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NSG1 neuronal vesicle trafficking associated 1 [ Homo sapiens (human) ]

Gene ID: 27065, updated on 11-Apr-2024

Summary

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Official Symbol
NSG1provided by HGNC
Official Full Name
neuronal vesicle trafficking associated 1provided by HGNC
Primary source
HGNC:HGNC:18790
See related
Ensembl:ENSG00000168824 MIM:607645; AllianceGenome:HGNC:18790
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
P21; D4S234; NEEP21; D4S234E
Summary
Predicted to enable clathrin light chain binding activity. Involved in apoptotic process. Located in endoplasmic reticulum. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in skin (RPKM 37.1), prostate (RPKM 21.2) and 12 other tissues See more
Orthologs
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Genomic context

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See NSG1 in Genome Data Viewer
Location:
4p16.3
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (4386532..4419058)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (4350456..4388523)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (4388259..4420785)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene zinc finger and BTB domain containing 49 Neighboring gene uncharacterized LOC112268462 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:4398117-4398664 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:4398665-4399213 Neighboring gene ReSE screen-validated silencer GRCh37_chr4:4407681-4407811 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:4416839-4417340 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr4:4428747-4429290 Neighboring gene syntaxin 18 Neighboring gene STX18 intronic transcript 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15214 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21228 Neighboring gene ribosomal protein S7 pseudogene 15

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. D4S234E, a novel p53-responsive gene, induces apoptosis in response to DNA damage. Kudoh T, et al. Exp Cell Res, 2010 Oct 15. PMID 20599942
  2. Variable subcellular localization of a neuron-specific protein during NTera 2 differentiation into post-mitotic human neurons. Carlock L, et al. Brain Res Mol Brain Res, 1996 Dec. PMID 9013775
  3. Complementary roles of the neuron-enriched endosomal proteins NEEP21 and calcyon in neuronal vesicle trafficking. Muthusamy N, et al. J Neurochem, 2015 Jan. PMID 25376768
  4. Identification of NEEP21, encoding neuron-enriched endosomal protein of 21 kDa, as a transcriptional target of tumor suppressor p53. Ohnishi S, et al. Int J Oncol, 2010 Nov. PMID 20878061
  5. The somatodendritic endosomal regulator NEEP21 facilitates axonal targeting of L1/NgCAM. Yap CC, et al. J Cell Biol, 2008 Feb 25. PMID 18299352, Free PMC Article

See all (20) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. This review focuses on two closely related, neuron-enriched endosomal proteins: NEEP21 and Calcyon which perform distinct roles in regulating receptor endocytosis, recycling, and degradation--{REVIEW}
    Title: Complementary roles of the neuron-enriched endosomal proteins NEEP21 and calcyon in neuronal vesicle trafficking.
  2. These results suggest that NEEP21 may play a critical role in apoptosis as a mediator of p53.
    Title: Identification of NEEP21, encoding neuron-enriched endosomal protein of 21 kDa, as a transcriptional target of tumor suppressor p53.
  3. NEEP21 profoundly affects the processing of beta-amyloid precursor proteins and Abeta peptide production.
    Title: Identification of NEEP21 as a ß-amyloid precursor protein-interacting protein in vivo that modulates amyloidogenic processing in vitro.
  4. a novel p53-responsive gene D4S234E is accumulated in the ER and induces apoptosis in response to DNA damage.
    Title: D4S234E, a novel p53-responsive gene, induces apoptosis in response to DNA damage.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables clathrin light chain binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables ionotropic glutamate receptor binding IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in amyloid precursor protein metabolic process ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in apoptotic process IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in clathrin coat assembly IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in dopamine receptor signaling pathway IEA
Inferred from Electronic Annotation
more info
  
involved_in endosomal transport IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in neurotransmitter receptor cycle ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in neurotransmitter receptor transport, endosome to postsynaptic membrane IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of receptor recycling IEA
Inferred from Electronic Annotation
more info
  
involved_in postsynaptic neurotransmitter receptor cycle ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in receptor recycling ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in regulation of long-term synaptic potentiation ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in spontaneous synaptic transmission ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in vesicle-mediated transport in synapse IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in Golgi cisterna membrane IEA
Inferred from Electronic Annotation
more info
  
located_in cytoplasm TAS
Traceable Author Statement
more info
 PubMed 
located_in dendrite ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in early endosome membrane ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in endoplasmic reticulum IDA
Inferred from Direct Assay
more info
 PubMed 
located_in endoplasmic reticulum membrane IEA
Inferred from Electronic Annotation
more info
  
is_active_in endosome IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in endosome ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in glutamatergic synapse IEA
Inferred from Electronic Annotation
more info
  
located_in late endosome ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in lateral plasma membrane IEA
Inferred from Electronic Annotation
more info
  
located_in lysosomal lumen IEA
Inferred from Electronic Annotation
more info
  
is_active_in membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in multivesicular body membrane IEA
Inferred from Electronic Annotation
more info
  
located_in nucleus TAS
Traceable Author Statement
more info
 PubMed 
located_in postsynaptic endosome IEA
Inferred from Electronic Annotation
more info
  
located_in postsynaptic membrane IEA
Inferred from Electronic Annotation
more info
  
located_in recycling endosome membrane ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in somatodendritic compartment ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in trans-Golgi network membrane ISS
Inferred from Sequence or Structural Similarity
more info
  

