Reviewed, UniProtKB/Swiss-Prot P43304 (GPDM_HUMAN)

Names and origin

Protein names

Recommended name:
    Glycerol-3-phosphate dehydrogenase, mitochondrial
      Short name=GPDH-M
      Short name=GPD-M
    EC=1.1.5.3
Alternative name(s):
    mtGPD

Gene names

Name:

GPD2

Organism

Homo sapiens (Human) [Complete proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	727 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence at protein level.

General annotation (Comments)

Catalytic activity	sn-glycerol 3-phosphate + a quinone = glycerone phosphate + a quinol.
Cofactor	FAD.
Enzyme regulation	Calcium-binding enhance the activity of the enzyme.
Pathway	Polyol metabolism; glycerol degradation via glycerol kinase pathway; glycerone phosphate from sn-glycerol 3-phosphate (anaerobic route): step 1/1.
Subcellular location	Mitochondrion.
Sequence similarities	Belongs to the FAD-dependent glycerol-3-phosphate dehydrogenase family. Contains 2 EF-hand domains.

Ontologies

Keywords
Cellular component	Mitochondrion
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Repeat Transit peptide
Ligand	Calcium FAD Flavoprotein
Molecular function	Oxidoreductase
PTM	Phosphoprotein
Technical term	Complete proteome Direct protein sequencing
Gene Ontology (GO)
Biological process	oxidation reduction Inferred from electronic annotation. Source: UniProtKB-KW
Cellular component	glycerol-3-phosphate dehydrogenase complex Inferred from electronic annotation. Source: InterPro
Molecular function	calcium ion binding Traceable author statement. Source: ProtInc glycerol-3-phosphate dehydrogenase activity Traceable author statement. Source: ProtInc
Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: P43304-1)

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.

Isoform 2 (identifier: P43304-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-126: Missing.

Note: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Transit peptide	1 – 42	42	Mitochondrion By similarity
	Chain	43 – 727	685	Glycerol-3-phosphate dehydrogenase, mitochondrial		PRO_0000010429
Regions
	Domain	623 – 658	36	EF-hand 1
	Domain	659 – 694	36	EF-hand 2
	Nucleotide binding	71 – 99	29	FAD Potential
	Calcium binding	672 – 683	12	Potential
Amino acid modifications
	Modified residue	600	1	Phosphotyrosine By similarity
	Modified residue	601	1	Phosphotyrosine By similarity
Natural variations
	Alternative sequence	1 – 126	126	Missing in isoform 2.		VSP_017134
	Natural variant	264	1	R → H: dbSNP rs2116665. Ref.1 Ref.2 Ref.3 Ref.4 Ref.5 Ref.6 Ref.8		VAR_049113
	Natural variant	453	1	K → Q: dbSNP rs35096779.		VAR_049114
	Natural variant	525	1	R → H: dbSNP rs1051916. Ref.1 Ref.4		VAR_025215

