1. Gene
  2. POU5F1 - POU class 5 homeobox 1 Gene

POU5F1 - POU class 5 homeobox 1 Gene

中文名称:POU 5 类同源框 1

种属: Homo sapiens

同用名: OCT3; OCT4; OTF3; OTF4; OTF-3; Oct-3; Oct-4; Oct3/4

基因 ID: 5460 | 基因类型: protein coding

关于 POU5F1

Cytogenetic location: 6p21.33 Genomic coordinates (GRCh38): 6:31,164,337-31,170,682 (from NCBI)

This gene has 7 transcripts (splice variants), 1 gene allele, 319 orthologues, 17 paralogues and is associated with 50 phenotypes. Broad expression in lung (RPKM 1.3), small intestine (RPKM 1.2) and 21 other tissues.

功能概要

该基因编码含有 POU 同源结构域的转录因子,该结构域在胚胎发育和干细胞多能性中起着关键作用。该基因在成人组织中的异常表达与肿瘤发生有关。该基因可以参与 21 号染色体上尤文氏肉瘤基因的易位,这也导致肿瘤形成。可变剪接,以及替代 AUG 和非 AUG 翻译起始密码子的使用,导致多种亚型。 AUG 起始密码子之一在人群中具有多态性。已在 1、3、8、10 和 12 号染色体上鉴定出相关的假基因。[RefSeq 提供,2013 年 10 月]

This gene encodes a transcription factor containing a POU homeodomain that plays a key role in embryonic development and stem cell pluripotency. Aberrant expression of this gene in adult tissues is associated with tumorigenesis. This gene can participate in a translocation with the Ewing's sarcoma gene on chromosome 21, which also leads to tumor formation. Alternative splicing, as well as usage of alternative AUG and non-AUG translation initiation codons, results in multiple isoforms. One of the AUG start codons is polymorphic in human populations. Related pseudogenes have been identified on chromosomes 1, 3, 8, 10, and 12. [provided by RefSeq, Oct 2013]

POU5F1 基因产物(5)

mRNA Protein Name
NM_001285986.2 NP_001272915.1 POU domain, class 5, transcription factor 1 isoform 4
NM_001173531.3 NP_001167002.1 POU domain, class 5, transcription factor 1 isoform 2
NM_203289.6 NP_976034.4 POU domain, class 5, transcription factor 1 isoform 2
NM_001285987.1 NP_001272916.1 POU domain, class 5, transcription factor 1 isoform 3
NM_002701.6 NP_002692.2 POU domain, class 5, transcription factor 1 isoform 1

POU5F1 蛋白结构

Pou

Pou: Pou domain - N-terminal to homeobox domain (141 - 212)

Homeobox

Homeobox: Homeobox domain (231 - 287)

  • 0
  • 100
  • 200
  • 300
  • 360 a.a.
蛋白主名 其他名称

POU domain, class 5, transcription factor 1

POU domain transcription factor OCT4

POU-type homeodomain-containing DNA-binding protein

octamer-binding protein 3

octamer-binding protein 4

octamer-binding transcription factor 3

关联疾病

疾病名称 别名
Intratubular Embryonal Carcinoma

Stage 0 Testicular Embryonal Carcinoma

Premature Menopause

Primary Ovarian Insufficiency

Premature Ovarian Failure

Hypergonadotropic Hypogonadism

Premature Ovarian Insufficiency

Menopause - Premature

Menopause Praecox

Menopause Premature

Menopause, Premature

Female Hypergonadotropic Hypogonadism

Hypergonadotrophic Ovarian Failure

Primary Female Hypogonadism

Pof - [Premature Ovarian Failure]

