Gene Gene information from NCBI Gene database.
Entrez ID 79158
Gene name N-acetylglucosamine-1-phosphate transferase subunits alpha and beta
Gene symbol GNPTAB
Synonyms (NCBI Gene)
GNPTAICD
Chromosome 12
Chromosome location 12q23.2
Summary This gene encodes two of three subunit types of the membrane-bound enzyme N-acetylglucosamine-1-phosphotransferase, a heterohexameric complex composed of two alpha, two beta, and two gamma subunits. The encoded protein is proteolytically cleaved at the Ly
SNPs SNP information provided by dbSNP.
167
SNP ID Visualize variation Clinical significance Consequence
rs34002892 GA>- Pathogenic Genic downstream transcript variant, coding sequence variant, frameshift variant
rs34159654 T>G Likely-pathogenic, pathogenic Missense variant, genic upstream transcript variant, 5 prime UTR variant, coding sequence variant
rs34161232 A>TTT Pathogenic Frameshift variant, coding sequence variant
rs34256381 ->TAGG Pathogenic Frameshift variant, coding sequence variant
rs34517004 T>- Pathogenic Frameshift variant, 5 prime UTR variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
749
miRTarBase ID miRNA Experiments Reference
MIRT027553 hsa-miR-98-5p Microarray 19088304
MIRT040448 hsa-miR-615-3p CLASH 23622248
MIRT557603 hsa-miR-548c-3p PAR-CLIP 21572407
MIRT557602 hsa-miR-5582-3p PAR-CLIP 21572407
MIRT557601 hsa-miR-548az-5p PAR-CLIP 21572407
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
26
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane IDA 23733939, 24375680
GO:0000139 Component Golgi membrane IEA
GO:0003976 Function UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity IBA
GO:0003976 Function UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity IDA 19955174, 23733939, 25788519
GO:0003976 Function UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
607840 29670 ENSG00000111670
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q3T906
Protein name N-acetylglucosamine-1-phosphotransferase subunits alpha/beta (EC 2.7.8.17) (GlcNAc-1-phosphotransferase subunits alpha/beta) (Stealth protein GNPTAB) (UDP-N-acetylglucosamine-1-phosphotransferase subunits alpha/beta) [Cleaved into: N-acetylglucosamine-1-p
Protein 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 t
PDB 2N6D , 7S05 , 7S06 , 9BGF , 9BGG
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF17101 Stealth_CR1 73 101 Stealth protein CR1, conserved region 1 Family
PF18440 GlcNAc-1_reg 218 305 Putative GlcNAc-1 phosphotransferase regulatory domain Domain
PF11380 Stealth_CR2 322 429 Stealth protein CR2, conserved region 2 Family
PF00066 Notch 435 469 LNR domain Domain
PF00066 Notch 502 536 LNR domain Domain
PF06464 DMAP_binding 699 814 DMAP1-binding Domain Domain
PF17102 Stealth_CR3 955 1003 Stealth protein CR3, conserved region 3 Family
PF17103 Stealth_CR4 1138 1194 Stealth protein CR4, conserved region 4 Family
Tissue specificity TISSUE SPECIFICITY: Expressed in the heart, whole brain, placenta, lung, liver, skeletal muscle, kidney and pancreas. {ECO:0000269|PubMed:16120602}.
