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

Gene ID: 145447, updated on 2-Nov-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 lysophospholipase activity and monoacylglycerol lipase 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, Nov 2024]
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_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (50872053..50904970)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (45078480..45111409)
RS_2024_09 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 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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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 Variation Viewer (GRCh37.p13)

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 lysophospholipase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables monoacylglycerol lipase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
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_2024_08

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

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