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    LDHAL6B lactate dehydrogenase A like 6B [ Homo sapiens (human) ]

    Gene ID: 92483, updated on 5-Mar-2024

    Summary

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    Official Symbol
    LDHAL6Bprovided by HGNC
    Official Full Name
    lactate dehydrogenase A like 6Bprovided by HGNC
    Primary source
    HGNC:HGNC:21481
    See related
    Ensembl:ENSG00000171989 AllianceGenome:HGNC:21481
    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
    LDHL; LDH6B; LDHAL6
    Summary
    Predicted to enable L-lactate dehydrogenase activity. Predicted to be involved in pyruvate metabolic process. Located in nucleus. [provided by Alliance of Genome Resources, Apr 2022]
    Orthologs
    mouse all
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    Genomic context

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    See LDHAL6B in Genome Data Viewer
    Location:
    15q22.2
    Exon count:
    1
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (59206843..59208588)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (57008917..57010662)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (59499042..59500787)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:59423635-59424134 Neighboring gene cyclin B2 Neighboring gene Sharpr-MPRA regulatory region 4265 Neighboring gene myosin IE Neighboring gene OCT4 hESC enhancer GRCh37_chr15:59453332-59453833 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9486 Neighboring gene microRNA 2116 Neighboring gene RNA, U4 small nuclear 80, pseudogene Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:59521359-59521858 Neighboring gene Sharpr-MPRA regulatory region 2447 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6487 Neighboring gene ReSE screen-validated silencer GRCh37_chr15:59596416-59596592 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9487 Neighboring gene NANOG hESC enhancer GRCh37_chr15:59620781-59621282 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9488 Neighboring gene RNA, U6 small nuclear 212, pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Cloning and characterization of a novel intronless lactate dehydrogenase gene in human testis. Wang H, et al. Int J Mol Med, 2005 Jun. PMID 15870898
    2. Identification of a novel human lactate dehydrogenase gene LDHAL6A, which activates transcriptional activities of AP1(PMA). Chen X, et al. Mol Biol Rep, 2009 Apr. PMID 18351441
    3. Lactate dehydrogenase is an AU-rich element-binding protein that directly interacts with AUF1. Pioli PA, et al. J Biol Chem, 2002 Sep 20. PMID 12107167
    4. SNIP1 Recruits TET2 to Regulate c-MYC Target Genes and Cellular DNA Damage Response. Chen LL, et al. Cell Rep, 2018 Nov 6. PMID 30404004, Free PMC Article
    5. Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study. Flachsbart F, et al. Mutat Res, 2010 Dec 10. PMID 20800603

    See all (22) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
    Submit: New GeneRIF Correction

    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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    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables L-lactate dehydrogenase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables L-lactate dehydrogenase activity TAS
    Traceable Author Statement
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in lactate metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in lactate metabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in pyruvate metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in pyruvate metabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in pyruvate metabolic process TAS
    Traceable Author Statement
    more info
    		  
    Component Evidence Code Pubs
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in mitochondrial matrix TAS
    Traceable Author Statement
    more info
    		  
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus HDA PubMed 
    part_of oxidoreductase complex NAS
    Non-traceable Author Statement
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    L-lactate dehydrogenase A-like 6B
    Names
    lactate dehydrogenase A-like 6
    testicular tissue protein Li 105
    NP_149972.1

    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_033195.3 → NP_149972.1  L-lactate dehydrogenase A-like 6B

      See identical proteins and their annotated locations for NP_149972.1

      Status: VALIDATED

      Source sequence(s)
      AY642121, DB511998
      Consensus CDS
      CCDS10171.1
      UniProtKB/Swiss-Prot
      Q6DUY4, Q96LI2, Q9BYZ2
      UniProtKB/TrEMBL
      A0A140VJM9
      Related
      ENSP00000302393.4, ENST00000307144.6
      Conserved Domains (2) summary
      cd05293
      Location:68 → 376
      LDH_1; A subgroup of L-lactate dehydrogenases
      TIGR01771
      Location:74 → 374
      L-LDH-NAD; L-lactate dehydrogenase

    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_000015.10 Reference GRCh38.p14 Primary Assembly

      Range
      59206843..59208588
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060939.1 Alternate T2T-CHM13v2.0

      Range
      57008917..57010662
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9BYZ2.3 GenPept UniProtKB/Swiss-Prot:Q9BYZ2

    Gene LinkOut

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

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