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    HDHD3 haloacid dehalogenase like hydrolase domain containing 3 [ Homo sapiens (human) ]

    Gene ID: 81932, updated on 5-Mar-2024

    Summary

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    Official Symbol
    HDHD3provided by HGNC
    Official Full Name
    haloacid dehalogenase like hydrolase domain containing 3provided by HGNC
    Primary source
    HGNC:HGNC:28171
    See related
    Ensembl:ENSG00000119431 AllianceGenome:HGNC:28171
    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
    C9orf158; 2810435D12Rik
    Summary
    Located in nucleolus. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in duodenum (RPKM 36.7), adrenal (RPKM 34.5) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    9q32
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (113373416..113376986, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (125572225..125575795, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (116135696..116139266, complement)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene WD repeat domain 31 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20198 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20199 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20200 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20201 Neighboring gene B-box and SPRY domain containing Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:116131698-116132198 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:116132199-116132699 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20202 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28837 Neighboring gene aminolevulinate dehydratase Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:116162720-116163300 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20203 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20204 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr9:116171753-116172952 Neighboring gene DNA polymerase epsilon 3, accessory subunit Neighboring gene chromosome 9 open reading frame 43

    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. Mitochondrial Fission Factor Is a Novel Interacting Protein of the Critical B Cell Survival Regulator TRAF3 in B Lymphocytes. Liu Y, et al. Front Immunol, 2021. PMID 34745083, Free PMC Article
    2. An empirical framework for binary interactome mapping. Venkatesan K, et al. Nat Methods, 2009 Jan. PMID 19060904, Free PMC Article
    3. Alterations in the brain interactome of the intrinsically disordered N-terminal domain of the cellular prion protein (PrPC) in Alzheimer's disease. Ulbrich S, et al. PLoS One, 2018. PMID 29791485, Free PMC Article
    4. AMPK, a Regulator of Metabolism and Autophagy, Is Activated by Lysosomal Damage via a Novel Galectin-Directed Ubiquitin Signal Transduction System. Jia J, et al. Mol Cell, 2020 Mar 5. PMID 31995728, Free PMC Article
    5. A Single Adaptable Cochaperone-Scaffold Complex Delivers Nascent Iron-Sulfur Clusters to Mammalian Respiratory Chain Complexes I-III. Maio N, et al. Cell Metab, 2017 Apr 4. PMID 28380382

    See all (19) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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

    • MGC12904

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleolus IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    haloacid dehalogenase-like hydrolase domain-containing protein 3

    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_001304509.2 → NP_001291438.1  haloacid dehalogenase-like hydrolase domain-containing protein 3

      See identical proteins and their annotated locations for NP_001291438.1

      Status: VALIDATED

      Source sequence(s)
      AK315401, BC031878, CN281644
      Consensus CDS
      CCDS6793.1
      UniProtKB/Swiss-Prot
      B2RD47, Q9BSH5
      UniProtKB/TrEMBL
      B3KUF6
      Related
      ENSP00000363295.3, ENST00000374180.4
      Conserved Domains (1) summary
      TIGR02252
      Location:8 → 210
      DREG-2; REG-2-like, HAD superfamily (subfamily IA) hydrolase

    2. NM_001304510.2 → NP_001291439.1  haloacid dehalogenase-like hydrolase domain-containing protein 3

      See identical proteins and their annotated locations for NP_001291439.1

      Status: VALIDATED

      Source sequence(s)
      BC031878, CN281644, DA964284
      Consensus CDS
      CCDS6793.1
      UniProtKB/Swiss-Prot
      B2RD47, Q9BSH5
      UniProtKB/TrEMBL
      B3KUF6
      Conserved Domains (1) summary
      TIGR02252
      Location:8 → 210
      DREG-2; REG-2-like, HAD superfamily (subfamily IA) hydrolase

    3. NM_001304511.2 → NP_001291440.1  haloacid dehalogenase-like hydrolase domain-containing protein 3

      See identical proteins and their annotated locations for NP_001291440.1

      Status: VALIDATED

      Source sequence(s)
      BC031878, CD515020, CN281644
      Consensus CDS
      CCDS6793.1
      UniProtKB/Swiss-Prot
      B2RD47, Q9BSH5
      UniProtKB/TrEMBL
      B3KUF6
      Conserved Domains (1) summary
      TIGR02252
      Location:8 → 210
      DREG-2; REG-2-like, HAD superfamily (subfamily IA) hydrolase

    4. NM_001371923.1 → NP_001358852.1  haloacid dehalogenase-like hydrolase domain-containing protein 3

      Status: VALIDATED

      Source sequence(s)
      AL137066
      Consensus CDS
      CCDS6793.1
      UniProtKB/Swiss-Prot
      B2RD47, Q9BSH5
      UniProtKB/TrEMBL
      B3KUF6
      Conserved Domains (1) summary
      TIGR02252
      Location:8 → 210
      DREG-2; REG-2-like, HAD superfamily (subfamily IA) hydrolase

    5. NM_031219.4 → NP_112496.1  haloacid dehalogenase-like hydrolase domain-containing protein 3

      See identical proteins and their annotated locations for NP_112496.1

      Status: VALIDATED

      Source sequence(s)
      AL137066
      Consensus CDS
      CCDS6793.1
      UniProtKB/Swiss-Prot
      B2RD47, Q9BSH5
      UniProtKB/TrEMBL
      B3KUF6
      Related
      ENSP00000238379.5, ENST00000238379.9
      Conserved Domains (1) summary
      TIGR02252
      Location:8 → 210
      DREG-2; REG-2-like, HAD superfamily (subfamily IA) hydrolase

    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_000009.12 Reference GRCh38.p14 Primary Assembly

      Range
      113373416..113376986 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      125572225..125575795 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9BSH5.1 GenPept UniProtKB/Swiss-Prot:Q9BSH5

    Gene LinkOut

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

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