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  2. GFRA1 - GDNF family receptor alpha 1 Gene

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

GDNF: GDNF/GAS1 domain (29 - 109)

GDNF

GDNF: GDNF/GAS1 domain (154 - 233)

GDNF

GDNF: GDNF/GAS1 domain (243 - 337)

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  • 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

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