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

    Gene ID: 80167, updated on 17-Jun-2019

    Summary

    Official Symbol
    ABHD18provided by HGNC
    Official Full Name
    abhydrolase domain containing 18provided by HGNC
    Primary source
    HGNC:HGNC:26111
    See related
    Ensembl:ENSG00000164074
    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
    Expression
    Ubiquitous expression in heart (RPKM 3.9), duodenum (RPKM 3.2) and 25 other tissues See more
    Orthologs

    Genomic context

    See ABHD18 in Genome Data Viewer
    Location:
    4q28.2
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    109.20190607 current GRCh38.p13 (GCF_000001405.39) 4 NC_000004.12 (127965261..128039927)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (128886411..128957478)

    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 RNA, U6 small nuclear 583, pseudogene Neighboring gene polo like kinase 4 Neighboring gene major facilitator superfamily domain containing 8 Neighboring gene La ribonucleoprotein domain family member 1B Neighboring gene ribosomal protein L15 pseudogene 8 Neighboring gene FOSL1 pseudogene 1

    Genomic regions, transcripts, and products

    Expression

    • 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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ21106, MGC149227, MGC149228

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    extracellular region IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

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

    NCBI Reference Sequences (RefSeq)

    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_001039717.2NP_001034806.1  protein ABHD18 isoform 6

      See identical proteins and their annotated locations for NP_001034806.1

      Status: VALIDATED

      Source sequence(s)
      AC099340
      Conserved Domains (1) summary
      pfam09752
      Location:16414
      DUF2048; Abhydrolase domain containing 18
    2. NM_001319305.2NP_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
      UniProtKB/TrEMBL
      B7WP89
      Related
      ENSP00000373447.5, ENST00000388795.9
      Conserved Domains (1) summary
      pfam09752
      Location:11375
      DUF2048; Uncharacterized conserved protein (DUF2048)
    3. NM_001319306.2NP_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
      Related
      ENSP00000480015.1, ENST00000611882.1
      Conserved Domains (1) summary
      cl21494
      Location:1330
      Abhydrolase; alpha/beta hydrolases
    4. NM_001319307.2NP_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:1288
      Abhydrolase; alpha/beta hydrolases
    5. NM_001358451.2NP_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
      Related
      ENSP00000496010.1, ENST00000645843.1
      Conserved Domains (1) summary
      pfam09752
      Location:16457
      DUF2048; Abhydrolase domain containing 18
    6. NM_001358454.2NP_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:16472
      DUF2048; Abhydrolase domain containing 18
    7. NM_001366037.2NP_001352966.1  protein ABHD18 isoform 8

      Status: VALIDATED

      Source sequence(s)
      AC099340
      Conserved Domains (1) summary
      cl21494
      Location:1254
      Abhydrolase; alpha/beta hydrolases
    8. NM_001366038.2NP_001352967.1  protein ABHD18 isoform 9

      Status: VALIDATED

      Source sequence(s)
      AC099340
      Conserved Domains (1) summary
      cl21494
      Location:109409
      Abhydrolase; alpha/beta hydrolases
    9. NM_001366039.2NP_001352968.1  protein ABHD18 isoform 10

      Status: VALIDATED

      Source sequence(s)
      AC099340
      Conserved Domains (1) summary
      pfam09752
      Location:16423
      DUF2048; Abhydrolase domain containing 18
    10. NM_001366040.2NP_001352969.1  protein ABHD18 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC099340
      Conserved Domains (1) summary
      cl21494
      Location:1288
      Abhydrolase; alpha/beta hydrolases
    11. NM_001366041.2NP_001352970.1  protein ABHD18 isoform 11

      Status: VALIDATED

      Source sequence(s)
      AC099340
      Conserved Domains (1) summary
      cl21494
      Location:1296
      Abhydrolase; alpha/beta hydrolases
    12. NM_001366042.2NP_001352971.1  protein ABHD18 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC099340
      Conserved Domains (1) summary
      cl21494
      Location:1288
      Abhydrolase; alpha/beta hydrolases
    13. NM_001366043.1NP_001352972.1  protein ABHD18 isoform 12

