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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

MDH1B Gene

protein-coding GIFtS: 41
GCID: GC02M207602

malate dehydrogenase 1B, NAD (soluble)

Explore 2 diseases affiliated with
MDH1B via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Malate Dehydrogenase 1B, NAD (Soluble)¹ ²
RP11-95H11¹ ²
FLJ25341¹
Putative Malate Dehydrogenase 1B²
EC 1.1.1.-³

External Ids:	HGNC: 17836¹	Entrez Gene: 130752²	Ensembl: ENSG00000138400⁷	UniProtKB: Q5I0G3³

Export aliases for MDH1B gene to outside databases

Previous GC identifers: GC00U991156 GC02M207805 GC02M207428 GC02M207310 GC02M199451

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000002.11 NC_018913.1 NT_005403.17

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the MDH1B gene promoter:
HSF1 (long) CUTL1 Cdc5 C/EBPalpha AREB6 POU2F1 POU2F1a HFH-1 Sox9 Ik-1
Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids

Search SABiosciences Chromatin IP Primers for MDH1B

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MDH1B

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 2q33.3 Ensembl cytogenetic band: 2q33.3 HGNC cytogenetic band: 2q33.3

MDH1B Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MDH1B gene location

GeneLoc information about chromosome 2 GeneLoc Exon Structure

GeneLoc location for GC02M207602: view genomic region (about GC identifiers)

Start:	207,602,487 bp from pter	End:	207,630,271 bp from pter
Size:	27,785 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: MDH1B_HUMAN, Q5I0G3 (See protein sequence)

Recommended Name: Putative malate dehydrogenase 1B

Size: 518 amino acids; 58651 Da

Secondary accessions: A8K8M1 Q53TK9 Q8IV51

Alternative splicing: 3 isoforms: Q5I0G3-1 Q5I0G3-2 Q5I0G3-3 (Ref.4 (AAH33509) sequence is in conflict in position: 261:I->T)

Explore the universe of human proteins at neXtProt for MDH1B: NX_Q5I0G3

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q5I0G3

MDH1B Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_001034934.1

ENSEMBL proteins:

ENSP00000363533 ENSP00000392464 ENSP00000416577 ENSP00000389916 ENSP00000403810

ENSP00000376049

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(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

MDH1B for domains About GeneDecksing

4 InterPro domains/families:

IPR010945 Malate_DH_type2

IPR022383 Lactate/malate_DH_C

IPR015955 Lactate_DH/Glyco_Ohase_4_C

IPR016040 NAD(P)-bd_dom

Graphical View of Domain Structure for InterPro Entry Q5I0G3

ProtoNet protein and cluster: Q5I0G3

1 Blocks protein family: IPB008267 Malate dehydrogenase

UniProtKB/Swiss-Prot: MDH1B_HUMAN, Q5I0G3

Similarity: Belongs to the LDH/MDH superfamily. MDH type 2 family

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Enzyme Number (IUBMB): EC 1.1.1.-¹

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In Situ Assay
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Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000166	nucleotide binding	IEA	--
GO:0016615	malate dehydrogenase activity	IEA	--
GO:0016616	oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor	IEA	--

MDH1B for ontologies About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for MDH1B

Gene Ontology (GO): 3 biological process terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005975	carbohydrate metabolic process	IEA	--
GO:0006099	tricarboxylic acid cycle	IEA	--
GO:0006108	malate metabolic process	IEA	--

MDH1B for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for MDH1B
Search CenterWatch for drugs/clinical trials and news about MDH1B

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
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About This Section

REFSEQ mRNAs for MDH1B gene (2 alternative transcripts):

NM_206892.1 NM_001039845.1

Unigene Cluster for MDH1B:

Malate dehydrogenase 1B, NAD (soluble)

Hs.147816 [show with all ESTs]

Unigene Representative Sequence: NM_001039845

7 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000374412(uc010ziw.2 uc002vbs.3 uc010fui.3) ENST00000432911(uc002vbt.3)

ENST00000449792(uc021vvm.1) ENST00000454776 ENST00000436472 ENST00000471988

ENST00000392214

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Additional cDNA sequence:

AK058070.1 AK292378.1 AK292386.1 AK302250.1 AK308257.1 AK309144.1 BC033509.1 BC088356.1

5 DOTS entries:

DT.40206723 DT.92003755 DT.86847255 DT.91707010 DT.120991682

24/41 AceView cDNA sequences (see all 41):

CR593018 BF221699 BM717644 AI783669 BF056314 AI076012 AK058070 AI025196

BF979825 BX371624 CD104917 BU844500 BX369192 AI221878 N66501 AA758811

AW118920 BX369191 BX098360 BC033509 CD251991 NM_206892 BF197105 AA889831

GeneLoc Exon Structure

4 Alternative Splicing Database (ASD) splice patterns (SP) for MDH1B About this scheme

ExUns:	1	^	2	^	3	^	4a	·	4b	^	5	^	6	^	7	^	8	^	9	^	10a	·	10b	^	11	^	12
SP1:									-												-
SP2:									-		-		-
SP3:									-		-		-
SP4:

ECgene alternative splicing isoforms for MDH1B

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

MDH1B expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: --

About this image

MDH1B expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

Stem Cell Differentiation: 1 LifeMap Cell

Name

Category

Posterior foregut-like cells (A scalable, suspensi...)