Ovarian Failure

Ovarian Secretion Suppression

Ovary Hyposecretion

Ovary Secretion Deficiency

Premature Menopause Nos

Tyrosinemia

Hypertyrosinemia

Tyrosinemias

Hereditary Tyrosinemia

Hypertyrosinaemia

Tyrosinaemia

Hereditary Hypertyrosinemia

Neuroblastoma

Nb

Neuroblastoma, Susceptibility To

Neuroblastomas

Central Neuroblastoma

Epilepsy, Idiopathic Generalized 17

Febrile Seizures, Familial, 2

EIG17

Familial Febrile Seizures 2

FEB2

Epilepsy, Idiopathic Generalized, Susceptibility To, 17

Familial Febrile Convulsions 2

Convulsions, Familial Febrile, 2

Spermatogenic Failure, Y-Linked, 1

SPGFY1

Sertoli Cell-Only Syndrome, Y-Linked

Y-Linked Spermatogenic Failure 1

Sertoli Cell-Only Syndrome, Type I

Type I Sertoli Cell-Only Syndrome

Y-Linked Sertoli Cell-Only Syndrome

Sarcoma

Connective And Soft Tissue Neoplasm

Tumor Of Soft Tissue And Skeleton

Sarcomas

Sarcoma - Category

Ovarian Gonadoblastoma
Eye Disease

Eye Diseases

Abnormality Of The Eye

Toxoplasma Oculopathy

Adhesions Of Uterus

Intrauterine Adhesions

Intrauterine Synechiae

Band Of Uterus

Asherman Syndrome

Internal Adhesion Of Uterus

Internal Band Of Uterus

Dysgerminoma Of Ovary

Ovarian Dysgerminoma

Malignant Dysgerminomatous Germ Cell Tumour Of Ovary

Dysgerminoma, Unspecified Site, Female

Ewing Sarcoma

Neuroepithelioma

Ewing'S Tumor

Ewings Sarcoma

Ewing'S Sarcoma

Peripheral Neuroepithelioma

Primitive Neuroectodermal Tumor

ES

Ewings Sarcoma-Primitive Neuroectodermal Tumor

Localized Peripheral Primitive Neuroectodermal Tumor

Peripheral Primitive Neuroectodermal Tumor

Ewing Tumor

Sarcoma, Ewing'S

Extraosseous Ewing Tumor

Askin Tumor

Ewing'S Family Localized Tumor

Ewing'S Sarcoma/Peripheral Primitive Neuroectodermal Tumor

Localized Ewing Sarcoma

Localized Ewing'S Sarcoma

Localized Ewing'S Sarcoma/Peripheral Primitive Neuroectodermal Tumor

Localized Ewing'S Tumor

Pnet Of Thoracopulmonary Region

Ewing Family Of Tumors

Tumor Of The Ewing Family

Skeletal Ewing Sarcoma

Osseous Ewing Sarcoma

Ppnet

Peripheral Pnet

Extraskeletal Ewing Sarcoma

Eoe

Extraosseous Ewing Sarcoma

Extraskeletal Ewing Tumor

Esft

Ewing Sarcoma Family Of Tumors

Pne

Pnet

Pnet Of The Chest Wall

Sarcoma, Ewing

Neuroectodermal Tumors, Primitive, Peripheral

Neuroectodermal Tumor, Primitive

Disorder Of Eye

Askin'S Tumor

Extraosseous Ewings Sarcoma-Primitive Neuroepithelial Tumor

Neuroepithelioma, Peripheral

Parkinson Disease 17

PARK17

Parkinson'S Disease 17

Autosomal Dominant Parkinson Disease 17

Parkinson Disease, Type 17

Severe Combined Immunodeficiency

Scid

Severe Combined Immunodeficiency Disease

Combined T And B Cell Inborn Immunodeficiency

Immunodeficiency, Severe Combined

Scid - [Severe Combined Immunodeficiencies]

