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Protein

N-acetylglucosamine-1-phosphotransferase subunits alpha/beta

Gene

GNPTAB

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

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.2 Publications

Catalytic activityi

UDP-N-acetyl-D-glucosamine + lysosomal-enzyme D-mannose = UMP + lysosomal-enzyme N-acetyl-D-glucosaminyl-phospho-D-mannose.1 Publication

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Metal bindingi449CalciumPROSITE-ProRule annotation1
Metal bindingi464CalciumPROSITE-ProRule annotation1
Metal bindingi467CalciumPROSITE-ProRule annotation1
Metal bindingi516CalciumPROSITE-ProRule annotation1
Metal bindingi531CalciumPROSITE-ProRule annotation1
Metal bindingi534CalciumPROSITE-ProRule annotation1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Calcium bindingi1018 – 1029PROSITE-ProRule annotationAdd BLAST12

GO - Molecular functioni

GO - Biological processi

  • carbohydrate phosphorylation Source: UniProtKB
  • lysosome organization Source: UniProtKB
  • N-glycan processing to lysosome Source: UniProtKB
  • secretion of lysosomal enzymes Source: Ensembl
Complete GO annotation...

Keywords - Molecular functioni

Transferase

Keywords - Ligandi

Calcium, Metal-binding

Enzyme and pathway databases

BioCyciZFISH:HS03442-MONOMER.
BRENDAi2.7.8.17. 2681.

Names & Taxonomyi

Protein namesi
Recommended name:
N-acetylglucosamine-1-phosphotransferase subunits alpha/beta (EC:2.7.8.171 Publication)
Alternative name(s):
GlcNAc-1-phosphotransferase subunits alpha/beta
Stealth protein GNPTAB
UDP-N-acetylglucosamine-1-phosphotransferase subunits alpha/beta
Cleaved into the following 2 chains:
Gene namesi
Name:GNPTAB
Synonyms:GNPTA, KIAA1208
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 12

Organism-specific databases

HGNCiHGNC:29670. GNPTAB.

Subcellular locationi

N-acetylglucosamine-1-phosphotransferase subunit alpha :
N-acetylglucosamine-1-phosphotransferase subunit beta :

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transmembranei22 – 42HelicalSequence analysisAdd BLAST21
Transmembranei1215 – 1235HelicalSequence analysisAdd BLAST21

GO - Cellular componenti

  • Golgi apparatus Source: UniProtKB
  • Golgi membrane Source: UniProtKB
  • integral component of membrane Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Golgi apparatus, Membrane

