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    HAGHL hydroxyacylglutathione hydrolase like [ Homo sapiens (human) ]

    Gene ID: 84264, updated on 28-Oct-2024

    Summary

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    Official Symbol
    HAGHLprovided by HGNC
    Official Full Name
    hydroxyacylglutathione hydrolase likeprovided by HGNC
    Primary source
    HGNC:HGNC:14177
    See related
    Ensembl:ENSG00000103253 AllianceGenome:HGNC:14177
    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
    Summary
    Predicted to enable hydroxyacylglutathione hydrolase activity. Predicted to be involved in methylglyoxal catabolic process to D-lactate via S-lactoyl-glutathione. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Broad expression in brain (RPKM 1.8), spleen (RPKM 1.6) and 20 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See HAGHL in Genome Data Viewer
    Location:
    16p13.3
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (727106..729715)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (731280..733889)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (777106..779715)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6945 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:765331-765928 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:765929-766526 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:766527-767124 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:769722-770429 Neighboring gene meteorin, glial cell differentiation regulator Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:770430-771136 Neighboring gene adenine nucleotide translocase lysine methyltransferase Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6949 Neighboring gene coiled-coil domain containing 78 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6950 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6951 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6952 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6953 Neighboring gene cytosolic iron-sulfur assembly component 3 Neighboring gene Sharpr-MPRA regulatory region 977 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:790544-791139 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6956 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:800614-801181 Neighboring gene MSLN promoter region Neighboring gene mesothelin

    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. Identification of HAGHL as a novel metabolic oncogene regulating human colorectal cancer progression. Xu Y, et al. Clin Transl Oncol, 2023 Apr. PMID 36417085
    2. Sequence, structure and pathology of the fully annotated terminal 2 Mb of the short arm of human chromosome 16. Daniels RJ, et al. Hum Mol Genet, 2001 Feb 15. PMID 11157797
    3. A negative genetic interaction map in isogenic cancer cell lines reveals cancer cell vulnerabilities. Vizeacoumar FJ, et al. Mol Syst Biol, 2013 Oct 8. PMID 24104479, Free PMC Article
    4. Interlaboratory reproducibility of large-scale human protein-complex analysis by standardized AP-MS. Varjosalo M, et al. Nat Methods, 2013 Apr. PMID 23455922
    5. Systematic protein-protein interaction mapping for clinically relevant human GPCRs. Sokolina K, et al. Mol Syst Biol, 2017 Mar 15. PMID 28298427, Free PMC Article

    See all (16) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Identification of HAGHL as a novel metabolic oncogene regulating human colorectal cancer progression.
      Title: Identification of HAGHL as a novel metabolic oncogene regulating human colorectal cancer progression.
    2. Observational study of gene-disease association. (HuGE Navigator)
      Title: New genetic associations detected in a host response study to hepatitis B vaccine.
    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

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC2605

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables hydroxyacylglutathione hydrolase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    hydroxyacylglutathione hydrolase-like protein
    Names
    GLO2-like/ RJD12
    NP_001277066.1
    NP_001277068.1
    NP_001310564.1
    NP_001310565.1
    NP_001352211.1
    NP_115680.1
    NP_996995.1
    XP_005255689.1
    XP_011521014.1
    XP_047290748.1
    XP_047290750.1
    XP_047290751.1
    XP_047290752.1
    XP_047290753.1
    XP_047290754.1
    XP_054170157.1
    XP_054170158.1
    XP_054170159.1
    XP_054170160.1
    XP_054170161.1
    XP_054170162.1

    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_001290137.2 → NP_001277066.1  hydroxyacylglutathione hydrolase-like protein isoform 2

      See identical proteins and their annotated locations for NP_001277066.1

      Status: VALIDATED

      Source sequence(s)
      BC004353, BG821643, BX090134, Z98258
      Consensus CDS
      CCDS32354.1
      UniProtKB/Swiss-Prot
      Q6PII5
      Conserved Domains (3) summary
      PLN02469
      Location:1 → 244
      PLN02469; hydroxyacylglutathione hydrolase
      pfam16123
      Location:173 → 251
      HAGH_C; Hydroxyacylglutathione hydrolase C-terminus
      cd07723
      Location:4 → 172
      hydroxyacylglutathione_hydrolase_MBL-fold; hydroxyacylglutathione hydrolase, MBL-fold metallo-hydrolase domain

    2. NM_001290139.2 → NP_001277068.1  hydroxyacylglutathione hydrolase-like protein isoform 2

      See identical proteins and their annotated locations for NP_001277068.1

      Status: VALIDATED

      Source sequence(s)
      BC004353, BX090134, CD050886, Z98258
      Consensus CDS
      CCDS32354.1
      UniProtKB/Swiss-Prot
      Q6PII5
      Related
      ENST00000389701.9
      Conserved Domains (3) summary
      PLN02469
      Location:1 → 244
      PLN02469; hydroxyacylglutathione hydrolase
      pfam16123
      Location:173 → 251
      HAGH_C; Hydroxyacylglutathione hydrolase C-terminus
      cd07723
      Location:4 → 172
      hydroxyacylglutathione_hydrolase_MBL-fold; hydroxyacylglutathione hydrolase, MBL-fold metallo-hydrolase domain

    3. NM_001323635.2 → NP_001310564.1  hydroxyacylglutathione hydrolase-like protein isoform 2

      Status: VALIDATED

      Source sequence(s)
      BI834617, BQ067068, DA056485, EL736395
      Consensus CDS
      CCDS32354.1
      UniProtKB/Swiss-Prot
      Q6PII5
      Conserved Domains (3) summary
      PLN02469
      Location:1 → 244
      PLN02469; hydroxyacylglutathione hydrolase
      pfam16123
      Location:173 → 251
      HAGH_C; Hydroxyacylglutathione hydrolase C-terminus
      cd07723
      Location:4 → 172
      hydroxyacylglutathione_hydrolase_MBL-fold; hydroxyacylglutathione hydrolase, MBL-fold metallo-hydrolase domain