Seminoma

Seminoma, Pure

Wilms Tumor 1

Nephroblastoma

Wilms Tumor

WT1

Wilms' Tumor

Bilateral Wilms Tumor

Wilms Tumor, Type 1

Wilms Tumor, Somatic

Adult Nephroblastoma

Wt1 Disorder

Renal Embryonic Tumor

Adult Kidney Wilms Tumor

Childhood Kidney Wilms Tumor

Nonanaplastic Kidney Wilms Tumor

Hepatocellular Carcinoma

Liver Cancer

Primary Liver Cancer

HCC

Hepatoma

Malignant Neoplasm Of Liver

Liver Neoplasms

Cancer, Hepatocellular

Liver Cell Carcinoma

Lcc

Hepatoblastoma, Somatic

Hepatic Cancer

Primary Malignant Neoplasm Of Liver

Rare Tumor Of Liver And Intrahepatic Biliary Tract

Hepatocellular Carcinoma, Somatic

Hepatocellular Carcinoma, Childhood Type, Somatic

Hepatocellular Cancer, Somatic

Ca Liver - Primary

Hepatic Neoplasm

Malignant Hepato-Biliary Neoplasm

Malignant Neoplasm Of Liver, Not Specified As Primary Or Secondary

Malignant Neoplasm Of Liver, Primary

Malignant Tumor Of Liver

Neoplasm Of Liver

Non-Resectable Primary Hepatic Malignant Neoplasm

Resectable Malignant Neoplasm Of Liver

Resectable Malignant Neoplasm Of The Liver

Primary Liver Carcinoma

Primary Malignant Liver Neoplasm

Primary Cancer Of Liver

Primary Tumor Of The Liver

Rare Tumor Of Liver And Ibt

Hepatocellular Cancer

Neoplasm Of The Liver

Hepatomas

Liver Neoplasm

Liver Carcinoma

Liver And Intrahepatic Biliary Tract Carcinoma

Malignant Hepatobiliary Neoplasm

Adult Primary Hepatocellular Carcinoma

Hepatoblastoma

Carcinoma Of Liver

Malignant Liver Tumour

Malignant Hepatic Tumour

Endodermal Sinus Tumor

Yolk Sac Tumor

Endodermal Sinus Tumour

Hepatoid Yolk Sac Tumour

Infantile Embryonal Carcinoma

Yolk Sac Neoplasm

Yolk Sac Tumour

Testicular Disease

Testicular Dysfunction

Testicular Diseases

Disorder Of Testis

Testis Disorder

Testicular Disorders

Colorectal Cancer

Colon Cancer

Colorectal Carcinoma

Colon Carcinoma

Colorectal Cancer, Susceptibility To

Carcinoma Of Colon

CRC

Colorectal Cancer With Chromosomal Instability, Somatic

Colon Cancer, Somatic

Colon Cancer, Susceptibility To

Colonic Neoplasms

Colorectal Neoplasms

Colorectal Cancer, Somatic

Colon Cancer, Advanced, Somatic

Colonic Carcinoma

Colorectal Carcinomas

Colon Cancers

Colorectal Cancers

Cancer, Colorectal, Somatic

Cancer, Colon

Cancer, Colorectal, Susceptibility To

Colorectal Neoplasm

Colonic Neoplasm

Malignant Tumor Of Colon

Ocular Cancer

Eye Carcinoma

Eye Neoplasm

Eye Cancer

Eye Neoplasms

Malignant Eye Neoplasm

Neoplasm Of Eye

Neoplasm Of Eye Proper

Ocular Tumor

Carcinoma Of Eye

Ocular Carcinoma

Malignant Tumor Of Eye

Parkinson Disease, Late-Onset

Parkinson Disease

Parkinson'S Disease

PD

PARK

Parkinson Disease, Susceptibility To

Late Onset Parkinson'S Disease

Late Onset Parkinson Disease

Paralysis Agitans

Primary Parkinsonism

Idiopathic Parkinson Disease

Parkinson'S

Parkinson Disease, Late-Onset, Susceptibility To

Parkinson Disease, Age Of Onset, Modifier

Lewy Body Parkinson Disease

Idiopathic Parkinson'S Disease

Pd - [Parkinson Disease]

