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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
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Genomic context

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See HDHD3 in Genome Data Viewer
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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