    4. NM_001323636.2 → NP_001310565.1  hydroxyacylglutathione hydrolase-like protein isoform 3

      Status: VALIDATED

      Source sequence(s)
      AA489499, AW136334, DA056485, EL736395, Z98258

    5. NM_001365282.1 → NP_001352211.1  hydroxyacylglutathione hydrolase-like protein isoform 4

      Status: VALIDATED

      Source sequence(s)
      Z98258
      Consensus CDS
      CCDS92077.1
      UniProtKB/TrEMBL
      B4DED4, H3BT20
      Related
      ENSP00000456390.1, ENST00000561546.5
      Conserved Domains (1) summary
      PLN02469
      Location:1 → 226
      PLN02469; hydroxyacylglutathione hydrolase

    6. NM_032304.4 → NP_115680.1  hydroxyacylglutathione hydrolase-like protein isoform 2

      See identical proteins and their annotated locations for NP_115680.1

      Status: VALIDATED

      Source sequence(s)
      AK293575, BC004353, BX090134, Z98258
      Consensus CDS
      CCDS32354.1
      UniProtKB/Swiss-Prot
      Q6PII5
      UniProtKB/TrEMBL
      B4DED4
      Related
      ENSP00000374353.3, ENST00000389703.8
      Conserved Domains (3) summary
      PLN02469
      Location:1 → 244
      PLN02469; hydroxyacylglutathione hydrolase
      pfam16123
      Location:173 → 251
      HAGH_C; Hydroxyacylglutathione hydrolase C-terminus
      cd07723
      Location:4 → 172
      hydroxyacylglutathione_hydrolase_MBL-fold; hydroxyacylglutathione hydrolase, MBL-fold metallo-hydrolase domain

    7. NM_207112.2 → NP_996995.1  hydroxyacylglutathione hydrolase-like protein isoform 1

      Status: VALIDATED

      Source sequence(s)
      Z98258
      Consensus CDS
      CCDS32355.1
      UniProtKB/Swiss-Prot
      A6NCC4, D3DU64, Q59FX8, Q6PII5, Q96BZ3, Q96NR5, Q96S11, Q9BT45
      Related
      ENSP00000341952.4, ENST00000341413.8

    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_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      727106..729715
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005255632.2 → XP_005255689.1  hydroxyacylglutathione hydrolase-like protein isoform X3

      See identical proteins and their annotated locations for XP_005255689.1

      Conserved Domains (3) summary
      TIGR03413
      Location:6 → 245
      GSH_gloB; hydroxyacylglutathione hydrolase
      pfam16123
      Location:173 → 242
      HAGH_C; Hydroxyacylglutathione hydrolase C-terminus
      cd07723
      Location:4 → 172
      hydroxyacylglutathione_hydrolase_MBL-fold; hydroxyacylglutathione hydrolase, MBL-fold metallo-hydrolase domain

    2. XM_011522712.2 → XP_011521014.1  hydroxyacylglutathione hydrolase-like protein isoform X2

      Conserved Domains (3) summary
      PLN02469
      Location:1 → 243
      PLN02469; hydroxyacylglutathione hydrolase
      pfam16123
      Location:172 → 250
      HAGH_C; Hydroxyacylglutathione hydrolase C-terminus
      cd07723
      Location:4 → 171
      hydroxyacylglutathione_hydrolase_MBL-fold; hydroxyacylglutathione hydrolase, MBL-fold metallo-hydrolase domain

    3. XM_047434798.1 → XP_047290754.1  hydroxyacylglutathione hydrolase-like protein isoform X4

    4. XM_047434797.1 → XP_047290753.1  hydroxyacylglutathione hydrolase-like protein isoform X3

    5. XM_047434795.1 → XP_047290751.1  hydroxyacylglutathione hydrolase-like protein isoform X2

    6. XM_047434796.1 → XP_047290752.1  hydroxyacylglutathione hydrolase-like protein isoform X3

    7. XM_047434794.1 → XP_047290750.1  hydroxyacylglutathione hydrolase-like protein isoform X2

    8. XM_047434792.1 → XP_047290748.1  hydroxyacylglutathione hydrolase-like protein isoform X1

      UniProtKB/Swiss-Prot
      A6NCC4, D3DU64, Q59FX8, Q6PII5, Q96BZ3, Q96NR5, Q96S11, Q9BT45

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      731280..733889
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054314187.1 → XP_054170162.1  hydroxyacylglutathione hydrolase-like protein isoform X4

    2. XM_054314186.1 → XP_054170161.1  hydroxyacylglutathione hydrolase-like protein isoform X3

    3. XM_054314183.1 → XP_054170158.1  hydroxyacylglutathione hydrolase-like protein isoform X2

    4. XM_054314185.1 → XP_054170160.1  hydroxyacylglutathione hydrolase-like protein isoform X3

    5. XM_054314184.1 → XP_054170159.1  hydroxyacylglutathione hydrolase-like protein isoform X2

    6. XM_054314182.1 → XP_054170157.1  hydroxyacylglutathione hydrolase-like protein isoform X1

      UniProtKB/Swiss-Prot
      A6NCC4, D3DU64, Q59FX8, Q6PII5, Q96BZ3, Q96NR5, Q96S11, Q9BT45
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6PII5.1 GenPept UniProtKB/Swiss-Prot:Q6PII5

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

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