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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
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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 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

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