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NRTN neurturin [ Homo sapiens (human) ]

Gene ID: 4902, updated on 14-Mar-2020

Summary

Official Symbol
NRTNprovided by HGNC
Official Full Name
neurturinprovided by HGNC
Primary source
HGNC:HGNC:8007
See related
Ensembl:ENSG00000171119 MIM:602018
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
NTN
Summary
This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. The encoded preproprotein is proteolytically processed to generate the mature protein. This protein signals through the RET receptor tyrosine kinase and a GPI-linked coreceptor, and promotes survival of neuronal populations. A neurturin mutation has been described in a family with Hirschsprung Disease. [provided by RefSeq, Aug 2016]
Expression
Broad expression in kidney (RPKM 1.6), heart (RPKM 1.4) and 18 other tissues See more
Orthologs

Genomic context

See NRTN in Genome Data Viewer
Location:
19p13.3
Exon count:
3
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (5805387..5828324)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (5823818..5828335)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene proline rich 22 Neighboring gene dihydrouridine synthase 3 like Neighboring gene fucosyltransferase 6 Neighboring gene uncharacterized LOC101928844 Neighboring gene fucosyltransferase 3 (Lewis blood group)

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Hirschsprung disease Compare labs

NHGRI GWAS Catalog

Description
Genomics meets glycomics-the first GWAS study of human N-Glycome identifies HNF1α as a master regulator of plasma protein fucosylation.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
growth factor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
signaling receptor binding TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
MAPK cascade TAS
Traceable Author Statement
more info
 
axon guidance TAS
Traceable Author Statement
more info
 
nerve development IEA
Inferred from Electronic Annotation
more info
 
nervous system development TAS
Traceable Author Statement
more info
PubMed 
neural crest cell migration IDA
Inferred from Direct Assay
more info
PubMed 
neuron projection development IDA
Inferred from Direct Assay
more info
PubMed 
transmembrane receptor protein tyrosine kinase signaling pathway IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
axon IEA
Inferred from Electronic Annotation
more info
 
extracellular region TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
neurturin
Names
prepro-neurturin

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_008202.1 RefSeqGene

    Range
    4996..9518
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_004558.4NP_004549.1  neurturin preproprotein

    See identical proteins and their annotated locations for NP_004549.1

    Status: REVIEWED

    Source sequence(s)
    AL161995, BQ777668
    Consensus CDS
    CCDS12151.1
    UniProtKB/Swiss-Prot
    Q99748
    Related
    ENSP00000302648.1, ENST00000303212.2
    Conserved Domains (1) summary
    pfam00019
    Location:103196
    TGF_beta; Transforming growth factor beta like domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p13 Primary Assembly

    Range
    5805387..5828324
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011528041.2XP_011526343.1  neurturin isoform X1

    See identical proteins and their annotated locations for XP_011526343.1

    UniProtKB/Swiss-Prot
    Q99748
    Conserved Domains (1) summary
    pfam00019
    Location:103196
    TGF_beta; Transforming growth factor beta like domain
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