1. Gene
  2. PROP1 - PROP paired-like homeobox 1 Gene

PROP1 - PROP paired-like homeobox 1 Gene

中文名称:PROP 配对样同源框 1

种属: Homo sapiens

同用名: CPHD2; PROP-1

基因 ID: 5626 | 基因类型: protein coding

关于 PROP1

Cytogenetic location: 5q35.3 Genomic coordinates (GRCh38): 5:177,992,235-177,996,242 (from NCBI)

This gene has 1 transcript (splice variant), 1 gene allele, 109 orthologues, 50 paralogues and is associated with 5 phenotypes. Low expression observed in reference dataset.

功能概要

该基因在发育中的脑垂体中编码成对的同源结构域转录因子。表达发生在 pou 结构域转录因子 1 之前并且是其表达所必需的,它负责垂体发育和激素表达。该基因的突变与垂体激素缺乏症 2 以及黄体生成素、促卵泡激素、生长激素、催乳素和促甲状腺激素的缺乏有关。[RefSeq 提供,2011 年 9 月]

This gene encodes a paired-like homeodomain transcription factor in the developing pituitary gland. Expression occurs prior to and is required for expression of pou domain transcription factor 1, which is responsible for pituitary development and hormone expression. Mutations in this gene have been associated with combined pituitary hormone deficiency-2 as well as deficiencies in luteinizing hormone, follicle-stimulating hormone, growth hormone, Prolactin, and thyroid-stimulating hormone. [provided by RefSeq, Sep 2011]

PROP1 基因产物(1)

mRNA Protein Name
NM_006261.5 NP_006252.4 homeobox protein prophet of Pit-1
基因本体论
  • 分子功能
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
23732115 GOA
enables sequence-specific double-stranded DNA binding IDA
IDA: 通过直接分析推断
28473536 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

PROP1 蛋白结构

Homeobox

Homeobox: Homeobox domain (70 - 126)

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

homeobox protein prophet of Pit-1

pituitary-specific homeodomain factor

关联疾病

疾病名称 别名
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

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

Non-Acquired Panhypopituitarism

Genetic Panhypopituitarism

46,Xy Partial Gonadal Dysgenesis

46,Xy Pgd

46,Xy Partial Testicular Dysgenesis

Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
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

Pituitary Tumors

Pituitary Tumor

Pituitary Neoplasms

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

Hypogonadism
Pituitary Gland Disease

Pituitary Diseases

Pituitary Dysfunction

Pituitary Disease

Pituitary Deficiency

Pituitary Disorders

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

Hypogonadotropic Hypogonadism

Klinefelter Syndrome

Klinefelter'S Syndrome

Xxy Syndrome

Xxy Trisomy

Hypogonadotropism

47, Xxy

Congenital Idiopathic Hypogonadotropic Hypogonadism

Isolated Congenital Gonadotropin Deficiency

47,Xxy Syndrome

47, Xxy Syndrome

Klinefelters Syndrome

Hypogonadism

Klinefelter Syndrome In Males

Klinefelter Syndrome, Unspecified

Klinefelter Syndrome Karyotype 47, Xxy

Empty Sella Syndrome

Empty Sella Turcica

Empty Sella

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

Sheehan Syndrome

Postpartum Hypopituitarism

Sheehan'S Syndrome

Postpartum Panhypopituitarism

Postpartum Panhypopituitary Syndrome

Postpartum Pituitary Necrosis

Simmond'S Disease

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

Pituitary Hypoplasia

Hypoplasia Of The Pituitary Gland

Tungiasis

Tunga Penetrans Infestation

Chigger Flea

S Penetrans

Sarcopsylla Penetrans

T Penetrans

Tunga Penetrans

Sand-Flea Infestation

Jiggers Infestation

Chigoe Infestation

Jigger Disease

Complement Component 2 Deficiency

C2D

C2 Deficiency

Complement 2 Deficiency

Complement Component-2

Isolated Growth Hormone Deficiency, Type Ia

Ighd Ia

Primordial Dwarfism

Isolated Growth Hormone Deficiency Type Ia

Sexual Ateleiotic Dwarfism

Pituitary Dwarfism I

IGHD1A

Illig-Type Growth Hormone Deficiency

Growth Hormone Deficiency, Isolated, Type Ia

Congenital Ighd Type Ia

Congenital Isolated Gh Deficiency Type Ia

Congenital Isolated Growth Hormone Deficiency Type Ia

Pituitary Dwarfism 1

Growth Hormone Deficiency, Isolated, Autosomal Recessive

Autosomal Recessive Isolated Growth Hormone Deficiency

Isolated Growth Hormone Deficiency Type 1a

Congenital Ighd

Congenital Isolated Gh Deficiency

Congenital Isolated Growth Hormone Deficiency

Growth Hormone Deficiency, Isolated Autosomal Recessive

Illig Type Growth Hormone Deficiency

Non-Acquired Isolated Growth Hormone Deficiency

Growth Hormone Deficiency, Isolated, 1a

Growth Hormone Deficiency Isolated Autosomal Recessive

Dwarfism, Primordial

Dwarfism

Seckel Syndrome 5

SCKL5

Seckel Syndrome, Type 5

Microcephaly 1, Primary, Autosomal Recessive

MCPH1

Premature Chromosome Condensation Syndrome

Pcc Syndrome

Primary Autosomal Recessive Microcephaly 1

Microcephaly, Primary Autosomal Recessive, 1

Premature Chromosome Condensation With Microcephaly And Mental Retardation

Microcephaly Vera

True Microcephaly

Microcephaly, Type 1, Primary, Autosomal Recessive

Autosomal Recessive Primary Microcephaly

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

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, 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

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

Situs Inversus

Situs Inversus Viscerum

Laterality Sequence

Complete Transposition

Siv

Adamantinous Craniopharyngioma

Adamantinous Rathke'S Pouch Tumor

Craniopharyngioma, Adamantinomatous

Adamantinomatous Craniopharyngioma

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

Cryptorchidism, Unilateral Or Bilateral

Cryptorchidism

Undescended Testicle

Undescended Testis

Cryptorchism

Undescended Testicles

CRYPTO

Impaired Testicular Descent

Cryptosporidiosis

Retained Testis

Unilateral Cryptorchidism

Unilateral Undescended Testis

Nondescent Unilateral Testicle

Unilateral Cryptorchism

Ectopic Testis, Unilateral

Bilateral Cryptorchidism

Bilateral Cryptorchism

Bilateral Nondescent Testicle

Bilateral Undescended Testes

Bilateral Ectopic Testes

Holoprosencephaly

Holoprosencephaly Sequence

Hpe

Hpe - [Holoprosencephaly]

46,Xy Sex Reversal

Swyer Syndrome

Pure Gonadal Dysgenesis 46,Xy

Gonadal Dysgenesis, Xy Female Type

Gonadal Dysgenesis, 46,Xy

46,Xy Cgd

46,Xy Complete Gonadal Dysgenesis

46,Xy Pure Gonadal Dysgenesis

46 Xy Gonadal Dysgenesis

46, Xy Cgd

46, Xy Complete Gonadal Dysgenesis

46, Xy Pure Gonadal Dysgenesis

Xy Pure Gonadal Dysgenesis

Female With 46,Xy Karyotype

Xy Females

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
Rattus norvegicus PROP1 RGD RGD:628759
Mus musculus PROP1 MGD MGI:109330
Macaca mulatta PROP1 VGNC VGNC:110442
Canis familiaris PROP1 VGNC VGNC:45014
Bos taurus PROP1 VGNC VGNC:33366