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ABHD14B abhydrolase domain containing 14B [ Homo sapiens (human) ]

Gene ID: 84836, updated on 5-Mar-2024

Summary

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Official Symbol
ABHD14Bprovided by HGNC
Official Full Name
abhydrolase domain containing 14Bprovided by HGNC
Primary source
HGNC:HGNC:28235
See related
Ensembl:ENSG00000114779 AllianceGenome:HGNC:28235
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
CIB; HEL-S-299
Summary
Enables hydrolase activity. Involved in positive regulation of transcription by RNA polymerase II. Located in cytosol; nucleolus; and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in fat (RPKM 33.8), kidney (RPKM 32.8) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
3p21.2
Exon count:
4
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (51968510..51974630, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (52001429..52007549, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (52002526..52008646, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19921 Neighboring gene poly(ADP-ribose) polymerase family member 3 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:51990057-51990645 Neighboring gene G protein-coupled receptor 62 Neighboring gene poly(rC) binding protein 4 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:51999749-52000312 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:52000313-52000874 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14418 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14419 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14420 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:52002001-52002564 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:52002565-52003126 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:52007254-52008190 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19922 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14424 Neighboring gene ABHD14A-ACY1 readthrough Neighboring gene Sharpr-MPRA regulatory region 207 Neighboring gene abhydrolase domain containing 14A Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:52015181-52015682 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14425 Neighboring gene aminoacylase 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
  • 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. Functional Annotation of ABHD14B, an Orphan Serine Hydrolase Enzyme. Rajendran A, et al. Biochemistry, 2020 Jan 21. PMID 31478652, Free PMC Article
  2. Purification, crystallization and preliminary X-ray crystallographic analysis of human CCG1-interacting factor B. Padmanabhan B, et al. Acta Crystallogr D Biol Crystallogr, 2000 Nov. PMID 11053859
  3. A multi-omics analysis reveals that the lysine deacetylase ABHD14B influences glucose metabolism in mammals. Rajendran A, et al. J Biol Chem, 2022 Jul. PMID 35700823, Free PMC Article
  4. The crystal structure of CCG1/TAF(II)250-interacting factor B (CIB). Padmanabhan B, et al. J Biol Chem, 2004 Mar 5. PMID 14672934
  5. Endoglin Protein Interactome Profiling Identifies TRIM21 and Galectin-3 as New Binding Partners. Gallardo-Vara E, et al. Cells, 2019 Sep 13. PMID 31540324, Free PMC Article

See all (35) 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

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC15429

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables hydrolase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables hydrolase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables hydrolase activity TAS
Traceable Author Statement
more info
  
enables peptide-lysine-N-acetyltransferase activity IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in 3'-phosphoadenosine 5'-phosphosulfate metabolic process TAS
Traceable Author Statement
more info
  
involved_in positive regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in positive regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytosol IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytosol TAS
Traceable Author Statement
more info
  
located_in extracellular exosome HDA PubMed 
located_in nucleolus IDA
Inferred from Direct Assay
more info
  
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  
located_in nucleus IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
putative protein-lysine deacylase ABHD14B
Names
CCG1-interacting factor B
CCG1/TAFII250-interacting factor B
abhydrolase domain-containing protein 14B
alpha/beta hydrolase domain-containing protein 14B
cell cycle gene 1-interacting factor B
epididymis secretory protein Li 299
epididymis secretory sperm binding protein
protein ABHD14B
NP_001139786.1
NP_001241682.1
NP_116139.1

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_001146314.2 → NP_001139786.1  putative protein-lysine deacylase ABHD14B isoform 1

    See identical proteins and their annotated locations for NP_001139786.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same protein.
    Source sequence(s)
    AK096073, BC056411
    Consensus CDS
    CCDS2842.1
    UniProtKB/Swiss-Prot
    Q86VK8, Q8N8W5, Q96IU4
    UniProtKB/TrEMBL
    A0A024R352, F8W9U3, V9HW87
    Related
    ENSP00000354841.5, ENST00000361143.10
    Conserved Domains (2) summary
    PLN02679
    Location:150 → 209
    PLN02679; hydrolase, alpha/beta fold family protein
    COG0596
    Location:8 → 136
    MhpC; Pimeloyl-ACP methyl ester carboxylesterase [Coenzyme transport and metabolism, General function prediction only]

  2. NM_001254753.1 → NP_001241682.1  putative protein-lysine deacylase ABHD14B isoform 3

    See identical proteins and their annotated locations for NP_001241682.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) lacks an internal exon, which includes the translational start codon, compared to variant 1. The encoded protein is shorter and has a distinct N-terminus.
    Source sequence(s)
    AK096073, BU732936
    UniProtKB/Swiss-Prot
    Q96IU4
    Related
    ENST00000487005.1
    Conserved Domains (2) summary
    COG0596
    Location:102 → 171
    MhpC; Pimeloyl-ACP methyl ester carboxylesterase [Coenzyme transport and metabolism, General function prediction only]
    pfam12695
    Location:53 → 150
    Abhydrolase_5; Alpha/beta hydrolase family

  3. NM_032750.3 → NP_116139.1  putative protein-lysine deacylase ABHD14B isoform 1

    See identical proteins and their annotated locations for NP_116139.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript. Both variants 1 and 2 encode the same protein.
    Source sequence(s)
    AK096073, BC007234
    Consensus CDS
    CCDS2842.1
    UniProtKB/Swiss-Prot
    Q86VK8, Q8N8W5, Q96IU4
    UniProtKB/TrEMBL
    A0A024R352, F8W9U3, V9HW87
    Related
    ENSP00000378455.2, ENST00000395008.6
    Conserved Domains (2) summary
    PLN02679
    Location:150 → 209
    PLN02679; hydrolase, alpha/beta fold family protein
    COG0596
    Location:8 → 136
    MhpC; Pimeloyl-ACP methyl ester carboxylesterase [Coenzyme transport and metabolism, General function prediction only]

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_000003.12 Reference GRCh38.p14 Primary Assembly

    Range
    51968510..51974630 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

    Range
    52001429..52007549 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q96IU4.1 GenPept UniProtKB/Swiss-Prot:Q96IU4

Gene LinkOut

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