Parkinson Disease Nos

Parkinson, Nos

Primary Parkinson Disease

Nervous System Disease

Abnormality Of The Nervous System

Nervous System Diseases

Nervous System Disorder

Glioblastoma Classical Subtype
Medulloblastoma

MDB

Cpnet

Localized Primitive Neuroectodermal Tumor

Classic Medulloblastoma

Desmoplastic/Nodular Medulloblastoma

Medulloblastoma With Extensive Nodularity

Desmoplastic Medulloblastoma

Medulloblastoma, Somatic

Medulloblastoma, Desmoplastic

Brain Medulloblastoma

Cns Pnet

Infratentorial Primitive Neuroectodermal Tumor

Mben

Medulloblastoma Desmoplastic

Neuroectodermal Tumors, Primitive

Medulloblastomas

Medulloblastoma, With Extensive Nodularity

Medulloblastoma Of Unspecified Site

Medullomyoblastoma Of Unspecified Site

Amyotrophic Lateral Sclerosis 1

Amyotrophic Lateral Sclerosis

ALS

Lou Gehrig Disease

Amyotrophic Lateral Sclerosis Type 1

Charcot Disease

ALS1

Amyotrophic Lateral Sclerosis, Susceptibility To

Fals

Lou Gehrig'S Disease

Mnd

Motor Neuron Disease

Familial Amyotrophic Lateral Sclerosis

Amyotrophic Lateral Sclerosis 1, Familial

Amyotrophic Lateral Sclerosis 1, Autosomal Dominant

Motor Neuron Disease, Bulbar

Motor Neurone Disease

Amyotrophic Lateral Sclerosis With Dementia

Dementia With Amyotrophic Lateral Sclerosis

Motor Neuron Disease, Amyotrophic Lateral Sclerosis

Sclerosis, Lateral, Amyotrophic

Sclerosis, Lateral, Amyotrophic, Type 1

Amyotrophic Sclerosis

Als - [Amyotrophic Lateral Sclerosis]

Wasting Palsy

Amyotrophic Paralysis

Amyotrophy Lateral Sclerosis

Wasting Paralysis

Spinal Progressive Amyotrophy

Progressive Atrophic Paralysis

Diencephalic Astrocytoma

Astrocytoma Of Diencephalon

Esophageal Cancer

Esophageal Carcinoma

Carcinoma Of Esophagus

Esophageal Squamous Cell Carcinoma, Somatic

Esophageal Carcinoma, Somatic

Esophagus Cancer

Gastric Cardia Adenocarcinoma

Esophageal Neoplasms

Esophageal Cancer, Somatic

Cancer Of Esophagus

Cancer Of Oesophagus

Carcinoma Of Oesophagus

Ca Lower Third Oesophagus

Ca Middle Third Oesophagus

Malignant Neoplasm Of Distal Third Of Esophagus

Malignant Neoplasm Of Lower Third Of Oesophagus

Malignant Neoplasm Of Middle Third Of Oesophagus

Malignant Neoplasm Of Proximal Third Of Esophagus

Malignant Neoplasm Of Upper Third Esophagus

Malignant Tumor Of Abdominal Esophagus

Malignant Tumor Of Distal Third Of Esophagus

Malignant Tumor Of Proximal Third Of Esophagus

Malignant Tumor Of The Middle Third Of The Esophagus

ESCR

Aerodigestive Tract Cancer

Escc

Esophageal Squamous Cell Carcinoma

Cancer, Esophageal

Malignant Neoplasm Of Esophagus

Squamous Cell Carcinoma Of Esophagus

Malignant Neoplasm Of Middle Third Of Esophagus

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

Retinitis Pigmentosa

RP

Rod-Cone Dystrophy

Autosomal Recessive Retinitis Pigmentosa

Non-Syndromic Retinitis Pigmentosa

Pericentral Pigmentary Retinopathy

Pigmentary Retinopathy

Tapetoretinal Degeneration

Rcd

Retinitis Pigmentosa Autosomal Recessive

ARRP

Retinitis Pigmentosa, Autosomal Recessive

Retinitis Pigmentosa 1

Childhood Testicular Germ Cell Tumor

Paediatric Testicular Germ Cell Neoplasm

Paediatric Testicular Germ Cell Tumour

Pediatric Testicular Germ Cell Neoplasm

Pediatric Testicular Germ Cell Tumor

Testicular Germ Cell Tumor, Pediatric

Glycogen Storage Disease

Glycogenosis

Glycogenoses

Gsd

Storage Disease, Glycogen

Gsd - [Glycogen Storage Disease]

