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

    Gene ID: 54529, updated on 14-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
    mouse all
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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)

    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 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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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