Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
79158
Gene name Gene Name - the full gene name approved by the HGNC.
N-acetylglucosamine-1-phosphate transferase subunits alpha and beta
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
GNPTAB
Synonyms (NCBI Gene) Gene synonyms aliases
GNPTA, ICD
Chromosome Chromosome number
12
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
12q23.2
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
607840 29670 ENSG00000111670
Protein
UniProt ID 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  
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Mucolipidosis mucolipidosis type ii rs1594204203, rs281865009, rs281865023, rs281865033, rs34946266, rs34940801, rs1408113895, rs281864996, rs1594210760, rs281865022, rs200646278, rs34256381, rs137852898, rs397507562, rs281865024
View all (61 more)
N/A
mucolipidosis Mucolipidosis rs281865018, rs281864970, rs137852897, rs281865007, rs397507448, rs281865009, rs34940801, rs281864996, rs1594210760, rs200646278, rs397507562, rs281865024, rs35576380, rs797044663, rs781689303
View all (15 more)
N/A
Pseudo-Hurler Polydystrophy pseudo-hurler polydystrophy rs281865026, rs281864980, rs1408113895, rs281865009, rs281865022, rs34940801, rs34788341, rs1429181351, rs142065232, rs281865025, rs281864947, rs397507447, rs281865031, rs281864973, rs142172397
View all (16 more)
N/A
Mucopolysaccharidosis Mucopolysaccharidosis, MPS-III-A rs35878526, rs281865037, rs34788341, rs34901902, rs34159654, rs34946266 N/A
Associations from Text Mining Disease 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