Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	5449
Gene name	POU class 1 homeobox 1
Gene symbol	POU1F1
Synonyms (NCBI Gene)	CPHD1GHF-1PIT1POU1F1aPit-1
Chromosome	3
Chromosome location	3p11.2
Summary	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

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
rs104893758	A>G	Pathogenic	Missense variant, coding sequence variant
rs104893759	C>A,T	Pathogenic	Missense variant, coding sequence variant
rs104893760	C>A	Pathogenic	Stop gained, coding sequence variant
rs104893761	A>C	Pathogenic	Missense variant, coding sequence variant
rs104893762	G>A	Pathogenic	Missense variant, coding sequence variant
rs104893763	T>A	Pathogenic	Stop gained, coding sequence variant
rs104893764	C>T	Pathogenic	Missense variant, coding sequence variant
rs104893765	C>T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs104893766	G>C	Pathogenic	Missense variant, coding sequence variant
rs143373007	T>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs201406891	A>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Intron variant
rs515726221	C>A	Pathogenic	Splice donor variant
rs587776798	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs587776799	->T	Pathogenic	Coding sequence variant, frameshift variant
rs754584667	G>A,C,T	Likely-pathogenic	Intron variant
rs772390221	CTTTC>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1064796954	A>C	Likely-pathogenic	Intron variant, missense variant, coding sequence variant
rs1559614730	T>G	Likely-pathogenic	Missense variant, coding sequence variant

Show/Hide all (2)

miRTarBase ID	miRNA	Experiments	Reference
MIRT1250511	hsa-miR-4652-3p	CLIP-seq
MIRT1250512	hsa-miR-653	CLIP-seq

Show/Hide all (6)

Transcription factor	Regulation	Reference
HMGA1	Activation	22199144
HMGA2	Activation	22199144
LHX2	Activation	22535646
LHX4	Activation	15998782
OTX2	Unknown	18628516
POU1F1	Activation	22199144

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
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IDA	9685346, 26612202
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IEA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA
GO:0003677	Function	DNA binding	IEA
GO:0003700	Function	DNA-binding transcription factor activity	IDA	9482665, 11301317
GO:0003700	Function	DNA-binding transcription factor activity	IEA
GO:0003700	Function	DNA-binding transcription factor activity	TAS	1487156
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005634	Component	Nucleus	IDA	26612202
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005829	Component	Cytosol	IDA
GO:0006355	Process	Regulation of DNA-templated transcription	IDA	11301317
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0008285	Process	Negative regulation of cell population proliferation	TAS	9392392
GO:0021984	Process	Adenohypophysis development	IEA
GO:0043565	Function	Sequence-specific DNA binding	IEA
GO:0045893	Process	Positive regulation of DNA-templated transcription	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	9482665, 9685346, 26612202
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0061629	Function	RNA polymerase II-specific DNA-binding transcription factor binding	IPI	9685346, 12612071, 26612202
GO:0106222	Function	LncRNA binding	IEA
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536

MIM	HGNC	e!Ensembl
173110	9210	ENSG00000064835

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

	KEGG
	Growth hormone synthesis, secretion and action

Show/Hide Causal Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Combined pituitary hormone deficiencies, genetic form	Pathogenic; Likely pathogenic	rs142046308, rs104893756, rs104893759, rs104893764, rs104893765, rs780359925	RCV003479489 RCV006268078 RCV005237378 RCV005430930 RCV003323359 RCV004701731
Pituitary hormone deficiency, combined, 1	Likely pathogenic; Pathogenic	rs2106927025, rs2106940848, rs2106940833, rs2106940851, rs2106940845, rs515726221, rs606231411, rs142046308, rs772390221, rs754584667, rs104893754, rs104893756, rs104893757, rs104893759, rs104893760 View all (10 more)	RCV001813827 RCV001706739 RCV001706740 RCV001706742 RCV001706743 RCV000114426 RCV000148937 RCV005636784 RCV000240664 RCV000240671 RCV000014572 RCV000014574 RCV000014575 RCV000014576 RCV000014577 RCV000014578 RCV000014579 RCV000014580 RCV000014581 RCV000014582 RCV000014583 RCV000014584 RCV000014585 RCV000014586 RCV002051881
POU1F1-related disorder	Likely pathogenic; Pathogenic	rs104893764, rs104893765	RCV004754260 RCV004730846

