P07902 (GALT_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Galactose-1-phosphate uridylyltransferase
Short name=Gal-1-P uridylyltransferase
EC=2.7.7.12

Alternative name(s):
UDP-glucose--hexose-1-phosphate uridylyltransferase

Gene names

Name:

GALT

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	379 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Catalytic activity	UDP-alpha-D-glucose + alpha-D-galactose 1-phosphate = alpha-D-glucose 1-phosphate + UDP-alpha-D-galactose.
Cofactor	Binds 1 iron ion per subunit Potential. Binds 1 zinc ion per subunit Potential.
Pathway	Carbohydrate metabolism; galactose metabolism.
Subunit structure	Homodimer Probable.
Involvement in disease	Galactosemia (GALCT) [MIM:230400]: Inherited disorder of galactose metabolism that causes jaundice, cataracts, and mental retardation. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.3 Ref.11 Ref.12 Ref.13 Ref.15 Ref.16 Ref.17 Ref.19 Ref.20 Ref.21 Ref.22 Ref.23 Ref.24 Ref.25 Ref.26 Ref.27 Ref.28 Ref.29 Ref.30 Ref.31 Ref.32 Ref.33 Ref.34
Sequence similarities	Belongs to the galactose-1-phosphate uridylyltransferase type 1 family.
Biophysicochemical properties	Kinetic parameters: KM=1.25 mM for alpha-D-galactose 1-phosphate (at pH 8.7) Ref.11 KM=0.43 mM for UDP-glucose (at pH 8.7) Vmax=48 µmol/min/mg enzyme

Ontologies

Keywords
Biological process	Carbohydrate metabolism Galactose metabolism
Coding sequence diversity	Alternative splicing Polymorphism
Disease	Cataract Disease mutation
Ligand	Iron Metal-binding Zinc
Molecular function	Nucleotidyltransferase Transferase
Technical term	3D-structure Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	UDP-glucose catabolic process Inferred from electronic annotation. Source: Compara galactose catabolic process Traceable author statement. Source: Reactome small molecule metabolic process Traceable author statement. Source: Reactome
Cellular_component	Golgi apparatus Inferred from direct assay PubMed 20605918. Source: UniProtKB cytosol Traceable author statement. Source: Reactome
Molecular_function	UDP-glucose:hexose-1-phosphate uridylyltransferase activity Inferred from electronic annotation. Source: EC zinc ion binding Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Alternative products

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

Isoform 1 (identifier: P07902-1)

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: P07902-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-17: MSRSGTDPQQRQQASEA → MTLSTLCVLGPSEPTES
     18-126: Missing.

