Uniprot ID: Q3T906	Protein name : N-acetylglucosamine-1-phosphotransferase subunits alpha/beta	Gene : GNPTAB GNPTA KIAA1208
Protein Families : Stealth family	Squence Length : 1256

Sequence	>Q3T906 1257 MLFKLLQRQTYTCLSHRYGLYVCFLGVVVTIVSAFQFGEVVLEWSRDQYHVLFDSYRDNIAGKSFQNRLCLPMPIDVVYTWVNGTDLELLKELQQVREQMEEEQKAMREILGKNTTEPTKKSEKQLECLLTHCIKVPMLVLDPALPANITLKDLPSLYPSFHSASDIFNVAKPKNPSTNVSVVVFDSTKDVEDAHSGLLKGNSRQTVWRGYLTTDKEVPGLVLMQDLAFLSGFPPTFKETNQLKTKLPENLSSKVKLLQLYSEASVALLKLNNPKDFQELNKQTKKNMTIDGKELTISPAYLLWDLSAISQSKQDEDISASRFEDNEELRYSLRSIERHAPWVRNIFIVTNGQIPSWLNLDNPRVTIVTHQDVFRNLSHLPTFSSPAIESHIHRIEGLSQKFIYLNDDVMFGKDVWPDDFYSHSKGQKVYLTWPVPNCAEGCPGSWIKDGYCDKACNNSACDWDGGDCSGNSGGSRYIAGGGGTGSIGVGQPWQFGGGINSVSYCNQGCANSWLADKFCDQACNVLSCGFDAGDCGQDHFHELYKVILLPNQTHYIIPKGECLPYFSFAEVAKRGVEGAYSDNPIIRHASIANKWKTIHLIMHSGMNATTIHFNLTFQNTNDEEFKMQITVEVDTREGPKLNSTAQKGYENLVSPITLLPEAEILFEDIPKEKRFPKFKRHDVNSTRRAQEEVKIPLVNISLLPKDAQLSLNTLDLQLEHGDITLKGYNLSKSALLRSFLMNSQHAKIKNQAIITDETNDSLVAPQEKQVHKSILPNSLGVSERLQRLTFPAVSVKVNGHDQGQNPPLDLETTARFRVETHTQKTIGGNVTKEKPPSLIVPLESQMTKEKKITGKEKENSRMEENAENHIGVTEVLLGRKLQHYTDSYLGFLPWEKKKYFQDLLDEEESLKTQLAYFTDSKNTGRQLKDTFADSLRYVNKILNSKFGFTSRKVPAHMPHMIDRIVMQELQDMFPEEFDKTSFHKVRHSEDMQFAFSYFYYLMSAVQPLNISQVFDEVDTDQSGVLSDREIRTLATRIHELPLSLQDLTGLEHMLINCSKMLPADITQLNNIPPTQESYYDPNLPPVTKSLVTNCKPVTDKIHKAYKDKNKYRFEIMGEEEIAFKMIRTNVSHVVGQLDDIRKNPRKFVCLNDNIDHNHKDAQTVKAVLRDFYESMFPIPSQFELPREYRNRFLHMHELQEWRAYRDKLKFWTHCVLATLIMFTIFSFFAEQLIALKRKIFPRRRIHKEASPNRIRV
Repeat regions	REPEAT 438 473 LNR 1 REPEAT 505 545 LNR 2
Sequence region of repeats	438- 473 EGCPGSWIKDGYCDKACNNSACDWDGGDCSGNSGGS 505- 545 QGCANSWLADKFCDQACNVLSCGFDAGDCGQDHFHELYKVI
Domains	DOMAIN 700 813 DMAP-interaction. DOMAIN 1005 1040 EF-hand
Function	"Catalyzes the formation of mannose 6-phosphate (M6P) markers on high mannose type oligosaccharides in the Golgi apparatus. M6P residues are required to bind to the M6P receptors (MPR), which mediate the vesicular transport of lysosomal enzymes to the endosomal/prelysosomal compartment"
Calcium Binding	CA_BIND 1018 1029 {ECO:0000255\|PROSITE-ProRule:PRU00448}
Mutation	346 346 I->A: Partially cleaved by MBTPS1 357 357 W->A: Abolishes proteolytic cleavage by MBTPS1 925 925 R->A: Abolishes proteolytic cleavage by MBTPS1 927 927 L->A: Abolishes proteolytic cleavage by MBTPS1 928 928 K->A: Abolishes proteolytic cleavage by MBTPS1
Disease	"DISEASE: Mucolipidosis type II (MLII) [MIM:252500]: Fatal, autosomal recessive, lysosomal storage disorder characterized by severe clinical and radiologic features, peculiar fibroblast inclusions, and no excessive mucopolysacchariduria Congenital dislocation of the hip, thoracic deformities, hernia, and hyperplastic gums are evident soon after birth Note=The disease is caused by mutations affecting the gene represented in this entry ; DISEASE: Mucolipidosis type III complementation group A (MLIIIA) [MIM:252600]: Autosomal recessive disease of lysosomal enzyme targeting Clinically MLIII is characterized by restricted joint mobility, skeletal dysplasia, and short stature Mildly coarsened facial features and thickening of the skin have been described Cardiac valvular disease and corneal clouding may also occur Half of the reported patients show learning disabilities or mental retardation Note=The disease is caused by mutations affecting the gene represented in this entry ; DISEASE: Note=Genetic variations in GNPTAB have been suggested to play a role in susceptibility to persistent stuttering Stuttering is a common speech disorder characterized by repetitions, prolongations, and interruptions in the flow of speech"

Q3T906 Proteins with LNR Repeats