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

    Gene ID: 84836, updated on 18-Dec-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 MIM:621040; 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, Dec 2024]
    Expression
    Ubiquitous expression in fat (RPKM 33.8), kidney (RPKM 32.8) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ABHD14B in Genome Data Viewer
    Location:
    3p21.2
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (51968510..51974630, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (52001429..52007549, complement)
    RS_2024_09 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. 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
    2. Functional Annotation of ABHD14B, an Orphan Serine Hydrolase Enzyme. Rajendran A, et al. Biochemistry, 2020 Jan 21. PMID 31478652, Free PMC Article
    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 (38) 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)

    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_2024_08

    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

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

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