GFRA1 - GDNF family receptor alpha 1 Gene

中文名称：GDNF 家族受体α1

种属: Homo sapiens

同用名: GDNFR; RET1L; RETL1; RHDA4; TRNR1; GDNFRA; GFRalpha-1; GFR-ALPHA-1; GDNFR-alpha-1

基因 ID: 2674 | 基因类型: protein coding

关于 GFRA1

Cytogenetic location: 10q25.3 Genomic coordinates (GRCh38): 10:116,056,925-116,274,705 (from NCBI)

This gene has 12 transcripts (splice variants), 273 orthologues and 4 paralogues. Ubiquitous expression in fat (RPKM 5.5), brain (RPKM 4.5) and 23 other tissues.

功能概要

该基因编码神经胶质细胞系衍生的神经营养因子受体 (GDNFR) 蛋白家族的成员。编码的前原蛋白经过蛋白水解处理以产生成熟受体。神经胶质细胞源性神经营养因子 (GDNF) 和神经营养因子 (NTN) 是两种结构相关的强效神经营养因子，在控制神经元存活和分化中起着关键作用。该受体是 GDNF 和 NTN 的糖基磷脂酰肌醇 (GPI) 连接的细胞表面受体，并介导 RET 酪氨酸激酶受体的激活。该基因是先天性巨结肠的候选基因。选择性剪接会产生多种转录物变体，其中至少一种会编码经过蛋白水解处理的前原蛋白。[RefSeq 提供，2016 年 1 月]

This gene encodes a member of the glial cell line-derived neurotrophic factor receptor (GDNFR) family of proteins. The encoded preproprotein is proteolytically processed to generate the mature receptor. Glial cell line-derived neurotrophic factor (GDNF) and Neurturin (NTN) are two structurally related, potent Neurotrophic Factors that play key roles in the control of neuron survival and differentiation. This receptor is a glycosylphosphatidylinositol (GPI)-linked cell surface receptor for both GDNF and NTN, and mediates activation of the RET tyrosine kinase receptor. This gene is a candidate gene for Hirschsprung disease. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed. [provided by RefSeq, Jan 2016]

GFRA1 基因产物(12)

mRNA	Protein	Name
NM_001145453.4	NP_001138925.1	GDNF family receptor alpha-1 isoform b precursor
NM_001348096.3	NP_001335025.1	GDNF family receptor alpha-1 isoform b precursor
NM_001348098.4	NP_001335027.1	GDNF family receptor alpha-1 isoform a preproprotein
NM_001348099.3	NP_001335028.1	GDNF family receptor alpha-1 isoform c
NM_001382556.2	NP_001369485.1	GDNF family receptor alpha-1 isoform b precursor
NM_001382557.2	NP_001369486.1	GDNF family receptor alpha-1 isoform b precursor
NM_001382558.2	NP_001369487.1	GDNF family receptor alpha-1 isoform b precursor
NM_001382559.2	NP_001369488.1	GDNF family receptor alpha-1 isoform b precursor
NM_001382560.2	NP_001369489.1	GDNF family receptor alpha-1 isoform d precursor
NM_001382561.2	NP_001369490.1	GDNF family receptor alpha-1 isoform e precursor
NM_005264.8	NP_005255.1	GDNF family receptor alpha-1 isoform a preproprotein
NM_145793.7	NP_665736.1	GDNF family receptor alpha-1 isoform b precursor

基因本体论

分子功能
生物过程

分子功能 GO 注释	逻辑证据	参考文献	来源
enables glial cell-derived neurotrophic factor receptor activity	IDA IDA: 通过直接分析推断	31535977	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	23333276	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in glial cell-derived neurotrophic factor receptor signaling pathway	IDA IDA: 通过直接分析推断	31535977	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

GFRA1 蛋白结构

GDNF

0
100
200
300
400
465 a.a.

蛋白主名

其他名称

GDNF family receptor alpha-1

GDNF receptor alpha 1d

重组 GFRA1 蛋白

目录号	产品名	蛋白编号	纯度
HY-P70384	GFRA1/GDNFR-alpha-1 Protein, Human (HEK293, His)	P56159-2 (D25-K429)	≥95%

