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ASNSD1 asparagine synthetase domain containing 1 [ Homo sapiens (human) ]

Gene ID: 54529, updated on 2-Nov-2024

Summary

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Official Symbol
ASNSD1provided by HGNC
Official Full Name
asparagine synthetase domain containing 1provided by HGNC
Primary source
HGNC:HGNC:24910
See related
Ensembl:ENSG00000138381 MIM:619739; AllianceGenome:HGNC:24910
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
NS3TP1; NBLA00058
Summary
Predicted to enable asparagine synthase (glutamine-hydrolyzing) activity. Predicted to be involved in asparagine biosynthetic process; glutamine metabolic process; and skeletal muscle tissue development. Predicted to act upstream of or within adipose tissue development; skeletal muscle organ development; and transdifferentiation. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Ubiquitous expression in ovary (RPKM 15.1), placenta (RPKM 13.4) and 25 other tissues See more
Orthologs
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Genomic context

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See ASNSD1 in Genome Data Viewer
Location:
2q32.2
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (189661459..189670831)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (190150718..190160077)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (190526185..190535557)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene KDM3A pseudogene 1 Neighboring gene solute carrier family 40 member 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12170 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12171 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16851 Neighboring gene uncharacterized LOC105373793 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12172 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16852 Neighboring gene ASNSD1 upstream open reading frame Neighboring gene ankyrin and armadillo repeat containing Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16853 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:190627447-190628193 Neighboring gene OSGEPL1 antisense RNA 1 Neighboring gene O-sialoglycoprotein endopeptidase like 1

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 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. Construction of eukaryotic expression plasmid containing HCV NS3 segment and protein expression in human HL-7702 hepatocytes. Li JW, et al. World J Gastroenterol, 2006 Feb 21. PMID 16534843, Free PMC Article
  2. Progressive Degenerative Myopathy and Myosteatosis in ASNSD1-Deficient Mice. Vogel P, et al. Vet Pathol, 2020 Sep. PMID 32638637
  3. RNF43 G659fs is an oncogenic colorectal cancer mutation and sensitizes tumor cells to PI3K/mTOR inhibition. Fang L, et al. Nat Commun, 2022 Jun 8. PMID 35676246, Free PMC Article
  4. Ubiquitin-Independent Disassembly by a p97 AAA-ATPase Complex Drives PP1 Holoenzyme Formation. Weith M, et al. Mol Cell, 2018 Nov 15. PMID 30344098
  5. SNX27-driven membrane localisation of OTULIN antagonises linear ubiquitination and NF-κB signalling activation. Shi R, et al. Cell Biosci, 2021 Jul 27. PMID 34315543, Free PMC Article

See all (19) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Normal human HL-7702 hepatocytes can efficiently express specific HCV NS3 protein in vitro.
    Title: Construction of eukaryotic expression plasmid containing HCV NS3 segment and protein expression in human HL-7702 hepatocytes.
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

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ20752

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables asparagine synthase (glutamine-hydrolyzing) activity IEA
Inferred from Electronic Annotation
more info
  
enables molecular_function ND
No biological Data available
more info
  
Process Evidence Code Pubs
involved_in adipose tissue development IEA
Inferred from Electronic Annotation
more info
  
involved_in asparagine biosynthetic process IEA
Inferred from Electronic Annotation
more info
  
involved_in biological_process ND
No biological Data available
more info
  
involved_in glutamine metabolic process IEA
Inferred from Electronic Annotation
more info
  
involved_in skeletal muscle tissue development IEA
Inferred from Electronic Annotation
more info
  
involved_in transdifferentiation IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
is_active_in cellular_component ND
No biological Data available
more info
  

General protein information

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Preferred Names
asparagine synthetase domain-containing protein 1
Names
HCV NS3-transactivated protein 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_001353497.2 → NP_001340426.1  asparagine synthetase domain-containing protein 1

    Status: VALIDATED

    Source sequence(s)
    AC012488
    Consensus CDS
    CCDS2300.1
    UniProtKB/Swiss-Prot
    D3DPH6, Q3LIC3, Q4ZG45, Q9NWL6
    UniProtKB/TrEMBL
    C9IYZ1
    Related
    ENSP00000406790.1, ENST00000420250.1
    Conserved Domains (2) summary
    cd01991
    Location:322 → 607
    Asn_Synthase_B_C; The C-terminal domain of Asparagine Synthase B. This domain is always found associated n-terminal amidotransferase domain. Family members that contain this domain catalyse the conversion of aspartate to asparagine. Asparagine synthetase B catalyzes the ...
    cd03766
    Location:1 → 179
    Gn_AT_II_novel; Gn_AT_II_novel. This asparagine synthase-related domain is present in eukaryotes but its function has not yet been determined. The glutaminase domain catalyzes an amide nitrogen transfer from glutamine to the appropriate substrate. In this process, ...

  2. NM_019048.4 → NP_061921.2  asparagine synthetase domain-containing protein 1

    Status: VALIDATED

    Source sequence(s)
    AC012488, AK000759, BC001243
    Consensus CDS
    CCDS2300.1
    UniProtKB/Swiss-Prot
    D3DPH6, Q3LIC3, Q4ZG45, Q9NWL6
    UniProtKB/TrEMBL
    C9IYZ1
    Related
    ENSP00000260952.4, ENST00000260952.9
    Conserved Domains (2) summary
    cd01991
    Location:322 → 607
    Asn_Synthase_B_C; The C-terminal domain of Asparagine Synthase B. This domain is always found associated n-terminal amidotransferase domain. Family members that contain this domain catalyse the conversion of aspartate to asparagine. Asparagine synthetase B catalyzes the ...
    cd03766
    Location:1 → 179
    Gn_AT_II_novel; Gn_AT_II_novel. This asparagine synthase-related domain is present in eukaryotes but its function has not yet been determined. The glutaminase domain catalyzes an amide nitrogen transfer from glutamine to the appropriate substrate. In this process, ...

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_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    189661459..189670831
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    190150718..190160077
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9NWL6.2 GenPept UniProtKB/Swiss-Prot:Q9NWL6

Gene LinkOut

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