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Protein

Putative malate dehydrogenase 1B

Gene

MDH1B

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at transcript leveli

Functioni

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionOxidoreductase
Biological processTricarboxylic acid cycle
LigandNAD

Names & Taxonomyi

Protein namesi
Recommended name:
Putative malate dehydrogenase 1B (EC:1.1.1.-)
Gene namesi
Name:MDH1B
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 2

Organism-specific databases

EuPathDBiHostDB:ENSG00000138400.12
HGNCiHGNC:17836 MDH1B
neXtProtiNX_Q5I0G3

Subcellular locationi

Pathology & Biotechi

Organism-specific databases

DisGeNETi130752
OpenTargetsiENSG00000138400
PharmGKBiPA30715

Polymorphism and mutation databases

BioMutaiMDH1B
DMDMi74736109

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003314351 – 518Putative malate dehydrogenase 1BAdd BLAST518

Proteomic databases

PaxDbiQ5I0G3
PeptideAtlasiQ5I0G3
PRIDEiQ5I0G3
ProteomicsDBi62966
62967 [Q5I0G3-2]
62968 [Q5I0G3-3]

PTM databases

iPTMnetiQ5I0G3
PhosphoSitePlusiQ5I0G3

Expressioni

Gene expression databases

BgeeiENSG00000138400 Expressed in 124 organ(s), highest expression level in bronchial epithelial cell
CleanExiHS_MDH1B
ExpressionAtlasiQ5I0G3 baseline and differential
GenevisibleiQ5I0G3 HS

Organism-specific databases

HPAiHPA073761

Interactioni

Protein-protein interaction databases

STRINGi9606.ENSP00000363533

Structurei

3D structure databases

ProteinModelPortaliQ5I0G3
SMRiQ5I0G3
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the LDH/MDH superfamily. MDH type 2 family.Curated

Phylogenomic databases

eggNOGiKOG1496 Eukaryota
COG0039 LUCA
GeneTreeiENSGT00530000063410
HOGENOMiHOG000006952
HOVERGENiHBG108123
InParanoidiQ5I0G3
OMAiHKITQHP
OrthoDBiEOG091G0E64
PhylomeDBiQ5I0G3
TreeFamiTF329007

Family and domain databases

Gene3Di3.90.110.10, 1 hit
InterProiView protein in InterPro
IPR015955 Lactate_DH/Glyco_Ohase_4_C
IPR010945 Malate_DH_type2
IPR036291 NAD(P)-bd_dom_sf
PANTHERiPTHR23382 PTHR23382, 1 hit
SUPFAMiSSF51735 SSF51735, 1 hit
SSF56327 SSF56327, 1 hit

Sequences (3+)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q5I0G3-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MAKFVIAGRA DCPYYAKTEL VADYLQKNLP DFRIHKITQR PEVWEDWLKD
60 70 80 90 100
VCEKNKWSHK NSPIIWRELL DRGGKGLLLG GYNEFLEHAQ LYYDVTSSMT
110 120 130 140 150
TELMMVIAQE NLGAHIEKEQ EEEALKTCIN PLQVWITSAS APACYNLIPI
160 170 180 190 200
LTSGEVFGMH TEISITLFDN KQAEEHLKSL VVETQDLASP VLRSVSICTK
210 220 230 240 250
VEEAFRQAHV IVVLDDSTNK EVFTLEDCLR SRVPLCRLYG YLIEKNAHES
260 270 280 290 300
VRVIVGGRTF VNLKTVLLMR YAPRIAHNII AVALGVEGEA KAILARKLKT
310 320 330 340 350
APSYIKDVII WGNISGNNYV DLRKTRVYRY ESAIWGPLHY SRPVLNLIFD
360 370 380 390 400
SEWVKREFVA ILKNLTTTGR QFGGILAAHS IATTLKYWYH GSPPGEIVSL
410 420 430 440 450
GILSEGQFGI PKGIVFSMPV KFENGTWVVL TDLKDVEISE QIMTRMTSDL
460 470 480 490 500
IQEKLVALGD KIHFQPYQSG HKDLVPDEEK NLAMSDAAEF PNQIPQTTFE
510
KPQSLEFLNE FEGKTVES
Length:518
Mass (Da):58,651
Last modified:February 15, 2005 - v1
Checksum:i4C64F26805E95CDD
GO
Isoform 2 (identifier: Q5I0G3-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     487-487: Missing.

Show »
Length:517
Mass (Da):58,579
Checksum:i8FC35D1CBBCEDA4F
GO
Isoform 3 (identifier: Q5I0G3-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     138-350: Missing.
     470-518: GHKDLVPDEE...NEFEGKTVES → DTPRINTLHPSIQSSWHSVLTITIRKR