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified May 5, 2009. Version 3. Checksum: 70D8B4E5CB4F2EFD	FASTA	727	80,853
	10 20 30 40 50 60 MAFQKAVKGT ILVGGGALAT VLGLSQFAHY RRKQMNLAYV KAADCISEPV NREPPSREAQ 70 80 90 100 110 120 LLTLQNTSEF DILVIGGGAT GSGCALDAVT RGLKTALVER DDFSSGTSSR STKLIHGGVR 130 140 150 160 170 180 YLQKAIMKLD IEQYRMVKEA LHERANLLEI APHLSAPLPI MLPVYKWWQL PYYWVGIKLY 190 200 210 220 230 240 DLVAGSNCLK SSYVLSKSRA LEHFPMLQKD KLVGAIVYYD GQHNDARMNL AIALTAARYG 250 260 270 280 290 300 AATANYMEVV SLLKKTDPQT GKVRVSGARC KDVLTGQEFD VRAKCVINAT GPFTDSVRKM 310 320 330 340 350 360 DDKDAAAICQ PSAGVHIVMP GYYSPESMGL LDPATSDGRV IFFLPWQKMT IAGTTDTPTD 370 380 390 400 410 420 VTHHPIPSEE DINFILNEVR NYLSCDVEVR RGDVLAAWSG IRPLVTDPKS ADTQSISRNH 430 440 450 460 470 480 VVDISESGLI TIAGGKWTTY RSMAEDTINA AVKTHNLKAG PSRTVGLFLQ GGKDWSPTLY 490 500 510 520 530 540 IRLVQDYGLE SEVAQHLAAT YGDKAFEVAK MASVTGKRWP IVGVRLVSEF PYIEAEVKYG 550 560 570 580 590 600 IKEYACTAVD MISRRTRLAF LNVQAAEEAL PRIVELMGRE LNWDDYKKQE QLETARKFLY 610 620 630 640 650 660 YEMGYKSRSE QLTDRSEISL LPSDIDRYKK RFHKFDADQK GFITIVDVQR VLESINVQMD 670 680 690 700 710 720 ENTLHEILNE VDLNKNGQVE LNEFLQLMSA IQKGRVSGSR LAILMKTAEE NLDRRVPIPV DRSCGGL
	Isoform 2. Checksum: 1953A7AC32B5DF02	FASTA	601	67,531
	10 20 30 40 50 60 MKLDIEQYRM VKEALHERAN LLEIAPHLSA PLPIMLPVYK WWQLPYYWVG IKLYDLVAGS 70 80 90 100 110 120 NCLKSSYVLS KSRALEHFPM LQKDKLVGAI VYYDGQHNDA RMNLAIALTA ARYGAATANY 130 140 150 160 170 180 MEVVSLLKKT DPQTGKVRVS GARCKDVLTG QEFDVRAKCV INATGPFTDS VRKMDDKDAA 190 200 210 220 230 240 AICQPSAGVH IVMPGYYSPE SMGLLDPATS DGRVIFFLPW QKMTIAGTTD TPTDVTHHPI 250 260 270 280 290 300 PSEEDINFIL NEVRNYLSCD VEVRRGDVLA AWSGIRPLVT DPKSADTQSI SRNHVVDISE 310 320 330 340 350 360 SGLITIAGGK WTTYRSMAED TINAAVKTHN LKAGPSRTVG LFLQGGKDWS PTLYIRLVQD 370 380 390 400 410 420 YGLESEVAQH LAATYGDKAF EVAKMASVTG KRWPIVGVRL VSEFPYIEAE VKYGIKEYAC 430 440 450 460 470 480 TAVDMISRRT RLAFLNVQAA EEALPRIVEL MGRELNWDDY KKQEQLETAR KFLYYEMGYK 490 500 510 520 530 540 SRSEQLTDRS EISLLPSDID RYKKRFHKFD ADQKGFITIV DVQRVLESIN VQMDENTLHE 550 560 570 580 590 600 ILNEVDLNKN GQVELNEFLQ LMSAIQKGRV SGSRLAILMK TAEENLDRRV PIPVDRSCGG L

