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    HDHD5 haloacid dehalogenase like hydrolase domain containing 5 [ Homo sapiens (human) ]

    Gene ID: 27440, updated on 3-Nov-2024

    Summary

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    Official Symbol
    HDHD5provided by HGNC
    Official Full Name
    haloacid dehalogenase like hydrolase domain containing 5provided by HGNC
    Primary source
    HGNC:HGNC:1843
    See related
    Ensembl:ENSG00000069998 AllianceGenome:HGNC:1843
    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
    CECR5
    Summary
    Predicted to be involved in glycerophospholipid biosynthetic process. Located in mitochondrion. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in duodenum (RPKM 7.4), heart (RPKM 7.2) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See HDHD5 in Genome Data Viewer
    Location:
    22q11.1
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (17137520..17165287, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (17814107..17841872, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (17618410..17646177, complement)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13433 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:17602677-17603208 Neighboring gene transmembrane protein 121B Neighboring gene long intergenic non-protein coding RNA 1664 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:17618528-17619235 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:17619236-17619942 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:17624261-17624761 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13434 Neighboring gene HDHD5 antisense RNA 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:17652055-17652556 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:17668835-17669336 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:17669337-17669836 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:17670725-17671225 Neighboring gene adenosine deaminase 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:17676210-17676725 Neighboring gene uncharacterized LOC107985573 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:17679276-17679780 Neighboring gene ribosomal protein L32 pseudogene 5

    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. Analysis of the cat eye syndrome critical region in humans and the region of conserved synteny in mice: a search for candidate genes at or near the human chromosome 22 pericentromere. Footz TK, et al. Genome Res, 2001 Jun. PMID 11381032, Free PMC Article
    2. Characterization of mitochondrial FOXRED1 in the assembly of respiratory chain complex I. Formosa LE, et al. Hum Mol Genet, 2015 May 15. PMID 25678554
    3. Yeast two-hybrid identification of prostatic proteins interacting with human sex hormone-binding globulin. Pope SN, et al. J Steroid Biochem Mol Biol, 2005 Feb. PMID 15862967
    4. Mammalian BCAS3 and C16orf70 associate with the phagophore assembly site in response to selective and non-selective autophagy. Kojima W, et al. Autophagy, 2021 Aug. PMID 33499712, Free PMC Article
    5. A functional peptidyl-tRNA hydrolase, ICT1, has been recruited into the human mitochondrial ribosome. Richter R, et al. EMBO J, 2010 Mar 17. PMID 20186120, Free PMC Article

    See all (46) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
    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

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in glycerophospholipid biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in mitochondrion HTP PubMed 
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    haloacid dehalogenase-like hydrolase domain-containing 5
    Names
    cat eye syndrome chromosome region, candidate 5
    cat eye syndrome critical region protein 5

    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_017829.6 → NP_060299.4  haloacid dehalogenase-like hydrolase domain-containing 5 isoform 1

      See identical proteins and their annotated locations for NP_060299.4

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the shorter transcript and encodes the shorter isoform (1).
      Source sequence(s)
      AF273270, BF515203
      Consensus CDS
      CCDS13741.1
      UniProtKB/Swiss-Prot
      Q9BXW7
      Related
      ENSP00000155674.5, ENST00000155674.9
      Conserved Domains (2) summary
      TIGR01456
      Location:17 → 330
      CECR5; HAD-superfamily class IIA hydrolase, TIGR01456, CECR5
      pfam13344
      Location:19 → 122
      Hydrolase_6; Haloacid dehalogenase-like hydrolase

    2. NM_033070.3 → NP_149061.1  haloacid dehalogenase-like hydrolase domain-containing 5 isoform 2 precursor

      See identical proteins and their annotated locations for NP_149061.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate first exon compared to variant 1. The resulting isoform (2) is longer and has a distinct N-terminus compared to isoform 1.
      Source sequence(s)
      AF273271, AK000461, BF515203, BM558767
      Consensus CDS
      CCDS33595.1
      UniProtKB/Swiss-Prot
      B2RCK5, Q9BXW7, Q9BXW8, Q9NWA8, Q9NX41
      Related
      ENSP00000337358.4, ENST00000336737.8
      Conserved Domains (2) summary
      TIGR01456
      Location:47 → 360
      CECR5; HAD-superfamily class IIA hydrolase, TIGR01456, CECR5
      pfam13344
      Location:49 → 152
      Hydrolase_6; Haloacid dehalogenase-like hydrolase

    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_000022.11 Reference GRCh38.p14 Primary Assembly

      Range
      17137520..17165287 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011546126.4 → XP_011544428.1  haloacid dehalogenase-like hydrolase domain-containing 5 isoform X1

      Conserved Domains (2) summary
      TIGR01456
      Location:42 → 292
      CECR5; HAD-superfamily class IIA hydrolase, TIGR01456, CECR5
      cl21460
      Location:43 → 84
      HAD_like; Haloacid Dehalogenase-like Hydrolases

    2. XM_011546127.2 → XP_011544429.1  haloacid dehalogenase-like hydrolase domain-containing 5 isoform X2

      Conserved Domains (1) summary
      TIGR01456
      Location:1 → 238
      CECR5; HAD-superfamily class IIA hydrolase, TIGR01456, CECR5

    3. XM_005261236.5 → XP_005261293.1  haloacid dehalogenase-like hydrolase domain-containing 5 isoform X3

      UniProtKB/TrEMBL
      B3KVW8
      Conserved Domains (1) summary
      TIGR01456
      Location:1 → 199
      CECR5; HAD-superfamily class IIA hydrolase, TIGR01456, CECR5

    4. XM_047441340.1 → XP_047297296.1  haloacid dehalogenase-like hydrolase domain-containing 5 isoform X5

      Related
      ENST00000486462.1

    5. XM_047441339.1 → XP_047297295.1  haloacid dehalogenase-like hydrolase domain-containing 5 isoform X4

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060946.1 Alternate T2T-CHM13v2.0

      Range
      17814107..17841872 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054325562.1 → XP_054181537.1  haloacid dehalogenase-like hydrolase domain-containing 5 isoform X1

    2. XM_054325563.1 → XP_054181538.1  haloacid dehalogenase-like hydrolase domain-containing 5 isoform X2

    3. XM_054325564.1 → XP_054181539.1  haloacid dehalogenase-like hydrolase domain-containing 5 isoform X3

    4. XM_054325566.1 → XP_054181541.1  haloacid dehalogenase-like hydrolase domain-containing 5 isoform X5

    5. XM_054325565.1 → XP_054181540.1  haloacid dehalogenase-like hydrolase domain-containing 5 isoform X4

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9BXW7.1 GenPept UniProtKB/Swiss-Prot:Q9BXW7

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