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    MDH1B malate dehydrogenase 1B [ Homo sapiens (human) ]

    Gene ID: 130752, updated on 27-Nov-2024

    Summary

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    Official Symbol
    MDH1Bprovided by HGNC
    Official Full Name
    malate dehydrogenase 1Bprovided by HGNC
    Primary source
    HGNC:HGNC:17836
    See related
    Ensembl:ENSG00000138400 AllianceGenome:HGNC:17836
    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
    RP11-95H11
    Summary
    Predicted to enable L-malate dehydrogenase (NAD+) activity. Predicted to be involved in NADH metabolic process; dicarboxylic acid metabolic process; and tricarboxylic acid cycle. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in testis (RPKM 13.6), thyroid (RPKM 2.3) and 5 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See MDH1B in Genome Data Viewer
    Location:
    2q33.3
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (206737763..206765328, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (207219869..207247441, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (207602487..207630052, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:207506983-207507562 Neighboring gene family with sequence similarity 237 member A Neighboring gene dystrotelin Neighboring gene VPS26C pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17027 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17028 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:207634423-207635622 Neighboring gene FAST kinase domains 2 Neighboring gene microRNA 3130-1 Neighboring gene microRNA 3130-2 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr2:207671457-207672284 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr2:207676275-207676890 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr2:207676891-207677508 Neighboring gene carboxypeptidase O

    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. Physical and functional interactome atlas of human receptor tyrosine kinases. Salokas K, et al. EMBO Rep, 2022 Jun 7. PMID 35384245, Free PMC Article
    2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. Rose JE, et al. Mol Med, 2010 Jul-Aug. PMID 20379614, Free PMC Article
    3. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12477932, Free PMC Article
    4. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Gaudet P, et al. Brief Bioinform, 2011 Sep. PMID 21873635, Free PMC Article

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ25341

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables L-malate dehydrogenase (NAD+) activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in NADH metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in malate metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in oxaloacetate metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in tricarboxylic acid cycle IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    putative malate dehydrogenase 1B
    Names
    malate dehydrogenase 1B, NAD (soluble)
    NP_001034934.1
    NP_001269869.1
    NP_001317152.1
    NP_001317153.1
    NP_001317154.1
    NP_001317155.1
    XP_005246373.1
    XP_047299380.1
    XP_054196563.1
    XP_054196564.1

    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_001039845.3 → NP_001034934.1  putative malate dehydrogenase 1B isoform a

      See identical proteins and their annotated locations for NP_001034934.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (a).
      Source sequence(s)
      AI076012, AK292378, BF979825
      Consensus CDS
      CCDS33365.1
      UniProtKB/Swiss-Prot
      A8K8M1, Q53TK9, Q5I0G3, Q8IV51
      Related
      ENSP00000363533.3, ENST00000374412.8
      Conserved Domains (2) summary
      TIGR01759
      Location:131 → 457
      MalateDH-SF1; malate dehydrogenase
      cd05295
      Location:9 → 459
      MDH_like; Malate dehydrogenase-like

    2. NM_001282940.2 → NP_001269869.1  putative malate dehydrogenase 1B isoform b

      See identical proteins and their annotated locations for NP_001269869.1

      Status: VALIDATED

      Source sequence(s)
      AI076012, AK292378, AK292386, BF979825
      Consensus CDS
      CCDS63102.1
      UniProtKB/Swiss-Prot
      Q5I0G3
      Related
      ENSP00000389916.2, ENST00000454776.6
      Conserved Domains (2) summary
      TIGR01759
      Location:131 → 457
      MalateDH-SF1; malate dehydrogenase
      cd05295
      Location:9 → 459
      MDH_like; Malate dehydrogenase-like

    3. NM_001330223.2 → NP_001317152.1  putative malate dehydrogenase 1B isoform c

      Status: VALIDATED

      Source sequence(s)
      AC008269, KF456757
      Consensus CDS
      CCDS82561.1
      UniProtKB/TrEMBL
      C9JER5
      Related
      ENSP00000416577.1, ENST00000449792.5
      Conserved Domains (2) summary
      TIGR01759
      Location:33 → 359
      MalateDH-SF1; malate dehydrogenase
      cl21454
      Location:1 → 361
      NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins

    4. NM_001330224.2 → NP_001317153.1  putative malate dehydrogenase 1B isoform d

      Status: VALIDATED

      Source sequence(s)
      AC008269, KF456757
      Conserved Domains (2) summary
      PLN00135
      Location:9 → 299
      PLN00135; malate dehydrogenase
      cl21454
      Location:1 → 301
      NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins

    5. NM_001330225.2 → NP_001317154.1  putative malate dehydrogenase 1B isoform e

      Status: VALIDATED

      Source sequence(s)
      AC008269, KF456757

    6. NM_001330226.2 → NP_001317155.1  putative malate dehydrogenase 1B isoform f

      Status: VALIDATED

      Source sequence(s)
      AC008269, KF456757

    RNA

    1. NR_104261.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks two exons in the central region and uses an alternate splice site in the 3' region, compared to variant 1. This variant is represented as non-coding because use of the expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AI076012, AK292378, AK309144, BC033509, BF979825
      Related
      ENST00000432911.5

    2. NR_138467.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC008269, KF456757

    3. NR_138468.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC008269, KF456757

    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_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      206737763..206765328 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005246316.6 → XP_005246373.1  putative malate dehydrogenase 1B isoform X2

      Conserved Domains (1) summary
      cl21454
      Location:9 → 246
      NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins

    2. XM_047443424.1 → XP_047299380.1  putative malate dehydrogenase 1B isoform X1

    RNA

    1. XR_922861.3 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      207219869..207247441 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054340589.1 → XP_054196564.1  putative malate dehydrogenase 1B isoform X2

    2. XM_054340588.1 → XP_054196563.1  putative malate dehydrogenase 1B isoform X1

    RNA

    1. XR_008486283.1 RNA Sequence

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_206892.1: Suppressed sequence

      Description
      NM_206892.1: This RefSeq was permanently suppressed because it is a nonsense-mediated decay (NMD) candidate.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5I0G3.1 GenPept UniProtKB/Swiss-Prot:Q5I0G3

    Gene LinkOut

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

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