Reactome | DHDDS K42E [endoplasmic reticulum membrane]

DHDDS K42E [endoplasmic reticulum membrane]

Stable Identifier

R-HSA-4755568

Type

Protein [EntityWithAccessionedSequence]

Species

Homo sapiens

Compartment

endoplasmic reticulum membrane

Synonyms

Dehydrodolichyl diphosphate synthase, DHDDS_HUMAN

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External Reference Information

External Reference

UniProt:Q86SQ9 DHDDS

Gene Names

DHDDS, HDS

Chain

chain:1-333

Reference Genes

BioGPS Gene:79947 DHDDS

COSMIC (genes):DHDDS DHDDS

CTD Gene:79947 DHDDS

dbSNP Gene:79947 DHDDS

ENSEMBL:ENSG00000117682 DHDDS

ENSEMBL_homo_sapiens_GENE:ENSG00000117682.18 DHDDS

HGNC:20603 DHDDS

KEGG Gene (Homo sapiens):79947 DHDDS

Monarch:79947 DHDDS

NCBI Gene:79947 DHDDS

OMIM:608172 DHDDS

UCSC:Q86SQ9 DHDDS

Reference Transcript

Other Identifiers

11736216_a_at

11746184_a_at

16661164

218547_PM_at

218547_at

224064_PM_s_at

224064_s_at

2326497

2326498

2326501

2326502

2326504

2326507

2326510

2326513

2326517

2326519

2326522

2326523

2326532

2326533

2326534

2326535

2326536

2326537

2326538

75091_at

76594_at

7899173

7899187

79947

87484_at

A_14_P139782

A_23_P201764

A_24_P179769

A_33_P3340792

GE82984

GE88684

GO:0002094

GO:0003824

GO:0005515

GO:0005783

GO:0005789

GO:0006486

GO:0006489

GO:0006629

GO:0016020

GO:0016094

GO:0016740

GO:0016765

GO:0036211

GO:0043226

GO:0045547

GO:0046872

GO:1901135

GO:1904423

HMNXSV003023537

HMNXSV003051225

ILMN_1776879

ILMN_1789535

ILMN_2405642

PH_hs_0024103

TC01000344.hg

g13278671_3p_a_at

g13376336_3p_at

Participates

as a component of

DHDDS K42E:NUS1 [endoplasmic reticulum membrane] (Homo sapiens)

Other forms of this molecule

DHDDS [endoplasmic reticulum membrane]

Modified Residues

Name

L-lysine 42 replaced with L-glutamic acid

Coordinate

PsiMod

L-glutamic acid residue [MOD:00015]

A protein modification that effectively converts a source amino acid residue to an L-glutamic acid.

L-lysine removal [MOD:01642]

A protein modification that effectively removes or replaces an L-lysine.

Disease

Name	Identifier	Synonyms
retinitis pigmentosa	DOID:10584	RP, Retinitis pigmentosa (disorder), retinitis pigmentosa-1, Retinitis pigmentosa, Retinitis pigmentosa

Cross References

RefSeq

NP_079163.2, NP_001230493.1, XP_016857869.1, XP_006710976.1, XP_016857868.1, NP_001230494.1, XP_006710975.1, XP_011540488.1, XP_011540485.1, XP_006710977.1, NP_995583.1, XP_011540486.1

OpenTargets

ENSG00000117682

IntEnz

2.5.1.87

GeneCards

Q86SQ9

HPA

ENSG00000117682-DHDDS

Ensembl

ENSP00000515248, ENSP00000434219, ENSG00000117682, ENST00000525682, ENST00000526219, ENST00000236342, ENSP00000236342, ENST00000528557, ENSP00000353104, ENST00000360009, ENSP00000434984

PRO

Q86SQ9

Pharos - Targets

Q86SQ9

Orphanet

19828

HMDB Protein

HMDBP09221

PDB

7PAX, 6W2L, 7PB0, 6Z1N, 7PAY, 7PB1