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    GLOD4 glyoxalase domain containing 4 [ Homo sapiens (human) ]

    Gene ID: 51031, updated on 3-Apr-2024

    Summary

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    Official Symbol
    GLOD4provided by HGNC
    Official Full Name
    glyoxalase domain containing 4provided by HGNC
    Primary source
    HGNC:HGNC:14111
    See related
    Ensembl:ENSG00000167699 MIM:620650; AllianceGenome:HGNC:14111
    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
    HC6; HC71; CGI-150; C17orf25
    Summary
    Enables cadherin binding activity. Located in extracellular exosome. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in kidney (RPKM 28.9), duodenum (RPKM 28.6) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    17p13.3
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (759330..785895, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (644616..672323, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (662570..685520, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7943 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7942 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11439 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7944 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7945 Neighboring gene TLC domain containing 3A Neighboring gene gem nuclear organelle associated protein 4 Neighboring gene diazepam binding inhibitor-like 5, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11440 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:685572-686120 Neighboring gene Sharpr-MPRA regulatory region 8532 Neighboring gene mitochondrial rRNA methyltransferase 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11442 Neighboring gene nucleoredoxin Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:736782-737522 Neighboring gene Sharpr-MPRA regulatory region 9814 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:746053-747038 Neighboring gene uncharacterized LOC124903894 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:753668-754242 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:754898-755398 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:773909-774736 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:790499-790998 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr17:800010-801209 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr17:801761-802401 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:802905-803406 Neighboring gene uncharacterized LOC101927727 Neighboring gene Sharpr-MPRA regulatory region 13189

    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. The promoter analysis of the human C17orf25 gene, a novel chromosome 17p13.3 gene. Guo JY, et al. Cell Res, 2002 Dec. PMID 12528892
    2. Interaction of C17orf25 with ADP-ribose pyrophosphatase NUDT9 detected via yeast two-hybrid method. Zhang HT, et al. Sheng Wu Hua Xue Yu Sheng Wu Wu Li Xue Bao (Shanghai), 2003 Aug. PMID 12897971
    3. Cloning and characterization of a novel gene (C17orf25) from the deletion region on chromosome 17p13.3 in hepatocelular carcinoma. Qin WX, et al. Cell Res, 2001 Sep. PMID 11642406
    4. Refinement of a 400-kb critical region allows genotypic differentiation between isolated lissencephaly, Miller-Dieker syndrome, and other phenotypes secondary to deletions of 17p13.3. Cardoso C, et al. Am J Hum Genet, 2003 Apr. PMID 12621583, Free PMC Article
    5. DELTEX2 C-terminal domain recognizes and recruits ADP-ribosylated proteins for ubiquitination. Ahmed SF, et al. Sci Adv, 2020 Aug. PMID 32937373, Free PMC Article

    See all (38) 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

    EBI GWAS Catalog

    Description
    Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array.
    EBI GWAS Catalog

    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

    Function Evidence Code Pubs
    enables cadherin binding HDA PubMed 
    Component Evidence Code Pubs
    located_in extracellular exosome HDA PubMed 
    located_in mitochondrion IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    glyoxalase domain-containing protein 4

    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_001366247.2 → NP_001353176.1  glyoxalase domain-containing protein 4 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC087392
      Consensus CDS
      CCDS92216.1
      UniProtKB/Swiss-Prot
      D3DTG9, D3DTH1, Q96B89, Q9H3J8, Q9HC37, Q9HC38, Q9NVN1
      UniProtKB/TrEMBL
      A8K8F0
      Related
      ENSP00000301328.5, ENST00000301328.9
      Conserved Domains (2) summary
      cd16357
      Location:155 → 270
      GLOD4_C; C-terminal domain of human glyoxalase domain-containing protein 4 and similar proteins
      cl14632
      Location:4 → 145
      VOC; vicinal oxygen chelate (VOC) family

    2. NM_001366248.2 → NP_001353177.1  glyoxalase domain-containing protein 4 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC087392
      UniProtKB/TrEMBL
      A8K8F0, B3KV49
      Conserved Domains (2) summary
      cd16357
      Location:84 → 199
      GLOD4_C; C-terminal domain of human glyoxalase domain-containing protein 4 and similar proteins
      cl14632
      Location:1 → 74
      VOC; vicinal oxygen chelate (VOC) family