Note: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 379	379	Galactose-1-phosphate uridylyltransferase		PRO_0000169882
Sites
	Active site	186	1	Tele-UMP-histidine intermediate By similarity
	Metal binding	75	1	Zinc Potential
	Metal binding	184	1	Zinc Potential
	Metal binding	202	1	Iron Potential
	Metal binding	301	1	Iron Potential
	Metal binding	319	1	Iron Potential
	Metal binding	321	1	Iron Potential
Natural variations
	Alternative sequence	1 – 17	17	MSRSG…QASEA → MTLSTLCVLGPSEPTES in isoform 2.		VSP_045604
	Alternative sequence	18 – 126	109	Missing in isoform 2.		VSP_045605
	Natural variant	9	1	Q → H in GALCT. Ref.29		VAR_068531
	Natural variant	23	1	T → A in GALCT. Ref.28		VAR_068532
	Natural variant	28	1	D → H in GALCT. Ref.31		VAR_068533
	Natural variant	28	1	D → Y in GALCT. Ref.26		VAR_002548
	Natural variant	32	1	I → N in GALCT; mild. Ref.26		VAR_002549
	Natural variant	33	1	R → H in GALCT. Ref.31		VAR_068534
	Natural variant	34	1	Y → N in GALCT; affects protein stability. Ref.11		VAR_068535
	Natural variant	38	1	Q → P in GALCT. Ref.26		VAR_002550
	Natural variant	44	1	V → L in GALCT.		VAR_002551
	Natural variant	44	1	V → M in GALCT; reduced enzyme activity. Ref.13		VAR_002552
	Natural variant	45	1	S → L in GALCT.		VAR_008042
	Natural variant	51	1	R → L in GALCT.		VAR_002553
	Natural variant	51	1	R → Q in GALCT. Ref.30		VAR_023328
	Natural variant	55	1	G → C in GALCT. Ref.23		VAR_002554
	Natural variant	62	1	L → M. Ref.13 Corresponds to variant rs1800461 [ dbSNP | Ensembl ].		VAR_002555
	Natural variant	67	1	R → C in GALCT. Ref.21		VAR_002556
	Natural variant	74	1	L → P in GALCT; reduced enzyme activity. Ref.15		VAR_002557
	Natural variant	81	1	A → T in GALCT.		VAR_002558
	Natural variant	89	1	Y → H in GALCT. Ref.34		VAR_068824
	Natural variant	97	1	N → S in GALCT.		VAR_002559
	Natural variant	98	1	D → N in GALCT.		VAR_002560
	Natural variant	103	1	Q → R in GALCT. Ref.34		VAR_068825
	Natural variant	112	1	S → R in GALCT. Ref.33		VAR_068536
	Natural variant	113	1	D → N in GALCT.		VAR_002561
	Natural variant	114	1	H → L in GALCT.		VAR_002562
	Natural variant	117	1	F → S in GALCT.		VAR_002563
	Natural variant	118	1	Q → H in GALCT.		VAR_002564
	Natural variant	123	1	R → G in GALCT. Ref.26		VAR_002565
	Natural variant	123	1	R → Q in GALCT.		VAR_002566
	Natural variant	125	1	V → A in GALCT.		VAR_002567
	Natural variant	127	1	K → E in GALCT.		VAR_002568
	Natural variant	129	1	M → T in GALCT. Ref.29		VAR_008043
	Natural variant	130	1	C → Y in GALCT.		VAR_002569
	Natural variant	132	1	H → Q in GALCT; affects protein stability. Ref.11		VAR_068537
	Natural variant	132	1	H → Y in GALCT.		VAR_002570
	Natural variant	135	1	S → L in GALCT; frequent mutation in African Americans; about 5% of normal activity. Ref.11 Ref.15 Ref.20 Ref.28		VAR_002571
	Natural variant	135	1	S → W in GALCT. Ref.30		VAR_023329
	Natural variant	138	1	T → M in GALCT; mild. Ref.28		VAR_002572
	Natural variant	139	1	L → P in GALCT.		VAR_002573
	Natural variant	142	1	M → K in GALCT; 4% of normal activity. Ref.13 Ref.27		VAR_002574
	Natural variant	142	1	M → V in GALCT.		VAR_002575
	Natural variant	143	1	S → L in GALCT. Ref.26		VAR_002576
	Natural variant	148	1	R → G in GALCT.		VAR_002577
	Natural variant	148	1	R → Q in GALCT.		VAR_002578
	Natural variant	148	1	R → W in GALCT; unstable protein. Ref.16		VAR_002579
	Natural variant	150	1	V → L in GALCT. Ref.24		VAR_002580
	Natural variant	151	1	V → A in GALCT; approximatively 3% of normal activity. Ref.20		VAR_002581
	Natural variant	154	1	W → G in GALCT.		VAR_002582
	Natural variant	166	1	P → A in GALCT. Ref.34		VAR_068826
	Natural variant	167	1	W → R in GALCT.		VAR_008044
	Natural variant	168	1	V → L in GALCT; loss of activty. Ref.11		VAR_068538
	Natural variant	170	1	I → T in GALCT; loss of activty. Ref.11		VAR_068539
	Natural variant	171	1	F → S in GALCT; reduced enzyme activity. Ref.15 Ref.34		VAR_002583
	Natural variant	179	1	G → D in GALCT.		VAR_002584
	Natural variant	181	1	S → A in GALCT. Ref.31		VAR_068540
	Natural variant	181	1	S → F in GALCT. Ref.34		VAR_068827
	Natural variant	183	1	P → T in GALCT. Ref.24 Ref.25		VAR_002585
	Natural variant	184	1	H → Q in GALCT. Ref.28		VAR_002586
	Natural variant	185	1	P → H in GALCT; loss of activty. Ref.11 Ref.32		VAR_068541
	Natural variant	185	1	P → L in GALCT. Ref.34		VAR_068828
	Natural variant	185	1	P → S in GALCT. Ref.31		VAR_068542
	Natural variant	188	1	Q → R in GALCT; most common mutation; accounts for approximately 70% of GALCT alleles tested; 10% of normal activity. Ref.3 Ref.11 Ref.12 Ref.20 Ref.24 Ref.28 Ref.33 Ref.34		VAR_002587
