Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.

UniProtKB - P39905 (GDNF_HUMAN)

Entry version 205 (07 Oct 2020)
Sequence version 1 (01 Feb 1995)
Previous versions | rss
Help videoAdd a publicationFeedback
Protein

Glial cell line-derived neurotrophic factor

Gene

GDNF

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Neurotrophic factor that enhances survival and morphological differentiation of dopaminergic neurons and increases their high-affinity dopamine uptake.1 Publication

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionGrowth factor

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		P39905

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-419037, NCAM1 interactions
R-HSA-5673001, RAF/MAP kinase cascade
R-HSA-8853659, RET signaling

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...SignaLinki		P39905

SIGNOR Signaling Network Open Resource

More...SIGNORi		P39905

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Glial cell line-derived neurotrophic factor
Short name:
hGDNF
Alternative name(s):
Astrocyte-derived trophic factor
Short name:
ATF
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:GDNF
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 5

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...EuPathDBi		HostDB:ENSG00000168621.14

Human Gene Nomenclature Database

More...HGNCi		HGNC:4232, GDNF

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		600837, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_P39905

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Secreted

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Hirschsprung disease 3 (HSCR3)4 Publications
Disease susceptibility is associated with variations affecting the gene represented in this entry.
Disease descriptionA disorder of neural crest development characterized by absence of enteric ganglia along a variable length of the intestine. It is the most common cause of congenital intestinal obstruction. Early symptoms range from complete acute neonatal obstruction, characterized by vomiting, abdominal distention and failure to pass stool, to chronic constipation in the older child.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_00949421P → S in HSCR3; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs777451569EnsemblClinVar.1
Natural variantiVAR_00949593R → W in HSCR3, CCHS and PCC; unknown pathological significance. 3 PublicationsCorresponds to variant dbSNP:rs36119840EnsemblClinVar.1
Natural variantiVAR_009497154T → S in HSCR3; sporadic form. 1 PublicationCorresponds to variant dbSNP:rs104893891EnsemblClinVar.1
Natural variantiVAR_018152211I → M in HSCR3. 1 PublicationCorresponds to variant dbSNP:rs121918536EnsemblClinVar.1
Congenital central hypoventilation syndrome (CCHS)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionRare disorder characterized by abnormal control of respiration in the absence of neuromuscular or lung disease, or an identifiable brain stem lesion. A deficiency in autonomic control of respiration results in inadequate or negligible ventilatory and arousal responses to hypercapnia and hypoxemia.
Related information in OMIM
Pheochromocytoma (PCC)1 Publication
The gene represented in this entry may act as a disease modifier.
Disease descriptionA catecholamine-producing tumor of chromaffin tissue of the adrenal medulla or sympathetic paraganglia. The cardinal symptom, reflecting the increased secretion of epinephrine and norepinephrine, is hypertension, which may be persistent or intermittent.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00949593R → W in HSCR3, CCHS and PCC; unknown pathological significance. 3 PublicationsCorresponds to variant dbSNP:rs36119840EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Hirschsprung disease

Organism-specific databases

DisGeNET

More...DisGeNETi		2668

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...GeneReviewsi		GDNF

MalaCards human disease database

More...MalaCardsi		GDNF
MIMi171300, phenotype
209880, phenotype
613711, phenotype

Open Targets

More...OpenTargetsi		ENSG00000168621

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		388, Hirschsprung disease
661, Ondine syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA28644

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		P39905, Tbio

Chemistry databases

Drug and drug target database

More...DrugBanki		DB09301, Chondroitin sulfate

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		GDNF

Domain mapping of disease mutations (DMDM)

More...DMDMi		729567

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section denotes the presence of an N-terminal signal peptide.<p><a href='/help/signal' target='_top'>More...</a></p>Signal peptidei1 – 19Sequence analysisAdd BLAST19
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section describes a propeptide, which is a part of a protein that is cleaved during maturation or activation. Once cleaved, a propeptide generally has no independent biological function.<p><a href='/help/propep' target='_top'>More...</a></p>PropeptideiPRO_000003400420 – 75By similarityAdd BLAST56
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000003400578 – 211Glial cell line-derived neurotrophic factorAdd BLAST134

