Reactome | UniProt:P07902 GALT

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UniProt:P07902 GALT Show undefined attributes

chain	chain:1-379
checksum	99945FF99C4F0066
comment	FUNCTION Plays an important role in galactose metabolism.CATALYTIC ACTIVITY alpha-D-galactose 1-phosphate + UDP-alpha-D-glucose = alpha-D-glucose 1-phosphate + UDP-alpha-D-galactoseCOFACTOR Binds 2 zinc ions per subunit.BIOPHYSICOCHEMICAL PROPERTIES Carbohydrate metabolism; galactose metabolism.SUBUNIT Homodimer.INTERACTION The disease is caused by variants affecting the gene represented in this entry.SIMILARITY Belongs to the galactose-1-phosphate uridylyltransferase type 1 family.
crossReference	[DatabaseIdentifier:12436398] RefSeq:NP_001245261.1 [DatabaseIdentifier:12436397] RefSeq:NP_000146.2 [DatabaseIdentifier:12294554] Pharos - Targets:P07902 [DatabaseIdentifier:12256958] PRO:P07902 [DatabaseIdentifier:12234723] PDB:6GQD [DatabaseIdentifier:12234722] PDB:5IN3 [DatabaseIdentifier:12137790] Orphanet:GALT [DatabaseIdentifier:12134391] OpenTargets:ENSG00000213930 [DatabaseIdentifier:11849692] HPA:ENSG00000213930-GALT [DatabaseIdentifier:11833934] HMDB Protein:HMDBP01092 [DatabaseIdentifier:11796728] GeneCards:GALT [DatabaseIdentifier:11737924] ENSEMBL:ENST00000450095 [DatabaseIdentifier:11737925] ENSEMBL:ENST00000378842 [DatabaseIdentifier:11615226] ENSEMBL:ENSP00000401956 [DatabaseIdentifier:11615225] ENSEMBL:ENSP00000368119 [DatabaseIdentifier:11503591] ENSEMBL:ENSG00000213930
databaseName	UniProt
dbId	55296
description	recommendedName: Galactose-1-phosphate uridylyltransferase shortName: Gal-1-P uridylyltransferase ecNumber evidence="17 21"2.7.7.12 alternativeName: UDP-glucose--hexose-1-phosphate uridylyltransferase
displayName	UniProt:P07902 GALT
geneName	GALT
identifier	P07902
isSequenceChanged	false
keyword	3D-structure Alternative splicing Carbohydrate metabolism Cataract Disease variant Galactose metabolism Metal-binding Nucleotidyltransferase Proteomics identification Reference proteome Transferase Zinc
modified	[InstanceEdit:9926675] Weiser, Joel, 2024-11-03
moleculeType	Protein
name	GALT
otherIdentifier	11753952_a_at 17084493 203179_PM_at 203179_at 232708_PM_at 232708_at 242734_3p_x_at 242734_PM_x_at 242734_x_at 2592 3167512 3167513 3167515 3167516 3167517 3167518 3167519 3167520 3167521 3167522 3167523 3167524 3167525 3167526 3167527 3167528 3167529 3167530 3167531 3167532 3167533 3167534 3167535 3167536 3167537 3167538 3167539 3167540 3167541 3167542 3167543 3167544 3167545 3167546 3167547 3167548 3167549 3167554 3167555 3167580 36664_at 8154916 89718_at A_14_P100216 A_23_P502035 A_24_P12865 A_32_P65934 A_33_P3220415 GE57998 GO:0005515 GO:0005737 GO:0005794 GO:0005829 GO:0005975 GO:0006011 GO:0006012 GO:0006796 GO:0008108 GO:0008270 GO:0016740 GO:0016779 GO:0019637 GO:0033499 GO:0046872 GO:0055086 GO:1901135 HMNXSV003012136 HMNXSV003020083 Hs.222102.0.A1_3p_at Hs.222102.0.A1_3p_x_at Hs.75641.1.S1_3p_at ILMN_1657475 ILMN_1697760 ILMN_1706005 M60091_at PH_hs_0004355 TC09002896.hg g4557614_3p_at
physicalEntity	[EntityWithAccessionedSequence:R-HSA-5610008] GALT Q188R [cytosol] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-5610009] GALT K285N [cytosol] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-5610004] GALT S135L [cytosol] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-70356] GALT [cytosol] - Homo sapiens
referenceDatabase	[ReferenceDatabase:2] UniProt
referenceGene	[ReferenceDNASequence:12704656] UCSC:P07902 GALT [ReferenceDNASequence:12118573] OMIM:606999 GALT [ReferenceDNASequence:12083113] NCBI Gene:2592 GALT [ReferenceDNASequence:11999020] Monarch:2592 GALT [ReferenceDNASequence:11907443] KEGG:hsa:2592 GALT [ReferenceDNASequence:11828438] HGNC:4135 GALT [ReferenceDNASequence:11431081] dbSNP Gene:2592 GALT [ReferenceDNASequence:11426017] CTD Gene:2592 GALT [ReferenceDNASequence:11394925] COSMIC - genes:GALT GALT [ReferenceDNASequence:11369231] BioGPS Gene:2592 GALT [ReferenceDNASequence:ensembl:ENSG00000213930] ENSEMBL:ENSG00000213930 GALT
referenceTranscript	[ReferenceRNASequence:12617914] RefSeq:NM_000155.3 GALT [ReferenceRNASequence:12617913] RefSeq:NM_001258332.2 GALT
schemaClass	ReferenceGeneProduct
secondaryIdentifier	GALT_HUMAN B4E097 E7ET32 Q14355 Q14356 Q14357 Q14358 Q14359 Q14360 Q14361 Q14363 Q14364 Q14365 Q14369 Q14370 Q14371 Q14372 Q14373 Q14374 Q14375 Q14377 Q14378 Q14380 Q14381 Q14382 Q14383 Q14384 Q14385 Q14386 Q14387 Q14389 Q16766 Q53XK1 Q5VZ81 Q96BY1
sequenceLength	379
species	[Species:48887] Homo sapiens
stId	uniprot:P07902
url	http://purl.uniprot.org/uniprot/P07902

