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Protein

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

Gene

GPD1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

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

Complete GO annotation...

Keywords - Molecular functioni

Oxidoreductase

Keywords - Ligandi

NAD

Enzyme and pathway databases

BioCyciMetaCyc:HS09586-MONOMER.
ZFISH:HS09586-MONOMER.
BRENDAi1.1.1.8. 2681.
ReactomeiR-HSA-1483166. Synthesis of PA.
R-HSA-75109. Triglyceride Biosynthesis.
SABIO-RKP21695.

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

HGNCiHGNC:4455. GPD1.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

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 rs199673455dbSNPEnsembl.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

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

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

Protein-protein interaction databases

BioGridi109080. 8 interactors.
IntActiP21695. 3 interactors.
MINTiMINT-1429375.
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.
OMAiNFCEATI.
OrthoDBiEOG091G0DO6.
PhylomeDBiP21695.
TreeFamiTF300836.

Family and domain databases

Gene3Di1.10.1040.10. 1 hit.
3.40.50.720. 1 hit.
InterProiIPR008927. 6-PGluconate_DH_C-like.
IPR013328. 6PGD_dom_2.
IPR006168. G3P_DH_NAD-dep.
IPR006109. G3P_DH_NAD-dep_C.
IPR017751. G3P_DH_NAD-dep_euk.
IPR011128. G3P_DH_NAD-dep_N.
IPR016040. NAD(P)-bd_dom.
[Graphical view]
PfamiPF07479. NAD_Gly3P_dh_C. 1 hit.
PF01210. NAD_Gly3P_dh_N. 1 hit.
[Graphical view]
PIRSFiPIRSF000114. Glycerol-3-P_dh. 1 hit.
PRINTSiPR00077. GPDHDRGNASE.
SUPFAMiSSF48179. SSF48179. 1 hit.
SSF51735. SSF51735. 1 hit.
TIGRFAMsiTIGR03376. glycerol3P_DH. 1 hit.
PROSITEiPS00957. NAD_G3PDH. 1 hit.
[Graphical view]

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 → V.1 PublicationCorresponds to variant rs2232202dbSNPEnsembl.1
Natural variantiVAR_029493113A → P.1 PublicationCorresponds to variant rs1128867dbSNPEnsembl.1
Natural variantiVAR_067425124E → K.1 PublicationCorresponds to variant rs34783513dbSNPEnsembl.1
Natural variantiVAR_049220197V → A.1 PublicationCorresponds to variant rs2232207dbSNPEnsembl.1
Natural variantiVAR_067426223T → I.1 PublicationCorresponds to variant rs200251017dbSNPEnsembl.1
Natural variantiVAR_071967229R → P in HTGTI. 1 PublicationCorresponds to variant rs199673455dbSNPEnsembl.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

Cross-referencesi

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.

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...

Protein-protein interaction databases

BioGridi109080. 8 interactors.
IntActiP21695. 3 interactors.
MINTiMINT-1429375.
STRINGi9606.ENSP00000301149.

Chemistry databases

SwissLipidsiSLP:000000645.

PTM databases

iPTMnetiP21695.
PhosphoSitePlusiP21695.

Polymorphism and mutation databases

BioMutaiGPD1.
DMDMi134047785.

Proteomic databases

MaxQBiP21695.
PaxDbiP21695.
PeptideAtlasiP21695.
PRIDEiP21695.

Protocols and materials databases

DNASUi2819.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi2819.
DisGeNETi2819.
GeneCardsiGPD1.
HGNCiHGNC:4455. GPD1.
HPAiHPA044620.
MalaCardsiGPD1.
MIMi138420. gene.
614480. phenotype.
neXtProtiNX_P21695.
OpenTargetsiENSG00000167588.
Orphaneti300293. Transient infantile hypertriglyceridemia and hepatosteatosis.
PharmGKBiPA28836.
GenAtlasiSearch...

Phylogenomic databases

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

Enzyme and pathway databases

BioCyciMetaCyc:HS09586-MONOMER.
ZFISH:HS09586-MONOMER.
BRENDAi1.1.1.8. 2681.
ReactomeiR-HSA-1483166. Synthesis of PA.
R-HSA-75109. Triglyceride Biosynthesis.
SABIO-RKP21695.

Miscellaneous databases

ChiTaRSiGPD1. human.
EvolutionaryTraceiP21695.
GenomeRNAii2819.
PROiP21695.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000167588.
CleanExiHS_GPD1.
ExpressionAtlasiP21695. baseline and differential.
GenevisibleiP21695. HS.

Family and domain databases

Gene3Di1.10.1040.10. 1 hit.
3.40.50.720. 1 hit.
InterProiIPR008927. 6-PGluconate_DH_C-like.
IPR013328. 6PGD_dom_2.
IPR006168. G3P_DH_NAD-dep.
IPR006109. G3P_DH_NAD-dep_C.
IPR017751. G3P_DH_NAD-dep_euk.
IPR011128. G3P_DH_NAD-dep_N.
IPR016040. NAD(P)-bd_dom.
[Graphical view]
PfamiPF07479. NAD_Gly3P_dh_C. 1 hit.
PF01210. NAD_Gly3P_dh_N. 1 hit.
[Graphical view]
PIRSFiPIRSF000114. Glycerol-3-P_dh. 1 hit.
PRINTSiPR00077. GPDHDRGNASE.
SUPFAMiSSF48179. SSF48179. 1 hit.
SSF51735. SSF51735. 1 hit.
TIGRFAMsiTIGR03376. glycerol3P_DH. 1 hit.
PROSITEiPS00957. NAD_G3PDH. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiGPDA_HUMAN
AccessioniPrimary (citable) accession number: P21695
Secondary accession number(s): F8W1L5, Q8N1B0
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 1, 1991
Last sequence update: March 20, 2007
Last modified: November 2, 2016
This is version 165 of the entry and version 4 of the sequence. [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

Documents

  1. Human chromosome 12
    Human chromosome 12: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.