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    ABHD18 abhydrolase domain containing 18 [ Homo sapiens (human) ]

    Gene ID: 80167, updated on 2-Nov-2024

    Summary

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    Official Symbol
    ABHD18provided by HGNC
    Official Full Name
    abhydrolase domain containing 18provided by HGNC
    Primary source
    HGNC:HGNC:26111
    See related
    Ensembl:ENSG00000164074 AllianceGenome:HGNC:26111
    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
    C4orf29
    Summary
    Located in mitochondrion. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in heart (RPKM 3.9), duodenum (RPKM 3.2) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ABHD18 in Genome Data Viewer
    Location:
    4q28.2
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (127965406..128039953)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (131269448..131343978)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (128886561..128961108)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene heat shock protein family A (Hsp70) member 4 like Neighboring gene ribosomal protein L21 pseudogene 53 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr4:128767199-128767740 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_73803 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21887 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_73815 Neighboring gene RNA, U6 small nuclear 583, pseudogene Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_73859 Neighboring gene polo like kinase 4 Neighboring gene major facilitator superfamily domain containing 8 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15675 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:128886145-128886760 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15677 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15676 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15678 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:128887439-128887940 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:128887941-128888440 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15679 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_73920 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_73968 Neighboring gene H3K27ac hESC enhancers GRCh37_chr4:128981832-128982690 and GRCh37_chr4:128982691-128983549 Neighboring gene MPRA-validated peak5106 silencer Neighboring gene La ribonucleoprotein 1B Neighboring gene ribosomal protein L15 pseudogene 8 Neighboring gene FOSL1 pseudogene 1

    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. A novel p53 regulator, C16ORF72/TAPR1, buffers against telomerase inhibition. Benslimane Y, et al. Aging Cell, 2021 Apr. PMID 33660365, Free PMC Article
    2. Quantitative high-confidence human mitochondrial proteome and its dynamics in cellular context. Morgenstern M, et al. Cell Metab, 2021 Dec 7. PMID 34800366, Free PMC Article
    3. TRABID targets DDB2 for deubiquitination to promote proliferation of hepatocellular carcinoma cells. Chen Y, et al. Biochem Biophys Res Commun, 2022 Oct 15. PMID 35944360
    4. OpenCell: Endogenous tagging for the cartography of human cellular organization. Cho NH, et al. Science, 2022 Mar 11. PMID 35271311, Free PMC Article
    5. The BioPlex Network: A Systematic Exploration of the Human Interactome. Huttlin EL, et al. Cell, 2015 Jul 16. PMID 26186194, Free PMC Article

    See all (8) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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

    Clone Names

    • FLJ21106, MGC149227, MGC149228

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    located_in extracellular region IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in mitochondrion HTP PubMed 

    General protein information

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    Preferred Names
    protein ABHD18
    Names
    abhydrolase domain-containing protein 18
    alpha/beta hydrolase domain-containing protein 18

    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_001039717.2 → NP_001034806.1  protein ABHD18 isoform 6

      See identical proteins and their annotated locations for NP_001034806.1

      Status: VALIDATED

      Source sequence(s)
      AC099340
      UniProtKB/Swiss-Prot
      A1A4W8, A1A4W9, Q0P651, Q9H7A7
      Related
      ENSP00000397229.1, ENST00000444616.5
      Conserved Domains (1) summary
      pfam09752
      Location:16 → 414
      DUF2048; Abhydrolase domain containing 18

    2. NM_001319305.3 → NP_001306234.1  protein ABHD18 isoform 1

      Status: VALIDATED

      Description
      Transcript Variant:This variant (1) lacks an alternate exon in the 5' region and uses a downstream start codon compared to variant 5. It encodes isoform 1 which has a shorter N-terminus compared to isoform 5 .
      Source sequence(s)
      AC099340, BC058847, BX119453, HY086029
      Conserved Domains (1) summary
      pfam09752
      Location:11 → 375
      DUF2048; Uncharacterized conserved protein (DUF2048)

    3. NM_001319306.3 → NP_001306235.1  protein ABHD18 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks multiple alternate exons in the 5' region and uses a downstream start codon compared to variant 5. It encodes isoform 2 which has a shorter N-terminus compared to isoform 5.
      Source sequence(s)
      AC099340, BC111400, BX119453
      Conserved Domains (1) summary
      cl21494
      Location:1 → 330
      Abhydrolase; alpha/beta hydrolases

    4. NM_001319307.3 → NP_001306236.1  protein ABHD18 isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) has multiple differences and uses a downstream start codon compared to variant 5. It encodes isoform 3 which has a shorter N-terminus compared to isoform 5.
      Source sequence(s)
      AC099340, BC058898, BX119453
      Conserved Domains (1) summary
      cl21494
      Location:1 → 288
      Abhydrolase; alpha/beta hydrolases

