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

    Gene ID: 27065, updated on 10-Dec-2024

    Summary

    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, Dec 2024]
    Expression
    Biased expression in skin (RPKM 37.1), prostate (RPKM 21.2) and 12 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See NSG1 in Genome Data Viewer
    Location:
    4p16.3
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (4386532..4419058)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (4350456..4388523)
    RS_2024_09 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

    Expression

    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    General gene information

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables clathrin light chain binding  
    enables ionotropic glutamate receptor binding  
    enables protein binding PubMed 
    Process Evidence Code Pubs
    involved_in amyloid precursor protein metabolic process  
    involved_in apoptotic process PubMed 
    involved_in clathrin coat assembly  
    involved_in endosomal transport  
    involved_in neurotransmitter receptor cycle  
    involved_in neurotransmitter receptor transport, endosome to postsynaptic membrane  
    involved_in positive regulation of receptor recycling  
    involved_in postsynaptic neurotransmitter receptor cycle  
    involved_in receptor recycling  
    involved_in regulation of long-term synaptic potentiation  
    involved_in spontaneous synaptic transmission  
    involved_in vesicle-mediated transport in synapse  
    Component Evidence Code Pubs
    located_in Golgi cisterna membrane  
    located_in cytoplasm PubMed 
    located_in dendrite  
    located_in early endosome membrane  
    located_in endoplasmic reticulum PubMed 
    located_in endoplasmic reticulum membrane  
    is_active_in endosome  
    located_in endosome  
    located_in glutamatergic synapse  
    located_in late endosome  
    located_in lateral plasma membrane  
    located_in lysosomal lumen  
    is_active_in membrane  
    located_in multivesicular body membrane  
    located_in nucleus PubMed 
    located_in postsynaptic endosome  
    located_in postsynaptic membrane  
    located_in recycling endosome membrane  
    located_in somatodendritic compartment  
    located_in trans-Golgi network membrane  

    General protein information

    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)

    NEW Try the new Transcript table

    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_001040101.2NP_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:1177
      Calcyon; D1 dopamine receptor-interacting protein (calcyon)
    2. NM_001287763.2NP_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:1177
      Calcyon; D1 dopamine receptor-interacting protein (calcyon)
    3. NM_001287764.2NP_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:1153
      Calcyon; D1 dopamine receptor-interacting protein (calcyon)
    4. NM_001382227.1NP_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:53186
      Calcyon; D1 dopamine receptor-interacting protein (calcyon)
    5. NM_001382228.1NP_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:1138
      Calcyon; D1 dopamine receptor-interacting protein (calcyon)
    6. NM_014392.5NP_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:1177
      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_2024_08

    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_054349679.1XP_054205654.1  neuronal vesicle trafficking-associated protein 1 isoform X1

      UniProtKB/Swiss-Prot
      B4DXC5, P42857, Q49AQ1
      UniProtKB/TrEMBL
      B2R5R8
    2. XM_054349678.1XP_054205653.1  neuronal vesicle trafficking-associated protein 1 isoform X1

      UniProtKB/Swiss-Prot
      B4DXC5, P42857, Q49AQ1
      UniProtKB/TrEMBL
      B2R5R8
    3. XM_054349677.1XP_054205652.1  neuronal vesicle trafficking-associated protein 1 isoform X1

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