Glycogen Thesaurismosis

Diffuse Glycogenosis

Generalised Glycogen Storage Disease

Generalised Glycogenosis

Generalised Glycogen Storage Disease Of Infants

Glycogen Synthase Deficiency

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

Germ Cell Cancer

Malignant Germ Cell Tumor

Germ Cell Neoplasm

Germ Cell Tumour

Malignant Tumor Of The Germ Cell

Neoplasms Germ Cell

Neoplasms, Germ Cell And Embryonal

Malignant Germ Cell Neoplasm

Macular Degeneration, Age-Related, 7

Age Related Macular Degeneration 7

ARMD7

Macular Degeneration, Age-Related, Neovascular Type

Susceptibility To Neovascular Type Of Age-Related Macular Degeneration

Macular Degeneration, Age-Related, Type 7

Mature Teratoma

Dermoid Cyst

Benign Teratoma

Testicular Cancer

Testis Cancer

Testicular Carcinoma

Testicular Neoplasms

Malignant Neoplasm Of Testis

Childhood Neoplasm Of The Testis

Neoplasm Of Testis

Pediatric Testicular Neoplasm

Testicular Tumor

Testis Neoplasm

Testicular Tumors

Testicular Neoplasm

Testicular Malignant Germ Cell Tumor

Childhood Testicular Neoplasm

Carcinoma Of The Testis

Cancer Of Testis

Malignant Neoplasm Of Testis, Nos

Malignant Neoplasm Of Testis, Unspecified

Malignant Tumour Of Testis

Testicle Cancer

Primary Malignant Neoplasm Of Testis

Gonadoblastoma

GBY

Turner Syndrome

Monosomy X

Gonadal Dysgenesis Turner Type

Ullrich-Turner Syndrome

Bonnevie-Ullrich Syndrome

Karyotype 45, X

Genital Dwarfism, Turner Type

Gonadal Dysgenesis

Turner'S Syndrome

Gonadal Dysgenesis - Turner

Monosomy X Syndrome

Xo Syndrome

Genital Dwarfism

45, X Syndrome

Bonnevie-Ulrich Syndrome

Chromosome X Monosomy X

Schereshevkii Turner Syndrome

Turner Varny Syndrome

45,X

Ts

45,X Syndrome

45,X/46,Xx Syndrome

Turners Syndrome

Gonadal Dysgenesis, 45,X

X0 Syndrome

Methylmalonic Aciduria And Homocystinuria, Cblx Type

Mental Retardation, X-Linked 3

Methylmalonic Acidemia With Homocystinuria, Type Cblx

MAHCX

Intellectual Developmental Disorder, X-Linked 3

Xlid3

Mrx3

Methylmalonic Acidemia And Homocysteinemia Cblx Type

Combined Defect In Adenosylcobalamin And Methylcobalamin Synthesis, Type Cblx

Methylmalonic Aciduria With Homocystinuria, Type Cblx

Methylmalonic Acidemia And Homocysteinemia, Cblx Type

Methylmalonic Aciduria And Homocysteinemia, Cblx Type

Mental Retardation, X-Linked, Type 3

Peripheral Nervous System Disease

Peripheral Neuropathy

Peripheral Nerve Disease

Peripheral Nerve Disorders

Neuropathy, Peripheral

Peripheral Neuropathy Due To Vitamin Pyridoxine Hyperalimentation

Germinoma
Testicular Germ Cell Cancer

Germ Cell Tumor Of Testis

Testicular Germ Cell Tumor

Testicular Germ Cell Neoplasm

Testicular Malignant Germ Cell Tumor

Leukemia, Acute Myeloid

Acute Myeloid Leukemia

Leukemia, Acute Myelogenous

Acute Myelogenous Leukemia

AML

Leukemia, Acute Myeloid, Susceptibility To

Acute Myeloblastic Leukemia

Leukemia, Acute Myeloid, Reduced Survival In, Somatic