关联疾病

疾病名称

别名

Renal Hypodysplasia/Aplasia 4

RHDA4

Renal Agenesis, Bilateral

Bilateral Renal Agenesis

Hirschsprung Disease 1

Hirschsprung Disease	Aganglionic Megacolon
Hscr	Hirschsprung'S Disease
Congenital Megacolon	Congenital Intestinal Aganglionosis
Colonic Aganglionosis	Hirschsprung Disease, Susceptibility To, 1
Hirschsprung Disease, Protection Against	HSCR1
Mgc	Pelvirectal Achalasia
Total Intestinal Aganglionosis	Megacolon, Aganglionic
Macrocolon	Hscr 1
Hirschsprung Disease Type 1	Hirschsprung Disease, Type 1
Congenital Dilatation Of Colon	Aganglionosis
Congenital Aganglionic Megacolon	Aganglionosis Of Colon
Bowel Aganglionosis	Colon Aganglionosis
Hirschsprung Megacolon

Multiple Endocrine Neoplasia, Type Iia

Multiple Endocrine Neoplasia Type 2a	Sipple Syndrome
Multiple Endocrine Neoplasia Type 2	MEN2A
Men2	Ptc Syndrome
Multiple Endocrine Neoplasia, Type 2	Multiple Endocrine Neoplasia Iia
Men 2a	Pheochromocytoma And Amyloid Producing Medullary Thyroid Carcinoma
Multiple Endocrine Neoplasia, Type 2a	Pheochromocytoma And Amyloid-Producing Medullary Thyroid Carcinoma
Multiple Endocrine Neoplasia Ii	Men2 Syndrome
Men-2a Syndrome	Multiple Neoplasia 2a
Multiple Neoplasia Type 2

Thyroid Carcinoma, Familial Medullary

Medullary Thyroid Carcinoma	Familial Medullary Thyroid Carcinoma
MTC	Medullary Thyroid Cancer
Fmtc	Mtc1
Thyroid Cancer, Medullary	Thyroid Carcinoma, Medullary
Familial Mtc	Thyroid Carcinoma Medullary
Carcinoma, Thyroid, Medullary, Familial	Medullary Carcinoma Of Thyroid
Medullary Carcinoma With Amyloid Stroma, Unspecified Site	Medullary Carcinoma With Amyloid Stroma Of Thyroid

Paroxysmal Nocturnal Hemoglobinuria

Marchiafava-Micheli Disease	Pnh
Hemoglobinuria, Paroxysmal	Marchiafava-Micheli Syndrome
Paroxysmal Hemoglobinuria Nocturnal	Nocturnal Haemoglobinuria
Nocturnal Paroxysmal Haematuria	Nocturnal Paroxysmal Haemoglobinaemia

Congenital Central Hypoventilation Syndrome

Cchs	Haddad Syndrome
Ondine Curse	Ondine Syndrome
Congenital Central Hypoventilation	Congenital Central Alveolar Hypoventilation Syndrome
Congenital Failure Of Autonomic Control	Ondine'S Curse
Primary Alveolar Hypoventilation	Ondine-Hirschsprung Disease
Central Congenital Hypoventilation Syndrome	Congenital Ondine Curse
Idiopathic Congenital Central Alveolar Hypoventilation	Congenital Central Alveolar Hypoventilation-Hirschsprung Disease Syndrome
Ondine-Hirschsprung Syndrome

Multiple Endocrine Neoplasia, Type Iib

Multiple Endocrine Neoplasia Type 2b	MEN2B
Wagenmann-Froboese Syndrome	Multiple Endocrine Neoplasia Iib
Mucosal Neuroma Syndrome	Multiple Endocrine Neoplasia, Type 3
Multiple Endocrine Neoplasia, Type 2b	Men Iib
Neuromata, Mucosal, With Endocrine Tumors	Multiple Endocrine Neoplasia, Type Iii, Formerly
Men3, Formerly	Men Type Iib
Men 2b	Multiple Endocrine Neoplasia Type 3
Multiple Neoplasia 2b	Neoplasia, Endocrine, Multiple, Type Iib

Skin Lipoma

Lipoma Of Skin	Cutaneous Lipoma
Cutaneous Lipomatous Tumor	Lipoma Of Face
Cutaneous Lipomatous Neoplasm

Renal Hypodysplasia/Aplasia 1

Renal Agenesis	Renal Adysplasia
Renal Aplasia	RHDA1
Hereditary Renal Aplasia	Hra
Hereditary Urogenital Adysplasia	Hypodysplasia/Aplasia, Renal, Type 1
Congenital Absence Of Kidneys Syndrome	Congenital Absence Of Kidney
Aplastic Kidney

Megacolon

Dilatation Of Colon

Thyroid Gland Cancer

Thyroid Gland Carcinoma	Malignant Neoplasm Of Thyroid Gland
Malignant Tumour Of Thyroid Gland	Thyroid Neoplasm
Thyroid Neoplasms	Neoplasm Of Thyroid Gland
Thyroid Gland Neoplasm	Head And Neck Cancer, Thyroid
Neoplasm Of The Thyroid Gland	Cancer Of The Thyroid
Primary Malignant Neoplasm Of Thyroglossal Duct	Malignant Neoplasm Of Thyroglossal Duct
Primary Malignant Neoplasm Of Thyroid Gland	Thyroglossal Duct Cancer
Toxic Goitre Malignant Tumour	Cancerous Goitre

