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Protein

Glycerol-3-phosphate dehydrogenase [NAD(+)], cytoplasmic

Gene

GPD1

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

Functioni

Caution

Catalytic activityi

sn-glycerol 3-phosphate + NAD+ = glycerone phosphate + NADH.

Enzyme regulationi

Inhibited by zinc ions and sulfate.1 Publication

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Binding sitei41NAD1 Publication1
Binding sitei97NAD1 Publication1
Binding sitei120Substrate1
Binding sitei153NAD; via amide nitrogen1 Publication1
Active sitei204Proton acceptorCurated1
Binding sitei269NAD1 Publication1
Binding sitei296NAD; via amide nitrogen1 Publication1
Binding sitei298NAD1 Publication1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi10 – 15NAD1 Publication6

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionOxidoreductase
LigandNAD

Enzyme and pathway databases

BioCyciMetaCyc:HS09586-MONOMER
BRENDAi1.1.1.8 2681
ReactomeiR-HSA-1483166 Synthesis of PA
SABIO-RKiP21695

Chemistry databases

SwissLipidsiSLP:000000645

Names & Taxonomyi

Protein namesi
Recommended name:
Glycerol-3-phosphate dehydrogenase [NAD(+)], cytoplasmic (EC:1.1.1.8)
Short name:
GPD-C
Short name:
GPDH-C
Gene namesi
Name:GPD1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 12

Organism-specific databases

EuPathDBiHostDB:ENSG00000167588.12
HGNCiHGNC:4455 GPD1
MIMi138420 gene
neXtProtiNX_P21695

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm

Pathology & Biotechi

Involvement in diseasei

Hypertriglyceridemia, transient infantile (HTGTI)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive disorder characterized by onset of moderate to severe transient hypertriglyceridemia in infancy that normalizes with age. The hypertriglyceridemia is associated with hepatomegaly, moderately elevated transaminases, persistent fatty liver, and the development of hepatic fibrosis.
See also OMIM:614480
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_071967229R → P in HTGTI. 1 PublicationCorresponds to variant dbSNP:rs199673455Ensembl.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi2819
MalaCardsiGPD1
MIMi614480 phenotype
OpenTargetsiENSG00000167588
Orphaneti300293 Transient infantile hypertriglyceridemia and hepatosteatosis
PharmGKBiPA28836

Chemistry databases

DrugBankiDB00157 NADH

Polymorphism and mutation databases

BioMutaiGPD1
DMDMi134047785

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001380791 – 349Glycerol-3-phosphate dehydrogenase [NAD(+)], cytoplasmicAdd BLAST349

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei154PhosphoserineCombined sources1
Modified residuei289N6-succinyllysineBy similarity1
Modified residuei326PhosphotyrosineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQBiP21695
PaxDbiP21695
PeptideAtlasiP21695
PRIDEiP21695

PTM databases

iPTMnetiP21695
PhosphoSitePlusiP21695

Expressioni

Gene expression databases

BgeeiENSG00000167588
CleanExiHS_GPD1
ExpressionAtlasiP21695 baseline and differential
GenevisibleiP21695 HS

Organism-specific databases

HPAiHPA044620

Interactioni

Subunit structurei

Homodimer.1 Publication

GO - Molecular functioni

Protein-protein interaction databases

BioGridi1090808 interactors.
IntActiP21695 3 interactors.
STRINGi9606.ENSP00000301149

Structurei

Secondary structure

1349
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi4 – 9Combined sources6
Helixi13 – 28Combined sources16
Beta strandi32 – 39Combined sources8
Beta strandi44 – 49Combined sources6
Helixi50 – 57Combined sources8
Turni61 – 63Combined sources3
Beta strandi73 – 78Combined sources6
Helixi79 – 83Combined sources5
Beta strandi87 – 91Combined sources5
Helixi95 – 97Combined sources3
Helixi98 – 105Combined sources8
Beta strandi114 – 117Combined sources4
Beta strandi124 – 128Combined sources5
Helixi132 – 140Combined sources9
Beta strandi144 – 148Combined sources5
Helixi153 – 157Combined sources5
Beta strandi162 – 167Combined sources6
Helixi171 – 181Combined sources11
Beta strandi186 – 192Combined sources7
Helixi194 – 216Combined sources23
Helixi221 – 242Combined sources22
Beta strandi243 – 245Combined sources3
Helixi249 – 253Combined sources5
Turni255 – 257Combined sources3
Helixi258 – 267Combined sources10
Helixi269 – 280Combined sources12
Helixi284 – 291Combined sources8
Helixi298 – 313Combined sources16
Helixi316 – 318Combined sources3
Helixi320 – 330Combined sources11
Helixi335 – 338Combined sources4
Helixi339 – 343Combined sources5

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1WPQX-ray2.50A/B1-349[»]
1X0VX-ray2.30A/B1-349[»]
1X0XX-ray2.75A1-349[»]
ProteinModelPortaliP21695
SMRiP21695
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP21695

