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P07902 (GALT_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 171. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (7) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length379 AA.
Sequence statusComplete.
Protein existenceEvidence 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

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 keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 379379Galactose-1-phosphate uridylyltransferase
PRO_0000169882

Sites

Active site1861Tele-UMP-histidine intermediate By similarity
Metal binding751Zinc Potential
Metal binding1841Zinc Potential
Metal binding2021Iron Potential
Metal binding3011Iron Potential
Metal binding3191Iron Potential
Metal binding3211Iron Potential

Natural variations

Alternative sequence1 – 1717MSRSG…QASEA → MTLSTLCVLGPSEPTES in isoform 2.
VSP_045604
Alternative sequence18 – 126109Missing in isoform 2.
VSP_045605
Natural variant91Q → H in GALCT. Ref.29
VAR_068531
Natural variant231T → A in GALCT. Ref.28
VAR_068532
Natural variant281D → H in GALCT. Ref.31
VAR_068533
Natural variant281D → Y in GALCT. Ref.26
VAR_002548
Natural variant321I → N in GALCT; mild. Ref.26
VAR_002549
Natural variant331R → H in GALCT. Ref.31
VAR_068534
Natural variant341Y → N in GALCT; affects protein stability. Ref.11
VAR_068535
Natural variant381Q → P in GALCT. Ref.26
VAR_002550
Natural variant441V → L in GALCT.
VAR_002551
Natural variant441V → M in GALCT; reduced enzyme activity. Ref.13
VAR_002552
Natural variant451S → L in GALCT.
VAR_008042
Natural variant511R → L in GALCT.
VAR_002553
Natural variant511R → Q in GALCT. Ref.30
VAR_023328
Natural variant551G → C in GALCT. Ref.23
VAR_002554
Natural variant621L → M. Ref.13
Corresponds to variant rs1800461 [ dbSNP | Ensembl ].
VAR_002555
Natural variant671R → C in GALCT. Ref.21
VAR_002556
Natural variant741L → P in GALCT; reduced enzyme activity. Ref.15
VAR_002557
Natural variant811A → T in GALCT.
VAR_002558
Natural variant891Y → H in GALCT. Ref.34
VAR_068824
Natural variant971N → S in GALCT.
VAR_002559
Natural variant981D → N in GALCT.
VAR_002560
Natural variant1031Q → R in GALCT. Ref.34
VAR_068825
Natural variant1121S → R in GALCT. Ref.33
VAR_068536
Natural variant1131D → N in GALCT.
VAR_002561
Natural variant1141H → L in GALCT.
VAR_002562
Natural variant1171F → S in GALCT.
VAR_002563
Natural variant1181Q → H in GALCT.
VAR_002564
Natural variant1231R → G in GALCT. Ref.26
VAR_002565
Natural variant1231R → Q in GALCT.
VAR_002566
Natural variant1251V → A in GALCT.
VAR_002567
Natural variant1271K → E in GALCT.
VAR_002568
Natural variant1291M → T in GALCT. Ref.29
VAR_008043
Natural variant1301C → Y in GALCT.
VAR_002569
Natural variant1321H → Q in GALCT; affects protein stability. Ref.11
VAR_068537
Natural variant1321H → Y in GALCT.
VAR_002570
Natural variant1351S → L in GALCT; frequent mutation in African Americans; about 5% of normal activity. Ref.11 Ref.15 Ref.20 Ref.28
Corresponds to variant rs111033690 [ dbSNP | Ensembl ].
VAR_002571
Natural variant1351S → W in GALCT. Ref.30
Corresponds to variant rs111033690 [ dbSNP | Ensembl ].
VAR_023329
Natural variant1381T → M in GALCT; mild. Ref.28
VAR_002572
Natural variant1391L → P in GALCT.
VAR_002573
Natural variant1421M → K in GALCT; 4% of normal activity. Ref.13 Ref.27
VAR_002574
Natural variant1421M → V in GALCT.
VAR_002575
Natural variant1431S → L in GALCT. Ref.26
VAR_002576
Natural variant1481R → G in GALCT.
VAR_002577
Natural variant1481R → Q in GALCT.
VAR_002578
Natural variant1481R → W in GALCT; unstable protein. Ref.16
VAR_002579
Natural variant1501V → L in GALCT. Ref.24
VAR_002580
Natural variant1511V → A in GALCT; approximatively 3% of normal activity. Ref.20
VAR_002581
Natural variant1541W → G in GALCT.
VAR_002582
Natural variant1661P → A in GALCT. Ref.34
VAR_068826
Natural variant1671W → R in GALCT.
VAR_008044
Natural variant1681V → L in GALCT; loss of activty. Ref.11
VAR_068538
Natural variant1701I → T in GALCT; loss of activty. Ref.11
VAR_068539
Natural variant1711F → S in GALCT; reduced enzyme activity. Ref.15 Ref.34
VAR_002583
Natural variant1791G → D in GALCT.
VAR_002584
Natural variant1811S → A in GALCT. Ref.31
VAR_068540
