1. Gene
  2. PAEP - progestagen associated endometrial protein Gene

PAEP - progestagen associated endometrial protein Gene

中文名称:孕激素相关子宫内膜蛋白

种属: Homo sapiens

同用名: GD; GdA; GdF; GdS; PEP; PAEG; PP14; ZIF-1

基因 ID: 5047 | 基因类型: protein coding

关于 PAEP

Cytogenetic location: 9q34.3 Genomic coordinates (GRCh38): 9:135,561,756-135,566,955 (from NCBI)

This gene has 9 transcripts (splice variants), 154 orthologues and 12 paralogues. Restricted expression toward endometrium (RPKM 125.9).

功能概要

该基因是内核脂质运载蛋白超家族的成员,其成员具有相对较低的序列相似性,但具有高度保守的外显子/内含子结构和三维蛋白质折叠。大多数脂质运载蛋白聚集在 9 号染色体的长臂上。编码的糖蛋白以前被称为妊娠相关子宫内膜 α-2 球蛋白、胎盘蛋白 14 和糖蛋白,但已正式命名为孕激素相关子宫内膜蛋白。在生殖系统的羊水、卵泡液和精浆中发现了三种不同的形式,具有相同的蛋白质主链但不同的糖基化特征。这些糖蛋白在调节适合怀孕的子宫环境以及在受精过程中适当事件顺序的时间安排和发生方面具有独特而重要的作用。可变剪接导致多个转录本变体。[RefSeq 提供,2015 年 10 月]

This gene is a member of the kernel lipocalin superfamily whose members share relatively low sequence similarity but have highly conserved exon/intron structure and three-dimensional protein folding. Most lipocalins are clustered on the long arm of chromosome 9. The encoded glycoprotein has been previously referred to as pregnancy-associated endometrial alpha-2-globulin, placental protein 14, and glycodelin, but has been officially named progestagen-associated endometrial protein. Three distinct forms, with identical protein backbones but different glycosylation profiles, are found in amniotic fluid, follicular fluid and seminal plasma of the reproductive system. These glycoproteins have distinct and essential roles in regulating a uterine environment suitable for pregnancy and in the timing and occurrence of the appropriate sequence of events in the fertilization process. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015]

PAEP 基因产物(3)

mRNA Protein Name
NM_001018048.2 NP_001018058.1 glycodelin isoform 2 precursor
NM_001018049.3 NP_001018059.1 glycodelin isoform 1 precursor
NM_002571.4 NP_002562.2 glycodelin isoform 1 precursor
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
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
25416956 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in apoptotic process IDA
IDA: 通过直接分析推断
18996219 GOA
involved in negative regulation of sperm capacitation IMP
IMP: 通过突变表型推断
15883155 GOA
involved in positive regulation of granulocyte macrophage colony-stimulating factor production IDA
IDA: 通过直接分析推断
19945098 GOA
involved in regulation of binding of sperm to zona pellucida IDA
IDA: 通过直接分析推断
17192260 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in extracellular region IDA
IDA: 通过直接分析推断
3667877 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

PAEP 蛋白结构

Lipocalin

Lipocalin: Lipocalin / cytosolic fatty-acid binding protein family (34 - 174)

  • 0
  • 100
  • 180 a.a.
蛋白主名 其他名称

glycodelin

PEG

重组 PAEP 蛋白

目录号 产品名 蛋白编号 纯度
HY-P71669 PAEP Protein, Human (HEK293, Myc, His) P09466-1 (M19-F180) ≥95%
HY-P700004 PAEP Protein, Human (HEK293, His) P09466-1 (M19-F180) ≥95%

关联疾病

疾病名称 别名
Kleefstra Syndrome 1

9q Subtelomeric Deletion Syndrome

KLEFS1

Chromosome 9q34.3 Deletion Syndrome

9q- Syndrome

9q34 Deletion Syndrome

Kleefstra Syndrome Due To 9q34 Microdeletion

Kleefstra Syndrome

9q-Syndrome

9qstds

Kleefstra Syndrome Due To 9q Subtelomeric Deletion

Kleefstra Syndrome Due To Del(9)(Q34)

Kleefstra Syndrome Due To Monosomy 9q34

Chromosome 9q Subtelomeric Deletion Syndrome

Kleefstra Syndrome, Type 1

Ectopic Pregnancy

Eccyesis

Pregnancy Ectopic

Pregnancy, Ectopic

Ectopic Pregnancies

Extrauterine Gestation Or Pregnancy

Extrauterine Pregnancy

Ep - [Ectopic Pregnancy]

