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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

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