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Aliases for PHTF1 Gene

Aliases for PHTF1 Gene

  • Putative Homeodomain Transcription Factor 1 2 3 5
  • PHTF 3 4

External Ids for PHTF1 Gene

Previous HGNC Symbols for PHTF1 Gene

  • PHTF

Previous GeneCards Identifiers for PHTF1 Gene

  • GC01M114653
  • GC01M113122
  • GC01M113339
  • GC01M113538
  • GC01M113951
  • GC01M114240
  • GC01M112097

Summaries for PHTF1 Gene

GeneCards Summary for PHTF1 Gene

PHTF1 (Putative Homeodomain Transcription Factor 1) is a Protein Coding gene. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding. An important paralog of this gene is PHTF2.

UniProtKB/Swiss-Prot for PHTF1 Gene

  • May play a role in transcription regulation.

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PHTF1 Gene

Genomics for PHTF1 Gene

Regulatory Elements for PHTF1 Gene

Promoters for PHTF1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around PHTF1 on UCSC Golden Path with GeneCards custom track

Genomic Location for PHTF1 Gene

Chromosome:
1
Start:
113,696,831 bp from pter
End:
113,759,892 bp from pter
Size:
63,062 bases
Orientation:
Minus strand

Genomic View for PHTF1 Gene

Genes around PHTF1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PHTF1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PHTF1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PHTF1 Gene

Proteins for PHTF1 Gene

  • Protein details for PHTF1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UMS5-PHTF1_HUMAN
    Recommended name:
    Putative homeodomain transcription factor 1
    Protein Accession:
    Q9UMS5
    Secondary Accessions:
    • Q5VWP7
    • Q5VWP8
    • Q9BUP2
    • Q9H1X8

    Protein attributes for PHTF1 Gene

    Size:
    762 amino acids
    Molecular mass:
    87252 Da
    Quaternary structure:
    • Interacts with FEM1B.

    Alternative splice isoforms for PHTF1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PHTF1 Gene

Proteomics data for PHTF1 Gene at MOPED

Post-translational modifications for PHTF1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for PHTF1 Gene

Domains & Families for PHTF1 Gene

Protein Domains for PHTF1 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with PHTF1: view

No data available for Gene Families and UniProtKB/Swiss-Prot for PHTF1 Gene

Function for PHTF1 Gene

Molecular function for PHTF1 Gene

GENATLAS Biochemistry:
putative homeo domain transcription factor
UniProtKB/Swiss-Prot Function:
May play a role in transcription regulation.
genes like me logo Genes that share phenotypes with PHTF1: view

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PHTF1 Gene

Localization for PHTF1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PHTF1 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PHTF1 Gene COMPARTMENTS Subcellular localization image for PHTF1 gene
Compartment Confidence
nucleus 5
endoplasmic reticulum 3
plasma membrane 3
cytosol 2

Gene Ontology (GO) - Cellular Components for PHTF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005730 nucleolus IDA --
GO:0005783 endoplasmic reticulum IEA --
genes like me logo Genes that share ontologies with PHTF1: view

Pathways & Interactions for PHTF1 Gene

SuperPathways for PHTF1 Gene

No Data Available

Interacting Proteins for PHTF1 Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000358617%0d%0a9606.ENSP00000309439%0d%0a
Selected Interacting proteins: Q9UMS5-PHTF1_HUMAN ENSP00000358617 for PHTF1 Gene via I2D STRING

Gene Ontology (GO) - Biological Process for PHTF1 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for PHTF1 Gene

Drugs & Compounds for PHTF1 Gene

No Compound Related Data Available

Transcripts for PHTF1 Gene

Unigene Clusters for PHTF1 Gene

Putative homeodomain transcription factor 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for PHTF1 Gene

No ASD Table

Relevant External Links for PHTF1 Gene

GeneLoc Exon Structure for
PHTF1
ECgene alternative splicing isoforms for
PHTF1

Expression for PHTF1 Gene

mRNA expression in normal human tissues for PHTF1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PHTF1 Gene

This gene is overexpressed in Brain - Cerebellum (x4.6) and Brain - Cerebellar Hemisphere (x4.6).