	Natural variant	192	1	S → G in GALCT. Ref.31		VAR_068543
	Natural variant	192	1	S → N in GALCT.		VAR_002588
	Natural variant	194	1	F → L in GALCT.		VAR_002589
	Natural variant	195	1	L → P in GALCT; no enzymatic activity. Ref.16 Ref.28		VAR_002590
	Natural variant	198	1	I → M in GALCT.		VAR_002591
	Natural variant	198	1	I → T in GALCT.		VAR_002592
	Natural variant	199	1	A → T in GALCT.		VAR_002593
	Natural variant	201	1	R → C in GALCT; 2-fold decrease in activity. Ref.11 Ref.32		VAR_068544
	Natural variant	201	1	R → H in GALCT.		VAR_002594
	Natural variant	203	1	E → K in GALCT.		VAR_002595
	Natural variant	204	1	R → P in GALCT.		VAR_008045
	Natural variant	209	1	Y → C in GALCT.		VAR_002596
	Natural variant	209	1	Y → S in GALCT.		VAR_002597
	Natural variant	212	1	Q → H in GALCT.		VAR_002598
	Natural variant	217	1	L → P in GALCT.		VAR_002599
	Natural variant	220	1	E → K in GALCT; 3-fold decrease in activity. Ref.11 Ref.32		VAR_068545
	Natural variant	223	1	R → S in GALCT; 3-fold decrease in activity. Ref.11 Ref.32		VAR_068546
	Natural variant	226	1	L → P in GALCT.		VAR_002600
	Natural variant	227	1	L → P in GALCT; results in no detectable protein in the soluble fraction. Ref.11		VAR_068547
	Natural variant	229	1	K → N in GALCT. Ref.30		VAR_023330
	Natural variant	231	1	R → H in GALCT; 15% of normal activity. Ref.22		VAR_002601
	Natural variant	249	1	W → R in GALCT.		VAR_002602
	Natural variant	251	1	Y → C in GALCT.		VAR_002603
	Natural variant	251	1	Y → S in GALCT. Ref.28		VAR_002604
	Natural variant	252	1	Q → H in GALCT. Ref.30		VAR_023331
	Natural variant	258	1	R → C in GALCT.		VAR_002605
	Natural variant	259	1	R → Q in GALCT; loss of activity. Ref.11		VAR_068548
	Natural variant	259	1	R → W in GALCT; mild.		VAR_002606
	Natural variant	262	1	R → P in GALCT.		VAR_002607
	Natural variant	263	1	Missing in GALCT.		VAR_008046
	Natural variant	265	1	P → A in GALCT. Ref.31		VAR_068549
	Natural variant	272	1	R → G in GALCT.		VAR_008047
	Natural variant	278	1	I → N in GALCT; 18-fold decrease in activity. Ref.11 Ref.32		VAR_068550
	Natural variant	282	1	L → V in GALCT.		VAR_002608
	Natural variant	285	1	K → N in GALCT; severe; 25-40% of the European population. Ref.27 Ref.28		VAR_002609
	Natural variant	285	1	K → R in GALCT. Ref.34		VAR_068829
	Natural variant	289	1	L → F in GALCT; 3-fold decrease in activity. Ref.11 Ref.32		VAR_068551
	Natural variant	289	1	L → R in GALCT.		VAR_002610
	Natural variant	291	1	E → K in GALCT.		VAR_002611
	Natural variant	291	1	E → V in GALCT; 2-fold decrease in activity. Ref.11		VAR_068552
	Natural variant	294	1	F → Y in GALCT. Ref.27		VAR_008048
	Natural variant	308	1	E → K in GALCT.		VAR_002612
	Natural variant	314	1	N → D in Duarte; exists in two different types, D-1 with normal or increased activity and D-2 with an activity reduced to about 35-45% of normal. Ref.4 Ref.8 Ref.13 Ref.22 Ref.28 Ref.33 Ref.34 Corresponds to variant rs2070074 [ dbSNP | Ensembl ].		VAR_002613
	Natural variant	317	1	Q → H in GALCT.		VAR_002614
	Natural variant	317	1	Q → R in GALCT.		VAR_002615
	Natural variant	319	1	H → Q in GALCT. Ref.17 Ref.24 Ref.34		VAR_002616
	Natural variant	320	1	A → T in GALCT. Ref.27		VAR_002617
	Natural variant	323	1	Y → D in GALCT.		VAR_002618
	Natural variant	323	1	Y → H in GALCT.		VAR_002619
	Natural variant	324	1	P → S in GALCT.		VAR_002620
	Natural variant	325	1	P → L in GALCT. Ref.26		VAR_002621
	Natural variant	327	1	L → P in GALCT; results in no detectable protein in the soluble fraction. Ref.11		VAR_068553
	Natural variant	328	1	R → H in GALCT.		VAR_002622
	Natural variant	329	1	S → F in GALCT. Ref.23		VAR_002623
	Natural variant	330	1	A → V in GALCT; mild. Ref.21		VAR_002624
	Natural variant	333	1	R → G in GALCT.		VAR_002625
	Natural variant	333	1	R → L in GALCT. Ref.34		VAR_068830
	Natural variant	333	1	R → Q in GALCT.		VAR_002626
	Natural variant	333	1	R → W in GALCT; no enzymatic activity. Ref.12 Ref.22		VAR_002627
	Natural variant	334	1	K → R in GALCT.		VAR_002628
	Natural variant	336	1	M → L in GALCT.		VAR_002629
	Natural variant	342	1	L → I in GALCT. Ref.29		VAR_068554
	Natural variant	344	1	Q → K in GALCT. Ref.28		VAR_002630
	Natural variant	345	1	A → D in GALCT. Ref.28		VAR_068555
	Natural variant	350	1	T → A in GALCT; mild.		VAR_002631
Experimental info
	Sequence conflict	258 – 259	2	RR → VG in AAC83409. Ref.1
	Sequence conflict	335	1	F → L in BAG64359. Ref.5

