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Aliases for FRMPD1 Gene

Aliases for FRMPD1 Gene

  • FERM And PDZ Domain Containing 1 2 3 5
  • FERM Domain-Containing Protein 2 3 4
  • FRMD2 3 4
  • FERM And PDZ Domain-Containing Protein 1 3
  • KIAA0967 4

External Ids for FRMPD1 Gene

Previous GeneCards Identifiers for FRMPD1 Gene

  • GC09P037642
  • GC09P037643

Summaries for FRMPD1 Gene

GeneCards Summary for FRMPD1 Gene

FRMPD1 (FERM And PDZ Domain Containing 1) is a Protein Coding gene. An important paralog of this gene is FRMPD4.

UniProtKB/Swiss-Prot for FRMPD1 Gene

  • Stabilizes membrane-bound GPSM1, and thereby promotes its interaction with GNAI1.

Additional gene information for FRMPD1 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FRMPD1 Gene

Genomics for FRMPD1 Gene

GeneHancer (GH) Regulatory Elements for FRMPD1 Gene

Promoters and enhancers for FRMPD1 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
GH09I037650 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE 550.2 +48.0 47951 0.3 ZSCAN5A CTCF MXI1 KLF1 RB1 ZNF449 SUZ12 ZNF223 ZEB1 HIC1 FRMPD1 GC09M037661 RN7SKP171 RAB1C ENSG00000255872
GH09I037679 Promoter 1 EPDnew 561.2 +76.1 76127 0.1 HDAC1 PKNOX1 SMAD1 NFIB TEAD4 TAL1 FOSL1 TCF12 CTBP1 NCOR1 FRMPD1 TOMM5 ENSG00000256966 FBXO10 RN7SKP171 GC09M037661 TRMT10B ENSG00000255872
GH09I037602 Enhancer 0.7 ENCODE 550.8 0.0 -29 1 FOXA2 NFIB ZBTB21 MAX RAD21 YY1 CTBP1 HNF4G NFIA ZNF189 FRMPD1 POLR1E TOMM5 ENSG00000255872
GH09I037485 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 9.7 -116.2 -116177 3.5 HDGF FOXA2 PKNOX1 SMAD1 ARNT ARID4B SIN3A DMAP1 YY1 POLR2B POLR1E RPL21P83 ZCCHC7 EXOSC3 ZBTB5 FBXO10 ENSG00000234160 DCAF10 ENSG00000256966 TOMM5
GH09I037706 Enhancer 0.6 ENCODE 24.9 +103.5 103504 1 ZBTB11 ZFP64 ZC3H11A REST ZNF781 ZNF518A ZNF697 ZNF664 ZNF555 ZNF366 FRMPD1 ZCCHC7 ZBTB5 DCAF10 TMX2P1 EXOSC3 RPL21P83 GC09M037661 RN7SKP171 TRMT10B
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around FRMPD1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the FRMPD1 gene promoter:

Genomic Locations for FRMPD1 Gene

Genomic Locations for FRMPD1 Gene
chr9:37,602,978-37,746,904
(GRCh38/hg38)
Size:
143,927 bases
Orientation:
Plus strand
chr9:37,650,997-37,746,901
(GRCh37/hg19)

Genomic View for FRMPD1 Gene

Genes around FRMPD1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FRMPD1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FRMPD1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FRMPD1 Gene

Proteins for FRMPD1 Gene

  • Protein details for FRMPD1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5SYB0-FRPD1_HUMAN
    Recommended name:
    FERM and PDZ domain-containing protein 1
    Protein Accession:
    Q5SYB0
    Secondary Accessions:
    • B4DZC8
    • B7Z807
    • D3DRQ3
    • Q14C73
    • Q5HY96
    • Q9Y2H3

    Protein attributes for FRMPD1 Gene

    Size:
    1578 amino acids
    Molecular mass:
    173437 Da
    Quaternary structure:
    • Interacts with GPSM1 (PubMed:18566450). Interacts with GPSM2 (via TPR repeat region) (PubMed:23318951).

