POU1F1 - POU class 1 homeobox 1 Gene

Also Known as PIT1; CPHD1; GHF-1; Pit-1; POU1F1a

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 5449

About POU1F1

Cytogenetic location: 3p11.2 Genomic coordinates (GRCh38): 3:87,259,404-87,276,584 (from NCBI)

This gene has 4 transcripts (splice variants), 199 orthologues, 17 paralogues and is associated with 5 phenotypes. Low expression observed in reference dataset.

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 combined pituitary hormone deficiency. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

POU1F1 Products (2)

mRNA	Protein	Name
NM_000306.4	NP_000297.1	pituitary-specific positive transcription factor 1 isoform alpha
NM_001122757.3	NP_001116229.1	pituitary-specific positive transcription factor 1 isoform beta

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Referencias	Source
enables DNA-binding transcription factor activity	IDA IDA: Inferred from direct assay	9482665	GOA
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IDA IDA: Inferred from direct assay	9685346	GOA
enables RNA polymerase II-specific DNA-binding transcription factor binding	IPI IPI: Inferred from physical interaction	9685346	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	32296183	GOA
enables sequence-specific double-stranded DNA binding	IDA IDA: Inferred from direct assay	28473536	GOA

Biological Process GO Annotation	Evidence	Referencias	Source
involved in positive regulation of transcription by RNA polymerase II	IDA IDA: Inferred from direct assay	9482665	GOA
involved in regulation of DNA-templated transcription	IDA IDA: Inferred from direct assay	11301317	GOA

Cellular Component GO Annotation	Evidence	Referencias	Source
located in nucleus	IDA IDA: Inferred from direct assay	26612202	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

POU1F1 Protein Structure

Pou

Homeobox

0
100
200
291 a.a.

Protein Preferred Names	Protein Names
pituitary-specific positive transcription factor 1	POU domain, class 1, transcription factor 1