Sequence
MLFKLLQRQTYTCLSHRYGLYVCFLGVVVTIVSAFQFGEVVLEWSRDQYHVLFDSYRDNI
AGKSFQNRLCLPMPIDVVYTWVNGTDLELLKELQQVREQMEEEQKAMREILGKNTTEPTK
KSEKQLECLLTHCIKVPMLVLDPALPANITLKDLPSLYPSFHSASDIFNVAKPKNPSTNV
SVVVFDSTKDVEDAHSGLLKGNSRQTVWRGYLTTDKEVPGLVLMQDLAFLSGFPPTFKET
NQLKTKLPENLSSKVKLLQLYSEASVALLKLNNPKDFQELNKQTKKNMTIDGKELTISPA
YLLWD
LSAISQSKQDEDISASRFEDNEELRYSLRSIERHAPWVRNIFIVTNGQIPSWLNL
DNPRVTIVTHQDVFRNLSHLPTFSSPAIESHIHRIEGLSQKFIYLNDDVMFGKDVWPDDF
YSHSKGQKV
YLTWPVPNCAEGCPGSWIKDGYCDKACNNSACDWDGGDCSGNSGGSRYIAG
GGGTGSIGVGQPWQFGGGINSVSYCNQGCANSWLADKFCDQACNVLSCGFDAGDCGQDHF
HELYKVILLPNQTHYIIPKGECLPYFSFAEVAKRGVEGAYSDNPIIRHASIANKWKTIHL
IMHSGMNATTIHFNLTFQNTNDEEFKMQITVEVDTREGPKLNSTAQKGYENLVSPITLLP
EAEILFEDIPKEKRFPKFKRHDVNSTRRAQEEVKIPLVNISLLPKDAQLSLNTLDLQLEH
GDITLKGYNLSKSALLRSFLMNSQHAKIKNQAIITDETNDSLVAPQEKQVHKSILPNSLG
VSERLQRLTFPAVSVKVNGHDQGQNPPLDLETTA
RFRVETHTQKTIGGNVTKEKPPSLIV
PLESQMTKEKKITGKEKENSRMEENAENHIGVTEVLLGRKLQHYTDSYLGFLPWEKKKYF
QDLLDEEESLKTQLAYFTDSKNTGRQLKDTFADSLRYVNKILNSKFGFTSRKVPAHMPHM
IDRIVMQELQDMFPEEFDKTSFHKVRHSEDMQFAFSYFYYLMS
AVQPLNISQVFDEVDTD
QSGVLSDREIRTLATRIHELPLSLQDLTGLEHMLINCSKMLPADITQLNNIPPTQESYYD
PNLPPVTKSLVTNCKPVTDKIHKAYKDKNKYRFEIMGEEEIAFKMIRTNVSHVVGQLDDI
RKNPRKFVCLNDNIDHNHKDAQTVKAVLRDFYESMFPIPSQFELPREYRNRFLH
MHELQE
WRAYRDKLKFWTHCVLATLIMFTIFSFFAEQLIALKRKIFPRRRIHKEASPNRIRV
Sequence length 1256
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG 
  Lysosome  
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
3002
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Abnormality of metabolism/homeostasis Likely pathogenic; Pathogenic rs2137116356, rs281864983 RCV001814474
RCV001814017
GNPTAB-mucolipidosis Pathogenic; Likely pathogenic rs2547957136, rs281865004 RCV005637049
RCV005632192
GNPTAB-related disorder Pathogenic; Likely pathogenic rs137852897, rs281865031, rs34002892, rs2547957205, rs2547975422, rs281865024, rs397507447, rs281864983 RCV003398424
RCV004528068
RCV004528069
RCV004528688
RCV004529353
RCV004739313
RCV004528150
RCV003398583
Juvenile osteochondrosis of spine Likely pathogenic; Pathogenic rs281864980 RCV000626961
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
- no classification for the single variant rs281865003, rs281865016, rs281865015, rs281864959, rs281864958 -
Acute myeloid leukemia Benign rs117751503 RCV005923791
Cervical cancer Benign rs3751249 RCV005893055
Cholangiocarcinoma Benign rs11111024 RCV005903888
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Developmental Disabilities Associate 30208878
Disease Associate 39766783
Dyslexia Associate 25643770, 32560373
Hypertension Pulmonary Associate 24060719
Lysosomal Storage Diseases Associate 23566849, 31603145, 35939698, 39461112
Medulloblastoma Associate 39461112
Mucolipidoses Associate 16465621, 19617216, 23566849, 24045841, 24060719, 26130485, 28095893, 29872134, 3001079, 30208878, 32220096, 35939698, 39461112, 39766783, 40141052
View all (1 more)
Mucolipidosis II Alpha Beta Associate 23773965, 26130485, 29872134, 30208878
Mucolipidosis III Gamma Associate 10712439, 26130485
Mucopolysaccharidosis I Associate 31603145