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)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

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

General annotation (Comments)

Catalytic activity	UDP-glucose + alpha-D-galactose 1-phosphate = alpha-D-glucose 1-phosphate + UDP-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	Defects in GALT are the cause of galactosemia (GALCT) [MIM:230400]. Galactosemia is an inherited disorder of galactose metabolism that causes jaundice, cataracts, and mental retardation. Ref.3 Ref.10 Ref.11 Ref.13 Ref.14 Ref.15 Ref.17 Ref.18 Ref.19 Ref.20 Ref.21 Ref.22 Ref.23 Ref.24 Ref.25 Ref.26
Sequence similarities	Belongs to the galactose-1-phosphate uridylyltransferase type 1 family.

Ontologies

Keywords
Biological process	Carbohydrate metabolism Galactose metabolism
Coding sequence diversity	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	galactose catabolic process Traceable author statement. Source: Reactome
Cellular component	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...

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
	Natural variant	28	1	D → Y in GALCT. Ref.24		VAR_002548
	Natural variant	32	1	I → N in GALCT; mild. Ref.24		VAR_002549
	Natural variant	38	1	Q → P in GALCT. Ref.24		VAR_002550
	Natural variant	44	1	V → L in GALCT.		VAR_002551
	Natural variant	44	1	V → M in GALCT; reduced enzyme activity. Ref.11		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.26		VAR_023328
	Natural variant	55	1	G → C in GALCT. Ref.21		VAR_002554
	Natural variant	62	1	L → M. Ref.11 Corresponds to variant rs1800461 [ dbSNP | Ensembl ].		VAR_002555
	Natural variant	67	1	R → C in GALCT. Ref.19		VAR_002556
	Natural variant	74	1	L → P in GALCT; reduced enzyme activity. Ref.13		VAR_002557
	Natural variant	81	1	A → T in GALCT.		VAR_002558
	Natural variant	97	1	N → S in GALCT.		VAR_002559
	Natural variant	98	1	D → N in GALCT.		VAR_002560
	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.24		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.		VAR_008043
	Natural variant	130	1	C → Y in GALCT.		VAR_002569
	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.13 Ref.18		VAR_002571
	Natural variant	135	1	S → W in GALCT. Ref.26		VAR_023329
	Natural variant	138	1	T → M in GALCT; mild.		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.11 Ref.25		VAR_002574
	Natural variant	142	1	M → V in GALCT.		VAR_002575
	Natural variant	143	1	S → L in GALCT. Ref.24		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.14		VAR_002579
	Natural variant	150	1	V → L in GALCT. Ref.22		VAR_002580
	Natural variant	151	1	V → A in GALCT; approximatively 3% of normal activity. Ref.18		VAR_002581
	Natural variant	154	1	W → G in GALCT.		VAR_002582
	Natural variant	167	1	W → R in GALCT.		VAR_008044
	Natural variant	171	1	F → S in GALCT; reduced enzyme activity. Ref.13		VAR_002583
	Natural variant	179	1	G → D in GALCT.		VAR_002584
	Natural variant	183	1	P → T in GALCT. Ref.22 Ref.23		VAR_002585
	Natural variant	184	1	H → Q in GALCT.		VAR_002586
	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.10 Ref.18 Ref.22		VAR_002587
	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.14		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 → 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	226	1	L → P in GALCT.		VAR_002600
	Natural variant	229	1	K → N in GALCT. Ref.26		VAR_023330
	Natural variant	231	1	R → H in GALCT; 15% of normal activity. Ref.20		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.		VAR_002604
	Natural variant	252	1	Q → H in GALCT. Ref.26		VAR_023331
	Natural variant	258	1	R → C in GALCT.		VAR_002605
	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	272	1	R → G in GALCT.		VAR_008047
	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.25		VAR_002609
	Natural variant	289	1	L → R in GALCT.		VAR_002610
	Natural variant	291	1	E → K in GALCT.		VAR_002611
	Natural variant	294	1	F → Y in GALCT. Ref.25		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.7 Ref.11 Ref.20 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.15 Ref.22		VAR_002616
	Natural variant	320	1	A → T in GALCT. Ref.25		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.24		VAR_002621
	Natural variant	328	1	R → H in GALCT.		VAR_002622
	Natural variant	329	1	S → F in GALCT. Ref.21		VAR_002623
	Natural variant	330	1	A → V in GALCT; mild. Ref.19		VAR_002624
	Natural variant	333	1	R → G in GALCT.		VAR_002625
	Natural variant	333	1	R → Q in GALCT.		VAR_002626
	Natural variant	333	1	R → W in GALCT; no enzymatic activity. Ref.10 Ref.20		VAR_002627
	Natural variant	334	1	K → R in GALCT.		VAR_002628
	Natural variant	336	1	M → L in GALCT.		VAR_002629
	Natural variant	344	1	Q → K in GALCT.		VAR_002630
	Natural variant	350	1	T → A in GALCT; mild.		VAR_002631
Experimental info
	Sequence conflict	258 – 259	2	RR → VG in AAC83409. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	P07902 [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

