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    ABHD12B abhydrolase domain containing 12B [ Homo sapiens (human) ]

    Gene ID: 145447, updated on 5-Mar-2024

    Summary

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    Official Symbol
    ABHD12Bprovided by HGNC
    Official Full Name
    abhydrolase domain containing 12Bprovided by HGNC
    Primary source
    HGNC:HGNC:19837
    See related
    Ensembl:ENSG00000131969 AllianceGenome:HGNC:19837
    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
    BEM46L3; C14orf29; c14_5314
    Summary
    Predicted to enable acylglycerol lipase activity; lysophospholipase activity; and palmitoyl-(protein) hydrolase activity. Predicted to be involved in monoacylglycerol catabolic process and phosphatidylserine catabolic process. Predicted to be active in endoplasmic reticulum membrane. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Biased expression in skin (RPKM 6.3), brain (RPKM 0.8) and 2 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ABHD12B in Genome Data Viewer
    Location:
    14q22.1
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (50872053..50904970)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (45078480..45111409)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (51338771..51371688)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene ninein Neighboring gene uncharacterized LOC105370489 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8369 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5728 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8370 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5729 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5730 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5731 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5732 Neighboring gene small nucleolar RNA U83B Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5733 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr14:51359698-51360520 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr14:51362989-51363812 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr14:51376986-51378185 Neighboring gene glycogen phosphorylase L Neighboring gene mitochondrial ribosomal protein L57 pseudogene 9 Neighboring gene uncharacterized LOC124903314

    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 midbody interactome reveals unexpected roles for PP1 phosphatases in cytokinesis. Capalbo L, et al. Nat Commun, 2019 Oct 4. PMID 31586073, Free PMC Article
    2. Toward a confocal subcellular atlas of the human proteome. Barbe L, et al. Mol Cell Proteomics, 2008 Mar. PMID 18029348
    3. Histone Interaction Landscapes Visualized by Crosslinking Mass Spectrometry in Intact Cell Nuclei. Fasci D, et al. Mol Cell Proteomics, 2018 Oct. PMID 30021884, Free PMC Article
    4. The BioPlex Network: A Systematic Exploration of the Human Interactome. Huttlin EL, et al. Cell, 2015 Jul 16. PMID 26186194, Free PMC Article
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. Ota T, et al. Nat Genet, 2004 Jan. PMID 14702039

    See all (10) 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)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC129926, MGC129927

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables acylglycerol lipase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables lysophospholipase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in monoacylglycerol catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in phosphatidylserine catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in endoplasmic reticulum membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    protein ABHD12B
    Names
    abhydrolase domain-containing protein 12B
    alpha/beta hydrolase domain-containing protein 12B

    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_001206673.2 → NP_001193602.1  protein ABHD12B isoform a

      See identical proteins and their annotated locations for NP_001193602.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
      Source sequence(s)
      AL358334, AY311396
      Consensus CDS
      CCDS55916.1
      UniProtKB/Swiss-Prot
      Q3KNR9, Q3KNS0, Q7Z5M6, Q7Z5M7, Q7Z5M8, Q8N4D2
      Related
      ENSP00000336693.2, ENST00000337334.7
      Conserved Domains (2) summary
      pfam12146
      Location:141 → 343
      Hydrolase_4; Serine aminopeptidase, S33
      pfam12695
      Location:142 → 324
      Abhydrolase_5; Alpha/beta hydrolase family

    2. NM_181533.4 → NP_853511.2  protein ABHD12B isoform b

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and uses a downstream translation start site compared to variant 1. The encoded isoform (b) has a shorter N-terminus compared to isoform a.
      Source sequence(s)
      AL358334, AY311397
      UniProtKB/Swiss-Prot
      Q7Z5M8
      Conserved Domains (2) summary
      pfam12146
      Location:34 → 236
      Hydrolase_4; Serine aminopeptidase, S33
      pfam12695
      Location:35 → 217
      Abhydrolase_5; Alpha/beta hydrolase family

    3. NM_181814.2 → NP_861535.1  protein ABHD12B isoform c

      See identical proteins and their annotated locations for NP_861535.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks an alternate in-frame segment in the 5' coding region, compared to variant 1, resulting in an isoform (c) that is shorter than isoform a.
      Source sequence(s)
      AL358334, AY311398
      Consensus CDS
      CCDS9702.1
      UniProtKB/Swiss-Prot
      Q7Z5M8
      Related
      ENSP00000343951.1, ENST00000353130.5
      Conserved Domains (2) summary
      pfam12146
      Location:64 → 266
      Hydrolase_4; Serine aminopeptidase, S33
      pfam12695
      Location:65 → 247
      Abhydrolase_5; Alpha/beta hydrolase family

    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_000014.9 Reference GRCh38.p14 Primary Assembly

      Range
      50872053..50904970
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011536472.2 → XP_011534774.1  protein ABHD12B isoform X2

      Conserved Domains (1) summary
      pfam12695
      Location:142 → 259
      Abhydrolase_5; Alpha/beta hydrolase family

    2. XM_017021031.2 → XP_016876520.1  protein ABHD12B isoform X4

    3. XM_006720052.2 → XP_006720115.1  protein ABHD12B isoform X3

      Conserved Domains (1) summary
      pfam12695
      Location:65 → 182
      Abhydrolase_5; Alpha/beta hydrolase family

    4. XM_011536474.3 → XP_011534776.1  protein ABHD12B isoform X1

      Conserved Domains (2) summary
      pfam12146
      Location:99 → 301
      Hydrolase_4; Serine aminopeptidase, S33
      pfam12695
      Location:100 → 282
      Abhydrolase_5; Alpha/beta hydrolase family

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      45078480..45111409
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054375462.1 → XP_054231437.1  protein ABHD12B isoform X2

    2. XM_054375464.1 → XP_054231439.1  protein ABHD12B isoform X4

    3. XM_054375463.1 → XP_054231438.1  protein ABHD12B isoform X3

    4. XM_054375461.1 → XP_054231436.1  protein ABHD12B isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q7Z5M8.1 GenPept UniProtKB/Swiss-Prot:Q7Z5M8

    Gene LinkOut

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

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