    5. NM_001358451.3 → NP_001345380.1  protein ABHD18 isoform 4

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) lacks an alternate in-frame exon in the 5' coding region compared to variant 5. It encodes isoform 4 which is shorter compared to isoform 5.
      Source sequence(s)
      AC099340, BX119453
      Consensus CDS
      CCDS87261.1
      UniProtKB/TrEMBL
      A0A2R8YEZ0
      Related
      ENSP00000496010.1, ENST00000645843.2
      Conserved Domains (1) summary
      pfam09752
      Location:16 → 457
      DUF2048; Abhydrolase domain containing 18

    6. NM_001358454.3 → NP_001345383.1  protein ABHD18 isoform 5

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) encodes the longest isoform (5).
      Source sequence(s)
      AC099340, BX119453
      Conserved Domains (1) summary
      pfam09752
      Location:16 → 472
      DUF2048; Abhydrolase domain containing 18

    7. NM_001366037.3 → NP_001352966.1  protein ABHD18 isoform 8

      Status: VALIDATED

      Source sequence(s)
      AC099340
      Conserved Domains (1) summary
      cl21494
      Location:1 → 254
      Abhydrolase; alpha/beta hydrolases

    8. NM_001366038.3 → NP_001352967.1  protein ABHD18 isoform 9

      Status: VALIDATED

      Source sequence(s)
      AC099340
      Conserved Domains (1) summary
      cl21494
      Location:109 → 409
      Abhydrolase; alpha/beta hydrolases

    9. NM_001366039.3 → NP_001352968.1  protein ABHD18 isoform 10

      Status: VALIDATED

      Source sequence(s)
      AC099340
      Conserved Domains (1) summary
      pfam09752
      Location:16 → 423
      DUF2048; Abhydrolase domain containing 18

    10. NM_001366040.3 → NP_001352969.1  protein ABHD18 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC099340
      Conserved Domains (1) summary
      cl21494
      Location:1 → 288
      Abhydrolase; alpha/beta hydrolases

    11. NM_001366041.3 → NP_001352970.1  protein ABHD18 isoform 11

      Status: VALIDATED

      Source sequence(s)
      AC099340
      Conserved Domains (1) summary
      cl21494
      Location:1 → 296
      Abhydrolase; alpha/beta hydrolases

    12. NM_001366042.3 → NP_001352971.1  protein ABHD18 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC099340
      Conserved Domains (1) summary
      cl21494
      Location:1 → 288
      Abhydrolase; alpha/beta hydrolases

    13. NM_001366043.1 → NP_001352972.1  protein ABHD18 isoform 12

      Status: VALIDATED

      Source sequence(s)
      AC099340
      Conserved Domains (1) summary
      pfam09752
      Location:16 → 448
      DUF2048; Abhydrolase domain containing 18

    14. NM_001366044.1 → NP_001352973.1  protein ABHD18 isoform 13

      Status: VALIDATED

      Source sequence(s)
      AC099340
      Consensus CDS
      CCDS93632.1
      Conserved Domains (1) summary
      cl21494
      Location:1 → 321
      Abhydrolase; alpha/beta hydrolases

    15. NM_001366045.1 → NP_001352974.1  protein ABHD18 isoform 13

      Status: VALIDATED

      Source sequence(s)
      AC099340
      Consensus CDS
      CCDS93632.1
      Conserved Domains (1) summary
      cl21494
      Location:1 → 321
      Abhydrolase; alpha/beta hydrolases

    16. NM_001366046.1 → NP_001352975.1  protein ABHD18 isoform 14

      Status: VALIDATED

      Source sequence(s)
      AC099340
      Conserved Domains (1) summary
      cl21494
      Location:1 → 279
      Abhydrolase; alpha/beta hydrolases

    17. NM_001366047.1 → NP_001352976.1  protein ABHD18 isoform 13

      Status: VALIDATED

      Source sequence(s)
      AC099340
      Consensus CDS
      CCDS93632.1
      Conserved Domains (1) summary
      cl21494
      Location:1 → 321
      Abhydrolase; alpha/beta hydrolases

    18. NM_001366048.1 → NP_001352977.1  protein ABHD18 isoform 15

      Status: VALIDATED

      Source sequence(s)
      AC099340
      Conserved Domains (1) summary
      cl21494
      Location:11 → 332
      Abhydrolase; alpha/beta hydrolases

    19. NM_025097.2 → NP_079373.2  protein ABHD18 isoform 7

      Status: VALIDATED

      Source sequence(s)
      AC099340
      Conserved Domains (1) summary
      cl21494
      Location:1 → 245
      Abhydrolase; alpha/beta hydrolases

    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_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      127965406..128039953
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      131269448..131343978
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q0P651.1 GenPept UniProtKB/Swiss-Prot:Q0P651

    Gene LinkOut

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

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