POU1F1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Referencias
Intra	POU1F1	P28069	KRTAP10-8	Homo sapiens	P60410	Y2H Array	32296183
Intra	POU1F1	P28069	KRTAP10-8	Homo sapiens	P60410	Y2H Prey Pooling	32296183
Intra	POU1F1	P28069	KRTAP10-8	Homo sapiens	P60410	Validated Y2H	32296183
Intra	POU1F1	P28069	UBE2I	Homo sapiens	Q7KZS0	Y2H Prey Pooling	32296183
Intra	POU1F1	P28069	UBE2I	Homo sapiens	Q7KZS0	Validated Y2H	32296183
Intra	POU1F1	P28069	UBE2I	Homo sapiens	Q7KZS0	Y2H Array	32296183
Intra	POU1F1	P28069	KRTAP15-1	Homo sapiens	Q3LI76	Y2H Prey Pooling	32296183
Intra	POU1F1	P28069	KRTAP15-1	Homo sapiens	Q3LI76	Validated Y2H	32296183
Intra	POU1F1	P28069	KRTAP15-1	Homo sapiens	Q3LI76	Y2H Array	32296183
Intra	POU1F1	P28069	KRTAP6-1	Homo sapiens	Q3LI64	Y2H Prey Pooling	32296183
Intra	POU1F1	P28069	KRTAP6-1	Homo sapiens	Q3LI64	Validated Y2H	32296183
Intra	POU1F1	P28069	KRTAP6-1	Homo sapiens	Q3LI64	Y2H Array	32296183
Intra	POU1F1	P28069	ARSA	Homo sapiens	P15289	Y2H Prey Pooling	32296183
Intra	POU1F1	P28069	ARSA	Homo sapiens	P15289	Y2H Array	32296183
Intra	POU1F1	P28069	LHX4	Homo sapiens	Q969G2	Y2H Prey Pooling	32296183
Intra	POU1F1	P28069	LHX4	Homo sapiens	Q969G2	Validated Y2H	32296183
Intra	POU1F1	P28069	LHX4	Homo sapiens	Q969G2	Y2H Array	32296183
Intra	POU1F1	P28069	MSX2	Homo sapiens	P35548	Validated Y2H	32296183
Intra	POU1F1	P28069	MSX2	Homo sapiens	P35548	Y2H Prey Pooling	32296183
Intra	POU1F1	P28069	MSX2	Homo sapiens	P35548	Y2H Array	32296183
Intra	POU1F1	P28069	DDIT4L	Homo sapiens	Q96D03	Y2H Array	32296183
Intra	POU1F1	P28069	DDIT4L	Homo sapiens	Q96D03	Validated Y2H	32296183
Intra	POU1F1	P28069	DDIT4L	Homo sapiens	Q96D03	Y2H Prey Pooling	32296183
Intra	POU1F1	P28069	LASP1	Homo sapiens	Q14847-2	Y2H Array	32296183
Intra	POU1F1	P28069	LASP1	Homo sapiens	Q14847-2	Validated Y2H	32296183
Intra	POU1F1	P28069	LASP1	Homo sapiens	Q14847-2	Y2H Prey Pooling	32296183
Intra	POU1F1	P28069	RAD54L2	Homo sapiens	Q9Y4B4	Y2H Prey Pooling	32296183
Intra	POU1F1	P28069	RAD54L2	Homo sapiens	Q9Y4B4	Validated Y2H	32296183
Intra	POU1F1	P28069	RAD54L2	Homo sapiens	Q9Y4B4	Y2H Array	32296183
Intra	POU1F1	P28069	ARID5A	Homo sapiens	Q03989	Validated Y2H	32296183
Intra	POU1F1	P28069	ARID5A	Homo sapiens	Q03989	Y2H Array	32296183
Intra	POU1F1	P28069	ARID5A	Homo sapiens	Q03989	Y2H Prey Pooling	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Pituitary Hormone Deficiency, Combined Or Isolated, 1	Pituitary Hormone Deficiency, Combined, 1 CPHD1
Isolated Growth Hormone Deficiency, Type Ii	Ighd Ii Isolated Growth Hormone Deficiency Type Ii IGHD2 Growth Hormone Deficiency, Isolated, Type Ii Congenital Ighd Type Ii Congenital Isolated Gh Deficiency Type Ii Congenital Isolated Growth Hormone Deficiency Type Ii Pituitary Dwarfism Due To Isolated Growth Hormone Deficiency Autosomal Dominant Growth Hormone Deficiency, Isolated, Autosomal Dominant Pituitary Dwarfism Due To Isolated Growth Hormone Deficiency, Autosomal Dominant Autosomal Dominant Isolated Growth Hormone Deficiency Autosomal Dominant Pituitary Dwarfism Due To Isolated Growth Hormone Deficiency Isolated Growth Hormone Deficiency Type 2 Growth Hormone Deficiency, Isolated Autosomal Dominant Growth Hormone Deficiency, Isolated, 2 Growth Hormone Deficiency Isolated Autosomal Dominant
