POU1F1 (POU class 1 homeobox 1)

Gene
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
5449
Gene name Gene Name - the full gene name approved by the HGNC.
POU class 1 homeobox 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
POU1F1
Synonyms (NCBI Gene) Gene synonyms aliases
CPHD1, GHF-1, PIT1, POU1F1a, Pit-1
Chromosome Chromosome number
3
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
3p11.2
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a member of the POU family of transcription factors that regulate mammalian development. The protein regulates expression of several genes involved in pituitary development and hormone expression. Mutations in this genes result in combin
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(23)
SNP ID Visualize variation Clinical significance Consequence
rs4988460 G>A Conflicting-interpretations-of-pathogenicity Coding sequence variant, synonymous variant
rs104893754 G>A Pathogenic Stop gained, coding sequence variant
rs104893755 G>A Pathogenic, uncertain-significance Missense variant, coding sequence variant
rs104893756 C>G,T Pathogenic Missense variant, coding sequence variant
rs104893757 G>A Pathogenic Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(2)
miRTarBase ID miRNA Experiments Reference
MIRT1250511 hsa-miR-4652-3p CLIP-seq
MIRT1250512 hsa-miR-653 CLIP-seq
Transcription factors
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(6)
Transcription factor Regulation Reference
HMGA1 Activation 22199144
HMGA2 Activation 22199144
LHX2 Activation 22535646
LHX4 Activation 15998782
OTX2 Unknown 18628516
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(31)
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IEA
GO:0000785 Component Chromatin IEA
GO:0000785 Component Chromatin ISA
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
173110 9210 ENSG00000064835
Protein
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID P28069
Protein name Pituitary-specific positive transcription factor 1 (PIT-1) (Growth hormone factor 1) (GHF-1)
Protein function Transcription factor involved in the specification of the lactotrope, somatotrope, and thyrotrope phenotypes in the developing anterior pituitary. Specifically binds to the consensus sequence 5'-TAAAT-3'. Activates growth hormone and prolactin g
PDB 5WC9
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00157 Pou 127 → 198 Pou domain - N-terminal to homeobox domain Domain
PF00046 Homeodomain 215 → 271 Homeodomain Domain
Sequence 
MSCQAFTSADTFIPLNSDASATLPLIMHHSAAECLPVSNHATNVMSTATGLHYSVPSCHY
GNQPSTYGVMAGSLTPCLYKFPDHTLSHGFPPIHQPLLAEDPTAADFKQELRRKSKLVEE
PIDMDSPEIRELEKFANEFKVRRIKLGYTQTNVGEALAAVHGSEFSQTTICRFENLQLSF
KNACKLKAILSKWLEEAEQVGALYNEKVGANERKRKRRTTISIAAKDALERHFGEQNKPS
SQEIMRMAEELNLEKEVVRVWFCNRRQREKRVKTSLNQSLFSISKEHLECR
Sequence length 291
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  
  Growth hormone synthesis, secretion and action  
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Pituitary Hormone Deficiency pituitary hormone deficiency, combined, 1 rs104893763, rs104893764, rs104893754, rs104893765, rs104893756, rs587776799, rs104893757, rs104893766, rs104893759, rs515726221, rs104893760, rs606231411, rs104893761, rs772390221, rs104893762
View all (4 more)		 N/A
Show/Hide Unknown Diseases (1)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Prostate cancer Prostate cancer N/A N/A GWAS
Show/Hide Text Mining Associations (61)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Abnormalities Drug Induced Associate 7670563
Achondroplasia Associate 16618986
Acromegaly Associate 26743473, 28865461, 35370935, 40421250
Adenoma Associate 18079591, 33168897, 35260162, 35370935
Adrenocorticotropic hormone deficiency Associate 17162714
Amenorrhea Associate 26743473
Atrophy Associate 16618986
Autoimmune Hypophysitis Associate 24748456, 28216655
Axenfeld Rieger syndrome Associate 17167399
Breast Neoplasms Associate 25992773, 27798557