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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
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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

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