Natural variant1811S → F in GALCT. Ref.34
VAR_068827
Natural variant1831P → T in GALCT. Ref.24 Ref.25
VAR_002585
Natural variant1841H → Q in GALCT. Ref.28
VAR_002586
Natural variant1851P → H in GALCT; loss of activty. Ref.11 Ref.32
VAR_068541
Natural variant1851P → L in GALCT. Ref.34
VAR_068828
Natural variant1851P → S in GALCT. Ref.31
VAR_068542
Natural variant1881Q → 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
Corresponds to variant rs75391579 [ dbSNP | Ensembl ].
VAR_002587
Natural variant1921S → G in GALCT. Ref.31
VAR_068543
Natural variant1921S → N in GALCT.
VAR_002588
Natural variant1941F → L in GALCT.
VAR_002589
Natural variant1951L → P in GALCT; no enzymatic activity. Ref.16 Ref.28
VAR_002590
Natural variant1981I → M in GALCT.
VAR_002591
Natural variant1981I → T in GALCT.
VAR_002592
Natural variant1991A → T in GALCT.
VAR_002593
Natural variant2011R → C in GALCT; 2-fold decrease in activity. Ref.11 Ref.32
VAR_068544
Natural variant2011R → H in GALCT.
VAR_002594
Natural variant2031E → K in GALCT.
VAR_002595
Natural variant2041R → P in GALCT.
VAR_008045
Natural variant2091Y → C in GALCT.
VAR_002596
Natural variant2091Y → S in GALCT.
VAR_002597
Natural variant2121Q → H in GALCT.
VAR_002598
Natural variant2171L → P in GALCT.
VAR_002599
Natural variant2201E → K in GALCT; 3-fold decrease in activity. Ref.11 Ref.32
VAR_068545
Natural variant2231R → S in GALCT; 3-fold decrease in activity. Ref.11 Ref.32
VAR_068546
Natural variant2261L → P in GALCT.
VAR_002600
Natural variant2271L → P in GALCT; results in no detectable protein in the soluble fraction. Ref.11
VAR_068547
Natural variant2291K → N in GALCT. Ref.30
VAR_023330
Natural variant2311R → H in GALCT; 15% of normal activity. Ref.22
VAR_002601
Natural variant2491W → R in GALCT.
VAR_002602
Natural variant2511Y → C in GALCT.
VAR_002603
Natural variant2511Y → S in GALCT. Ref.28
VAR_002604
Natural variant2521Q → H in GALCT. Ref.30
VAR_023331
Natural variant2581R → C in GALCT.
VAR_002605
Natural variant2591R → Q in GALCT; loss of activity. Ref.11
VAR_068548
Natural variant2591R → W in GALCT; mild.
VAR_002606
Natural variant2621R → P in GALCT.
VAR_002607
Natural variant2631Missing in GALCT.
VAR_008046
Natural variant2651P → A in GALCT. Ref.31
VAR_068549
Natural variant2721R → G in GALCT.
VAR_008047
Natural variant2781I → N in GALCT; 18-fold decrease in activity. Ref.11 Ref.32
VAR_068550
Natural variant2821L → V in GALCT.
VAR_002608
Natural variant2851K → N in GALCT; severe; 25-40% of the European population. Ref.27 Ref.28
VAR_002609
Natural variant2851K → R in GALCT. Ref.34
VAR_068829
Natural variant2891L → F in GALCT; 3-fold decrease in activity. Ref.11 Ref.32
VAR_068551
Natural variant2891L → R in GALCT.
VAR_002610
Natural variant2911E → K in GALCT.
VAR_002611
Natural variant2911E → V in GALCT; 2-fold decrease in activity. Ref.11
VAR_068552
Natural variant2941F → Y in GALCT. Ref.27
VAR_008048
Natural variant3081E → K in GALCT.
VAR_002612
Natural variant3141N → 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 variant3171Q → H in GALCT.
VAR_002614
Natural variant3171Q → R in GALCT.
VAR_002615
Natural variant3191H → Q in GALCT. Ref.17 Ref.24 Ref.34
VAR_002616
Natural variant3201A → T in GALCT. Ref.27
VAR_002617
Natural variant3231Y → D in GALCT.
VAR_002618
Natural variant3231Y → H in GALCT.
VAR_002619
Natural variant3241P → S in GALCT.
VAR_002620
Natural variant3251P → L in GALCT. Ref.26
VAR_002621
Natural variant3271L → P in GALCT; results in no detectable protein in the soluble fraction. Ref.11
VAR_068553
Natural variant3281R → H in GALCT.
VAR_002622
Natural variant3291S → F in GALCT. Ref.23
VAR_002623
Natural variant3301A → V in GALCT; mild. Ref.21
VAR_002624
Natural variant3331R → G in GALCT.
VAR_002625
Natural variant3331R → L in GALCT. Ref.34
VAR_068830
Natural variant3331R → Q in GALCT.
VAR_002626
Natural variant3331R → W in GALCT; no enzymatic activity. Ref.12 Ref.22
VAR_002627
Natural variant3341K → R in GALCT.
VAR_002628
Natural variant3361M → L in GALCT.
VAR_002629
Natural variant3421L → I in GALCT. Ref.29
VAR_068554
Natural variant3441Q → K in GALCT. Ref.28
VAR_002630
Natural variant3451A → D in GALCT. Ref.28
VAR_068555
Natural variant3501T → A in GALCT; mild.
VAR_002631