Referrals

(interactor)	[UndirectedInteraction:11136733] UniProt:P07902 <-> UniProt:Q96F24 (IntAct) [UndirectedInteraction:11136731] UniProt:P07902 <-> UniProt:O15145 (IntAct) [UndirectedInteraction:11136729] UniProt:P07902 <-> UniProt:Q3LI66 (IntAct) [UndirectedInteraction:11136727] UniProt:P07902 <-> UniProt:Q9HAV7 (IntAct) [UndirectedInteraction:11136725] UniProt:P07902 <-> UniProt:Q07912-2 (IntAct) [UndirectedInteraction:11136721] UniProt:P07902 <-> UniProt:Q07912 (IntAct) [UndirectedInteraction:11136719] UniProt:P07902 <-> UniProt:P15559 (IntAct) [UndirectedInteraction:11136717] UniProt:P07902 <-> UniProt:Q15645 (IntAct) [UndirectedInteraction:11136713] UniProt:P07902 <-> UniProt:Q8WUN7 (IntAct)
(referenceEntity)	[EntityWithAccessionedSequence:R-HSA-5610008] GALT Q188R [cytosol] [EntityWithAccessionedSequence:R-HSA-5610009] GALT K285N [cytosol] [EntityWithAccessionedSequence:R-HSA-5610004] GALT S135L [cytosol] [EntityWithAccessionedSequence:R-HSA-70356] GALT [cytosol]
(referenceSequence)	[ReplacedResidue:5609991] L-glutamine 188 replaced with L-arginine [ReplacedResidue:5609995] L-lysine 285 replaced with L-asparagine [ReplacedResidue:5609987] L-serine 135 replaced with L-leucine

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