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

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, Apr 2022]
Expression: Biased expression in skin (RPKM 37.1), prostate (RPKM 21.2) and 12 other tissues See more
Orthologs: mouse all
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Genomic context

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_000004.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH69826 (e-PCR)
- UniSTS:41730

SHGC-67907 (e-PCR)
- UniSTS:50963

SHGC-30318 (e-PCR)
- UniSTS:83487

D4S3228 (e-PCR)
- UniSTS:10532

D11S2560 (e-PCR)
- UniSTS:37928

SHGC-59558 (e-PCR)
- UniSTS:18730

D8S2279 (e-PCR)
- UniSTS:473907

WI-17747 (e-PCR)
- UniSTS:61061

SHGC-50343 (e-PCR)
- UniSTS:47286

STS-D51228 (e-PCR)
- UniSTS:64464

SHGC-30353 (e-PCR)
- UniSTS:36317

WIAF-2557 (e-PCR)
- UniSTS:35567

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)

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)
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)
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)
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)
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)
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

NR_167932.1 RNA Sequence

Status: VALIDATED

Source sequence(s)

AC110814
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

NC_000004.12 Reference GRCh38.p14 Primary Assembly

Range

4386532..4419058

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

NC_060928.1 Alternate T2T-CHM13v2.0

Range

4350456..4388523

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/Swiss-Prot

B4DXC5, P42857, Q49AQ1

UniProtKB/TrEMBL

B2R5R8
XM_054349678.1 → XP_054205653.1 neuronal vesicle trafficking-associated protein 1 isoform X1

UniProtKB/Swiss-Prot

B4DXC5, P42857, Q49AQ1

UniProtKB/TrEMBL

B2R5R8
XM_054349677.1 → XP_054205652.1 neuronal vesicle trafficking-associated protein 1 isoform X1

UniProtKB/Swiss-Prot

B4DXC5, P42857, Q49AQ1

UniProtKB/TrEMBL

B2R5R8