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

Gene ID: 27440, updated on 27-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
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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
  • 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)

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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