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POU6F1 Gene(Protein Coding)

POU Class 6 Homeobox 1

GCID:
GC12M051186
GIFtS:
44
Genes Participants
UDN Logo

Aliases for POU6F1 Gene

Aliases for POU6F1 Gene

  • POU Class 6 Homeobox 1 2 3 5
  • Brain-Specific Homeobox/POU Domain Protein 5 3 4
  • POU Domain, Class 6, Transcription Factor 1 2 3
  • MPOU Homeobox Protein 3 4
  • Brain-5 3 4
  • TCFB1 3 4
  • BRN5 3 4
  • MPOU 3 4
  • Brn-5 4

External Ids for POU6F1 Gene

Previous GeneCards Identifiers for POU6F1 Gene

  • GC12U990075
  • GC12M051299
  • GC12M049869
  • GC12M051580
  • GC12M048613

Summaries for POU6F1 Gene

GeneCards Summary for POU6F1 Gene

POU6F1 (POU Class 6 Homeobox 1) is a Protein Coding gene. Diseases associated with POU6F1 include Clear Cell Adenocarcinoma Of The Ovary. Gene Ontology (GO) annotations related to this gene include DNA binding transcription factor activity. An important paralog of this gene is POU6F2.

UniProtKB/Swiss-Prot for POU6F1 Gene

  • Transcription factor that binds preferentially to a variant of the octamer motif (5-ATGATAAT-3).

Additional gene information for POU6F1 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 POU6F1 Gene

Genomics for POU6F1 Gene

Products:

  1. Regulatory Element

GeneHancer (GH) Regulatory Elements for POU6F1 Gene

Promoters and enhancers for POU6F1 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
GH12I051216 Promoter/Enhancer 1.5 Ensembl ENCODE 566.3 -0.4 -369 3.5 HDGF FOXA2 ARID4B SIN3A IRF4 POLR2B ZNF766 ZNF143 SP3 REST POU6F1 GC12P051217 DAZAP2
GH12I051268 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 16.2 -52.6 -52644 3.1 HDGF ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF766 GLIS2 ARID2 FOS SMAGP LOC102723983 POU6F1 BIN2 CELA1 DAZAP2 CSRNP2
GH12I052180 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 14.1 -970.8 -970757 15.1 PKNOX1 SIN3A FEZF1 ZNF2 ZBTB7B ZNF416 FOS KLF13 SP3 REST KRT80 ZNF740 KRT7 HNRNPA3P10 POU6F1 SPRYD3 CSAD ENSG00000257808 C12orf80 NR4A1
GH12I051237 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 10 -22.6 -22552 4.7 HDGF PKNOX1 CLOCK SMAD1 ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B DAZAP2 HNRNPA3P10 ATF1 TFCP2 LIMA1 LETMD1 CSRNP2 POU6F1 ATG101 LOC102723983
GH12I052196 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 11 -990.2 -990225 22.5 HDGF PKNOX1 CLOCK NEUROD1 SIN3A ZBTB7B ZNF207 ZNF143 ZNF548 FOS ZNF740 HNRNPA3P10 KRT7 KRT86 KRT87P KRT81 POU6F1 KRT83 LOC283335 KRT7-AS
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around POU6F1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the POU6F1 gene promoter:

Genomic Locations for POU6F1 Gene

Genomic Locations for POU6F1 Gene
chr12:51,186,936-51,217,708
(GRCh38/hg38)
Size:
30,773 bases
Orientation:
Minus strand
chr12:51,580,719-51,611,477
(GRCh37/hg19)

Genomic View for POU6F1 Gene

Genes around POU6F1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
POU6F1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for POU6F1 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for POU6F1 Gene

Proteins for POU6F1 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for POU6F1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q14863-PO6F1_HUMAN
    Recommended name:
    POU domain, class 6, transcription factor 1
    Protein Accession:
    Q14863
    Secondary Accessions:
    • Q15944
    • Q6DK47
    • Q7Z7P6

    Protein attributes for POU6F1 Gene

    Size:
    301 amino acids
    Molecular mass:
    32645 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for POU6F1 Gene

neXtProt entry for POU6F1 Gene

Protein Expression for POU6F1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for POU6F1 Gene

