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    LDHAL6A lactate dehydrogenase A like 6A [ Homo sapiens (human) ]

    Gene ID: 160287, updated on 3-Nov-2024

    Summary

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    Official Symbol
    LDHAL6Aprovided by HGNC
    Official Full Name
    lactate dehydrogenase A like 6Aprovided by HGNC
    Primary source
    HGNC:HGNC:28335
    See related
    Ensembl:ENSG00000166800 MIM:618928; AllianceGenome:HGNC:28335
    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
    LDH6A
    Summary
    Enables L-lactate dehydrogenase activity. Predicted to be involved in lactate metabolic process and pyruvate metabolic process. Located in cytoplasm. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in testis (RPKM 3.4) and thyroid (RPKM 0.2) See more
    Orthologs
    all
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    Genomic context

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    See LDHAL6A in Genome Data Viewer
    Location:
    11p15.1
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (18455856..18479601)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (18553931..18577621)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (18477403..18501148)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:18416070-18416735 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3191 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr11:18417470-18417971 Neighboring gene lactate dehydrogenase A Neighboring gene lactate dehydrogenase C Neighboring gene ReSE screen-validated silencer GRCh37_chr11:18507685-18507894 Neighboring gene tumor susceptibility 101 Neighboring gene tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein beta pseudogene 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4502 Neighboring gene UEV and lactate/malate dehyrogenase domains Neighboring gene ReSE screen-validated silencer GRCh37_chr11:18600575-18600756 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4503 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4504 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4505 Neighboring gene Sharpr-MPRA regulatory region 13786

    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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    Related articles in PubMed

    1. 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
    2. Huntingtin interacting proteins are genetic modifiers of neurodegeneration. Kaltenbach LS, et al. PLoS Genet, 2007 May 11. PMID 17500595, Free PMC Article
    3. Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways. Sang L, et al. Cell, 2011 May 13. PMID 21565611, Free PMC Article
    4. ∆F508 CFTR interactome remodelling promotes rescue of cystic fibrosis. Pankow S, et al. Nature, 2015 Dec 24. PMID 26618866, Free PMC Article
    5. A Map of Human Mitochondrial Protein Interactions Linked to Neurodegeneration Reveals New Mechanisms of Redox Homeostasis and NF-κB Signaling. Malty RH, et al. Cell Syst, 2017 Dec 27. PMID 29128334, Free PMC Article

    See all (18) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. expression of LDHAL6A was able to activate transcriptional activities of AP1(PMA)
      Title: Identification of a novel human lactate dehydrogenase gene LDHAL6A, which activates transcriptional activities of AP1(PMA).
    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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    Markers

    Homology

    Clone Names

    • MGC23940

    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 IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in lactate metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in pyruvate metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in extracellular exosome HDA PubMed 
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    L-lactate dehydrogenase A-like 6A
    Names
    LDHA-like protein 6A
    NP_001137543.1
    NP_659409.2
    XP_005252862.2
    XP_011518224.2
    XP_011518225.1
    XP_011518226.1
    XP_011518227.1
    XP_054223838.1
    XP_054223839.1
    XP_054223840.1
    XP_054223841.1
    XP_054223842.1

    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_001144071.2 → NP_001137543.1  L-lactate dehydrogenase A-like 6A

      See identical proteins and their annotated locations for NP_001137543.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1.
      Source sequence(s)
      AC027544, AY581313
      Consensus CDS
      CCDS7841.1
      UniProtKB/Swiss-Prot
      D3DQY5, Q6ZMR3
      Related
      ENSP00000379516.3, ENST00000396213.7
      Conserved Domains (1) summary
      cd05293
      Location:19 → 329
      LDH_1; A subgroup of L-lactate dehydrogenases

    2. NM_144972.5 → NP_659409.2  L-lactate dehydrogenase A-like 6A

      See identical proteins and their annotated locations for NP_659409.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript.
      Source sequence(s)
      AC027544, AY581313
      Consensus CDS
      CCDS7841.1
      UniProtKB/Swiss-Prot
      D3DQY5, Q6ZMR3
      Related
      ENSP00000280706.2, ENST00000280706.3
      Conserved Domains (1) summary
      cd05293
      Location:19 → 329
      LDH_1; A subgroup of L-lactate dehydrogenases

    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_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      18455856..18479601
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011519923.3 → XP_011518225.1  L-lactate dehydrogenase A-like 6A isoform X3

      See identical proteins and their annotated locations for XP_011518225.1

      Conserved Domains (2) summary
      cd05293
      Location:19 → 347
      LDH_1; A subgroup of L-lactate dehydrogenases
      TIGR01771
      Location:25 → 343
      L-LDH-NAD; L-lactate dehydrogenase

    2. XM_011519922.3 → XP_011518224.2  L-lactate dehydrogenase A-like 6A isoform X1

    3. XM_005252805.5 → XP_005252862.2  L-lactate dehydrogenase A-like 6A isoform X2

      Conserved Domains (2) summary
      cd05293
      Location:43 → 353
      LDH_1; A subgroup of L-lactate dehydrogenases
      TIGR01771
      Location:49 → 349
      L-LDH-NAD; L-lactate dehydrogenase

    4. XM_011519925.2 → XP_011518227.1  L-lactate dehydrogenase A-like 6A isoform X3

      See identical proteins and their annotated locations for XP_011518227.1

      Conserved Domains (2) summary
      cd05293
      Location:19 → 347
      LDH_1; A subgroup of L-lactate dehydrogenases
      TIGR01771
      Location:25 → 343
      L-LDH-NAD; L-lactate dehydrogenase

    5. XM_011519924.3 → XP_011518226.1  L-lactate dehydrogenase A-like 6A isoform X3

      See identical proteins and their annotated locations for XP_011518226.1

      Conserved Domains (2) summary
      cd05293
      Location:19 → 347
      LDH_1; A subgroup of L-lactate dehydrogenases
      TIGR01771
      Location:25 → 343
      L-LDH-NAD; L-lactate dehydrogenase

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      18553931..18577621
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054367865.1 → XP_054223840.1  L-lactate dehydrogenase A-like 6A isoform X3

    2. XM_054367863.1 → XP_054223838.1  L-lactate dehydrogenase A-like 6A isoform X1

    3. XM_054367864.1 → XP_054223839.1  L-lactate dehydrogenase A-like 6A isoform X2

    4. XM_054367867.1 → XP_054223842.1  L-lactate dehydrogenase A-like 6A isoform X3

    5. XM_054367866.1 → XP_054223841.1  L-lactate dehydrogenase A-like 6A isoform X3

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6ZMR3.1 GenPept UniProtKB/Swiss-Prot:Q6ZMR3

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