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the PTM / Processing":/help/ptm_processing_section section describes the positions of cysteine residues participating in disulfide bonds.<p><a href='/help/disulfid' target='_top'>More...</a></p>Disulfide bondi118 ↔ 1791 Publication
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi126N-linked (GlcNAc...) asparagine1 Publication1
Disulfide bondi145 ↔ 2081 Publication
Disulfide bondi149 ↔ 2101 Publication
Glycosylationi162N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi178Interchain

Keywords - PTMi

Cleavage on pair of basic residues, Disulfide bond, Glycoprotein

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		P39905

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		P39905

PRoteomics IDEntifications database

More...PRIDEi		P39905

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		55328 [P39905-1]
55329 [P39905-2]
55330 [P39905-3]
55331 [P39905-4]
55332 [P39905-5]

Consortium for Top Down Proteomics

More...TopDownProteomicsi		P39905-3 [P39905-3]

PTM databases

GlyGen: Computational and Informatics Resources for Glycoscience

More...GlyGeni		P39905, 2 sites

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		P39905

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		P39905

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

In the brain, predominantly expressed in the striatum with highest levels in the caudate and lowest in the putamen. Isoform 2 is absent from most tissues except for low levels in intestine and kidney. Highest expression of isoform 3 is found in pancreatic islets. Isoform 5 is expressed at very low levels in putamen, nucleus accumbens, prefrontal cortex, amygdala, hypothalamus and intestine. Isoform 3 is up-regulated in the middle temporal gyrus of Alzheimer disease patients while isoform 2 shows no change.2 Publications

<p>This subsection of the 'Expression' section reports the experimentally proven effects of inducers and repressors (usually chemical compounds or environmental factors) on the level of protein (or mRNA) expression (up-regulation, down-regulation, constitutive expression).<p><a href='/help/induction' target='_top'>More...</a></p>Inductioni

By cAMP, 12-O-tetradecanoylphorbol-13-acetate (TPA) and FGF2.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000168621, Expressed in quadriceps femoris and 107 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		P39905, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		P39905, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000168621, Tissue enhanced (brain, skeletal muscle)

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Homodimer; disulfide-linked (PubMed:8493557, PubMed:8988018, PubMed:19478429).

Interacts with RET (PubMed:21994944).

Interacts (via propeptide) with SORL1 (via N-terminal ectodomain); this interaction affects GDNF-regulated, but not constitutive secretion (PubMed:15364913, PubMed:21994944, PubMed:23333276).

Also interacts with SORL1 in complex with GFRA1; this interaction leads to GDNF endocytosis and lysosomal degradation (PubMed:23333276).

6 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Hide details

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		108936, 19 interactors

Database of interacting proteins

More...DIPi		DIP-59051N

Protein interaction database and analysis system

More...IntActi		P39905, 13 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000409007

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		P39905, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1211
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		P39905

Database of comparative protein structure models

More...ModBasei		Search...

Protein Data Bank in Europe - Knowledge Base

More...PDBe-KBi		Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...EvolutionaryTracei		P39905

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the TGF-beta family. GDNF subfamily.Curated

Keywords - Domaini

Signal

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		ENOG502QWCH, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00950000182993

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_102221_1_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		P39905

KEGG Orthology (KO)

More...KOi		K05452

Identification of Orthologs from Complete Genome Data

More...OMAi		AKRCGCV

Database of Orthologous Groups

More...OrthoDBi		1373773at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		P39905

TreeFam database of animal gene trees

More...TreeFami		TF332366

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		2.10.90.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR029034, Cystine-knot_cytokine
IPR016649, GDNF
IPR043401, GDNF_fam
IPR001839, TGF-b_C

The PANTHER Classification System

More...PANTHERi		PTHR12173, PTHR12173, 1 hit
PTHR12173:SF1, PTHR12173:SF1, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF00019, TGF_beta, 1 hit

PIRSF; a whole-protein classification database

More...PIRSFi		PIRSF016238, GDNF, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00204, TGFB, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF57501, SSF57501, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS51362, TGF_BETA_2, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (5+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 5 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 5 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All

