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  2. POU1F1 - POU class 1 homeobox 1 Gene

POU1F1 - POU class 1 homeobox 1 Gene

中文名称:POU 1 类同源框 1

种属: Homo sapiens

同用名: PIT1; CPHD1; GHF-1; Pit-1; POU1F1a

基因 ID: 5449 | 基因类型: protein coding

关于 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.

功能概要

该基因编码调节哺乳动物发育的转录因子 POU 家族的成员。该蛋白质调节与垂体发育和激素表达有关的几个基因的表达。该基因的突变导致垂体激素缺乏症。已发现该基因编码不同异构体的多个转录变体。[RefSeq 提供,2008 年 7 月]

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 基因产物(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 蛋白结构

Pou

Pou: Pou domain - N-terminal to homeobox domain (125 - 198)

Homeobox

Homeobox: Homeobox domain (215 - 271)

  • 0
  • 100
  • 200
  • 291 a.a.
蛋白主名 其他名称

pituitary-specific positive transcription factor 1

POU domain, class 1, transcription factor 1

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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