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified July 15, 1998. Version 3. Checksum: 99945FF99C4F0066	FASTA	379	43,363
	10 20 30 40 50 60 MSRSGTDPQQ RQQASEADAA AATFRANDHQ HIRYNPLQDE WVLVSAHRMK RPWQGQVEPQ 70 80 90 100 110 120 LLKTVPRHDP LNPLCPGAIR ANGEVNPQYD STFLFDNDFP ALQPDAPSPG PSDHPLFQAK 130 140 150 160 170 180 SARGVCKVMC FHPWSDVTLP LMSVPEIRAV VDAWASVTEE LGAQYPWVQI FENKGAMMGC 190 200 210 220 230 240 SNPHPHCQVW ASSFLPDIAQ REERSQQAYK SQHGEPLLME YSRQELLRKE RLVLTSEHWL 250 260 270 280 290 300 VLVPFWATWP YQTLLLPRRH VRRLPELTPA ERDDLASIMK KLLTKYDNLF ETSFPYSMGW 310 320 330 340 350 360 HGAPTGSEAG ANWNHWQLHA HYYPPLLRSA TVRKFMVGYE MLAQAQRDLT PEQAAERLRA 370 LPEVHYHLGQ KDRETATIA
	Isoform 2 [UniParc]. Checksum: DC1A03FDA8DC06FE	FASTA	270	31,107
	10 20 30 40 50 60 MTLSTLCVLG PSEPTESKVM CFHPWSDVTL PLMSVPEIRA VVDAWASVTE ELGAQYPWVQ 70 80 90 100 110 120 IFENKGAMMG CSNPHPHCQV WASSFLPDIA QREERSQQAY KSQHGEPLLM EYSRQELLRK 130 140 150 160 170 180 ERLVLTSEHW LVLVPFWATW PYQTLLLPRR HVRRLPELTP AERDDLASIM KKLLTKYDNL 190 200 210 220 230 240 FETSFPYSMG WHGAPTGSEA GANWNHWQLH AHYYPPLLRS ATVRKFMVGY EMLAQAQRDL 250 260 270 TPEQAAERLR ALPEVHYHLG QKDRETATIA