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni269 – 270Substrate binding2

Sequence similaritiesi

Phylogenomic databases

eggNOGiKOG2711 Eukaryota
COG0240 LUCA
GeneTreeiENSGT00390000003114
HOGENOMiHOG000246855
HOVERGENiHBG003669
InParanoidiP21695
KOiK00006
OMAiWLCKGFE
OrthoDBiEOG091G0DO6
PhylomeDBiP21695
TreeFamiTF300836

Family and domain databases

Gene3Di1.10.1040.101 hit
InterProiView protein in InterPro
IPR008927 6-PGluconate_DH-like_C_sf
IPR013328 6PGD_dom2
IPR006168 G3P_DH_NAD-dep
IPR006109 G3P_DH_NAD-dep_C
IPR017751 G3P_DH_NAD-dep_euk
IPR011128 G3P_DH_NAD-dep_N
IPR036291 NAD(P)-bd_dom_sf
PfamiView protein in Pfam
PF07479 NAD_Gly3P_dh_C, 1 hit
PF01210 NAD_Gly3P_dh_N, 1 hit
PIRSFiPIRSF000114 Glycerol-3-P_dh, 1 hit
PRINTSiPR00077 GPDHDRGNASE
SUPFAMiSSF48179 SSF48179, 1 hit
SSF51735 SSF51735, 1 hit
TIGRFAMsiTIGR03376 glycerol3P_DH, 1 hit
PROSITEiView protein in PROSITE
PS00957 NAD_G3PDH, 1 hit

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: P21695-1) [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
MASKKVCIVG SGNWGSAIAK IVGGNAAQLA QFDPRVTMWV FEEDIGGKKL
60 70 80 90 100
TEIINTQHEN VKYLPGHKLP PNVVAVPDVV QAAEDADILI FVVPHQFIGK
110 120 130 140 150
ICDQLKGHLK ANATGISLIK GVDEGPNGLK LISEVIGERL GIPMSVLMGA
160 170 180 190 200
NIASEVADEK FCETTIGCKD PAQGQLLKEL MQTPNFRITV VQEVDTVEIC
210 220 230 240 250
GALKNVVAVG AGFCDGLGFG DNTKAAVIRL GLMEMIAFAK LFCSGPVSSA
260 270 280 290 300
TFLESCGVAD LITTCYGGRN RKVAEAFART GKSIEQLEKE LLNGQKLQGP
310 320 330 340
ETARELYSIL QHKGLVDKFP LFMAVYKVCY EGQPVGEFIH CLQNHPEHM
Length:349
Mass (Da):37,568
Last modified:March 20, 2007 - v4
Checksum:iCE7B7681103076EF
GO
Isoform 2 (identifier: P21695-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     74-96: Missing.

Note: No experimental confirmation available.
Show »
Length:326
Mass (Da):35,140
Checksum:i61562929C503DB70
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02949254I → V1 PublicationCorresponds to variant dbSNP:rs2232202Ensembl.1
Natural variantiVAR_029493113A → P1 PublicationCorresponds to variant dbSNP:rs1128867Ensembl.1
Natural variantiVAR_067425124E → K1 PublicationCorresponds to variant dbSNP:rs34783513Ensembl.1
Natural variantiVAR_049220197V → A1 PublicationCorresponds to variant dbSNP:rs2232207Ensembl.1
Natural variantiVAR_067426223T → I1 PublicationCorresponds to variant dbSNP:rs200251017Ensembl.1
Natural variantiVAR_071967229R → P in HTGTI. 1 PublicationCorresponds to variant dbSNP:rs199673455Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_04599974 – 96Missing in isoform 2. 1 PublicationAdd BLAST23

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
L34041 mRNA Translation: AAA92863.1
AK130162 mRNA No translation available.
AC025154 Genomic DNA No translation available.
BC032234 mRNA Translation: AAH32234.1
M36917 Genomic DNA Translation: AAA35925.1
CCDSiCCDS58229.1 [P21695-2]
CCDS8799.1 [P21695-1]
PIRiS55920
RefSeqiNP_001244128.1, NM_001257199.1 [P21695-2]
NP_005267.2, NM_005276.3 [P21695-1]
UniGeneiHs.524418

Genome annotation databases

EnsembliENST00000301149; ENSP00000301149; ENSG00000167588 [P21695-1]
ENST00000548814; ENSP00000446768; ENSG00000167588 [P21695-2]
GeneIDi2819
KEGGihsa:2819
UCSCiuc001rvz.5 human [P21695-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiGPDA_HUMAN
AccessioniPrimary (citable) accession number: P21695
Secondary accession number(s): F8W1L5, Q8N1B0
Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 1, 1991
Last sequence update: March 20, 2007
Last modified: March 28, 2018
This is version 175 of the entry and version 4 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

3D-structure, Complete proteome, Reference proteome