No Post-translational modifications

Other Protein References for POU6F1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for POU6F1 Gene

Domains & Families for POU6F1 Gene

Gene Families for POU6F1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for POU6F1 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for POU6F1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q14863

UniProtKB/Swiss-Prot:

PO6F1_HUMAN :
  • Belongs to the POU transcription factor family. Class-6 subfamily.
Family:
  • Belongs to the POU transcription factor family. Class-6 subfamily.
genes like me logo Genes that share domains with POU6F1: view

Function for POU6F1 Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Molecular function for POU6F1 Gene

GENATLAS Biochemistry:
POU domain,class 6,transcription factor 1,mammalian homeo box backfoot,Drosophila bicoid related,expressed in Rathke pouch,at an early stage of pituitary development and in a subset of adult anterior pituitary cells that express POMC
UniProtKB/Swiss-Prot Function:
Transcription factor that binds preferentially to a variant of the octamer motif (5-ATGATAAT-3).

Phenotypes From GWAS Catalog for POU6F1 Gene

Gene Ontology (GO) - Molecular Function for POU6F1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding IEA --
GO:0001227 transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific DNA binding IDA 8645295
GO:0003677 DNA binding IEA --
GO:0003700 DNA binding transcription factor activity TAS 7908264
GO:0043565 sequence-specific DNA binding IDA 8645295
genes like me logo Genes that share ontologies with POU6F1: view
genes like me logo Genes that share phenotypes with POU6F1: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for POU6F1 Gene

Localization for POU6F1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for POU6F1 Gene

Nucleus.

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 POU6F1 gene
Compartment Confidence
cytoskeleton 5
nucleus 5

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear bodies (3)
  • Actin filaments (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for POU6F1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0015629 actin cytoskeleton IDA --
GO:0016604 nuclear body IDA --
genes like me logo Genes that share ontologies with POU6F1: view

Pathways & Interactions for POU6F1 Gene

SuperPathways for POU6F1 Gene

PathCards logo More details on SuperPathways for POU6F1
No Data Available

Gene Ontology (GO) - Biological Process for POU6F1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II IDA 8645295
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0007420 brain development TAS 7908264
GO:0007507 heart development TAS 7908264
genes like me logo Genes that share ontologies with POU6F1: view

No data available for Pathways by source and SIGNOR curated interactions for POU6F1 Gene

Drugs & Compounds for POU6F1 Gene

Products:

  1. Drug
No Compound Related Data Available

Transcripts for POU6F1 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for POU6F1 Gene

(27) REFSEQ mRNAs :
(7) Additional mRNA sequences :
(51) Selected AceView cDNA sequences:
(12) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for POU6F1 Gene

POU class 6 homeobox 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for POU6F1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b · 6c ^ 7a · 7b ^ 8 ^ 9a · 9b ^ 10 ^ 11a · 11b
SP1: - -
SP2: -
SP3:
SP4: - -
SP5: -
SP6: - -

Relevant External Links for POU6F1 Gene

GeneLoc Exon Structure for
POU6F1
ECgene alternative splicing isoforms for
POU6F1

Expression for POU6F1 Gene

Products:

  1. Primer

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for POU6F1 Gene

mRNA expression in normal human tissues for POU6F1 Gene
mRNA expression by GTEx for POU6F1 GenemRNA expression by BioGPS for POU6F1 Gene

Protein differential expression in normal tissues from HIPED for POU6F1 Gene

This gene is overexpressed in Plasma (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for POU6F1 Gene



Protein tissue co-expression partners for POU6F1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of POU6F1 Gene:

POU6F1

SOURCE GeneReport for Unigene cluster for POU6F1 Gene:

Hs.555886

mRNA Expression by UniProt/SwissProt for POU6F1 Gene:

Q14863-PO6F1_HUMAN
Tissue specificity: In the embryo, expressed exclusively in the developing brain, whereas in the adult its expression is restricted to brain, heart, skeletal muscle and lung. In the brain, the highest expression levels are found in specific cell layers of the cortex, the olfactory bulb, the hippocampus and the cerebellum.

Evidence on tissue expression from TISSUES for POU6F1 Gene

  • Nervous system(4.7)
  • Muscle(4.1)
genes like me logo Genes that share expression patterns with POU6F1: view

Primer Products

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for POU6F1 Gene

Orthologs for POU6F1 Gene

This gene was present in the common ancestor of animals.