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"The sequence of a human mitochondrial glycerol-3-phosphate dehydrogenase-encoding cDNA." Lehn D.A., Brown L.J., Simonson G.D., Moran S.M., McDonald M.J. Gene 150:417-418(1994) [PubMed: 7821823] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANTS HIS-264 AND HIS-525.
[2]	"Mitochondrial glycerol-3-phosphate dehydrogenase. Cloning of an alternatively spliced human islet-cell cDNA, tissue distribution, physical mapping, and identification of a polymorphic genetic marker." Ferrer J., Aoki M., Behn P., Nestorowicz A., Riggs A., Permutt M.A. Diabetes 45:262-266(1996) [PubMed: 8549872] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT HIS-264.
[3]	"Structural organization and mapping of the human mitochondrial glycerol phosphate dehydrogenase-encoding gene and pseudogene." Brown L.J., Stoffel M., Moran S.M., Fernald A.A., Lehn D.A., LeBeau M.M., MacDonald M.J. Gene 172:309-312(1996) [PubMed: 8682323] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT HIS-264.
[4]	"A novel glycerol-3-phosphate dehydrogenase 3 from adult testis." Yin L.L., Li J.M., Sha J.H. Submitted (OCT-2000) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), VARIANTS HIS-264 AND HIS-525. Tissue: Testis.
[5]	"Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S. Nat. Genet. 36:40-45(2004) [PubMed: 14702039] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), VARIANT HIS-264. Tissue: Testis.
[6]	Totoki Y., Toyoda A., Takeda T., Sakaki Y., Tanaka A., Yokoyama S., Ohara O., Nagase T., Kikuno R.F. Submitted (MAR-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT HIS-264. Tissue: Brain.
[7]	"Generation and annotation of the DNA sequences of human chromosomes 2 and 4." Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H. , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K. Nature 434:724-731(2005) [PubMed: 15815621] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[8]	"Large-scale concatenation cDNA sequencing." Yu W., Andersson B., Worley K.C., Muzny D.M., Ding Y., Liu W., Ricafrente J.Y., Wentland M.A., Lennon G., Gibbs R.A. Genome Res. 7:353-358(1997) [PubMed: 9110174] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-408, VARIANT HIS-264. Tissue: Brain.
[9]	Lubec G., Afjehi-Sadat L. Submitted (MAR-2007) to UniProtKB Cited for: PROTEIN SEQUENCE OF 212-227 AND 558-572, MASS SPECTROMETRY. Tissue: Brain and Cajal-Retzius cell.
[10]	Bienvenut W.V., Claeys D. Submitted (JAN-2006) to UniProtKB Cited for: PROTEIN SEQUENCE OF 340-348; 410-418; 526-538; 558-572 AND 715-722, MASS SPECTROMETRY. Tissue: Platelet.
[11]	Colinge J., Superti-Furga G., Bennett K.L. Submitted (OCT-2008) to UniProtKB Cited for: IDENTIFICATION [LARGE SCALE ANALYSIS], MASS SPECTROMETRY.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBLGenBankDDBJ	U12424 mRNA. Translation: AAA65701.1. U36310 mRNA. Translation: AAB60403.1. U40367 , U40353, U40354, U40355, U40357, U40358, U40359, U40360, U40361, U40362, U40363, U40364, U40365 Genomic DNA. Translation: AAC50556.1. AF311325 mRNA. Translation: AAG33851.1. AK093198 mRNA. Translation: BAG52671.1. AB209399 mRNA. Translation: BAD92636.1. Different initiation. AC011308 Genomic DNA. No translation available. AC092686 Genomic DNA. No translation available. U79250 mRNA. Translation: AAB50200.1.
IPI	IPI00017895. IPI00719611.
PIR	G02093.
RefSeq	NP_000399.2. NP_001076581.1.
UniGene	Hs.512382
3D structure databases
HSSP	HSSP built from PDB template 1CTR based on UniProtKB P02593.
ModBase	Search...
PTM databases
PhosphoSite	P43304.
2-D gel databases
REPRODUCTION-2DPAGE	IPI00017895.
Proteomic databases
PRIDE	P43304.
Genome annotation databases
Ensembl	ENSG00000115159. Homo sapiens. [Contig view]
GeneID	2820.
KEGG	hsa:2820.
UCSC	uc002tzd.2. human.
Organism-specific databases
GeneCards	GC02P156988.
HGNC	HGNC:4456. GPD2.
HPA	HPA008012.
MIM	138430. gene.
PharmGKB	PA28837.
GenAtlas	Search...
Phylogenomic databases
HOGENOM	P43304.
HOVERGEN	P43304.
Enzyme and pathway databases
BRENDA	1.1.99.5. 247.
Reactome	REACT_602. Metabolism of lipids and lipoproteins.
Gene expression databases
ArrayExpress	P43304.
Bgee	P43304.
CleanEx	HS_GPD2.
GermOnline	ENSG00000115159. Homo sapiens.
Family and domain databases
InterPro	IPR011992. EF-Hand_type. IPR018248. EF_hand. IPR018247. EF_HAND_1. IPR018249. EF_HAND_2. IPR002048. EF_hand_Ca_bd. IPR000447. FAD-dep_Gly3P_DH. IPR006076. FAD-dep_OxRdtase. [Graphical view]
Gene3D	G3DSA:1.10.238.10. EF-Hand_type. 1 hit.
Pfam	PF01266. DAO. 1 hit. PF00036. efhand. 1 hit. [Graphical view]
PRINTS	PR01001. FADG3PDH.
ProDom	PD000012. EF-hand. 1 hit. [Graphical view] [Entries sharing at least one domain]
SMART	SM00054. EFh. 2 hits. [Graphical view]
PROSITE	PS00018. EF_HAND_1. 1 hit. PS50222. EF_HAND_2. 2 hits. PS00977. FAD_G3PDH_1. 1 hit. PS00978. FAD_G3PDH_2. 1 hit. [Graphical view]
ProtoNet	Search...
Other Resources
NextBio	11111.
SOURCE	Search...

Entry information

Entry name

GPDM_HUMAN

Accession

Primary (citable) accession number: P43304
Secondary accession number(s): B3KSA9, Q59FR1, Q9HAP9

Entry history

Integrated into UniProtKB/Swiss-Prot:	November 1, 1995
Last sequence update:	May 5, 2009
Last modified:	July 7, 2009
This is version 91 of the entry and version 3 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)