhancer 1.2 FANTOM5 Ensembl ENCODE 40.3 +468.1 468148 3.3 USF1 TEAD4 MAX BACH1 RAD21 FOSL1 ZNF664 ZNF121 GATA3 ZNF316 ZNF19 PMFBP1 PHLPP2 MARVELD3 RNU6-208P HPR HYDIN SNORA70D ENSG00000261513
GH16J072189 Enhancer 1.3 FANTOM5 Ensembl ENCODE dbSUPER 7.6 -13.0 -13033 1.5 HDAC1 MEIS2 PKNOX1 JUN BACH1 ZNF644 FOSL1 NFE2 SMARCE1 AFF1 IST1 HPR PMFBP1 HP AP1G1 DHX38 ATXN1L LOC105371341
GH16J073144 Enhancer 0.8 FANTOM5 10.2 -965.2 -965208 0.3 FOXA2 JUN MAX BRCA1 RAD21 RARA RFX5 YY1 HNF4G RCOR1 PMFBP1 C16orf47 ENSG00000284675 ZFHX3
GH16J072215 Enhancer 0.7 ENCODE 11.1 -39.5 -39549 2.1 MXI1 SAP130 CEBPG ZNF644 RBPJ ETS1 TEAD3 HOMEZ MIXL1 GATAD2A PMFBP1 DHODH HPR PHLPP2 ENSG00000261673 LOC105371341
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PMFBP1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PMFBP1 gene promoter:
  • POU2F1
  • POU2F1a
  • TFIID
  • TBP
  • USF1
  • USF-1
  • Nkx3-1 v3
  • C/EBPbeta
  • Nkx3-1
  • Nkx3-1 v1

Genomic Locations for PMFBP1 Gene

Genomic Locations for PMFBP1 Gene
chr16:72,112,157-72,177,002
(GRCh38/hg38)
Size:
64,846 bases
Orientation:
Minus strand
chr16:72,146,056-72,210,777
(GRCh37/hg19)
Size:
64,722 bases
Orientation:
Minus strand

Genomic View for PMFBP1 Gene

Genes around PMFBP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PMFBP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PMFBP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PMFBP1 Gene

Proteins for PMFBP1 Gene

  • Protein details for PMFBP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8TBY8-PMFBP_HUMAN
    Recommended name:
    Polyamine-modulated factor 1-binding protein 1
    Protein Accession:
    Q8TBY8
    Secondary Accessions:
    • B3KVI9
    • G3V1Q7
    • H7BY07
    • Q8NA09
    • Q9BY16
    • Q9H0H4

    Protein attributes for PMFBP1 Gene

    Size:
    1022 amino acids
    Molecular mass:
    119079 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAK15456.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for PMFBP1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PMFBP1 Gene

Post-translational modifications for PMFBP1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for PMFBP1 Gene

Domains & Families for PMFBP1 Gene

Gene Families for PMFBP1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for PMFBP1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for PMFBP1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with PMFBP1: view

No data available for UniProtKB/Swiss-Prot for PMFBP1 Gene

Function for PMFBP1 Gene

Molecular function for PMFBP1 Gene

UniProtKB/Swiss-Prot Function:
May play a role in sperm morphology especially the sperm tail and consequently affect fertility. May also be involved in the general organization of cellular cytoskeleton.

Phenotypes From GWAS Catalog for PMFBP1 Gene

Gene Ontology (GO) - Molecular Function for PMFBP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
genes like me logo Genes that share ontologies with PMFBP1: view

Phenotypes for PMFBP1 Gene

genes like me logo Genes that share phenotypes with PMFBP1: view

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for PMFBP1 Gene

Localization for PMFBP1 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 PMFBP1 gene
Compartment Confidence
nucleus 3
cytosol 2
extracellular 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Endoplasmic reticulum (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PMFBP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with PMFBP1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for PMFBP1 Gene

Pathways & Interactions for PMFBP1 Gene

SuperPathways for PMFBP1 Gene

No Data Available

Interacting Proteins for PMFBP1 Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
http://version10.5.string-db.org/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000237353%0d%0a9606.ENSP00000323527%0d%0a
Selected Interacting proteins: ENSP00000237353 for PMFBP1 Gene via STRING

Symbol External ID(s) Details
MKLN1

Gene Ontology (GO) - Biological Process for PMFBP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008150 biological_process ND --
genes like me logo Genes that share ontologies with PMFBP1: view

No data available for Pathways by source and SIGNOR curated interactions for PMFBP1 Gene