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Combined Pituitary Hormone Deficiencies, Genetic Forms	Congenital Hypopituitarism Pituitary Hormone Deficiency, Combined 1 Congenital Combined Pituitary Hormone Deficiency Non-Acquired Combined Pituitary Hormone Deficiency Cphd1 Familial Congenital Hypopituitarism Multiple Pituitary Hormone Deficiencies, Genetic Forms Combined Pituitary Hormone Deficiencies, Genetic Form Hormone Deficiency, Pituitary, Combined, Type 1
Pituitary Hypoplasia	Hypoplasia Of The Pituitary Gland
Pituitary Hormone Deficiency, Combined, 2	Panhypopituitarism Combined Pituitary Hormone Deficiency CPHD2 Ateliotic Dwarfism With Hypogonadism Pituitary Dwarfism Iii Hanhart Dwarfism Simmond'S Disease Simmonds' Disease Cphd Pituitary Hormone Deficiency, Combined Hormone Deficiency, Pituitary, Combined, Type 2 Pituitary Dwarfism Type 3 Sheehan Syndrome
Hypopituitarism	Pituitary Hypofunction Pituitary Insufficiency Pituitary Hormone Deficiency Subpituitarism Hypophyseal Dystrophy Hypohypophysism Anterior Pituitary Insufficiency Deficient Secretion Of One Or More Pituitary Hormones Hypopituitarism Syndrome Pituitary Deficiency Pituitary Failure Pituitary Insufficiency Nos Anterior Pituitary Hypofunction Deficient Secretion Of All Pituitary Hormones Hypopituitary Dwarfism Hyposomatotropic Dwarfism Hypophyseal Dwarfism Hypopituitary Cachexia Hypophyseal Short Stature Panhypopituitarism Syndrome Pituitary Cachexia Juvenile Hypopituitarism Pituitary Dwarfism Pituitary Gland Hypofunction Primary Hypopituitarism Secondary Hypogonadism Prepubertal Panhypopituitarism Prepubertal Dwarfism Postpartum Panhypopituitary Syndrome Postpartum Hypopituitarism Pituitary Short Stature Pituitary Infantilism Pituitary Hypogonadism Pituitary Hypoadrenocorticism
Isolated Growth Hormone Deficiency	Congenital Ighd Congenital Isolated Gh Deficiency Congenital Isolated Growth Hormone Deficiency Non-Acquired Isolated Growth Hormone Deficiency Pituitary Dwarfism Dwarfism, Pituitary Isolated Somatotropin Deficiency Isolated Congenital Growth Hormone Deficiency Familial Isolated Growth Hormone Deficiency Ighd Dwarfism, Growth Hormone Deficiency Growth Hormone Deficiency Dwarfism Isolated Gh Deficiency Isolated Hgh Deficiency Isolated Human Growth Hormone Deficiency Isolated Somatotropin Deficiency Disorder Dwarfism Pituitary
Prolactinoma	Prolactin-Producing Pituitary Gland Adenoma Prolactin-Secreting Pituitary Adenoma Forbes-Albright Syndrome Lactotroph Adenoma Prl-Secreting Pituitary Adenoma Prloma Pituitary Lactotrophic Adenoma Familial Prolactinoma Pituitary Adenoma, Prolactin-Secreting Prolactinoma Of Pituitary Gland PSPA
Hypothyroidism, Congenital, Nongoitrous, 4	Tsh Deficiency CHNG4 Thyrotropin Deficiency, Isolated Pituitary Cretinism Congenital Nongoitrous Hypothyroidism 4 Isolated Thyrotropin Deficiency Thyroid-Stimulating Hormone Deficiency Hypothyroidism, Congenital, Nongoitrous 4 Thyroid-Stimulating Hormone, Deficiency Of Isolated Thyroid-Stimulating Hormone Deficiency Isolated Tsh Deficiency Hypothyroidism, Congenital, Nongoitrous, Type 4 Secondary Hypothyroidism Tsh - [Thyroid Stimulating Hormone] Deficiency
Septooptic Dysplasia	Septo-Optic Dysplasia De Morsier Syndrome Growth Hormone Deficiency With Pituitary Anomalies SOD Pituitary Hormone Deficiency, Combined, 5 Septo-Optic Dysplasia Spectrum Septo-Optic Dysplasia With Growth Hormone Deficiency Pituitary Hormone Deficiency, Combined 5 Hypopituitarism And Septooptic 'Dysplasia' GHDPA CPHD5 Dysplasia, Septo-Optic Kallmann Syndrome