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See MDH1B Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for MDH1B

SOURCE GeneReport for Unigene cluster: Hs.147816

SABiosciences Expression via Pathway-Focused PCR Arrays including MDH1B:

Molecular Toxicology PathwayFinder 384HT in human mouse rat

Glucose Metabolism in human mouse rat

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In Situ
Assay Products:

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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of eukaryotes.

Orthologs for MDH1B gene from 7/22 species (see all 22) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Mdh1b^{1 , 5}	malate dehydrogenase 1B, NAD (soluble)^{1, 5}	77.25(n)¹ 72.34(a)¹		1 (32.31 cM)⁵ 76668¹ NM_029696.4¹ NP_083972.3¹ 63698819⁵
chicken (Gallus gallus)	Aves	MDH1B¹	malate dehydrogenase 1B, NAD (soluble)	63.4(n) 57.14(a)		424097 XM_421952.3 XP_421952.1
lizard (Anolis carolinensis)	Reptilia	MDH1B⁶	--	57(a)	1 ↔ 1	GL343208.1(345990-361213)
zebrafish (Danio rerio)	Actinopterygii	zgc:153922¹	zgc:153922	55.34(n) 47.43(a)		767794 NM_001076761.1 NP_001070229.1
honey bee (Apis mellifera)	Insecta	-- --	--	26(a) 24(a)	possible ortholog 1 ↔ 1	GroupUn.6039(78-1055) GroupUn.753(48762-51219)
thale cress (Arabidopsis thaliana)	eudicotyledons	AT5G58330⁶	lactate/malate dehydrogenase family protein	20(a)	possible ortholog	5(23579722-23582395)
rice (Oryza sativa)	Liliopsida	--	lactate/malate dehydrogenase, putative, expressed	21(a)	possible ortholog	8(28138328-28143556)

ENSEMBL Gene Tree for MDH1B (if available)
TreeFam Gene Tree for MDH1B (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for MDH1B gene

MDH1²

1 SIMAP similar gene for MDH1B using alignment to 3 protein entries: MDH1B_HUMAN (see all proteins):

MDH1

MDH1B for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 2 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs143631211^1,2		--	207601992(+)	`TCTGCA/GTAAAG`	1	--	ds500¹		0	--	--	--	--
rs4675633^1,2	C,F,A,H,	--	207602049(+)	`CTTGGG/ATTGAG`	1	--	ds500¹		13		NA WA CSA EA	515
rs148086166^1,2		--	207602050(+)	`TTGGGC/TTGAGG`	1	--	ds500¹		0	--	--	--	--
rs141909672^1,2		--	207602104(+)	`AAATCA/GATGTC`	1	--	ds500¹		0	--	--	--	--
rs55714216^1,2	C,	--	207602117(+)	`TAACAC/TGGATA`	1	--	ds500¹		2		WA	120
rs146084925^1,2		--	207602216(+)	`TATGAA/TGGTGC`	1	--	ds500¹		0	--	--	--	--
rs138973763^1,2		--	207602234(+)	`ATGCAA/GAAGAT`	1	--	ds500¹		0	--	--	--	--
rs114746434^1,2	F,	--	207602299(+)	`AAACAT/CACAGA`	1	--	ds500¹		1		WA	118
rs2193884^1,2	C,F,A,H,	--	207602424(-)	`AAAGCA/GGTAAT`	1	--	ds500¹		23		NS EA NA WA CSA	3837
rs183316182^1,2		--	207602851(+)	`CCACTC/TAGGTG`	1	--	ut3¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for MDH1B (207602487 - 207630271 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for MDH1B: --

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing MDH1B

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

MDH1B for disorders About GeneDecksing

2 diseases for MDH1B: About MalaCards

tuberculosis mycobacterium tuberculosis

Human Genome Epidemiology (HuGE) Navigator: MDH1B (1 document)

Export disorders for MDH1B gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for MDH1B gene integrated from 9 sources:
(articles sorted by number of sources associating them with MDH1B)

Utopia: connect your pdf to the dynamic
world of online information

Exome sequencing identifies frequent mutation of the SWI/SNF complex gene PBRM1 in renal carcinoma. (PubMed id 21248752)² Varela I....Futreal P.A. (2011)
Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)¹ Rose J.E....Uhl G.R. (2010)
Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)² Hillier L.W....Wilson R.K. (2005)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)² Gerhard D.S....Malek J. (2004)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)² Ota T.... Sugano S. (2004)
Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)¹ Strausberg R.L....Marra M.A. (2002)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 130752	HGNC: 17836	AceView: MDH1B	Ensembl:ENSG00000138400	euGenes: HUgn130752
ECgene: MDH1B	H-InvDB: MDH1B

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for MDH1B	Pharmacogenomics, SNPs, Pathways

Intellectual Property for MDH1B gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for MDH1B gene:
Search GeneIP for patents involving MDH1B

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
In Situ Hybridization Assays from
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About This Section


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	GenScript Custom Purified and Recombinant Proteins Services for MDH1B		GenScript cDNA clones with any tag delivered in your preferred vector for MDH1B
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Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MDH1B

GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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Category			VWF (GIFTS: 73) von Willebrand factor
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The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

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MDH1B Gene

malate dehydrogenase 1B, NAD (soluble)

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MDH1B Gene

malate dehydrogenase 1B, NAD (soluble)

Aliasesfor MDH1B gene

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Genomic Viewsfor MDH1B gene

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for MDH1B gene

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