Isoform 1 (identifier: P39905-1) [UniParc]FASTAAdd to basket
Also known as: Ex1_4L

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MKLWDVVAVC LVLLHTASAF PLPAGKRPPE APAEDRSLGR RRAPFALSSD 
        60         70         80         90        100
SNMPEDYPDQ FDDVMDFIQA TIKRLKRSPD KQMAVLPRRE RNRQAAAANP 
       110        120        130        140        150
ENSRGKGRRG QRGKNRGCVL TAIHLNVTDL GLGYETKEEL IFRYCSGSCD 
       160        170        180        190        200
AAETTYDKIL KNLSRNRRLV SDKVGQACCR PIAFDDDLSF LDDNLVYHIL 
       210 
RKHSAKRCGC I
Length:211
Mass (Da):23,720
Last modified:February 1, 1995 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iA0D1EBF77FC82691
GO
Isoform 2 (identifier: P39905-2) [UniParc]FASTAAdd to basket
Also known as: ATF-1, Ex1_4S, Ex3_4S, GDNF delta 781 Publication, HFK2-GDNF

The sequence of this isoform differs from the canonical sequence as follows:
     25-51: GKRPPEAPAEDRSLGRRRAPFALSSDS → A

Show »
Length:185
Mass (Da):20,885
Checksum:i1988C50DA5EA1B10
GO
Isoform 3 (identifier: P39905-3) [UniParc]FASTAAdd to basket
Also known as: Ex2_4L, HFK3-GDNF

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MQSLPNSNGAAAGRDFKM

Show »
Length:228
Mass (Da):25,466
Checksum:i5BAAAC69FEDDBA4C
GO
Isoform 4 (identifier: P39905-4) [UniParc]FASTAAdd to basket
Also known as: HFK4-GDNF

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MQSLPNSNGAAAGRDFKM
     25-51: GKRPPEAPAEDRSLGRRRAPFALSSDS → A

Show »
Length:202
Mass (Da):22,631
Checksum:i2CAFBC675D40CF2F
GO
Isoform 5 (identifier: P39905-5) [UniParc]FASTAAdd to basket
Also known as: Ex4S_5

The sequence of this isoform differs from the canonical sequence as follows:
     1-52: Missing.

Show »
Length:159
Mass (Da):18,123
Checksum:i97CFDCE97459E34B
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A0C4DGC2A0A0C4DGC2_HUMAN
Glial cell line-derived neurotrophi...
GDNF
61Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00949421P → S in HSCR3; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs777451569EnsemblClinVar.1
Natural variantiVAR_00949593R → W in HSCR3, CCHS and PCC; unknown pathological significance. 3 PublicationsCorresponds to variant dbSNP:rs36119840EnsemblClinVar.1
Natural variantiVAR_009496150D → N Polymorphism; risk factor for Hirschsprung disease. 1 PublicationCorresponds to variant dbSNP:rs76466003EnsemblClinVar.1
Natural variantiVAR_009497154T → S in HSCR3; sporadic form. 1 PublicationCorresponds to variant dbSNP:rs104893891EnsemblClinVar.1
Natural variantiVAR_018152211I → M in HSCR3. 1 PublicationCorresponds to variant dbSNP:rs121918536EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0422981 – 52Missing in isoform 5. CuratedAdd BLAST52
Alternative sequenceiVSP_0263681M → MQSLPNSNGAAAGRDFKM in isoform 3 and isoform 4. 1 Publication1
Alternative sequenceiVSP_00642025 – 51GKRPP…LSSDS → A in isoform 2 and isoform 4. 3 PublicationsAdd BLAST27