Congenital Hypothyroidism	Cretinism Neonatal Hypothyroidism Ch Cht Congenital Myxedema Myxedema, Congenital Endemic Cretinism Congenital Iodine-Deficiency Syndrome Fetal Iodine Deficiency Syndrome Congenital Iodine-Deficiency Hypothyroidism Nos
Pituitary Adenoma	Adenoma Of The Pituitary Gland Pituitary Adenomas Adenoma, Pituitary Pituitary Gland Adenoma Pituitary Neoplasms
Hypothyroidism	Thyroid Diseases Thyroid Disease Thyroid Deficiency Thyroid Insufficiency Dysfunction Thyroid Thyroid Dysfunction
Craniopharyngioma	Neoplasm Of Rathke'S Pouch Adamantinomatous Tumor Craniopharyngeal Duct Tumor Dysodontogenic Epithelial Tumor Rathke'S Pouch Tumor
Empty Sella Syndrome	Empty Sella Turcica Empty Sella
Adenoma	Acinar Cell Adenoma Adenomas Acinic Cell Adenoma
Hypothyroidism, Central, With Testicular Enlargement	X-Linked Central Congenital Hypothyroidism With Late-Onset Testicular Enlargement CHTE Hypothyroidism, Central, And Testicular Enlargement Igsf1 Deficiency Syndrome X-Linked Central Congenital Hypothyroidism With Late-Onset Macroorchidism Central Hypothyroidism And Testicular Enlargement Hypothyroidism, Central, Testicular Enlargement
Pituitary Gland Disease	Pituitary Diseases Pituitary Dysfunction Pituitary Disease Pituitary Deficiency Pituitary Disorders
Sheehan Syndrome	Postpartum Hypopituitarism Sheehan'S Syndrome Postpartum Panhypopituitarism Postpartum Panhypopituitary Syndrome Postpartum Pituitary Necrosis Simmond'S Disease
Adiposis Dolorosa	Dercum Disease Dercum'S Disease Lipomatosis Dolorosa Adiposalgia Adipose Tissue Rheumatism Anders Syndrome Dercum-Vitaut Syndrome Morbus Dercum
Acth Deficiency, Isolated	Adrenocorticotropic Hormone Deficiency IAD Congenital Isolated Acth Deficiency Isolated Acth Deficiency Isolated Adrenocorticotropic Hormone Deficiency Adrenocorticotropic Hormone Deficiency Adrenocorticotropic Hormone [Acth] Deficiency Secondary Adrenocortical Insufficiency
Situs Inversus	Situs Inversus Viscerum Laterality Sequence Complete Transposition Siv
Functioning Pituitary Adenoma	Secretory Adenoma Of The Pituitary Gland Endocrine Active Pituitary Adenoma Secreting Pituitary Adenoma Pituitary Adenoma, Functioning
Holoprosencephaly	Holoprosencephaly Sequence Hpe Hpe - [Holoprosencephaly]
Kallmann Syndrome	Hypogonadism With Anosmia Kallman'S Syndrome Anosmic Hypogonadism Anosmic Idiopathic Hypogonadotropic Hypogonadism Hypogonadotropic Hypogonadism And Anosmia Hypogonadotropic Hypogonadism-Anosmia Syndrome Olfacto-Genital Pathological Sequence Familial Hypogonadism With Anosmia Kallman Syndrome Dysplasia Olfactogenitalis Of De Morsier Kallmann'S Syndrome Congenital Hypogonadotropic Hypogonadism With Anosmia
Congenital Nervous System Abnormality	Congenital Neurologic Anomaly Congenital Nervous System Disorder

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Referencia número	Nombre del producto	Efecto	Pureza	Rare Diseases
HY-RS10895	POU1F1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	POU1F1	VGNC	VGNC:44824
Bos taurus	POU1F1	VGNC	VGNC:53599
Felis catus	POU1F1	VGNC	VGNC:68963
Rattus norvegicus	POU1F1	RGD	RGD:3367
Macaca mulatta	POU1F1	VGNC	VGNC:84063
Mus musculus	POU1F1	MGD	MGI:97588
Others	POU1F1	NCBI