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HAGHL hydroxyacylglutathione hydrolase like [ Homo sapiens (human) ]

Gene ID: 84264, updated on 3-Apr-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 and metal ion binding activity. Predicted to be involved in methylglyoxal catabolic process to D-lactate via S-lactoyl-glutathione. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in brain (RPKM 1.8), spleen (RPKM 1.6) and 20 other tissues See more
Orthologs
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (727106..729715)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (731280..733889)
105.20220307 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
  • 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_2023_10

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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