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NNAT neuronatin [ Homo sapiens (human) ]

Gene ID: 4826, updated on 8-May-2016
Official Symbol
NNATprovided by HGNC
Official Full Name
neuronatinprovided by HGNC
Primary source
HGNC:HGNC:7860
See related
Ensembl:ENSG00000053438 HPRD:04377; MIM:603106; Vega:OTTHUMG00000032420
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
Peg5
Summary
The protein encoded by this gene is a proteolipid that may be involved in the regulation of ion channels during brain development. The encoded protein may also play a role in forming and maintaining the structure of the nervous system. This gene is found within an intron of another gene, bladder cancer associated protein, but on the opposite strand. This gene is imprinted and is expressed only from the paternal allele. [provided by RefSeq, Apr 2016]
Orthologs
Location:
20q11.2-q12
Exon count:
3
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 20 NC_000020.11 (37521205..37523690)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (36149607..36152092)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene ribosomal protein L7a pseudogene 14 Neighboring gene uncharacterized LOC105376973 Neighboring gene bladder cancer associated protein Neighboring gene peptidylprolyl isomerase A pseudogene 3 Neighboring gene uncharacterized LOC105372608

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Copy number response

Description
Copy number response
Haploinsufficency

No evidence available (Last evaluated (2012-04-28)

ClinGen Genome Curation Page
Triplosensitivity

No evidence available (Last evaluated (2012-04-28)

ClinGen Genome Curation Page

Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp120 env Downregulation of guanine nucleotide-releasing protein, CD151/PETA-3, neuronatin, neuroendocrine differentiation factor, mitochondria 16s rRNA, and signal recognition particle is observed in HIV-1 infected and HIV-1 gp120-treated astrocytes PubMed

Go to the HIV-1, Human Interaction Database

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • MGC1439

Gene Ontology Provided by GOA

Process Evidence Code Pubs
brain development IEA
Inferred from Electronic Annotation
more info
 
neuron differentiation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of insulin secretion IBA
Inferred from Biological aspect of Ancestor
more info
 
protein lipoylation TAS
Traceable Author Statement
more info
PubMed 
transport TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
 

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_009263.1 RefSeqGene

    Range
    5001..7486
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001322802.1NP_001309731.1  neuronatin isoform gamma

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses an alternate splice site in the 5' coding region compared to variant 1, resulting in a frameshift. The encoded isoform (gamma) has a longer and distinct C-terminus compared to isoform alpha.
    Source sequence(s)
    BC001768, CN388981, HY021161
  2. NM_005386.3NP_005377.1  neuronatin isoform alpha

    See identical proteins and their annotated locations for NP_005377.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (alpha).
    Source sequence(s)
    BC001768, HY021161
    Consensus CDS
    CCDS13296.1
    UniProtKB/Swiss-Prot
    Q16517
    Related
    ENSP00000062104, OTTHUMP00000030933, ENST00000062104, OTTHUMT00000079116
  3. NM_181689.2NP_859017.1  neuronatin isoform beta

    See identical proteins and their annotated locations for NP_859017.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1, resulting in an isoform (beta) that is shorter compared to isoform alpha.
    Source sequence(s)
    AI879211, BC001768, HY021161
    Consensus CDS
    CCDS13297.1
    UniProtKB/Swiss-Prot
    Q16517
    Related
    ENSP00000335497, OTTHUMP00000030934, ENST00000346199, OTTHUMT00000079117

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p2 Primary Assembly

    Range
    37521205..37523690
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018931.2 Alternate CHM1_1.1

    Range
    36052423..36054893
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)