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Cloning and characterization of a cDNA encoding human galactose-1-phosphate uridyl transferase." Reichardt J.K.V., Berg P. Mol. Biol. Med. 5:107-122(1988) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1). Tissue: Fibroblast.
[2]	"Sequence of a cDNA encoding human galactose-1-phosphate uridyl transferase." Flach J.E., Reichardt J.K.V., Elsas L.J. II Mol. Biol. Med. 7:365-369(1990) [PubMed] [Europe PMC] [Abstract] Cited for: SEQUENCE REVISION.
[3]	"The human galactose-1-phosphate uridyltransferase gene." Leslie N.D., Immerman E.B., Flach J.E., Florez M., Fridovich-Keil J.L., Elsas L.J. Genomics 14:474-480(1992) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT GALCT ARG-188.
[4]	"Cloning of human full-length CDSs in BD Creator(TM) system donor vector." Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S., Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y., Phelan M., Farmer A. Submitted (AUG-2003) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT ASP-314.
[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] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2). Tissue: Thymus.
[6]	"DNA sequence and analysis of human chromosome 9." Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L., Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R., Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S., Bagguley C.L. , Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E., Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M., Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J., Frankish A., Frankland J.A., French L., Fricker D.G., Garner P., Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S., Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E., Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D., Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E., Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K., Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J., Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E., McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V., Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S., Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K., Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J., Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L., Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M., Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J., Dunham I. Nature 429:369-374(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[7]	Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[8]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT ASP-314. Tissue: Skin.
[9]	"Genetic basis of galactosemia." Reichardt J.K.V. Hum. Mutat. 1:190-196(1992) [PubMed] [Europe PMC] [Abstract] Cited for: REVIEW ON GALCT MUTATIONS.
[10]	"Classical galactosemia and mutations at the galactose-1-phosphate uridyl transferase 'GALT' gene." Tyfield L., Reichardt J., Fridovich-Keil J., Croke D.T., Elsas L.J. II, Strobl W., Kozak L., Coskun T., Novelli G., Okano Y., Zekanowski C., Shin Y., Boleda M.D. Hum. Mutat. 13:417-430(1999) [PubMed] [Europe PMC] [Abstract] Cited for: REVIEW ON GALCT MUTATIONS.
[11]	"Correlation assessment among clinical phenotypes, expression analysis and molecular modeling of 14 novel variations in the human galactose-1-phosphate uridylyltransferase gene." Tang M., Facchiano A., Rachamadugu R., Calderon F., Mao R., Milanesi L., Marabotti A., Lai K. Hum. Mutat. 33:1107-1115(2012) [PubMed] [Europe PMC] [Abstract] Cited for: BIOPHYSICOCHEMICAL PROPERTIES, VARIANTS GALCT ASN-34; GLN-132; LEU-168; THR-170; PRO-227; GLN-259; VAL-291 AND PRO-327, CHARACTERIZATION OF VARIANTS GALCT ASN-34; GLN-132; LEU-135; LEU-168; THR-170; HIS-185; ARG-188; CYS-201; LYS-220; SER-223; PRO-227; GLN-259; ASN-278; PHE-289; VAL-291 AND PRO-327.
[12]	"Molecular characterization of two galactosemia mutations: correlation of mutations with highly conserved domains in galactose-1-phosphate uridyl transferase." Reichardt J.K.V., Packman S., Woo S.L.C. Am. J. Hum. Genet. 49:860-867(1991) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS GALCT ARG-188 AND TRP-333.
[13]	"Molecular basis of galactosemia: mutations and polymorphisms in the gene encoding human galactose-1-phosphate uridylyltransferase." Reichardt J.K.V., Woo S.L.C. Proc. Natl. Acad. Sci. U.S.A. 88:2633-2637(1991) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS GALCT MET-44 AND LYS-142, VARIANTS MET-62 AND ASP-314.
[14]	Erratum Reichardt J.K.V., Woo S.L.C. Proc. Natl. Acad. Sci. U.S.A. 88:7457-7457(1991)
[15]	"Molecular characterization of two galactosemia mutations and one polymorphism: implications for structure-function analysis of human galactose-1-phosphate uridyltransferase." Reichardt J.K.V., Levy H.L., Woo S.L.C. Biochemistry 31:5430-5433(1992) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS GALCT PRO-74 AND SER-171, VARIANT LEU-135.
[16]	"Characterization of two missense mutations in human galactose-1-phosphate uridyltransferase: different molecular mechanisms for galactosemia." Reichardt J.K.V., Belmont J.W., Levy H.L., Woo S.L.C. Genomics 12:596-600(1992) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS GALCT TRP-148 AND PRO-195.
[17]	"Molecular characterization of the H319Q galactosemia mutation." Reichardt J.K.V., Novelli G., Dallapiccola B. Hum. Mol. Genet. 2:325-326(1993) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT GALCT GLN-319.
[18]	"On the molecular nature of the Duarte variant of galactose-1-phosphate uridyl transferase (GALT)." Lin H.-C., Kirby L.T., Ng W.G., Reichardt J.K.V. Hum. Genet. 93:167-169(1994) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT DUARTE.