Show/Hide Unknown Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Cholangiocarcinoma	Conflicting classifications of pathogenicity	rs201406891	RCV005897735
Combined Pituitary Hormone Deficiency, Recessive	Uncertain significance; Conflicting classifications of pathogenicity	rs370744962, rs201406891, rs886058914, rs138356138, rs369739158, rs368061882, rs770960302, rs143373007, rs771316195	RCV000305428 RCV000376934 RCV000342247 RCV000341303 RCV000362421 RCV000274010 RCV000373319 RCV000286336 RCV000340521

Show/Hide Text Mining Associations (61)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
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
Calcinosis	Associate	18179800, 27001263, 27165707, 38257184
Carcinogenesis	Associate	23778486
Cardiomyopathy Dilated	Associate	21316014
Combined Pituitary Hormone Deficiency	Associate	12153609, 17162714, 23397938, 27885216, 28356564, 34270938, 35456463, 35951005, 40141050, 7670563
Congenital Abnormalities	Associate	21123951
Craniopharyngioma	Associate	21761366
Cystic Fibrosis	Associate	23690474
Dwarfism Pituitary	Associate	21123951, 21316014, 40141050, 7670563
Endocrine System Diseases	Associate	36631635
Endometrial Neoplasms	Associate	36373483
Epidermolysis bullosa with pyloric atresia	Associate	36631635
Galactorrhea	Associate	26743473
Genetic Diseases Inborn	Associate	16618986
Glaucoma	Associate	17167399
Growth Hormone Secreting Pituitary Adenoma	Stimulate	23778486
Hearing Loss	Associate	23397938
HIV Seropositivity	Associate	28216655
Hypersensitivity Delayed	Associate	26757742
Hyperthyroidism	Associate	26743473
Hypophysitis	Associate	37045779
Hypopituitarism	Associate	21316014, 35456463, 35951005
Hypothyroidism	Associate	21123951, 21316014, 26757742, 28216655, 33168897, 35456463
Immunologic Deficiency Syndromes	Associate	40141050
Infections	Associate	10196291
Inflammation	Associate	29186613
Kocher Debre Semelaigne syndrome	Associate	21316014
Language Development Disorders	Associate	23397938
Leukemia Myeloid Acute	Associate	23332017
Lymphatic Metastasis	Associate	27798557
Muscle Neoplasms	Associate	21316014
Neoplasm Metastasis	Associate	25992773, 27798557
Neoplasms	Stimulate	19726692
Neoplasms	Associate	25992773, 26743473, 27798557, 34286902, 35260162, 36631635, 37334727, 40421250
Neoplasms	Inhibit	28865461
Neuroendocrine Tumors	Associate	31883967, 34758873, 37074863
Osteoarthritis	Associate	22393163
Pericardial Effusion	Associate	21316014
Pituitary ACTH Hypersecretion	Associate	28865461
Pituitary Diseases	Associate	12153609, 21316014
Pituitary Hormone Deficiency Combined 1	Associate	40141050
Pituitary Neoplasms	Associate	10890192, 23778486, 28865461, 33261069, 35370935, 35456463, 36631635
Polyendocrinopathies Autoimmune	Associate	21123951
Prolactin Deficiency Isolated	Associate	21316014, 26757742, 35456463
Prolactinoma	Associate	33168897
Scoliosis	Associate	40141050
Stomach Neoplasms	Associate	37334727
Thinness	Associate	35951005
Thymoma	Associate	28216655
Wiedemann Grosse Dibbern syndrome	Associate	23397938
Zinc Deficiency Neonatal due to Low Breast Milk Zinc	Associate	38257184
Zinc Deficiency Neonatal due to Low Breast Milk Zinc	Stimulate	38257184

POU1F1 (POU class 1 homeobox 1)