POU1F1 - POU class 1 homeobox 1 Gene

Homo sapiens

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

Gene ID: 5449 | Gene type: protein coding

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

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

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS10895	POU1F1 Human Pre-designed siRNA Set A		/	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

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