Ectopic Mole

Aborted Ectopic Pregnancy

Ruptured Ectopic Pregnancy

Submucous Uterine Fibroid

Submucous Leiomyoma Of Uterus

Ovarian Cyst

Ovarian Cysts

Endometriosis

Endometriosis, Site Unspecified

Endometrial Ectopia

Endometrial Cancer

Endometrial Carcinoma

Endometrial Neoplasm

Malignant Neoplasm Of Endometrium

Endometrioid Carcinoma

Endometrial Neoplasms

Carcinoma, Endometrioid

Endometrial Cancer, Familial

Endometrial Carcinoma, Somatic

Endometrial Cancer, Susceptibility To

Endometrial Ca

Malignant Endometrial Neoplasm

Neoplasm Of Endometrium

Primary Malignant Neoplasm Of Endometrium

Tumor Of Endometrium

Carcinoma Of The Endometrium

Endometrioid Carcinoma Of Female Reproductive System

ENDMC

Carcinoma Endometrioid

Endometrial Cancers

Cancer, Endometrial

Uterine Corpus Cancer

Pregnancy Loss, Recurrent 1

Pregnancy Loss, Recurrent, Susceptibility To, 1

Rpl

RPRGL1

Rprgl

Recurrent Miscarriage

Recurrent Spontaneous Abortion

Abortion, Spontaneous, Recurrent

Fetal Loss, Recurrent

Fetal Loss, Recurrent, Susceptibility To

Miscarriage, Recurrent

Embryonic Loss, Recurrent

Stillbirth, Recurrent

Pregnancy Loss, Recurrent, 1

Recurrent Embryonic Loss

Recurrent Fetal Loss

Recurrent Stillbirth

Spontaneous Recurrent Abortion

Miscarriage Recurrent

Pregnancy Loss, Recurrent, Susceptibility To, Type 1

Abortion, Habitual

Infertility
Microphthalmia, Isolated 4

Isolated Microphthalmia 4

MCOP4

Microphthalmia, Isolated, 4

Isolated Clinical Anophthalmia

Microphthalmia, Isolated, Type 4

Brachydactyly, Type A1, C

Brachydactyly Type A1c

BDA1C

Brachydactyly A1, C

Brachydactyly A1c

Brachydactyly Type A1 C

Atypical Follicular Adenoma
Multiple Synostoses Syndrome

Symphalangism-Brachydactyly Syndrome

Deafness-Hermann Type Symphalangism Syndrome

Facio-Audio-Symphalangism

Hearing Loss-Hermann Type Symphalangism Syndrome

Wl Syndrome

Multiple Synostosis Syndrome

Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1

Eec Syndrome

Rudiger Syndrome 1

Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip-Palate Syndrome 1

EEC1

Eec Syndrome 1

Eec Syndrome-1

Walker-Clodius Syndrome

Ectrodactyly-Ectodermal Dysplasia-Cleft Lip/Palate Syndrome

Eec

Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip-Palate Syndrome

Ectrodactyly-Ectodermal Dysplasia-Clefting Syndrome

Ectrodactyly-Cleft Lip/Palate Syndrome

Ectrodactyly-Ectodermal Dysplasia-Cleft Lip/Cleft Palate

Ectrodactyly-Ectodermal Dysplasia-Clefting Syndrome

Ectrodactyly, Ectodermal Dysplasia, Clefting Syndrome

Ectrodactyly-Cleft Lip-Palate Syndrome

Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome

Proximal Symphalangism

Cushing'S Symphalangism

Symphalangism, Proximal

Hereditary Absence Of Proximal Interphalangeal Joints

Strasburger-Hawkins-Eldridge Syndrome

Strasburger-Hawkins-Eldridge-Hargrave-Mckusick Syndrome

Symphalangism, Proximal, 1a

Symphalangism, Proximal, 1b

Vessel'S Syndrome

Symphalangism, Cushing Type

Ovarian Cancer

Ovarian Carcinoma

Ovarian Neoplasm

Malignant Tumour Of Ovary

Cancer Of The Ovary

Epithelial Ovarian Cancer

Neoplasm Of Ovary

Ovarian Neoplasms

Ovarian Cancers

Malignant Neoplasm Of Ovary

Primary Malignant Neoplasm Of Ovary

Ovarian Cancer, Somatic

Malignant Ovarian Tumor

Ovary Neoplasm

Primary Ovarian Cancer

Tumor Of The Ovary

Malignant Neoplasm Of The Ovary

Malignant Tumor Of The Ovary

Ovarian Malignant Tumor

OC

Ovarian Carcinomas

Cancer, Ovarian

Cancer Of Ovary

Ovary Cancer

Ca Ovary

Acromesomelic Dysplasia 2b

Fibular Hypoplasia And Complex Brachydactyly

Du Pan Syndrome

AMD2B

Dupans

Acromesomelic Dysplasia-2b

Fibular Aplasia-Complex Brachydactyly Syndrome

Brachydactyly, Type C

Brachydactyly Type C

BDC

Brachydactyly Haws Type

Brachydactyly, Haws Type

Brachydactyly C

Brachydactyly, Type A2

Brachydactyly Type A2

BDA2

Mohr-Wriedt Type Brachydactyly

Brachymesophalangy Ii

Brachymesophalangy Type 2

Brachymesophalangy 2

Brachydactyly, Mohr-Wriedt Type

Brachydactyly A2

Infiltrating Angiolipoma

Angiolipoma, Infiltrating

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 PAEP RGD RGD:2293817
Others PAEP NCBI