GFRA1 - GDNF family receptor alpha 1 Gene

Homo sapiens

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

Gene ID: 2674 | Gene type: protein coding

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

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 (410a.a, HEK293, His)	P56159-2 (D25-K429)	≥95%
HY-P72005	GFRA1 Protein, Human (HEK 293, His)	P56159 (D25-S429)	≥95%

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS05386	GFRA1 Human Pre-designed siRNA Set A		/	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

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