Display Settings:

Format

Send to:

Choose Destination

NRTN neurturin [ Homo sapiens (human) ]

Gene ID: 4902, updated on 19-Jul-2014
Official Symbol
NRTNprovided by HGNC
Official Full Name
neurturinprovided by HGNC
Primary source
HGNC:8007
See related
Ensembl:ENSG00000171119; HPRD:03604; MIM:602018; Vega:OTTHUMG00000180555
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
Neurturin is a member of the TGF-beta subfamily, TRN. This gene signals through RET 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, Jul 2008]
See NRTN in Epigenomics, MapViewer
Location:
19p13.3
Exon count:
2
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 19 NC_000019.10 (5823807..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 (S. cerevisiae) Neighboring gene fucosyltransferase 6 (alpha (1,3) fucosyltransferase) Neighboring gene uncharacterized LOC101928844 Neighboring gene fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group)

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Hirschsprung's 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
  • Axon guidance, organism-specific biosystem (from REACTOME)
    Axon guidance, organism-specific biosystemAxon guidance / axon pathfinding is the process by which neurons send out axons to reach the correct targets. Growing axons have a highly motile structure at the growing tip called the growth cone, w...
  • Developmental Biology, organism-specific biosystem (from REACTOME)
    Developmental Biology, organism-specific biosystemAs a first step towards capturing the array of processes by which a fertilized egg gives rise to the diverse tissues of the body, examples of three kinds of processes have been annotated. These are a...
  • NCAM signaling for neurite out-growth, organism-specific biosystem (from REACTOME)
    NCAM signaling for neurite out-growth, organism-specific biosystemThe neural cell adhesion molecule, NCAM, is a member of the immunoglobulin (Ig) superfamily and is involved in a variety of cellular processes of importance for the formation and maintenance of the n...
  • NCAM1 interactions, organism-specific biosystem (from REACTOME)
    NCAM1 interactions, organism-specific biosystemThe neural cell adhesion molecule, NCAM1 is generally considered as a cell adhesion mediator, but it is also considered to be a signal transducing receptor molecule. NCAM1 is involved in multiple cis...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
growth factor activity IEA
Inferred from Electronic Annotation
more info
 
receptor binding TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
MAPK cascade TAS
Traceable Author Statement
more info
PubMed 
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 IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
neurturin
Names
neurturin
prepro-neurturin

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 

    Range
    5001..9518
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_004558.3NP_004549.1  neurturin preproprotein

    See proteins identical to NP_004549.1

    Status: REVIEWED

    Source sequence(s)
    AL161995
    Consensus CDS
    CCDS12151.1
    UniProtKB/Swiss-Prot
    Q99748
    Related
    ENSP00000302648, OTTHUMP00000264612, ENST00000303212, OTTHUMT00000451882
    Conserved Domains (1) summary
    pfam00019
    Location:103196
    Blast Score: 183
    TGF_beta; Transforming growth factor beta like domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000019.10 

    Range
    5823807..5828324
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000151.1 

    Range
    5583694..5588209
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018930.2 

    Range
    5823836..5828353
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)