Sequence information
Variant position: 505 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1256 The length of the canonical sequence.
Location on the sequence:
GSIGVGQPWQFGGGINSVSY
C NQGCANSWLADKFCDQACNV
The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation: The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human GSIGVGQPWQFGGGINSV---SYC NQGCANSWLADKFCDQACNV
Mouse GNIGAGQHWQFGGGINTI---SYC NQGCANSWLADKFCDQA
Zebrafish SVIGGGQPWQFAGGLGGLAGMSFC NQGCANSWLADKFCDQA
Sequence annotation in neighborhood: The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:Type: the type of sequence feature. Positions: endpoints of the sequence feature. Description: contains additional information about the feature.
Type Positions Description
Chain
1 – 928
N-acetylglucosamine-1-phosphotransferase subunit alpha
Repeat
505 – 545
LNR 2
Metal binding
516 – 516
Calcium
Disulfide bond
505 – 528
Alternative sequence
491 – 1256
Missing. In isoform 2.
Literature citations
Analysis of mucolipidosis II/III GNPTAB missense mutations identifies domains of UDP-GlcNAc:lysosomal enzyme GlcNAc-1-phosphotransferase involved in catalytic function and lysosomal enzyme recognition.
Qian Y.; van Meel E.; Flanagan-Steet H.; Yox A.; Steet R.; Kornfeld S.;
J. Biol. Chem. 290:3045-3056(2015)
Cited for: CHARACTERIZATION OF VARIANTS MLII LEU-81; ASP-182; PRO-205; LEU-334; LEU-348; LEU-374; ASN-732; ARG-928; VAL-955; CYS-986; PRO-1001; VAL-1054 AND MET-1236; CHARACTERIZATION OF VARIANTS MLIIIA GLN-4; TYR-15; VAL-190; GLN-334; PHE-399; THR-403; ALA-407; TYR-442; GLY-461; SER-468; TYR-505; PRO-587; PRO-926; TYR-956; GLY-1018 AND SER-1153; CHARACTERIZATION OF VARIANTS ARG-523; THR-592 AND TRP-785;
Phenotype and genotype in mucolipidoses II and III alpha/beta: a study of 61 probands.
Cathey S.S.; Leroy J.G.; Wood T.; Eaves K.; Simensen R.J.; Kudo M.; Stevenson R.E.; Friez M.J.;
J. Med. Genet. 47:38-48(2010)
Cited for: VARIANTS MLIIIA GLN-4; TYR-15; VAL-190; GLN-334; PHE-399; SER-468; TYR-505; ARG-956 AND GLY-1018; VARIANT MLII LEU-348;
Mucolipidosis II and III alpha/beta in Brazil: analysis of the GNPTAB gene.
Cury G.K.; Matte U.; Artigalas O.; Alegra T.; Velho R.V.; Sperb F.; Burin M.G.; Ribeiro E.M.; Lourenco C.M.; Kim C.A.; Valadares E.R.; Galera M.F.; Acosta A.X.; Schwartz I.V.;
Gene 524:59-64(2013)
Cited for: VARIANT MLII LEU-81; VARIANTS MLIIIA PHE-399; THR-403 AND TYR-505;
Analyses of disease-related GNPTAB mutations define a novel GlcNAc-1-phosphotransferase interaction domain and an alternative site-1 protease cleavage site.
Velho R.V.; De Pace R.; Kluender S.; Sperb-Ludwig F.; Lourenco C.M.; Schwartz I.V.; Braulke T.; Pohl S.;
Hum. Mol. Genet. 24:3497-3505(2015)
Cited for: VARIANTS MLIIIA MET-644 AND THR-1223 DEL; CHARACTERIZATION OF VARIANTS MLIIIA PHE-399; THR-403; TYR-505; ARG-575; MET-644 AND THR-1223 DEL; CHARACTERIZATION OF VARIANT MLII 937-TYR--MET-972 DEL; MUTAGENESIS OF ILE-346 AND TRP-357; SUBCELLULAR LOCATION; PROTEOLYTIC CLEAVAGE;
GNPTAB missense mutations cause loss of GlcNAc-1-phosphotransferase activity in mucolipidosis type II through distinct mechanisms.
Ludwig N.F.; Velho R.V.; Sperb-Ludwig F.; Acosta A.X.; Ribeiro E.M.; Kim C.A.; Gandelman Horovitz D.D.; Boy R.; Rodovalho-Doriqui M.J.; Lourenco C.M.; Santos E.S.; Braulke T.; Pohl S.; Schwartz I.V.D.;
Int. J. Biochem. Cell Biol. 92:90-94(2017)
Cited for: VARIANTS MLII GLY-76; LEU-81; LEU-385 AND 1111-TYR--VAL-1256 DEL; CHARACTERIZATION OF VARIANTS MLII GLY-76 AND LEU-385; VARIANTS MLIIIA LEU-81; 278-GLN--VAL-1256 DEL; THR-403 AND TYR-505; FUNCTION; SUBCELLULAR LOCATION; PROTEOLYTIC PROCESSING;
Disclaimer:
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.