Format

Send to:

Choose Destination

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

Gene ID: 130752, updated on 11-Jun-2021

Summary

Official Symbol
MDH1Bprovided by HGNC
Official Full Name
malate dehydrogenase 1Bprovided by HGNC
Primary source
HGNC:HGNC:17836
See related
Ensembl:ENSG00000138400
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
Expression
Biased expression in testis (RPKM 13.6), thyroid (RPKM 2.3) and 5 other tissues See more
Orthologs
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

See MDH1B in Genome Data Viewer
Location:
2q33.3
Exon count:
13
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (206737763..206765544, complement)
105.20201022 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 family with sequence similarity 237 member A Neighboring gene dystrotelin Neighboring gene VPS26C pseudogene 1 Neighboring gene FAST kinase domains 2 Neighboring gene microRNA 3130-1 Neighboring gene microRNA 3130-2 Neighboring gene carboxypeptidase O

Genomic regions, transcripts, and products

Expression

  • 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

General gene information

Markers

Homology

Clone Names

  • FLJ25341

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables L-malate dehydrogenase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
involved_in NADH metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in carbohydrate metabolic process IEA
Inferred from Electronic Annotation
more info
 
involved_in malate metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in oxaloacetate metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in tricarboxylic acid cycle IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

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

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

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_001039845.3NP_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
    Q5I0G3
    Related
    ENSP00000363533.3, ENST00000374412.8
    Conserved Domains (2) summary
    TIGR01759
    Location:131457
    MalateDH-SF1; malate dehydrogenase
    cd05295
    Location:9459
    MDH_like; Malate dehydrogenase-like
  2. NM_001282940.2NP_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:131457
    MalateDH-SF1; malate dehydrogenase
    cd05295
    Location:9459
    MDH_like; Malate dehydrogenase-like
  3. NM_001330223.2NP_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:33359
    MalateDH-SF1; malate dehydrogenase
    cl21454
    Location:1361
    NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins
  4. NM_001330224.2NP_001317153.1  putative malate dehydrogenase 1B isoform d

    Status: VALIDATED

    Source sequence(s)
    AC008269, KF456757
    Conserved Domains (2) summary
    PLN00135
    Location:9299
    PLN00135; malate dehydrogenase
    cl21454
    Location:1301
    NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins
  5. NM_001330225.2NP_001317154.1  putative malate dehydrogenase 1B isoform e

    Status: VALIDATED

    Source sequence(s)
    AC008269, KF456757
  6. NM_001330226.2NP_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: Homo sapiens Updated Annotation Release 109.20210514

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    206737763..206765544 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005246316.5XP_005246373.1  putative malate dehydrogenase 1B isoform X1

    Conserved Domains (1) summary
    cl21454
    Location:9246
    NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins

RNA

  1. XR_922861.3 RNA Sequence

  2. XR_001738631.2 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.
Support Center