Show »
Length:283
Mass (Da):32,404
Checksum:i2E16BBD9DA651BA7
GO

Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
C9JER5C9JER5_HUMAN
Putative malate dehydrogenase 1B
MDH1B
420Annotation score:
B4DY40B4DY40_HUMAN
Putative malate dehydrogenase 1B
MDH1B
133Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Isoform 3 (identifier: Q5I0G3-3)
Sequence conflicti261I → T in AAH33509 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06472948L → I Found in a renal cell carcinoma sample; somatic mutation. 1 Publication1
Natural variantiVAR_042861510E → D. Corresponds to variant dbSNP:rs2287631Ensembl.1
Natural variantiVAR_042862515T → A. Corresponds to variant dbSNP:rs2287632Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_033199138 – 350Missing in isoform 3. 1 PublicationAdd BLAST213
Alternative sequenceiVSP_033200470 – 518GHKDL…KTVES → DTPRINTLHPSIQSSWHSVL TITIRKR in isoform 3. 1 PublicationAdd BLAST49
Alternative sequenceiVSP_033201487Missing in isoform 2. 1 Publication1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK292378 mRNA Translation: BAF85067.1
AK292386 mRNA Translation: BAF85075.1
AC008269 Genomic DNA Translation: AAX93274.1
CH471063 Genomic DNA Translation: EAW70392.1
CH471063 Genomic DNA Translation: EAW70393.1
BC033509 mRNA Translation: AAH33509.1
BC088356 mRNA Translation: AAH88356.1
CCDSiCCDS33365.1 [Q5I0G3-1]
CCDS63102.1 [Q5I0G3-2]
RefSeqiNP_001034934.1, NM_001039845.2 [Q5I0G3-1]
NP_001269869.1, NM_001282940.1 [Q5I0G3-2]
UniGeneiHs.147816

Genome annotation databases

EnsembliENST00000374412; ENSP00000363533; ENSG00000138400 [Q5I0G3-1]
ENST00000432911; ENSP00000392464; ENSG00000138400 [Q5I0G3-3]
ENST00000454776; ENSP00000389916; ENSG00000138400 [Q5I0G3-2]
GeneIDi130752
KEGGihsa:130752
UCSCiuc002vbs.5 human [Q5I0G3-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK292378 mRNA Translation: BAF85067.1
AK292386 mRNA Translation: BAF85075.1
AC008269 Genomic DNA Translation: AAX93274.1
CH471063 Genomic DNA Translation: EAW70392.1
CH471063 Genomic DNA Translation: EAW70393.1
BC033509 mRNA Translation: AAH33509.1
BC088356 mRNA Translation: AAH88356.1
CCDSiCCDS33365.1 [Q5I0G3-1]
CCDS63102.1 [Q5I0G3-2]
RefSeqiNP_001034934.1, NM_001039845.2 [Q5I0G3-1]
NP_001269869.1, NM_001282940.1 [Q5I0G3-2]
UniGeneiHs.147816

3D structure databases

ProteinModelPortaliQ5I0G3
SMRiQ5I0G3
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

STRINGi9606.ENSP00000363533

PTM databases

iPTMnetiQ5I0G3
PhosphoSitePlusiQ5I0G3

Polymorphism and mutation databases

BioMutaiMDH1B
DMDMi74736109

Proteomic databases

PaxDbiQ5I0G3
PeptideAtlasiQ5I0G3
PRIDEiQ5I0G3
ProteomicsDBi62966
62967 [Q5I0G3-2]
62968 [Q5I0G3-3]

Protocols and materials databases

DNASUi130752
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000374412; ENSP00000363533; ENSG00000138400 [Q5I0G3-1]
ENST00000432911; ENSP00000392464; ENSG00000138400 [Q5I0G3-3]
ENST00000454776; ENSP00000389916; ENSG00000138400 [Q5I0G3-2]
GeneIDi130752
KEGGihsa:130752
UCSCiuc002vbs.5 human [Q5I0G3-1]

Organism-specific databases

CTDi130752
DisGeNETi130752
EuPathDBiHostDB:ENSG00000138400.12
GeneCardsiMDH1B
HGNCiHGNC:17836 MDH1B
HPAiHPA073761
neXtProtiNX_Q5I0G3
OpenTargetsiENSG00000138400
PharmGKBiPA30715
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1496 Eukaryota
COG0039 LUCA
GeneTreeiENSGT00530000063410
HOGENOMiHOG000006952
HOVERGENiHBG108123
InParanoidiQ5I0G3
OMAiHKITQHP
OrthoDBiEOG091G0E64
PhylomeDBiQ5I0G3
TreeFamiTF329007

Miscellaneous databases

GenomeRNAii130752
PROiPR:Q5I0G3

Gene expression databases

BgeeiENSG00000138400 Expressed in 124 organ(s), highest expression level in bronchial epithelial cell
CleanExiHS_MDH1B
ExpressionAtlasiQ5I0G3 baseline and differential
GenevisibleiQ5I0G3 HS

Family and domain databases

Gene3Di3.90.110.10, 1 hit
InterProiView protein in InterPro
IPR015955 Lactate_DH/Glyco_Ohase_4_C
IPR010945 Malate_DH_type2
IPR036291 NAD(P)-bd_dom_sf
PANTHERiPTHR23382 PTHR23382, 1 hit
SUPFAMiSSF51735 SSF51735, 1 hit
SSF56327 SSF56327, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiMDH1B_HUMAN
AccessioniPrimary (citable) accession number: Q5I0G3
Secondary accession number(s): A8K8M1, Q53TK9, Q8IV51
Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 29, 2008
Last sequence update: February 15, 2005
Last modified: September 12, 2018
This is version 120 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
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