Pathology & Biotechi

Involvement in diseasei

Mucolipidosis type II (MLII)14 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionFatal, 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.
See also OMIM:252500
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0275094K → Q in MLIIIA; also found in patients with intermediate phenotype between MLII and MLIIIA; no effect on protein abundance; decreased retention in the Golgi; mistargeted to lysosomes and plasma membrane; decreased UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity. 6 PublicationsCorresponds to variant rs34159654dbSNPEnsembl.1
Natural variantiVAR_07312415S → Y in MLIIIA; unknown pathological significance; no effect on protein abundance; decreased protein cleavage into alpha and beta subunits; decreased retention in the Golgi; mistargeted to lysosomes and plasma membrane; decreased UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity. 3 PublicationsCorresponds to variant rs281864947dbSNPEnsembl.1
Natural variantiVAR_07083181W → L in MLII; no effect on protein abundance; decreased localization to the Golgi; defects in protein cleavage into alpha and beta subunits; loss of UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity. 3 PublicationsCorresponds to variant rs281864953dbSNPEnsembl.1
Natural variantiVAR_073125182V → D in MLII; unknown pathological significance; decreased localization to the Golgi; decreased UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity. 2 PublicationsCorresponds to variant rs281864958dbSNPEnsembl.1
Natural variantiVAR_053545190D → V in MLIIIA; also found in patients with intermediate phenotype between MLII and MLIIIA; unknown pathological significance; no effect on protein abundance; no effect on localization to the Golgi; no effect on protein cleavage into alpha and beta subunits; decreased UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity. 1 PublicationCorresponds to variant rs34946266dbSNPEnsembl.1
Natural variantiVAR_073126205Q → P in MLII; unknown pathological significance. 1 PublicationCorresponds to variant rs281864959dbSNPEnsembl.1
Natural variantiVAR_073127334R → L in MLII; no effect on protein abundance; loss of localization to the Golgi; loss of protein cleavage into alpha and beta subunits; loss of UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity. 2 PublicationsCorresponds to variant rs281864970dbSNPEnsembl.1
Natural variantiVAR_073128334R → Q in MLIIIA; no effect on protein abundance; loss of localization to the Golgi; loss of protein cleavage into alpha and beta subunits; loss of UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity. 2 PublicationsCorresponds to variant rs281864970dbSNPEnsembl.1
Natural variantiVAR_027510348I → L in MLII; unknown pathological significance; no effect on protein abundance; no effect on localization to the Golgi; no effect on protein cleavage into alpha and beta subunits; decreased UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity. 2 PublicationsCorresponds to variant rs7958709dbSNPEnsembl.1
Natural variantiVAR_062807374F → L in MLII and MLIIIA; no effect on protein abundance; no effect on localization to the Golgi; loss of UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity. 2 PublicationsCorresponds to variant rs137852900dbSNPEnsembl.1
Natural variantiVAR_062808399S → F in MLIIIA; no effect on protein abundance; loss of localization to the Golgi; defects in protein cleavage into alpha and beta subunits; decreased UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity. 6 PublicationsCorresponds to variant rs281865026dbSNPEnsembl.1
Natural variantiVAR_062809403I → T in MLIIIA; loss of localization to the Golgi; loss of protein cleavage into alpha and beta subunits; decreased UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity. 4 PublicationsCorresponds to variant rs281864973dbSNPEnsembl.1
Natural variantiVAR_025416407D → A in MLIIIA; no effect on protein abundance; no effect on localization to the Golgi; no effect on protein cleavage into alpha and beta subunits; decreased UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity. 2 PublicationsCorresponds to variant rs137852895dbSNPEnsembl.1
Natural variantiVAR_062810442C → Y in MLIIIA; no effect on localization to the Golgi; no effect on protein cleavage into alpha and beta subunits; loss of UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity toward some substrates. 2 PublicationsCorresponds to variant rs281864975dbSNPEnsembl.1
Natural variantiVAR_062811461C → G in MLIIIA; no effect on protein abundance; no effect on localization to the Golgi; no effect on protein cleavage into alpha and beta subunits; loss of UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity toward some substrates. 2 PublicationsCorresponds to variant rs281864977dbSNPEnsembl.1
Natural variantiVAR_073129468C → S in MLIIIA; patients with intermediate phenotype between MLII and MLIIIA; no effect on protein abundance; no effect on localization to the Golgi; no effect on protein cleavage into alpha and beta subunits; loss of UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity toward some substrates. 2 PublicationsCorresponds to variant rs281864979dbSNPEnsembl.1
Natural variantiVAR_070832505C → Y in MLIIIA; unknown pathological significance; decreased localization to the Golgi; decreased protein cleavage into alpha and beta subunits; decreased UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity; reduces protein abundance. 4 PublicationsCorresponds to variant rs281864980dbSNPEnsembl.1
Natural variantiVAR_074206575G → R in MLIIIA; significantly reduces protein cleavage into alpha and beta subunits; reduces protein abundance; significantly decreased localization to the Golgi; significantly reduces UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase. 1 Publication1