General protein information

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Preferred Names
neuronal vesicle trafficking-associated protein 1
Names
brain neuron cytoplasmic protein 1
carboxyterminally EE-tagged neuron-enriched endosomal 21 kDa protein
neuron specific gene family member 1
neuron-enriched endosomal protein of 21 kDa
neuron-specific protein family member 1

NCBI Reference Sequences (RefSeq)

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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.

mRNA and Protein(s)

  1. NM_001040101.2 → NP_001035190.1  neuronal vesicle trafficking-associated protein 1 isoform a

    See identical proteins and their annotated locations for NP_001035190.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 3. Variants 1, 2, and 3 all encode the same isoform (a).
    Source sequence(s)
    AC110814
    Consensus CDS
    CCDS3376.1
    UniProtKB/Swiss-Prot
    B4DXC5, P42857, Q49AQ1
    UniProtKB/TrEMBL
    B2R5R8
    Related
    ENSP00000408833.2, ENST00000433139.6
    Conserved Domains (1) summary
    pfam06387
    Location:1 → 177
    Calcyon; D1 dopamine receptor-interacting protein (calcyon)

  2. NM_001287763.2 → NP_001274692.1  neuronal vesicle trafficking-associated protein 1 isoform a

    See identical proteins and their annotated locations for NP_001274692.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) encodes isoform a. Variants 1, 2, and 3 all encode the same isoform (a).
    Source sequence(s)
    AC110814
    Consensus CDS
    CCDS3376.1
    UniProtKB/Swiss-Prot
    B4DXC5, P42857, Q49AQ1
    UniProtKB/TrEMBL
    B2R5R8
    Related
    ENSP00000381049.1, ENST00000397958.5
    Conserved Domains (1) summary
    pfam06387
    Location:1 → 177
    Calcyon; D1 dopamine receptor-interacting protein (calcyon)

  3. NM_001287764.2 → NP_001274693.1  neuronal vesicle trafficking-associated protein 1 isoform b

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) lacks an alternate exon in the 5' UTR and uses an alternate splice junction at the 5' end of an exon compared to variant 3. The resulting isoform (b) is shorter at the N-terminus compared to isoform a.
    Source sequence(s)
    AC110814
    UniProtKB/TrEMBL
    B2R5R8
    Conserved Domains (1) summary
    pfam06387
    Location:1 → 153
    Calcyon; D1 dopamine receptor-interacting protein (calcyon)

  4. NM_001382227.1 → NP_001369156.1  neuronal vesicle trafficking-associated protein 1 isoform c

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) encodes the longest isoform (c).
    Source sequence(s)
    AC110814
    Conserved Domains (1) summary
    pfam06387
    Location:53 → 186
    Calcyon; D1 dopamine receptor-interacting protein (calcyon)

  5. NM_001382228.1 → NP_001369157.1  neuronal vesicle trafficking-associated protein 1 isoform d

    Status: VALIDATED

    Source sequence(s)
    AC110814
    Consensus CDS
    CCDS93472.1
    Related
    ENSP00000425803.1, ENST00000504171.1
    Conserved Domains (1) summary
    pfam06387
    Location:1 → 138
    Calcyon; D1 dopamine receptor-interacting protein (calcyon)

  6. NM_014392.5 → NP_055207.1  neuronal vesicle trafficking-associated protein 1 isoform a

    See identical proteins and their annotated locations for NP_055207.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) differs in the 5' UTR compared to variant (3). Variants 1, 2, and 3 all encode the same isoform (a).
    Source sequence(s)
    AC110814
    Consensus CDS
    CCDS3376.1
    UniProtKB/Swiss-Prot
    B4DXC5, P42857, Q49AQ1
    UniProtKB/TrEMBL
    B2R5R8
    Related
    ENSP00000480081.1, ENST00000621129.5
    Conserved Domains (1) summary
    pfam06387
    Location:1 → 177
    Calcyon; D1 dopamine receptor-interacting protein (calcyon)

RNA

  1. NR_167932.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC110814

  2. NR_167933.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC110814

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

    Range
    4386532..4419058
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060928.1 Alternate T2T-CHM13v2.0

    Range
    4350456..4388523
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054349679.1 → XP_054205654.1  neuronal vesicle trafficking-associated protein 1 isoform X1

    UniProtKB/Swiss-Prot
    B4DXC5, P42857, Q49AQ1
    UniProtKB/TrEMBL
    B2R5R8

  2. XM_054349678.1 → XP_054205653.1  neuronal vesicle trafficking-associated protein 1 isoform X1

    UniProtKB/Swiss-Prot
    B4DXC5, P42857, Q49AQ1
    UniProtKB/TrEMBL
    B2R5R8

  3. XM_054349677.1 → XP_054205652.1  neuronal vesicle trafficking-associated protein 1 isoform X1

    UniProtKB/Swiss-Prot
    B4DXC5, P42857, Q49AQ1
    UniProtKB/TrEMBL
    B2R5R8
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P42857.1 GenPept UniProtKB/Swiss-Prot:P42857

Gene LinkOut

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