    3. NM_001366249.2 → NP_001353178.1  glyoxalase domain-containing protein 4 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC087392
      UniProtKB/TrEMBL
      A8K8F0, B7Z403
      Conserved Domains (2) summary
      cd16357
      Location:131 → 246
      GLOD4_C; C-terminal domain of human glyoxalase domain-containing protein 4 and similar proteins
      cl14632
      Location:39 → 121
      VOC; vicinal oxygen chelate (VOC) family

    4. NM_001366250.2 → NP_001353179.1  glyoxalase domain-containing protein 4 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC087392
      UniProtKB/TrEMBL
      A8K8F0, B7Z403
      Conserved Domains (2) summary
      cd16357
      Location:131 → 246
      GLOD4_C; C-terminal domain of human glyoxalase domain-containing protein 4 and similar proteins
      cl14632
      Location:39 → 121
      VOC; vicinal oxygen chelate (VOC) family

    5. NM_001389725.1 → NP_001376654.1  glyoxalase domain-containing protein 4 isoform 5

      Status: VALIDATED

      Source sequence(s)
      AC087392
      Conserved Domains (2) summary
      cd16357
      Location:206 → 321
      GLOD4_C; C-terminal domain of human glyoxalase domain-containing protein 4 and similar proteins
      cl14632
      Location:4 → 196
      VOC; vicinal oxygen chelate (VOC) family

    6. NM_001389726.1 → NP_001376655.1  glyoxalase domain-containing protein 4 isoform 6

      Status: VALIDATED

      Source sequence(s)
      AC087392
      UniProtKB/TrEMBL
      A8K8F0
      Conserved Domains (2) summary
      cd16357
      Location:177 → 292
      GLOD4_C; C-terminal domain of human glyoxalase domain-containing protein 4 and similar proteins
      cl14632
      Location:4 → 167
      VOC; vicinal oxygen chelate (VOC) family

    7. NM_001389727.1 → NP_001376656.1  glyoxalase domain-containing protein 4 isoform 7

      Status: VALIDATED

      Source sequence(s)
      AC087392
      UniProtKB/TrEMBL
      A8K8F0
      Conserved Domains (2) summary
      cd08358
      Location:4 → 130
      GLOD4_N; N-terminal domain of human glyoxalase domain-containing protein 4 and similar proteins
      cd16357
      Location:140 → 255
      GLOD4_C; C-terminal domain of human glyoxalase domain-containing protein 4 and similar proteins

    8. NM_001389728.1 → NP_001376657.1  glyoxalase domain-containing protein 4 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC087392
      UniProtKB/TrEMBL
      A8K8F0, B7Z403
      Conserved Domains (2) summary
      cd16357
      Location:131 → 246
      GLOD4_C; C-terminal domain of human glyoxalase domain-containing protein 4 and similar proteins
      cl14632
      Location:39 → 121
      VOC; vicinal oxygen chelate (VOC) family

    9. NM_001389729.1 → NP_001376658.1  glyoxalase domain-containing protein 4 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC087392
      UniProtKB/TrEMBL
      A8K8F0, B7Z403
      Conserved Domains (2) summary
      cd16357
      Location:131 → 246
      GLOD4_C; C-terminal domain of human glyoxalase domain-containing protein 4 and similar proteins
      cl14632
      Location:39 → 121
      VOC; vicinal oxygen chelate (VOC) family

    10. NM_001389730.1 → NP_001376659.1  glyoxalase domain-containing protein 4 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC087392
      UniProtKB/TrEMBL
      A8K8F0, B7Z403
      Conserved Domains (2) summary
      cd16357
      Location:131 → 246
      GLOD4_C; C-terminal domain of human glyoxalase domain-containing protein 4 and similar proteins
      cl14632
      Location:39 → 121
      VOC; vicinal oxygen chelate (VOC) family

    11. NM_001389731.1 → NP_001376660.1  glyoxalase domain-containing protein 4 isoform 8

      Status: VALIDATED

      Source sequence(s)
      AC087392
      UniProtKB/TrEMBL
      A8K8F0
      Conserved Domains (2) summary
      cd08358
      Location:4 → 130
      GLOD4_N; N-terminal domain of human glyoxalase domain-containing protein 4 and similar proteins
      cd16357
      Location:140 → 242
      GLOD4_C; C-terminal domain of human glyoxalase domain-containing protein 4 and similar proteins