Natural variantiVAR_073131587R → P in MLIIIA; decreased localization to the Golgi; decreased UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity. 2 Publications1
Natural variantiVAR_074207644T → M in MLIIIA; reduces protein cleavage into alpha and beta subunits; reduces protein abundance; no effect on subcellular location in Golgi apparatus; mildly affects UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase. 1 PublicationCorresponds to variant rs386765812dbSNPEnsembl.1
Natural variantiVAR_070833732K → N in MLII; no effect on localization to the Golgi; loss of UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity toward some substrates. 3 PublicationsCorresponds to variant rs281864989dbSNPEnsembl.1
Natural variantiVAR_062812926Q → P in MLIIIA; no effect on localization to the Golgi; loss of protein cleavage into alpha and beta subunits; loss of UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity. 2 PublicationsCorresponds to variant rs281865002dbSNPEnsembl.1
Natural variantiVAR_073134928K → R in MLII; unknown pathological significance. 1 PublicationCorresponds to variant rs281865003dbSNPEnsembl.1
Natural variantiVAR_074208937 – 972Missing in MLII; abnormal protein cleavage into alpha and beta subunits; no effect on protein abundance; significantly decreased localization to the Golgi; loss of UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase. 1 PublicationAdd BLAST36
Natural variantiVAR_073135955A → V in MLII; unknown pathological significance; no effect on protein abundance; no effect on localization to the Golgi; decreased UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity. 2 PublicationsCorresponds to variant rs138390866dbSNPEnsembl.1
Natural variantiVAR_073136956H → R in MLIIIA; unknown pathological significance. 1 PublicationCorresponds to variant rs281865005dbSNPEnsembl.1
Natural variantiVAR_062813956H → Y in MLIIIA; no effect on protein abundance; no effect on localization to the Golgi. 2 PublicationsCorresponds to variant rs281865004dbSNPEnsembl.1
Natural variantiVAR_070834986R → C in MLII; decreased protein abundance; no effect on localization to the Golgi; no effect on protein cleavage into alpha and beta subunits; loss of UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity. 4 PublicationsCorresponds to variant rs769587233dbSNPEnsembl.1
Natural variantiVAR_0628141001L → P in MLII; no effect on protein abundance; decreased localization to the Golgi; decreased UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity. 2 PublicationsCorresponds to variant rs281865006dbSNPEnsembl.1
Natural variantiVAR_0731371018D → G in MLIIIA; patients with intermediate phenotype between MLII and MLIIIA; unknown pathological significance; no effect on protein abundance; decreased localization to the Golgi; loss of UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity. 2 PublicationsCorresponds to variant rs281865007dbSNPEnsembl.1
Natural variantiVAR_0731381054L → V in MLII; unknown pathological significance; no effect on localization to the Golgi; decreased UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity. 2 PublicationsCorresponds to variant rs281865010dbSNPEnsembl.1
Natural variantiVAR_0628151153N → S in MLIIIA; no effect on protein abundance; no effect on localization to the Golgi; loss of UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity. 2 PublicationsCorresponds to variant rs281865019dbSNPEnsembl.1
Natural variantiVAR_0742091223Missing in MLIIIA; no effect on protein cleavage into alpha and beta subunits; no effect on protein abundance; no effect on subcellular location in cis-Golgi apparatus; slightly affects UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity. 1 Publication1
Natural variantiVAR_0275111236K → M in MLII; decreased protein abundance; no effect on localization to the Golgi; does not suppress protein cleavage into alpha and beta subunits; decreased UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity. 3 Publications1
Mucolipidosis type III complementation group A (MLIIIA)14 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAutosomal 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.
See also OMIM:252600
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0275094K → Q in MLIIIA; also found in patients with intermediate phenotype between MLII and MLIIIA; no effect on protein abundance; decreased retention in the Golgi; mistargeted to lysosomes and plasma membrane; decreased UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity. 6 PublicationsCorresponds to variant rs34159654dbSNPEnsembl.1
Natural variantiVAR_07312415S → Y in MLIIIA; unknown pathological significance; no effect on protein abundance; decreased protein cleavage into alpha and beta subunits; decreased retention in the Golgi; mistargeted to lysosomes and plasma membrane; decreased UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity. 3 PublicationsCorresponds to variant rs281864947dbSNPEnsembl.1
Natural variantiVAR_053545190D → V in MLIIIA; also found in patients with intermediate phenotype between MLII and MLIIIA; unknown pathological significance; no effect on protein abundance; no effect on localization to the Golgi; no effect on protein cleavage into alpha and beta subunits; decreased UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity. 1 PublicationCorresponds to variant rs34946266dbSNPEnsembl.1
Natural variantiVAR_073128334R → Q in MLIIIA; no effect on protein abundance; loss of localization to the Golgi; loss of protein cleavage into alpha and beta subunits; loss of UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity. 2 PublicationsCorresponds to variant rs281864970dbSNPEnsembl.1
