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 4
  • PMF-1 Binding Protein 3
  • PMF-1-Binding Protein 4
  • SPGF31 3
  • PMFBP1 5
  • STAP 3

External Ids for PMFBP1 Gene

Previous GeneCards Identifiers for PMFBP1 Gene

  • GC16M063046
  • GC16M072876
  • GC16M071881
  • GC16M071929
  • GC16M070710
  • GC16M072152
  • GC16M057919

Summaries for PMFBP1 Gene

GeneCards Summary for PMFBP1 Gene

PMFBP1 (Polyamine Modulated Factor 1 Binding Protein 1) is a Protein Coding gene. Diseases associated with PMFBP1 include Spermatogenic Failure 31 and Male Infertility Due To Acephalic Spermatozoa.

UniProtKB/Swiss-Prot Summary for PMFBP1 Gene

  • Required for normal spermatogenesis (PubMed:1770140, PubMed:30032984, PubMed:30298696). It functions as a scaffold protein that attaches the sperm head-tail connecting piece to the nuclear envelope, thus maintaining sperm head and tail integrity (PubMed:30032984). May also be involved in the general organization of cellular cytoskeleton (By similarity).

Gene Wiki entry for PMFBP1 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PMFBP1 Gene

Genomics for PMFBP1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for PMFBP1 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 PMFBP1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PMFBP1

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

Genomic Locations for PMFBP1 Gene

Genomic Locations for PMFBP1 Gene
chr16:72,112,157-72,176,878
(GRCh38/hg38)
Size:
64,722 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:
    1007 amino acids
    Molecular mass:
    117494 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAK15456.1; Type=Erroneous initiation; Note=Truncated N-terminus.; 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:
  • Polyamine-modulated factor 1-binding protein 1 (PMFBP_HUMAN)
genes like me logo Genes that share domains with PMFBP1: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for PMFBP1 Gene

Function for PMFBP1 Gene

Molecular function for PMFBP1 Gene

UniProtKB/Swiss-Prot Function:
Required for normal spermatogenesis (PubMed:1770140, PubMed:30032984, PubMed:30298696). It functions as a scaffold protein that attaches the sperm head-tail connecting piece to the nuclear envelope, thus maintaining sperm head and tail integrity (PubMed:30032984). May also be involved in the general organization of cellular cytoskeleton (By similarity).

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

Human Phenotype Ontology for PMFBP1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PMFBP1

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

Localization for PMFBP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PMFBP1 Gene

Cell projection, cilium, flagellum. Note=Localized at the sperm head-tail connecting piece (PubMed:30032984, PubMed:30298696). During spermatogenesis, it is first observed in the cytoplasm of round spermatids, it later appears in the implantation fossa region of the sperm nucleus during sperm head elongation and differentiation, and finally it localizes to the head-tail connecting piece (By similarity). {ECO:0000250 UniProtKB:Q9WVQ0, ECO:0000269 PubMed:30032984, ECO:0000269 PubMed:30298696}.

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
cytoskeleton 1
golgi apparatus 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 --
GO:0005929 cilium IEA --
GO:0031514 motile cilium IEA --
GO:0042995 cell projection IEA --
GO:0097224 sperm connecting piece IDA 30032984
genes like me logo Genes that share ontologies with PMFBP1: view

Pathways & Interactions for PMFBP1 Gene

PathCards logo

SuperPathways for PMFBP1 Gene

No Data Available

Interacting Proteins for PMFBP1 Gene

STRING Interaction Network Preview (showing top 2 STRING interactants - click image to see details)
STRING Interaction Network
Selected Interacting proteins: ENSP00000237353 Q8TBY8-PMFBP_HUMAN for PMFBP1 Gene via STRING IID

Gene Ontology (GO) - Biological Process for PMFBP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007283 spermatogenesis IMP 30032984
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

2 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
11 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 PMFBP1

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

Expression for PMFBP1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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 30 31
  • 99.21 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia PMFBP1 30 31
  • 84.79 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia PMFBP1 30 31
  • 83.48 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Pmfbp1 30 17 31
  • 77.56 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Pmfbp1 30
  • 77.11 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia PMFBP1 31
  • 11 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia PMFBP1 31
  • 19 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia LOC100496014 30
  • 46.07 (n)
Zebrafish
(Danio rerio)
Actinopterygii PMFBP1 (1 of 2) 31
  • 20 (a)
OneToMany
PMFBP1 (2 of 2) 31
  • 11 (a)
OneToMany
Species where no ortholog for PMFBP1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PMFBP1 Gene

SNP ID Clinical significance and condition Chr 16 pos Variation AA Info Type
807468 Pathogenic: SPERMATOGENIC FAILURE 31 72,125,377(-) CTCTT/C FRAMESHIFT_VARIANT
rs140352254 Pathogenic: SPERMATOGENIC FAILURE 31 72,122,957(-) G/A NONSENSE
rs1567621034 Pathogenic: SPERMATOGENIC FAILURE 31 72,126,128(-) GC/G FRAMESHIFT_VARIANT
rs34832584 -. - p.Lys645Thrp.Thr650Lys
rs759127010 Pathogenic: SPERMATOGENIC FAILURE 31 72,154,298(-) A/T NONSENSE,FIVE_PRIME_UTR_VARIANT

Additional dbSNP identifiers (rs#s) for PMFBP1 Gene

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

MalaCards: The human disease database

(4) MalaCards diseases for PMFBP1 Gene - From: OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

PMFBP_HUMAN
  • Spermatogenic failure 31 (SPGF31) [MIM:618112]: An autosomal recessive infertility disorder caused by spermatogenesis defects that result in oligozoospermia with a high proportion of acephalic sperm. {ECO:0000269 PubMed:30032984, ECO:0000269 PubMed:30298696}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for PMFBP1

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

No data available for Genatlas for PMFBP1 Gene

Publications for PMFBP1 Gene

  1. Biallelic mutations in PMFBP1 cause acephalic spermatozoa. (PMID: 30298696) Sha YW … Wu JF (Clinical genetics 2019) 3 4
  2. Mutations in PMFBP1 Cause Acephalic Spermatozoa Syndrome. (PMID: 30032984) Zhu F … Li W (American journal of human genetics 2018) 3 4
  3. Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma. (PMID: 22001757) Chambers JC … Kooner JS (Nature genetics 2011) 3 41
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  5. 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

Products for PMFBP1 Gene

  • Signalway ELISA kits for PMFBP1

Sources for PMFBP1 Gene