Renal Hypoplasia

Pancreatic Cancer

Pancreatic Carcinoma	Carcinoma Of Pancreas
Familial Pancreatic Carcinoma	Pancreatic Neoplasm
Pancreatic Carcinoma, Familial	Malignant Neoplasm Of Pancreas
Pancreatic Acinar Carcinoma	Pancreatic Tumor
Familial Pancreatic Cancer	Neoplasm Of The Pancreas
Cancer Of The Pancreas	Pancreatic Carcinoma, Somatic
Pancreatic Cancer, Somatic	Ca Body Of Pancreas
Ca Head Of Pancreas	Ca Tail Of Pancreas
Malignant Neoplasm Of Body Of Pancreas	Malignant Neoplasm Of Head Of Pancreas
Malignant Neoplasm Of Tail Of Pancreas	Pancreas Neoplasm
Exocrine Cancer	Exocrine Pancreas Carcinoma
Hereditary Pancreatic Cancer	Hereditary Pancreatic Carcinoma
PNCA	Pancreatic Cancer, Susceptibility To
Carcinoma Of Head Of Pancreas	Pancreatic Neoplasms
Pancreatic Tumors	Cancer, Pancreatic
Cancer Of Pancreas	Mixed Islet Cell With Exocrine Carcinoma Of Unspecified Site

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

Thyroid Gland Medullary Carcinoma

Medullary Thyroid Carcinoma	Medullary Carcinoma Of The Thyroid Gland
Ultimobranchial Thyroid Tumor	Ultimobranchial Thyroid Tumour
Thyroid Cancer, Medullary

Spermatocytoma

Spermatocytic Seminoma

Spermatogenic Failure

Azoospermia	Spgf
Spermatogenic Failure, Susceptibility To	Absent Sperm
Aspermatogenesis	Infertility Due To Azoospermia
Hypospermatogenesis	Azoospermatism

Mowat-Wilson Syndrome

MOWS	Microcephaly, Mental Retardation, And Distinct Facial Features, With Or Without Hirschsprung Disease
Hirschsprung Disease-Mental Retardation Syndrome	Mowat-Wilson Syndrome Due To Monosomy 2q22
Hirschsprung Disease Mental Retardation Syndrome	Microcephaly, Mental Retardation, And Distinct Facial Featrues, With Or Without Hirschprung Disease
Hirschsprung Disease - Intellectual Disability Syndrome	Hirschsprung Disease Intellectual Disability Syndrome
Intellectual Disability, Microcephaly, And Distinct Facial Features With Or Without Hirschsprung Disease	Mws
Hirschsprung Disease-Intellectual Disability Syndrome	Hirschsprung Disease And Intellectual Disability Due To 2q22 Microdeletion
Hirschsprung Disease And Intellectual Disability Due To Del(2)(Q22)	Hirschsprung Disease And Intellectual Disability Due To Monosomy 2q22
Mowat-Wilson Syndrome Due To 2q22 Microdeletion	Mowat-Wilson Syndrome Due To Del(2)Q(22)
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Hirschsprung Disease And Intellectual Disability Due To A Zeb2 Point Mutation

Cakut

Renal Or Urinary Tract Malformation	Congenital Anomalies Of Kidney And Urinary Tract
Congenital Anomaly Of Kidney And Urinary Tract	Congenital Anomalies Of The Kidney And Urinary Tract
Kidney And Urinary Tract, Anomalies, Congenital	Renal Hypodysplasia, Nonsyndromic, 1

Retinal Degeneration

Degeneration Of Retina

Vesicoureteral Reflux

Vesico-Ureteral Reflux

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

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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS05386	GFRA1 Human Pre-designed siRNA Set A	Pre-designed Set	/	否
HY-RS18390	Gfra1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	否
HY-RS24871	Gfra1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	否

直系同源

种属	基因名	来源	基因 ID
Macaca mulatta	GFRA1	VGNC	VGNC:72917
Rattus norvegicus	GFRA1	RGD	RGD:2681
Bos taurus	GFRA1	VGNC	VGNC:29332
Canis familiaris	GFRA1	VGNC	VGNC:41189
Mus musculus	GFRA1	MGD	MGI:1100842
Felis catus	GFRA1	VGNC	VGNC:62529
Others	GFRA1	NCBI

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