Reactome | LRAT S175R [endoplasmic reticulum membrane]

LRAT S175R [endoplasmic reticulum membrane]

Stable Identifier

R-HSA-2466799

Type

Protein [EntityWithAccessionedSequence]

Species

Homo sapiens

Compartment

endoplasmic reticulum membrane

Synonyms

Lecithin retinol acyltransferase

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External Reference Information

External Reference

UniProt:O95237 LRAT

Gene Names

LRAT

Chain

chain:1-230

Reference Genes

BioGPS Gene:9227 LRAT

COSMIC (genes):LRAT LRAT

CTD Gene:9227 LRAT

dbSNP Gene:9227 LRAT

ENSEMBL:ENSG00000121207 LRAT

HGNC:6685 LRAT

KEGG:hsa:9227 LRAT

Monarch:9227 LRAT

NCBI Gene:9227 LRAT

OMIM:604863 LRAT

UCSC:O95237 LRAT

Reference Transcript

Other Identifiers

11738044_a_at

11738045_a_at

11738046_a_at

220317_PM_at

220317_at

2748590

2748591

2748596

2748602

2748603

2748604

2748607

2748613

2748618

2748627

2748628

2748629

2748630

2748631

2748632

2748633

2748634

2748635

2748636

2748637

2748638

2748639

2748640

2748641

2748642

2748643

8097920

9227

A_14_P100245

A_23_P167182

A_24_P260325

A_32_P113066

GO:0001523

GO:0001972

GO:0003824

GO:0005515

GO:0005737

GO:0005768

GO:0005771

GO:0005783

GO:0005789

GO:0005791

GO:0006629

GO:0006766

GO:0006776

GO:0007601

GO:0008289

GO:0008374

GO:0009617

GO:0016020

GO:0016416

GO:0016740

GO:0016746

GO:0019841

GO:0031410

GO:0032370

GO:0032526

GO:0033189

GO:0042572

GO:0043226

GO:0047173

GO:0048471

GO:0050877

GO:1990830

HMNXSV003000746

ILMN_1673491

PH_hs_0022650

TC04002280.hg

g4758683_3p_at

p26271

Other forms of this molecule

LRAT [endoplasmic reticulum membrane]

Modified Residues

Name

L-serine 175 replaced with L-arginine

Coordinate

175

PsiMod

L-serine removal [MOD:01646]

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

L-arginine residue [MOD:00011]

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

Disease

Name	Identifier	Synonyms
Leber congenital amaurosis	DOID:14791	Leber's disease, Leber's congenital amaurosis, AMAUROSIS CONGENITA OF LEBER I, Leber's disease, Leber's amaurosis (disorder)

Cross References

ENSEMBL

ENSG00000121207, ENSP00000337224, ENST00000336356, ENST00000507827, ENSP00000426761

OpenTargets

ENSG00000121207

GeneCards

LRAT

HPA

ENSG00000121207-LRAT

ZINC - Substances

LRAT_HUMAN

ZINC target

O95237

PRO

O95237

Pharos - Targets

O95237

Orphanet

LRAT

HMDB Protein

HMDBP01912

Interactors (5)

Accession	#Entities	Entities	Confidence Score	Evidence (IntAct)
UniProt:O60361 NME2P1	1	NME2P1 [cytosol] (R-HSA-6806876)	0.589	2
IntAct:EBI-22326698 CCSB ORF ID			0.556	3
UniProt:P62952 BLCAP			0.556	3
UniProt:Q9Y320 TMX2			0.556	3
UniProt:Q7Z5P4 HSD17B13	1	HSD17B13 [cytosol] (R-HSA-8862029)	0.556	3

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