Reactome | HSD17B10 [mitochondrial matrix]

HSD17B10 [mitochondrial matrix]

Stable Identifier

R-HSA-70831

Type

Protein [EntityWithAccessionedSequence]

Species

Homo sapiens

Compartment

mitochondrial matrix

Synonyms

2-methyl-3-hydroxybutyryl-CoA dehydrogenase, HADH2, 3-hydroxyacyl-CoA dehydrogenase type II, endoplasmic reticulum-associated amyloid beta-peptide binding protein, 3-hydroxyacyl-CoA dehydrogenase type II , Endoplasmic reticulum-associated amyloid beta-peptide binding protein

Locations in the PathwayBrowser

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Literature References

PubMed ID	Title	Journal	Year
12696021	2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency is caused by mutations in the HADH2 gene. Sass, JO, Duran, M, Sperl, W, Lehnert, W, Zschocke, J, Ensenauer, R, Ruiter, JP, Feenstra, M, Poll-The, BT, Ofman, R	Am J Hum Genet	2003

External Reference Information

External Reference

UniProt:Q99714 HSD17B10

Gene Names

HSD17B10, ERAB, HADH2, MRPP2, SCHAD, SDR5C1, XH98G2

Chain

initiator methionine:, chain:2-261

Reference Genes

BioGPS Gene:3028 HSD17B10

COSMIC (genes):HSD17B10 HSD17B10

CTD Gene:3028 HSD17B10

dbSNP Gene:3028 HSD17B10

ENSEMBL:ENSG00000072506 HSD17B10

ENSEMBL_homo_sapiens_GENE:ENSG00000072506.14 HSD17B10

HGNC:4800 HSD17B10

KEGG Gene (Homo sapiens):3028 HSD17B10

Monarch:3028 HSD17B10

NCBI Gene:3028 HSD17B10

OMIM:300256 HSD17B10

UCSC:Q99714 HSD17B10

Reference Transcript

Other Identifiers

11717515_a_at

17111251

202282_PM_at

202282_at

3028

4009289

4009290

4009291

4009293

4009294

4009296

4009298

4009299

4009301

40778_at

8172905

A_23_P45396

GE79380

GO:0000049

GO:0003723

GO:0003824

GO:0003857

GO:0004303

GO:0005515

GO:0005737

GO:0005739

GO:0005759

GO:0005886

GO:0006399

GO:0006520

GO:0006550

GO:0006629

GO:0006631

GO:0006635

GO:0006699

GO:0007005

GO:0008033

GO:0008202

GO:0008207

GO:0008209

GO:0008210

GO:0008709

GO:0016491

GO:0030283

GO:0030678

GO:0042645

GO:0043226

GO:0043527

GO:0044594

GO:0047015

GO:0047035

GO:0047044

GO:0051289

GO:0062173

GO:0065003

GO:0070901

GO:0097745

GO:0106281

GO:0106282

GO:0106283

GO:0140053

GO:1990180

HMNXSV003056176

ILMN_1691926

ILMN_2355971

PH_hs_0010252

PH_hs_0031984

TC0X001065.hg

U73514_at

g4758503_3p_at

Participates

as a component of

as a member of

Substrate of LONP1 (mitochondrial matrix) [mitochondrial matrix] (Homo sapiens)

Inferred To

hsd17b10 [mitochondrial matrix] (Xenopus tropicalis)

ard-1 [mitochondrial matrix] (Caenorhabditis elegans)

hadh2 [mitochondrial matrix] (Danio rerio)

HSD17B10 [mitochondrial matrix] (Bos taurus)

HSD17B10 [mitochondrial matrix] (Canis familiaris)

HSD17B10 [mitochondrial matrix] (Dictyostelium discoideum)

HSD17B10 [mitochondrial matrix] (Drosophila melanogaster)

HSD17B10 [mitochondrial matrix] (Gallus gallus)

HSD17B10 [mitochondrial matrix] (Mus musculus)

HSD17B10 [mitochondrial matrix] (Rattus norvegicus)

HSD17B10 [mitochondrial matrix] (Sus scrofa)

Cross References

RefSeq

NP_004484.1, NP_001032900.1

OpenTargets

ENSG00000072506

IntEnz

1.1.1.62

GeneCards

Q99714

HPA

ENSG00000072506-HSD17B10

Ensembl

ENSP00000364453, ENST00000375304, ENST00000168216, ENSG00000072506, ENSP00000168216

PRO

Q99714

Pharos - Targets

Q99714

Orphanet

16223

HMDB Protein

HMDBP00379

PDB

7ONU, 1U7T, 2O23, 1SO8

Interactors (3)

Accession	#Entities	Entities	Confidence Score	Evidence (IntAct)
UniProt:P05067 APP	20	APP(18-770) [trans-Golgi network membrane] (R-HSA-5229136) APP-C99 [cytosol] (R-HSA-9617603) APP(18-770) [extracellular region] (R-HSA-49335) APP(18-770) [platelet alpha granule lumen] (R-HSA-139835) APP(18-687) [extracellular region] (R-HSA-9010033) APP(688-770) [plasma membrane] (R-HSA-9010028) APP(18-770) [Golgi lumen] (R-HSA-8871509) APP(18-770) [plasma membrane] (R-HSA-9010038) APP(18-671) [endosome lumen] (R-HSA-5693003) APP(714-770) [endosome lumen] (R-HSA-6783325) APP(712-770) [endosome lumen] (R-HSA-6783331) APP(672-770) [endosome lumen] (R-HSA-9010082) APP(672-713) [endosome lumen] (R-HSA-5692993) APP(672-711) [endosome lumen] (R-HSA-6783333) APP(18-770) [endosome lumen] (R-HSA-5229077) p-APP [endoplasmic reticulum lumen] (R-HSA-8957012) APP [endoplasmic reticulum lumen] (R-HSA-8956696) APP(672-711) [extracellular region] (R-HSA-976740) APP(672-711) [cytosol] (R-HSA-877188) APP(672-713) [extracellular region] (R-HSA-879340)	0.747	7
UniProt:Q12931 TRAP1	1	TRAP1 [mitochondrial matrix] (R-HSA-8874494)	0.499	3
UniProt:P13639 EEF2	10	EEF2 [ficolin-1-rich granule lumen] (R-HSA-6801513) EEF2 [extracellular region] (R-HSA-6806499) EEF2 [secretory granule lumen] (R-HSA-6801504) EEF2 [cytosol] (R-HSA-156901) aminocarboxypropyl EEF2 [cytosol] (R-HSA-5358478) Me-diphthine EEF2 [cytosol] (R-HSA-5367025) nascent EEF2 [cytosol] (R-HSA-5358472) diphthine EEF2 [cytosol] (R-HSA-5358501) ADP-ribo-EEF2 [cytosol] (R-HSA-5334764) Me3K525-EEF2 [cytosol] (R-HSA-8932237)	0.499	3

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