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
Links Updated
L19063, L19062 Genomic DNA Translation: AAA67910.1
AY052832 mRNA Translation: AAL11017.1
CR541923 mRNA Translation: CAG46721.1
AC008869 Genomic DNA No translation available.
CH471119 Genomic DNA Translation: EAW55963.1
BC069119 mRNA Translation: AAH69119.1
BC069369 mRNA Translation: AAH69369.1
BC128108 mRNA Translation: AAI28109.1
BC128109 mRNA Translation: AAI28110.1
AF053748 mRNA Translation: AAD43139.1
AJ001896 Genomic DNA Translation: CAA05074.1
AJ001897 mRNA Translation: CAA05075.1
AJ001898 mRNA Translation: CAA05076.1
AJ001899 mRNA Translation: CAA05077.1
AJ001900 mRNA Translation: CAA05078.1
AF063586 Genomic DNA Translation: AAC98782.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS3922.1 [P39905-1]
CCDS3923.1 [P39905-2]
CCDS54845.1 [P39905-3]
CCDS54846.1 [P39905-4]
CCDS75237.1 [P39905-5]

Protein sequence database of the Protein Information Resource

More...PIRi		B37499

NCBI Reference Sequences

More...RefSeqi		NP_000505.1, NM_000514.3 [P39905-1]
NP_001177397.1, NM_001190468.1 [P39905-3]
NP_001177398.1, NM_001190469.1 [P39905-4]
NP_001265027.1, NM_001278098.1 [P39905-5]
NP_954701.1, NM_199231.2 [P39905-2]
XP_011512332.1, XM_011514030.2 [P39905-5]
XP_016864826.1, XM_017009337.1 [P39905-2]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000326524; ENSP00000317145; ENSG00000168621 [P39905-1]
ENST00000344622; ENSP00000339703; ENSG00000168621 [P39905-2]
ENST00000381826; ENSP00000371248; ENSG00000168621 [P39905-4]
ENST00000427982; ENSP00000409007; ENSG00000168621 [P39905-3]
ENST00000515058; ENSP00000425928; ENSG00000168621 [P39905-2]
ENST00000620847; ENSP00000478722; ENSG00000168621 [P39905-5]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		2668

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:2668

UCSC genome browser

More...UCSCi		uc011cpd.2, human [P39905-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
L19063, L19062 Genomic DNA Translation: AAA67910.1
AY052832 mRNA Translation: AAL11017.1
CR541923 mRNA Translation: CAG46721.1
AC008869 Genomic DNA No translation available.
CH471119 Genomic DNA Translation: EAW55963.1
BC069119 mRNA Translation: AAH69119.1
BC069369 mRNA Translation: AAH69369.1
BC128108 mRNA Translation: AAI28109.1
BC128109 mRNA Translation: AAI28110.1
AF053748 mRNA Translation: AAD43139.1
AJ001896 Genomic DNA Translation: CAA05074.1
AJ001897 mRNA Translation: CAA05075.1
AJ001898 mRNA Translation: CAA05076.1
AJ001899 mRNA Translation: CAA05077.1
AJ001900 mRNA Translation: CAA05078.1
AF063586 Genomic DNA Translation: AAC98782.1
CCDSiCCDS3922.1 [P39905-1]
CCDS3923.1 [P39905-2]
CCDS54845.1 [P39905-3]
CCDS54846.1 [P39905-4]
CCDS75237.1 [P39905-5]
PIRiB37499
RefSeqiNP_000505.1, NM_000514.3 [P39905-1]
NP_001177397.1, NM_001190468.1 [P39905-3]
NP_001177398.1, NM_001190469.1 [P39905-4]
NP_001265027.1, NM_001278098.1 [P39905-5]
NP_954701.1, NM_199231.2 [P39905-2]
XP_011512332.1, XM_011514030.2 [P39905-5]
XP_016864826.1, XM_017009337.1 [P39905-2]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...PDBei

Protein Data Bank RCSB

More...RCSB PDBi

Protein Data Bank Japan

More...PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2V5EX-ray2.35B111-211[»]
3FUBX-ray2.35B/D78-211[»]
4UX8electron microscopy24.00D/F78-211[»]
6Q2Nelectron microscopy4.40A/B78-211[»]
SMRiP39905
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi108936, 19 interactors
DIPiDIP-59051N
IntActiP39905, 13 interactors
STRINGi9606.ENSP00000409007