Experimental info

Sequence conflict258 – 2592RR → VG in AAC83409. Ref.1
Sequence conflict3351F → L in BAG64359. Ref.5

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified July 15, 1998. Version 3.
Checksum: 99945FF99C4F0066

FASTA37943,363
        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 

« Hide

Isoform 2 [UniParc].

Checksum: DC1A03FDA8DC06FE
Show »

FASTA27031,107

References

« Hide '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. expand/collapse author list , 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. expand/collapse author list , 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. expand/collapse author list , 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

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.
CCDSCCDS59122.1. [P07902-2]
CCDS6565.1. [P07902-1]
PIRA44473.
I57459.
JL0053.
RefSeqNP_000146.2. NM_000155.3. [P07902-1]
NP_001245261.1. NM_001258332.1. [P07902-2]
UniGeneHs.522090.

3D structure databases

PDBe
RCSB-PDB
PDBj
EntryMethodResolution (Å)ChainPositionsPDBsum
1R3Amodel-A/B21-379[»]
ProteinModelPortalP07902.
SMRP07902. Positions 24-366.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid108864. 3 interactions.
IntActP07902. 1 interaction.

PTM databases

PhosphoSiteP07902.

Polymorphism databases

DMDM3183522.

Proteomic databases

MaxQBP07902.
PaxDbP07902.
PRIDEP07902.

Protocols and materials databases

DNASU2592.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000378842; ENSP00000368119; ENSG00000213930. [P07902-1]
ENST00000450095; ENSP00000401956; ENSG00000213930. [P07902-2]
GeneID2592.
KEGGhsa:2592.
UCSCuc003zve.4. human. [P07902-1]

Organism-specific databases

CTD2592.
GeneCardsGC09P034636.
GeneReviewsGALT.
HGNCHGNC:4135. GALT.
HPAHPA004868.
HPA005729.
MIM230400. phenotype.
606999. gene.
neXtProtNX_P07902.
Orphanet79239. Classic galactosemia.
PharmGKBPA28548.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG1085.
HOVERGENHBG051700.
InParanoidP07902.
KOK00965.
OMAVWINDST.
OrthoDBEOG7ZKSB8.
PhylomeDBP07902.
TreeFamTF300018.

Enzyme and pathway databases

ReactomeREACT_111217. Metabolism.
REACT_116125. Disease.
SABIO-RKP07902.
UniPathwayUPA00214.

Gene expression databases

ArrayExpressP07902.
BgeeP07902.
GenevestigatorP07902.

Family and domain databases

Gene3D3.30.428.10. 2 hits.
InterProIPR001937. GalP_UDPtransf1.
IPR019779. GalP_UDPtransf1_His-AS.
IPR005850. GalP_Utransf_C.
IPR005849. GalP_Utransf_N.
IPR011146. HIT-like.
[Graphical view]
PANTHERPTHR11943. PTHR11943. 1 hit.
PfamPF02744. GalP_UDP_tr_C. 1 hit.
PF01087. GalP_UDP_transf. 1 hit.
[Graphical view]
PIRSFPIRSF000808. GalT. 1 hit.
SUPFAMSSF54197. SSF54197. 2 hits.
TIGRFAMsTIGR00209. galT_1. 1 hit.
PROSITEPS00117. GAL_P_UDP_TRANSF_I. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSGALT. human.
GeneWikiGalactose%E2%80%941-phosphate_uridylyltransferase.
GenomeRNAi2592.
NextBio10253.
PROP07902.
SOURCESearch...

Entry information

Entry nameGALT_HUMAN
AccessionPrimary (citable) accession number: P07902
Secondary accession number(s): B4E097 expand/collapse secondary AC list , 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: July 9, 2014
This is version 171 of the entry and version 3 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

PDB cross-references

Index of Protein Data Bank (PDB) cross-references

PATHWAY comments

Index of metabolic and biosynthesis pathways

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 9

Human chromosome 9: entries, gene names and cross-references to MIM