Drugs & Compounds for PMFBP1 Gene

No Compound Related Data Available

Transcripts for PMFBP1 Gene

mRNA/cDNA for PMFBP1 Gene

Unigene Clusters for PMFBP1 Gene

Polyamine modulated factor 1 binding protein 1:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for PMFBP1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21a · 21b ^ 22
SP1: -
SP2: -
SP3:

Relevant External Links for PMFBP1 Gene

GeneLoc Exon Structure for
PMFBP1
ECgene alternative splicing isoforms for
PMFBP1

Expression for PMFBP1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PMFBP1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PMFBP1 Gene

This gene is overexpressed in Testis (x23.4) and Pancreas (x4.2).

Protein differential expression in normal tissues from HIPED for PMFBP1 Gene

This gene is overexpressed in Urine (40.7), Serum (18.1), and Plasma (6.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for PMFBP1 Gene



NURSA nuclear receptor signaling pathways regulating expression of PMFBP1 Gene:

PMFBP1

SOURCE GeneReport for Unigene cluster for PMFBP1 Gene:

Hs.714939
genes like me logo Genes that share expression patterns with PMFBP1: view

No data available for 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 PMFBP1 Gene

Orthologs for PMFBP1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for PMFBP1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PMFBP1 34 33
  • 99.21 (n)
OneToOne
dog
(Canis familiaris)
Mammalia PMFBP1 34 33
  • 84.79 (n)
OneToOne
cow
(Bos Taurus)
Mammalia PMFBP1 34 33
  • 83.48 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Pmfbp1 16 34 33
  • 77.56 (n)
rat
(Rattus norvegicus)
Mammalia Pmfbp1 33
  • 77.11 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia PMFBP1 34
  • 11 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PMFBP1 34
  • 19 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100496014 33
  • 46.07 (n)
zebrafish
(Danio rerio)
Actinopterygii PMFBP1 (1 of 2) 34
  • 20 (a)
OneToMany
PMFBP1 (2 of 2) 34
  • 11 (a)
OneToMany
Species where no ortholog for PMFBP1 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)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • 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 PMFBP1 Gene

ENSEMBL:
Gene Tree for PMFBP1 (if available)
TreeFam:
Gene Tree for PMFBP1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PMFBP1: view image

Paralogs for PMFBP1 Gene

No data available for Paralogs for PMFBP1 Gene

Variants for PMFBP1 Gene

Sequence variations from dbSNP and Humsavar for PMFBP1 Gene

SNP ID Clin Chr 16 pos Variation AA Info Type
rs1000105982 -- 72,140,464(-) T/A coding_sequence_variant, missense_variant
rs1000259023 -- 72,143,935(-) G/C intron_variant
rs1000309919 -- 72,144,256(-) A/G intron_variant
rs1000337368 -- 72,137,420(-) A/G intron_variant
rs1000377474 -- 72,143,809(-) G/C intron_variant

Structural Variations from Database of Genomic Variants (DGV) for PMFBP1 Gene

Variant ID Type Subtype PubMed ID
dgv3017n100 CNV gain 25217958
esv2714683 CNV deletion 23290073
esv2758654 CNV gain 17122850
esv3571476 CNV gain 25503493
nsv1865 CNV insertion 18451855
nsv428329 CNV gain 18775914
nsv7285 OTHER inversion 18451855

Variation tolerance for PMFBP1 Gene

Residual Variation Intolerance Score: 63% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 17.83; 98.35% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PMFBP1 Gene

Human Gene Mutation Database (HGMD)
PMFBP1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PMFBP1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PMFBP1 Gene

Disorders for PMFBP1 Gene

Additional Disease Information for PMFBP1

No disorders were found for PMFBP1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for PMFBP1 Gene

Publications for PMFBP1 Gene

  1. Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma. (PMID: 22001757) Chambers JC … Kooner JS (Nature genetics 2011) 3 44 58
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  3. Characterization of a novel gene, sperm-tail-associated protein (Stap), in mouse post-meiotic testicular germ cells. (PMID: 11468771) Ohuchi J … Watanabe T (Molecular reproduction and development 2001) 2 3 58
  4. Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PMID: 11230166) Wiemann S … Poustka A (Genome research 2001) 3 4 58
  5. An organelle-specific protein landscape identifies novel diseases and molecular mechanisms. (PMID: 27173435) Boldt K … UK10K Rare Diseases Group (Nature communications 2016) 3 58

Products for PMFBP1 Gene

Sources for PMFBP1 Gene

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