Protein differential expression in normal tissues from HIPED for PHTF1 Gene

This gene is overexpressed in Serum (57.7) and Plasma (7.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for PHTF1 Gene



SOURCE GeneReport for Unigene cluster for PHTF1 Gene Hs.655824

mRNA Expression by UniProt/SwissProt for PHTF1 Gene

Q9UMS5-PHTF1_HUMAN
Tissue specificity: Widely expressed with highest levels in testis.
genes like me logo Genes that share expression patterns with PHTF1: view

Protein tissue co-expression partners for PHTF1 Gene

Primer Products

In Situ Assay Products

Orthologs for PHTF1 Gene

This gene was present in the common ancestor of animals.

Orthologs for PHTF1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PHTF1 36
  • 100 (a)
OneToOne
PHTF1 35
  • 99.83 (n)
  • 99.87 (a)
cow
(Bos Taurus)
Mammalia PHTF1 36
  • 93 (a)
OneToOne
PHTF1 35
  • 91.95 (n)
  • 93.57 (a)
dog
(Canis familiaris)
Mammalia PHTF1 35
  • 93.39 (n)
  • 95.54 (a)
PHTF1 36
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Phtf1 16
Phtf1 35
  • 90.1 (n)
  • 93.69 (a)
Phtf1 36
  • 93 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PHTF1 36
  • 83 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PHTF1 36
  • 79 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Phtf1 35
  • 90.03 (n)
  • 94.49 (a)
chicken
(Gallus gallus)
Aves PHTF1 35
  • 70.71 (n)
  • 74.7 (a)
PHTF1 36
  • 74 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PHTF1 36
  • 71 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii PHTF1 36
  • 55 (a)
OneToOne
zgc:175264 35
  • 58.94 (n)
  • 57.61 (a)
fruit fly
(Drosophila melanogaster)
Insecta phtf 37
  • 41 (a)
phtf 36
  • 28 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 58 (a)
OneToMany
Species with no ortholog for PHTF1:
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for PHTF1 Gene

ENSEMBL:
Gene Tree for PHTF1 (if available)
TreeFam:
Gene Tree for PHTF1 (if available)

Paralogs for PHTF1 Gene

Paralogs for PHTF1 Gene

(2) SIMAP similar genes for PHTF1 Gene using alignment to 6 proteins:

genes like me logo Genes that share paralogs with PHTF1: view

Variants for PHTF1 Gene

Sequence variations from dbSNP and Humsavar for PHTF1 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs1230636 -- 113,730,619(-) CCAGC(C/T)GCTTT intron-variant
rs1230637 -- 113,728,801(-) ctccc(A/G)agtag intron-variant
rs1230638 -- 113,728,506(-) cttta(C/T)atttc intron-variant
rs1230639 -- 113,728,285(-) ttgcc(C/T)gtttt intron-variant
rs1230640 -- 113,724,725(-) TTCAC(A/G)TAGTG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for PHTF1 Gene

Variant ID Type Subtype PubMed ID
esv23869 CNV Loss 19812545
nsv872161 CNV Loss 21882294
nsv831093 CNV Loss 17160897
esv2179916 CNV Deletion 18987734

Variation tolerance for PHTF1 Gene

Residual Variation Intolerance Score: 32.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.30; 41.09% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PHTF1 Gene

HapMap Linkage Disequilibrium report
PHTF1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PHTF1 Gene

Disorders for PHTF1 Gene

Relevant External Links for PHTF1

Genetic Association Database (GAD)
PHTF1
Human Genome Epidemiology (HuGE) Navigator
PHTF1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PHTF1

No disorders were found for PHTF1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for PHTF1 Gene

Publications for PHTF1 Gene

  1. PHTF, a novel atypical homeobox gene on chromosome 1p13, is evolutionarily conserved. (PMID: 10395808) Raich N. … Beaupain D. (Genomics 1999) 2 3 4 67
  2. Genetic variants associated with disordered eating. (PMID: 23568457) Wade T.D. … Martin N.G. (Int J Eat Disord 2013) 3
  3. Novel associations for hypothyroidism include known autoimmune risk loci. (PMID: 22493691) Eriksson N. … Do C.B. (PLoS ONE 2012) 3
  4. Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. (PMID: 23128233) Jostins L. … Cho J.H. (Nature 2012) 3
  5. Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. (PMID: 23251661) Comuzzie A.G. … Butte N.F. (PLoS ONE 2012) 3

Products for PHTF1 Gene

Sources for PHTF1 Gene

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