    Three dimensional structures from OCA and Proteopedia for FRMPD1 Gene

    Alternative splice isoforms for FRMPD1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for FRMPD1 Gene

Post-translational modifications for FRMPD1 Gene

No Post-translational modifications

No data available for DME Specific Peptides for FRMPD1 Gene

Domains & Families for FRMPD1 Gene

Gene Families for FRMPD1 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with FRMPD1: view

No data available for UniProtKB/Swiss-Prot for FRMPD1 Gene

Function for FRMPD1 Gene

Molecular function for FRMPD1 Gene

UniProtKB/Swiss-Prot Function:
Stabilizes membrane-bound GPSM1, and thereby promotes its interaction with GNAI1.

Phenotypes From GWAS Catalog for FRMPD1 Gene

Gene Ontology (GO) - Molecular Function for FRMPD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 18566450
genes like me logo Genes that share ontologies with FRMPD1: view
genes like me logo Genes that share phenotypes with FRMPD1: view

miRNA for FRMPD1 Gene

miRTarBase miRNAs that target FRMPD1

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for FRMPD1 Gene

Localization for FRMPD1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for FRMPD1 Gene

Cytoplasm, cytosol. Cell membrane; Peripheral membrane protein; Cytoplasmic side. Note=Found both in the cytoplasm and associated with the cell membrane. {ECO:0000269 PubMed:18566450}.

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 FRMPD1 gene
Compartment Confidence
extracellular 5
plasma membrane 4
cytosol 4
cytoskeleton 2
nucleus 2

Gene Ontology (GO) - Cellular Components for FRMPD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol IEA --
GO:0005856 cytoskeleton IEA --
GO:0005886 plasma membrane IMP 18566450
GO:0005938 colocalizes_with cell cortex IMP 18566450
genes like me logo Genes that share ontologies with FRMPD1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for FRMPD1 Gene

Pathways & Interactions for FRMPD1 Gene

SuperPathways for FRMPD1 Gene

No Data Available

Interacting Proteins for FRMPD1 Gene

Gene Ontology (GO) - Biological Process for FRMPD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008277 regulation of G-protein coupled receptor protein signaling pathway IMP 18566450
GO:0090150 establishment of protein localization to membrane IMP 18566450
genes like me logo Genes that share ontologies with FRMPD1: view

No data available for Pathways by source and SIGNOR curated interactions for FRMPD1 Gene

Drugs & Compounds for FRMPD1 Gene

No Compound Related Data Available

Transcripts for FRMPD1 Gene

Unigene Clusters for FRMPD1 Gene

FERM and PDZ domain containing 1:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for FRMPD1 Gene

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

Relevant External Links for FRMPD1 Gene

GeneLoc Exon Structure for
FRMPD1
ECgene alternative splicing isoforms for
FRMPD1

Expression for FRMPD1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for FRMPD1 Gene

mRNA differential expression in normal tissues according to GTEx for FRMPD1 Gene

This gene is overexpressed in Testis (x11.6) and Skin - Not Sun Exposed (Suprapubic) (x4.0).

Protein differential expression in normal tissues from HIPED for FRMPD1 Gene

This gene is overexpressed in Urine (22.5), Bone marrow stromal cell (17.7), Retina (7.9), and Seminal vesicle (7.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for FRMPD1 Gene



NURSA nuclear receptor signaling pathways regulating expression of FRMPD1 Gene:

FRMPD1

SOURCE GeneReport for Unigene cluster for FRMPD1 Gene:

Hs.163990

Evidence on tissue expression from TISSUES for FRMPD1 Gene

  • Nervous system(4.3)
  • Eye(4.1)
genes like me logo Genes that share expression patterns with FRMPD1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for FRMPD1 Gene

Orthologs for FRMPD1 Gene

This gene was present in the common ancestor of animals.