Orthologs for POU6F1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia POU6F1 33 34
  • 99.89 (n)
mouse
(Mus musculus)
 Mammalia POU6F1 34
  • 95 (a)
 OneToMany
Pou6f1 33 16 34
  • 87.82 (n)
cow
(Bos Taurus)
 Mammalia POU6F1 33 34
  • 93.36 (n)
dog
(Canis familiaris)
 Mammalia POU6F1 33 34
  • 92.8 (n)
rat
(Rattus norvegicus)
 Mammalia Pou6f1 33
  • 89.26 (n)
platypus
(Ornithorhynchus anatinus)
 Mammalia POU6F1 34
  • 58 (a)
 OneToOne
oppossum
(Monodelphis domestica)
 Mammalia POU6F1 34
  • 49 (a)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia POU6F1 34
  • 47 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia pou6f1 33
  • 71.6 (n)
Str.13006 33
zebrafish
(Danio rerio)
 Actinopterygii pou6f1 33 34
  • 69.54 (n)
pouc 33
fruit fly
(Drosophila melanogaster)
 Insecta CG11641 35
  • 70 (a)
Species where no ortholog for POU6F1 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)
  • 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 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 POU6F1 Gene

ENSEMBL:
Gene Tree for POU6F1 (if available)
TreeFam:
Gene Tree for POU6F1 (if available)

Paralogs for POU6F1 Gene

Variants for POU6F1 Gene

Sequence variations from dbSNP and Humsavar for POU6F1 Gene

SNP ID Clin Chr 12 pos Variation AA Info Type
rs1000053695 -- 51,197,716(-) T/C intron_variant
rs1000090226 -- 51,193,709(-) G/C intron_variant
rs1000306046 -- 51,201,444(-) A/C genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000384606 -- 51,188,761(-) C/T 3_prime_UTR_variant, non_coding_transcript_variant
rs1000425479 -- 51,216,796(-) T/A genic_upstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for POU6F1 Gene

Variant ID Type Subtype PubMed ID
esv1696566 CNV insertion 17803354
esv2239902 CNV deletion 18987734
esv2677962 CNV deletion 23128226
esv2745877 CNV deletion 23290073
esv2745878 CNV deletion 23290073
esv2745879 CNV deletion 23290073
esv2745880 CNV deletion 23290073
esv2745881 CNV deletion 23290073
esv2745882 CNV deletion 23290073
esv34039 CNV loss 18971310
esv3892200 CNV loss 25118596
nsv1069666 CNV deletion 25765185
nsv1121850 CNV deletion 24896259
nsv1122733 CNV deletion 24896259
nsv558876 CNV gain 21841781
nsv704 CNV insertion 18451855

Variation tolerance for POU6F1 Gene

Residual Variation Intolerance Score: 38.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.66; 31.84% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for POU6F1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
POU6F1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for POU6F1 Gene

Disorders for POU6F1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for POU6F1 Gene - From: GeneCards

Disorder Aliases PubMed IDs
clear cell adenocarcinoma of the ovary
  • ovarian clear cell adenocarcinoma
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for POU6F1

ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with POU6F1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for POU6F1 Gene

Publications for POU6F1 Gene

  1. A human POU domain gene, mPOU, is expressed in developing brain and specific adult tissues. (PMID: 7908264) Wey E … Schäfer BW (European journal of biochemistry 1994) 2 3 4 22 58
  2. Structure of human Brn-5 transcription factor in complex with CRH gene promoter. (PMID: 19450691) Pereira JH … Kim SH (Journal of structural biology 2009) 3 22 58
  3. Crystallization and preliminary X-ray analysis of human Brn-5 transcription factor in complex with DNA. (PMID: 18323601) Pereira JH … Kim SH (Acta crystallographica. Section F, Structural biology and crystallization communications 2008) 3 22 58
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  5. Identification of novel DNA binding sites recognized by the transcription factor mPOU (POU6F1). (PMID: 8645295) Wey E … Schäfer BW (Biochemical and biophysical research communications 1996) 3 22 58

Products for POU6F1 Gene

Sources for POU6F1 Gene

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