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: 2840550] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA]. 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: 2233247] [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: 1427861] [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], VARIANT ASP-314.
[5]	"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: 15164053] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[6]	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].
[7]	"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: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT ASP-314. Tissue: Skin.
[8]	"Genetic basis of galactosemia." Reichardt J.K.V. Hum. Mutat. 1:190-196(1992) [PubMed: 1301925] [Abstract] Cited for: REVIEW ON GALCT MUTATIONS.
[9]	"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: 10408771] [Abstract] Cited for: REVIEW ON GALCT MUTATIONS.
[10]	"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: 1897530] [Abstract] Cited for: VARIANTS GALCT ARG-188 AND TRP-333.
[11]	"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: 2011574] [Abstract] Cited for: VARIANTS GALCT MET-44 AND LYS-142, VARIANTS MET-62 AND ASP-314.
[12]	Erratum Reichardt J.K.V., Woo S.L.C. Proc. Natl. Acad. Sci. U.S.A. 88:7457-7457(1991)
[13]	"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: 1610789] [Abstract] Cited for: VARIANTS GALCT PRO-74 AND SER-171, VARIANT LEU-135.
[14]	"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: 1373122] [Abstract] Cited for: VARIANTS GALCT TRP-148 AND PRO-195.
[15]	"Molecular characterization of the H319Q galactosemia mutation." Reichardt J.K.V., Novelli G., Dallapiccola B. Hum. Mol. Genet. 2:325-326(1993) [PubMed: 8499924] [Abstract] Cited for: VARIANT GALCT GLN-319.
[16]	"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: 8112740] [Abstract] Cited for: VARIANT DUARTE.
[17]	"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: 7887416] [Abstract] Cited for: VARIANTS GALCT.
[18]	"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: 7887417] [Abstract] Cited for: VARIANTS GALCT LEU-135; ALA-151 AND ARG-188.
[19]	"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: 8598637] [Abstract] Cited for: VARIANTS GALCT CYS-67 AND VAL-330.
[20]	"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: 7550229] [Abstract] Cited for: VARIANTS GALCT HIS-231; ASP-314 AND TRP-333.
[21]	"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: 8741038] [Abstract] Cited for: VARIANTS GALCT CYS-55 AND PHE-329.
[22]	"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: 8956044] [Abstract] Cited for: VARIANTS GALCT LEU-150; THR-183; ARG-188 AND GLN-319.
[23]	"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: 8869397] [Abstract] Cited for: VARIANT GALCT THR-183.
[24]	"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: 9222760] [Abstract] Cited for: VARIANTS GALCT TYR-28; ASN-32; PRO-38; GLY-123; LEU-143 AND LEU-325.
[25]	"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: 10220154] [Abstract] Cited for: VARIANTS GALCT LYS-142; ASN-285; TYR-294 AND THR-320.
[26]	"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: 15841485] [Abstract] Cited for: VARIANTS GALCT GLN-51; TRP-135; ASN-229 AND HIS-252.
+	Additional computationally mapped references.

Web resources

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.
AL162231 Genomic DNA. Translation: CAH69856.1.
CH471071 Genomic DNA. Translation: EAW58428.1.
BC015045 mRNA. Translation: AAH15045.1.

IPI

IPI00013925.

PIR

A44473.
I57459.
JL0053.

RefSeq

NP_000146.2. NM_000155.2.

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.

SMR

P07902. Positions 22-369.

ModBase

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Protein-protein interaction databases

IntAct

P07902. 1 interaction.

STRING

P07902.

Polymorphism databases

DMDM

3183522.

Proteomic databases

PRIDE

P07902.

Protocols and materials databases

StructuralBiologyKnowledgebase

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Genome annotation databases

Ensembl

ENST00000378842; ENSP00000368119; ENSG00000213930.

GeneID

2592.

KEGG

hsa:2592.

UCSC

uc003zve.1. human.

Organism-specific databases

CTD

2592.

GeneCards

GC09P034636.

H-InvDB

HIX0008001.

HGNC

HGNC:4135. GALT.

HPA

HPA004868.
HPA005729.

MIM

230400. phenotype.
606999. gene.

neXtProt

NX_P07902.

Orphanet

352. Galactosemia.

PharmGKB

PA28548.

GenAtlas

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Phylogenomic databases

eggNOG

prNOG17427.

HOVERGEN

HBG051700.

InParanoid

P07902.

OMA

WDHWQLH.

OrthoDB

EOG4J6RR0.

PhylomeDB

P07902.

Enzyme and pathway databases

Reactome

REACT_474. Metabolism of carbohydrates.

Gene expression databases

ArrayExpress

P07902.

Bgee

P07902.

Genevestigator

P07902.

GermOnline

ENSG00000137070. Homo sapiens.

Family and domain databases

InterPro

IPR001937. GalP_UDPtransf1.
IPR019779. GalP_UDPtransf1_His-AS.
IPR005850. GalP_Utransf_C.
IPR005849. GalP_Utransf_N.
IPR011146. His_triad-like_motif.
IPR011151. His_triad_motif.
[Graphical view]

Gene3D

G3DSA:3.30.428.10. His_triad_motif. 2 hits.

KO

K00965.

PANTHER

PTHR11943. GalP_UDPtransf1. 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

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Other

NextBio

10253.

SOURCE

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Entry information

Entry name

GALT_HUMAN

Accession

Primary (citable) accession number: P07902
Secondary accession number(s): 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:	December 14, 2011
This is version 145 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.