[19]	"Galactosemia: a strategy to identify new biochemical phenotypes and molecular genotypes." Elsas L.J., Langley S.D., Steele E., Evinger J., Frodovich-Keil J.L., Brown A., Singh R., Fernhoff P., Hjelm L.N., Dembure P.P. Am. J. Hum. Genet. 56:630-639(1995) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS GALCT.
[20]	"Identification and functional analysis of three distinct mutations in the human galactose-1-phosphate uridyltransferase gene associated with galactosemia in a single family." Fridovich-Keil J.L., Langley S.D., Mazur L.A., Lennon J.C., Dembure P.P., Elsas L.J. II Am. J. Hum. Genet. 56:640-646(1995) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS GALCT LEU-135; ALA-151 AND ARG-188.
[21]	"Mutations in the galactose-1-phosphate uridyltransferase gene of two families with mild galactosaemia variants." Sommer M., Gathof B.S., Podskarbi T., Giugliani R., Kleinlein B., Shin Y.S. J. Inherit. Metab. Dis. 18:567-576(1995) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS GALCT CYS-67 AND VAL-330.
[22]	"Molecular characterization of galactosemia (type 1) mutations in Japanese." Ashino J., Okano Y., Suyama I., Yamazaki T., Yoshino M., Furuyama J., Lin H.-C., Reichardt J.K.V., Isshiki G. Hum. Mutat. 6:36-43(1995) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS GALCT HIS-231 AND TRP-333, VARIANT ASP-314.
[23]	"Three missense mutations in the galactose-1-phosphate uridyltransferase gene of three families with mild galactosaemia." Shin Y.S., Gathof B.S., Podskarbi T., Sommer M., Giugliani R., Gresser U. Eur. J. Pediatr. 155:393-397(1996) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS GALCT CYS-55 AND PHE-329.
[24]	"Three new mutations (P183T, V150L, 528insG) and eleven sequence polymorphisms in Italian patients with galactose-1-phosphate uridyltransferase (GALT) deficiency." Maceratesi P., Sangiuolo F., Novelli G., Ninfali P., Magnani M., Reichardt J.K.V., Dallapiccola B. Hum. Mutat. 8:369-372(1996) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS GALCT LEU-150; THR-183; ARG-188 AND GLN-319.
[25]	"Molecular basis of galactose-1-phosphate uridyltransferase deficiency involving skeletal muscle." Ninfali P., Bresolin N., Dallapiccola B., Novelli G. J. Neurol. 243:102-103(1996) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT GALCT THR-183.
[26]	"Molecular heterogeneity of classical and Duarte galactosemia: mutation analysis by denaturing gradient gel electrophoresis." Greber-Platzer S., Guldberg P., Scheibenreiter S., Item C., Schuller E., Patel N., Strobl W. Hum. Mutat. 10:49-57(1997) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS GALCT TYR-28; ASN-32; PRO-38; GLY-123; LEU-143 AND LEU-325.
[27]	"Identification of mutations in the galactose-1-phosphate uridyltransferase (GALT) gene in 16 Turkish patients with galactosemia, including a novel mutation of F294Y." Seyrantepe V., Ozguc M., Coskun T., Ozalp I., Reichardt J.K.V. Hum. Mutat. 13:339-339(1999) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS GALCT LYS-142; ASN-285; TYR-294 AND THR-320.
[28]	"Molecular analysis in newborns from Texas affected with galactosemia." Yang Y.P., Corley N., Garcia-Heras J. Hum. Mutat. 19:82-83(2002) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS GALCT ALA-23; LEU-135; MET-138; GLN-184; ARG-188; PRO-195; SER-251; ASN-285; LYS-344 AND ASP-345, VARIANT ASP-314.
[29]	"Mutations at the galactose-1-p-uridyltransferase gene in infants with a positive galactosemia newborn screening test." Item C., Hagerty B.P., Muhl A., Greber-Platzer S., Stockler-Ipsiroglu S., Strobl W. Pediatr. Res. 51:511-516(2002) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS GALCT HIS-9; THR-129 AND ILE-342.
[30]	"Identification of novel mutations in classical galactosemia." Bosch A.M., Ijlst L., Oostheim W., Mulders J., Bakker H.D., Wijburg F.A., Wanders R.J., Waterham H.R. Hum. Mutat. 25:502-502(2005) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS GALCT GLN-51; TRP-135; ASN-229 AND HIS-252.
[31]	"Mutational spectrum of classical galactosaemia in Spain and Portugal." Gort L., Boleda M.D., Tyfield L., Vilarinho L., Rivera I., Cardoso M.L., Santos-Leite M., Giros M., Briones P. J. Inherit. Metab. Dis. 29:739-742(2006) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS GALCT HIS-28; HIS-33; ALA-181; SER-185; GLY-192 AND ALA-265.
[32]	"Combination of enzyme analysis, allele-specific PCR and sequencing to detect mutations in the GALT gene." Calderon F.R., Nelson L., Dobrowolski P., Sinitsyna I., Phansalkar A., Longo N., Pasquali M., Mao R. J. Inherit. Metab. Dis. 30:818-818(2007) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS GALCT HIS-185; CYS-201; LYS-220; SER-223; ASN-278 AND PHE-289.
[33]	"Low allelic heterogeneity in a sample of Mexican patients with classical galactosaemia." Velazquez-Aragon J., Alcantara-Ortigoza M.A., Vela-Amieva M., Monroy S., Martinez-Cruz V., Todd-Quinones C., Gonzalez-del Angel A. J. Inherit. Metab. Dis. 31:S333-S337(2008) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS GALCT ARG-112 AND ARG-188, VARIANT ASP-314.
[34]	"Biochemical and molecular characterization of GALT gene from Indian galactosemia patients: Identification of 10 novel mutations and their structural and functional implications." Singh R., Thapa B.R., Kaur G., Prasad R. Clin. Chim. Acta 414:191-196(2012) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS GALCT HIS-89; ARG-103; ALA-166; SER-171; PHE-181; LEU-185; ARG-188; ARG-285; GLN-319 AND LEU-333, VARIANT ASP-314.
+	Additional computationally mapped references.