Acute Myeloid Leukaemia

Leukemia, Myelocytic, Acute

Therapy Related Acute Myeloid Leukemia And Myelodysplastic Syndrome

Secondary Aml

Acute Myelocytic Leukemia

Leukemia, Myeloid, Acute

Acute Myeloid Leukemia, Somatic

Leukemia, Acute Myeloid, Somatic

Myeloid Leukemia, Acute, M4/M4eo Subtype, Somatic

Acute Myeloblastic Leukaemia

Acute Myelogenous Leukaemia

Aml - Acute Myeloid Leukemia

Acute Myeloid Leukemia With Cebpa Somatic Mutations

Aml With Cebpa Somatic Mutations

Inherited Acute Myeloid Leukemia

Familial Aml

Inherited Aml

Pure Familial Aml

Pure Familial Acute Myeloid Leukemia

Secondary Acute Myeloid Leukemia

Therapy-Related Aml And Myelodysplastic Syndrome

Acute Myeloid Leukemia, Secondary

Acute Non-Lymphoblastic Leukemia

Acute Non-Lymphocytic Leukemia

Acute Biphenotypic Leukemia

Acute Undifferentiated Leukemia

Acute Myeloblastic Leukaemia With Multilineage Dysplasia

Acute Myeloid Leukaemia With Multilineage Dysplasia Without Mention Of Remission

Acute Myeloid Leukaemia With Myelodysplasia-Related Features

Ovarian Primitive Germ Cell Tumor
Hard Palate Cancer

Malignant Neoplasm Of Hard Palate

Malignant Tumor Of Hard Palate

Malignant Tumour Of Hard Palate

Ovarian Embryonal Carcinoma

Embryonal Carcinoma Of Ovary

Embryonal Carcinoma Of The Ovary

Spermatogenic Failure

Azoospermia

Spgf

Spermatogenic Failure, Susceptibility To

Absent Sperm

Aspermatogenesis

Infertility Due To Azoospermia

Hypospermatogenesis

Azoospermatism

Germ Cell And Embryonal Cancer

Germ Cell And Embryonal Neoplasm

Teratoma

Teratomas

Brain Germinoma

Intracranial Germinoma

Germinoma Of The Brain

Ovarian Endodermal Sinus Tumor

Endodermal Sinus Tumor Of Ovary

Ovarian Yolk Sac Tumor

Endodermal Sinus Tumour Of Ovary

Ovarian Endodermal Sinus Tumour

Ovarian Yolk Sac Tumour

Spermatocytoma

Spermatocytic Seminoma

Gonadal Dysgenesis

Gonadal Dysgenesis Syndrome

Turner Syndrome

Pineoblastoma

Pineal Pnet

Pinealoma

Pineal Gland Neoplasm

Pineocytoma

Tumor Of The Pineal Region

Malignant Teratoma

Immature Teratoma

Malignant Extragonadal Teratoma

Primary Malignant Extragonadal Teratoma

Teratoma, Malignant, Nos

Teratoma, Malignant

Immature Extragonadal Teratoma

Mixed Germ Cell Cancer

Mixed Germ Cell Tumor

Mixed Germ Cell Neoplasm

Mixed Germ Cell Tumour

Mixed Teratoma And Seminoma

Ovarian Germ Cell Cancer

Ovarian Germ Cell Tumor

Malignant Germ Cell Tumor Of Ovary

Germ Cell Neoplasm Of Ovary

Germ Cell Tumor Of Ovary

Mogct

Malignant Ovarian Germ Cell Tumor

Malignant Ovarian Germ Cell Neoplasm

Embryonal Carcinoma

Embryonal Neoplasm

Embryonal Cancer

Primary Extragonadal Embryonal Carcinoma

Embryo Neoplasm

Carcinoma Embryonal

Cancer Embryonal

Carcinoma, Embryonal

Extragonadal Embryonal Carcinoma

Cancer, Embryonal

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
Mus musculus POU5F1 MGD MGI:101893
Rattus norvegicus POU5F1 RGD RGD:1359491