P07902 (GALT_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
December 14, 2011.
Version 145.
History...
Names·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize orderNames 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 |
| ||
| 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 | |
| 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 bindingInferred 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
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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: 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. 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. 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 |
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| ProteinModelPortal | P07902. | ||||||||||||
| SMR | P07902. Positions 22-369. | ||||||||||||
| ModBase | Search... | ||||||||||||
Protein-protein interaction databases | |||||||||||||
| IntAct | P07902. 1 interaction. | ||||||||||||
| STRING | P07902. | ||||||||||||
Polymorphism databases | |||||||||||||
| DMDM | 3183522. | ||||||||||||
Proteomic databases | |||||||||||||
| PRIDE | P07902. | ||||||||||||
Protocols and materials databases | |||||||||||||
| StructuralBiologyKnowledgebase | Search... | ||||||||||||
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 | Search... | ||||||||||||
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 | Search... | ||||||||||||
Other | |||||||||||||
| NextBio | 10253. | ||||||||||||
| SOURCE | Search... | ||||||||||||
Entry information
| Entry name | GALT_HUMAN | ||||||||
| Accession | Primary (citable) accession number: P07902 Secondary accession number(s): Q14355 Q96BY1 | ||||||||
| Entry 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. | ||||||||
Relevant documents
| Human chromosome 9 Human chromosome 9: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| PATHWAY comments Index of metabolic and biosynthesis pathways |
| PDB cross-references Index of Protein Data Bank (PDB) cross-references |
| SIMILARITY comments Index of protein domains and families |

Clusters with