      Status: VALIDATED

      Source sequence(s)
      AC099340
      Conserved Domains (1) summary
      pfam09752
      Location:16448
      DUF2048; Abhydrolase domain containing 18
    14. NM_001366044.1NP_001352973.1  protein ABHD18 isoform 13

      Status: VALIDATED

      Source sequence(s)
      AC099340
      Conserved Domains (1) summary
      cl21494
      Location:1321
      Abhydrolase; alpha/beta hydrolases
    15. NM_001366045.1NP_001352974.1  protein ABHD18 isoform 13

      Status: VALIDATED

      Source sequence(s)
      AC099340
      Conserved Domains (1) summary
      cl21494
      Location:1321
      Abhydrolase; alpha/beta hydrolases
    16. NM_001366046.1NP_001352975.1  protein ABHD18 isoform 14

      Status: VALIDATED

      Source sequence(s)
      AC099340
      Conserved Domains (1) summary
      cl21494
      Location:1279
      Abhydrolase; alpha/beta hydrolases
    17. NM_001366047.1NP_001352976.1  protein ABHD18 isoform 13

      Status: VALIDATED

      Source sequence(s)
      AC099340
      Conserved Domains (1) summary
      cl21494
      Location:1321
      Abhydrolase; alpha/beta hydrolases
    18. NM_001366048.1NP_001352977.1  protein ABHD18 isoform 15

      Status: VALIDATED

      Source sequence(s)
      AC099340
      Conserved Domains (1) summary
      cl21494
      Location:11332
      Abhydrolase; alpha/beta hydrolases
    19. NM_025097.2NP_079373.2  protein ABHD18 isoform 7

      Status: VALIDATED

      Source sequence(s)
      AC099340
      Conserved Domains (1) summary
      cl21494
      Location:1245
      Abhydrolase; alpha/beta hydrolases

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000004.12 Reference GRCh38.p13 Primary Assembly

      Range
      127965261..128039927
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011532274.3XP_011530576.1  protein ABHD18 isoform X3

      Conserved Domains (1) summary
      pfam09752
      Location:16438
      DUF2048; Uncharacterized conserved protein (DUF2048)
    2. XM_011532276.2XP_011530578.1  protein ABHD18 isoform X4

      Conserved Domains (1) summary
      pfam09752
      Location:16429
      DUF2048; Uncharacterized conserved protein (DUF2048)
    3. XM_011532278.3XP_011530580.1  protein ABHD18 isoform X6

      Conserved Domains (1) summary
      cl21494
      Location:11341
      Abhydrolase; alpha/beta hydrolases
    4. XM_006714320.3XP_006714383.1  protein ABHD18 isoform X1

      See identical proteins and their annotated locations for XP_006714383.1

      Conserved Domains (1) summary
      pfam09752
      Location:16472
      DUF2048; Abhydrolase domain containing 18
    5. XM_024454226.1XP_024309994.1  protein ABHD18 isoform X1

      Conserved Domains (1) summary
      pfam09752
      Location:16472
      DUF2048; Abhydrolase domain containing 18
    6. XM_024454227.1XP_024309995.1  protein ABHD18 isoform X2

      Conserved Domains (1) summary
      pfam09752
      Location:16457
      DUF2048; Abhydrolase domain containing 18
    7. XM_006714322.3XP_006714385.1  protein ABHD18 isoform X7

      See identical proteins and their annotated locations for XP_006714385.1

      Conserved Domains (1) summary
      cl21494
      Location:1330
      Abhydrolase; alpha/beta hydrolases
    8. XM_011532279.2XP_011530581.1  protein ABHD18 isoform X9

      See identical proteins and their annotated locations for XP_011530581.1

      Conserved Domains (1) summary
      cl21494
      Location:1288
      Abhydrolase; alpha/beta hydrolases
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