GFRA1 - GDNF family receptor alpha 1 Gene

Also Known as GDNFR; RET1L; RETL1; RHDA4; TRNR1; GDNFRA; GFRalpha-1; GFR-ALPHA-1; GDNFR-alpha-1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 2674

About 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.

Summary

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 Products (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

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	References	Source
enables glial cell-derived neurotrophic factor receptor activity	IDA IDA: Inferred from direct assay	31535977	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	23333276	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in glial cell-derived neurotrophic factor receptor signaling pathway	IDA IDA: Inferred from direct assay	31535977	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

GFRA1 Protein Structure

GDNF

0
100
200
300
400
465 a.a.

Protein Preferred Names	Protein Names
GDNF family receptor alpha-1	GDNF receptor alpha 1d

Recombinant GFRA1 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P70384	GFRA1/GDNFR-alpha-1 Protein, Human (HEK293, His)	P56159-2 (D25-K429)	≥ 95%, as determined by reducing SDS-PAGE.

GFRA1 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P811247	GFRA1 Antibody	WB, IHC-P, ICC/IF	Human, Mouse, Rat

Related Diseases

Diseases	Alias
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

Diseases	Alias
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

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS05386	GFRA1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS18390	Gfra1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS24871	Gfra1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	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