Web resources

Galactose-1-Phosphate Uridyl Transferase (GALT)

Galactosemia mutation database

GeneReviews

Cross-references

Sequence databases

EMBL
GenBank
DDBJ

M60091 mRNA. Translation: AAC83409.1.
M96264 Genomic DNA. Translation: AAA74450.1.
L46359 Genomic DNA. Translation: AAB59606.1.
L46360 Genomic DNA. Translation: AAB59604.1.
L46361 Genomic DNA. Translation: AAB59605.1.
L46362 Genomic DNA. Translation: AAB59603.1.
L46363 Genomic DNA. Translation: AAB59607.1.
L46364 Genomic DNA. Translation: AAB59584.1.
L46365 Genomic DNA. Translation: AAB59585.1.
L46691 Genomic DNA. Translation: AAB59586.1.
L46692 Genomic DNA. Translation: AAB59588.1.
L46693 Genomic DNA. Translation: AAB59587.1.
L46694 Genomic DNA. Translation: AAB59589.1.
L46698 Genomic DNA. Translation: AAB59590.1.
L46699 Genomic DNA. Translation: AAB59608.1.
L46703 Genomic DNA. Translation: AAB59591.1.
L46704 Genomic DNA. Translation: AAB59578.1.
L46705 Genomic DNA. Translation: AAB59592.1.
L46706 Genomic DNA. Translation: AAB59593.1.
L46707 Genomic DNA. Translation: AAA81544.1.
L46708 Genomic DNA. Translation: AAA81545.1.
L46709 Genomic DNA. Translation: AAB59594.1.
L46710 Genomic DNA. Translation: AAB59595.1.
L46711 Genomic DNA. Translation: AAB59596.1.
L46712 Genomic DNA. Translation: AAB59597.1.
L46713 Genomic DNA. Translation: AAB59598.1.
L46714 Genomic DNA. Translation: AAB59599.1.
L46715 Genomic DNA. Translation: AAB59601.1.
L46716 Genomic DNA. Translation: AAB59600.1.
L46717 Genomic DNA. Translation: AAA81546.1.
BT009852 mRNA. Translation: AAP88854.1.
AK303279 mRNA. Translation: BAG64359.1.
AL162231 Genomic DNA. Translation: CAH69856.1.
AL450283 Genomic DNA. No translation available.
CH471071 Genomic DNA. Translation: EAW58428.1.
BC015045 mRNA. Translation: AAH15045.1.