    12. NM_001389732.1 → NP_001376661.1  glyoxalase domain-containing protein 4 isoform 9

      Status: VALIDATED

      Source sequence(s)
      AC087392
      UniProtKB/TrEMBL
      A8K8F0
      Conserved Domains (2) summary
      cd08358
      Location:4 → 130
      GLOD4_N; N-terminal domain of human glyoxalase domain-containing protein 4 and similar proteins
      cd16357
      Location:140 → 248
      GLOD4_C; C-terminal domain of human glyoxalase domain-containing protein 4 and similar proteins

    13. NM_001389733.1 → NP_001376662.1  glyoxalase domain-containing protein 4 isoform 10

      Status: VALIDATED

      Source sequence(s)
      AC087392
      UniProtKB/TrEMBL
      A8K8F0
      Conserved Domains (2) summary
      cd08358
      Location:4 → 130
      GLOD4_N; N-terminal domain of human glyoxalase domain-containing protein 4 and similar proteins
      cd16357
      Location:140 → 236
      GLOD4_C; C-terminal domain of human glyoxalase domain-containing protein 4 and similar proteins

    14. NM_001389734.1 → NP_001376663.1  glyoxalase domain-containing protein 4 isoform 11

      Status: VALIDATED

      Source sequence(s)
      AC087392
      UniProtKB/TrEMBL
      A8K8F0
      Conserved Domains (2) summary
      cd08358
      Location:4 → 130
      GLOD4_N; N-terminal domain of human glyoxalase domain-containing protein 4 and similar proteins
      cd16357
      Location:140 → 226
      GLOD4_C; C-terminal domain of human glyoxalase domain-containing protein 4 and similar proteins

    15. NM_001389735.1 → NP_001376664.1  glyoxalase domain-containing protein 4 isoform 12

      Status: VALIDATED

      Source sequence(s)
      AC087392
      UniProtKB/TrEMBL
      I3L3Q4
      Conserved Domains (2) summary
      cd08358
      Location:4 → 130
      GLOD4_N; N-terminal domain of human glyoxalase domain-containing protein 4 and similar proteins
      cl14632
      Location:140 → 217
      VOC; vicinal oxygen chelate (VOC) family

    16. NM_001389736.1 → NP_001376665.1  glyoxalase domain-containing protein 4 isoform 13

      Status: VALIDATED

      Source sequence(s)
      AC087392
      UniProtKB/TrEMBL
      I3L3Q4
      Related
      ENSP00000460634.1, ENST00000576419.1
      Conserved Domains (2) summary
      cd08358
      Location:4 → 130
      GLOD4_N; N-terminal domain of human glyoxalase domain-containing protein 4 and similar proteins
      cl14632
      Location:140 → 210
      VOC; vicinal oxygen chelate (VOC) family

    17. NM_016080.4 → NP_057164.3  glyoxalase domain-containing protein 4 isoform 1

      See identical proteins and their annotated locations for NP_057164.3

      Status: VALIDATED

      Source sequence(s)
      AF061730, BC008605, DA608953
      Consensus CDS
      CCDS32520.1
      UniProtKB/TrEMBL
      A8K8F0
      Related
      ENSP00000301329.6, ENST00000301329.11
      Conserved Domains (2) summary
      cd08358
      Location:4 → 130
      GLOD4_N; N-terminal domain of human glyoxalase domain-containing protein 4 and similar proteins
      cd16357
      Location:140 → 255
      GLOD4_C; C-terminal domain of human glyoxalase domain-containing protein 4 and similar proteins

    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_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      759330..785895 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047436196.1 → XP_047292152.1  glyoxalase domain-containing protein 4 isoform X1

      UniProtKB/TrEMBL
      B3KV49

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      644616..672323 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054316341.1 → XP_054172316.1  glyoxalase domain-containing protein 4 isoform X1

      UniProtKB/TrEMBL
      B3KV49
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9HC38.1 GenPept UniProtKB/Swiss-Prot:Q9HC38

    Gene LinkOut

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