Chemistry databases

DrugBankiDB09301, Chondroitin sulfate

PTM databases

GlyGeniP39905, 2 sites
iPTMnetiP39905
PhosphoSitePlusiP39905

Polymorphism and mutation databases

BioMutaiGDNF
DMDMi729567

Proteomic databases

jPOSTiP39905
PaxDbiP39905
PRIDEiP39905
ProteomicsDBi55328 [P39905-1]
55329 [P39905-2]
55330 [P39905-3]
55331 [P39905-4]
55332 [P39905-5]
TopDownProteomicsiP39905-3 [P39905-3]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		3924, 550 antibodies

The DNASU plasmid repository

More...DNASUi		2668

Genome annotation databases

EnsembliENST00000326524; ENSP00000317145; ENSG00000168621 [P39905-1]
ENST00000344622; ENSP00000339703; ENSG00000168621 [P39905-2]
ENST00000381826; ENSP00000371248; ENSG00000168621 [P39905-4]
ENST00000427982; ENSP00000409007; ENSG00000168621 [P39905-3]
ENST00000515058; ENSP00000425928; ENSG00000168621 [P39905-2]
ENST00000620847; ENSP00000478722; ENSG00000168621 [P39905-5]
GeneIDi2668
KEGGihsa:2668
UCSCiuc011cpd.2, human [P39905-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		2668
DisGeNETi2668
EuPathDBiHostDB:ENSG00000168621.14

GeneCards: human genes, protein and diseases

More...GeneCardsi		GDNF
GeneReviewsiGDNF
HGNCiHGNC:4232, GDNF
HPAiENSG00000168621, Tissue enhanced (brain, skeletal muscle)
MalaCardsiGDNF
MIMi171300, phenotype
209880, phenotype
600837, gene
613711, phenotype
neXtProtiNX_P39905
OpenTargetsiENSG00000168621
Orphaneti388, Hirschsprung disease
661, Ondine syndrome
PharmGKBiPA28644

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiENOG502QWCH, Eukaryota
GeneTreeiENSGT00950000182993
HOGENOMiCLU_102221_1_0_1
InParanoidiP39905
KOiK05452
OMAiAKRCGCV
OrthoDBi1373773at2759
PhylomeDBiP39905
TreeFamiTF332366

Enzyme and pathway databases

PathwayCommonsiP39905
ReactomeiR-HSA-419037, NCAM1 interactions
R-HSA-5673001, RAF/MAP kinase cascade
R-HSA-8853659, RET signaling
SignaLinkiP39905
SIGNORiP39905

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		2668, 2 hits in 867 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		GDNF, human
EvolutionaryTraceiP39905

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		Glial_cell_line-derived_neurotrophic_factor

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		2668
PharosiP39905, Tbio

Protein Ontology

More...PROi		PR:P39905
RNActiP39905, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000168621, Expressed in quadriceps femoris and 107 other tissues
ExpressionAtlasiP39905, baseline and differential
GenevisibleiP39905, HS

Family and domain databases

Gene3Di2.10.90.10, 1 hit
InterProiView protein in InterPro
IPR029034, Cystine-knot_cytokine
IPR016649, GDNF
IPR043401, GDNF_fam
IPR001839, TGF-b_C
PANTHERiPTHR12173, PTHR12173, 1 hit
PTHR12173:SF1, PTHR12173:SF1, 1 hit
PfamiView protein in Pfam
PF00019, TGF_beta, 1 hit
PIRSFiPIRSF016238, GDNF, 1 hit
SMARTiView protein in SMART
SM00204, TGFB, 1 hit
SUPFAMiSSF57501, SSF57501, 1 hit
PROSITEiView protein in PROSITE
PS51362, TGF_BETA_2, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiGDNF_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: P39905
Secondary accession number(s): B7WPK7
, O95448, O95449, O95986, Q6FH33, Q96L44, Q9UD32, Q9UD33, Q9UMV2, Q9UP67, Q9UP97
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 1, 1995
Last sequence update: February 1, 1995
Last modified: October 7, 2020
This is version 205 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Direct protein sequencing, Reference proteome

Documents

  1. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  4. SIMILARITY comments
    Index of protein domains and families
  5. Human chromosome 5
    Human chromosome 5: entries, gene names and cross-references to MIM
  6. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again