IPI

IPI00013925.
IPI00941286.

PIR

A44473.
I57459.
JL0053.

RefSeq

NP_000146.2. NM_000155.3.
NP_001245261.1. NM_001258332.1.

UniGene

Hs.522090.

3D structure databases

PDBe
RCSB PDB
PDBj

Entry	Method	Resolution (Å)	Chain	Positions	PDBsum
1R3A	model	-	A/B	21-379	[»]

ProteinModelPortal

P07902.

ModBase

Search...

Protein-protein interaction databases

IntAct

P07902. 1 interaction.

PTM databases

PhosphoSite

P07902.

Polymorphism databases

DMDM

3183522.

Proteomic databases

PaxDb

P07902.

PRIDE

P07902.

Protocols and materials databases

DNASU

2592.

StructuralBiologyKnowledgebase

Search...

Genome annotation databases

Ensembl

ENST00000378842; ENSP00000368119; ENSG00000213930.
ENST00000450095; ENSP00000401956; ENSG00000213930.

GeneID

2592.

KEGG

hsa:2592.

UCSC

uc003zve.3. human.

Organism-specific databases

CTD

2592.

GeneCards

GC09P034636.

HGNC

HGNC:4135. GALT.

HPA

HPA004868.
HPA005729.

MIM

230400. phenotype.
606999. gene.

neXtProt

NX_P07902.

Orphanet

79239. Classic galactosemia.

PharmGKB

PA28548.

GenAtlas

Search...

Phylogenomic databases

eggNOG

COG1085.

HOVERGEN

HBG051700.

InParanoid

P07902.

KO

K00965.

OMA

PDYQGTY.

OrthoDB

EOG4J6RR0.

PhylomeDB

P07902.

Enzyme and pathway databases

Reactome

REACT_111217. Metabolism.

SABIO-RK

P07902.

UniPathway

UPA00214.

Gene expression databases

ArrayExpress

P07902.

Bgee

P07902.

Genevestigator

P07902.

GermOnline

ENSG00000137070. Homo sapiens.

Family and domain databases

Gene3D

3.30.428.10. 2 hits.

InterPro

IPR001937. GalP_UDPtransf1.
IPR019779. GalP_UDPtransf1_His-AS.
IPR005850. GalP_Utransf_C.
IPR005849. GalP_Utransf_N.
IPR011146. HIT-like.
[Graphical view]

PANTHER

PTHR11943. PTHR11943. 1 hit.

Pfam

PF02744. GalP_UDP_tr_C. 1 hit.
PF01087. GalP_UDP_transf. 1 hit.
[Graphical view]

PIRSF

PIRSF000808. GalT. 1 hit.

SUPFAM

SSF54197. His_triad-like_motif. 2 hits.

TIGRFAMs

TIGR00209. galT_1. 1 hit.

PROSITE

PS00117. GAL_P_UDP_TRANSF_I. 1 hit.
[Graphical view]

ProtoNet

Search...

Other

ChiTaRS

GALT. human.

GenomeRNAi

2592.

NextBio

10253.

SOURCE

Search...

Entry information

Entry name

GALT_HUMAN

Accession

Primary (citable) accession number: P07902
Secondary accession number(s): 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

Entry history

Integrated into UniProtKB/Swiss-Prot:	August 1, 1988
Last sequence update:	July 15, 1998
Last modified:	May 1, 2013
This is version 158 of the entry and version 3 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.