Orthologs for FRMPD1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FRMPD1 33 34
  • 99.51 (n)
dog
(Canis familiaris)
Mammalia FRMPD1 33 34
  • 87.72 (n)
cow
(Bos Taurus)
Mammalia FRMPD1 33 34
  • 86.43 (n)
rat
(Rattus norvegicus)
Mammalia Frmpd1 33
  • 81.31 (n)
mouse
(Mus musculus)
Mammalia Frmpd1 33 16 34
  • 81.3 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 77 (a)
OneToMany
-- 34
  • 51 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia FRMPD1 34
  • 59 (a)
OneToOne
chicken
(Gallus gallus)
Aves FRMPD1 33 34
  • 63.54 (n)
lizard
(Anolis carolinensis)
Reptilia FRMPD1 34
  • 43 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia frmpd1 33
  • 59.34 (n)
zebrafish
(Danio rerio)
Actinopterygii CU638740.4 34
  • 65 (a)
OneToMany
FRMPD1 (6 of 6) 34
  • 48 (a)
OneToMany
BX088718.4 34
  • 47 (a)
OneToMany
FRMPD1 (1 of 6) 34
  • 33 (a)
OneToMany
FRMPD1 (5 of 6) 34
  • 30 (a)
OneToMany
FRMPD1 (3 of 6) 34
  • 19 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG42788 34
  • 18 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea frm-8 34
  • 23 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 25 (a)
OneToMany
Species where no ortholog for FRMPD1 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)
  • 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)
  • 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)
  • 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 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)

Evolution for FRMPD1 Gene

ENSEMBL:
Gene Tree for FRMPD1 (if available)
TreeFam:
Gene Tree for FRMPD1 (if available)

Paralogs for FRMPD1 Gene

Paralogs for FRMPD1 Gene

genes like me logo Genes that share paralogs with FRMPD1: view

Variants for FRMPD1 Gene

Sequence variations from dbSNP and Humsavar for FRMPD1 Gene

SNP ID Clin Chr 09 pos Variation AA Info Type
VAR_035445 A breast cancer sample p.Gly572Asp
rs1000012590 -- 37,657,287(+) A/C genic_upstream_transcript_variant, intron_variant
rs1000025185 -- 37,740,330(+) G/A coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs1000034277 -- 37,686,360(+) A/G genic_upstream_transcript_variant, intron_variant
rs1000041152 -- 37,613,746(+) A/G genic_upstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for FRMPD1 Gene

Variant ID Type Subtype PubMed ID
esv1260484 CNV insertion 17803354
esv3361901 CNV insertion 20981092
esv3380824 CNV insertion 20981092
esv3620413 CNV loss 21293372
esv3891658 CNV gain 25118596
nsv1023950 CNV loss 25217958
nsv1079005 CNV insertion 25765185
nsv1125318 OTHER inversion 24896259
nsv1145824 CNV insertion 26484159
nsv469813 CNV loss 16826518
nsv819610 CNV loss 19587683
nsv831552 CNV gain 17160897

Variation tolerance for FRMPD1 Gene

Residual Variation Intolerance Score: 95% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 12.89; 94.86% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for FRMPD1 Gene

Human Gene Mutation Database (HGMD)
FRMPD1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
FRMPD1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FRMPD1 Gene

Disorders for FRMPD1 Gene

Additional Disease Information for FRMPD1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for FRMPD1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for FRMPD1 Gene

Publications for FRMPD1 Gene

  1. Prediction of the coding sequences of unidentified human genes. XIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10231032) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 1999) 2 3 4 58
  2. Structural and biochemical characterization of the interaction between LGN and Frmpd1. (PMID: 23318951) Pan Z … Wen W (Journal of molecular biology 2013) 3 4 58
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58
  4. The PDZ and band 4.1 containing protein Frmpd1 regulates the subcellular location of activator of G-protein signaling 3 and its interaction with G-proteins. (PMID: 18566450) An N … Lanier SM (The Journal of biological chemistry 2008) 3 4 58
  5. Proteomic analyses reveal distinct chromatin-associated and soluble transcription factor complexes. (PMID: 25609649) Li X … Chen J (Molecular systems biology 2015) 3 58

Products for FRMPD1 Gene

Sources for FRMPD1 Gene

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