Natural variantiVAR_062807374F → L in MLII and MLIIIA; no effect on protein abundance; no effect on localization to the Golgi; loss of UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity. 2 PublicationsCorresponds to variant rs137852900dbSNPEnsembl.1
Natural variantiVAR_062808399S → F in MLIIIA; no effect on protein abundance; loss of localization to the Golgi; defects in protein cleavage into alpha and beta subunits; decreased UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity. 6 PublicationsCorresponds to variant rs281865026dbSNPEnsembl.1
Natural variantiVAR_062809403I → T in MLIIIA; loss of localization to the Golgi; loss of protein cleavage into alpha and beta subunits; decreased UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity. 4 PublicationsCorresponds to variant rs281864973dbSNPEnsembl.1
Natural variantiVAR_025416407D → A in MLIIIA; no effect on protein abundance; no effect on localization to the Golgi; no effect on protein cleavage into alpha and beta subunits; decreased UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity. 2 PublicationsCorresponds to variant rs137852895dbSNPEnsembl.1
Natural variantiVAR_062810442C → Y in MLIIIA; no effect on localization to the Golgi; no effect on protein cleavage into alpha and beta subunits; loss of UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity toward some substrates. 2 PublicationsCorresponds to variant rs281864975dbSNPEnsembl.1
Natural variantiVAR_062811461C → G in MLIIIA; no effect on protein abundance; no effect on localization to the Golgi; no effect on protein cleavage into alpha and beta subunits; loss of UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity toward some substrates. 2 PublicationsCorresponds to variant rs281864977dbSNPEnsembl.1
Natural variantiVAR_073129468C → S in MLIIIA; patients with intermediate phenotype between MLII and MLIIIA; no effect on protein abundance; no effect on localization to the Golgi; no effect on protein cleavage into alpha and beta subunits; loss of UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity toward some substrates. 2 PublicationsCorresponds to variant rs281864979dbSNPEnsembl.1
Natural variantiVAR_070832505C → Y in MLIIIA; unknown pathological significance; decreased localization to the Golgi; decreased protein cleavage into alpha and beta subunits; decreased UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity; reduces protein abundance. 4 PublicationsCorresponds to variant rs281864980dbSNPEnsembl.1
Natural variantiVAR_074206575G → R in MLIIIA; significantly reduces protein cleavage into alpha and beta subunits; reduces protein abundance; significantly decreased localization to the Golgi; significantly reduces UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase. 1 Publication1
Natural variantiVAR_073131587R → P in MLIIIA; decreased localization to the Golgi; decreased UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity. 2 Publications1
Natural variantiVAR_074207644T → M in MLIIIA; reduces protein cleavage into alpha and beta subunits; reduces protein abundance; no effect on subcellular location in Golgi apparatus; mildly affects UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase. 1 PublicationCorresponds to variant rs386765812dbSNPEnsembl.1
Natural variantiVAR_062812926Q → P in MLIIIA; no effect on localization to the Golgi; loss of protein cleavage into alpha and beta subunits; loss of UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity. 2 PublicationsCorresponds to variant rs281865002dbSNPEnsembl.1
Natural variantiVAR_073136956H → R in MLIIIA; unknown pathological significance. 1 PublicationCorresponds to variant rs281865005dbSNPEnsembl.1
Natural variantiVAR_062813956H → Y in MLIIIA; no effect on protein abundance; no effect on localization to the Golgi. 2 PublicationsCorresponds to variant rs281865004dbSNPEnsembl.1
Natural variantiVAR_0731371018D → G in MLIIIA; patients with intermediate phenotype between MLII and MLIIIA; unknown pathological significance; no effect on protein abundance; decreased localization to the Golgi; loss of UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity. 2 PublicationsCorresponds to variant rs281865007dbSNPEnsembl.1
Natural variantiVAR_0628151153N → S in MLIIIA; no effect on protein abundance; no effect on localization to the Golgi; loss of UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity. 2 PublicationsCorresponds to variant rs281865019dbSNPEnsembl.1
Natural variantiVAR_0742091223Missing in MLIIIA; no effect on protein cleavage into alpha and beta subunits; no effect on protein abundance; no effect on subcellular location in cis-Golgi apparatus; slightly affects UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity. 1 Publication1

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.

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi346I → A: Partially cleaved by MBTPS1. 1 Publication1
Mutagenesisi357W → A: Abolishes proteolytic cleavage by MBTPS1. 1 Publication1
Mutagenesisi925R → A: Abolishes proteolytic cleavage by MBTPS1. 1 Publication1
Mutagenesisi927L → A: Abolishes proteolytic cleavage by MBTPS1. 1 Publication1
Mutagenesisi928K → A: Abolishes proteolytic cleavage by MBTPS1. 1 Publication1

Keywords - Diseasei

Disease mutation, Mucolipidosis

Organism-specific databases

DisGeNETi79158.
MalaCardsiGNPTAB.
MIMi252500. phenotype.
252600. phenotype.
OpenTargetsiENSG00000111670.
Orphaneti576. Mucolipidosis type 2.
577. Mucolipidosis type 3.
PharmGKBiPA128394710.

Polymorphism and mutation databases

BioMutaiGNPTAB.
DMDMi90185244.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002250081 – 928N-acetylglucosamine-1-phosphotransferase subunit alphaAdd BLAST928
ChainiPRO_0000225009929 – 1256N-acetylglucosamine-1-phosphotransferase subunit betaAdd BLAST328

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi83N-linked (GlcNAc...)Sequence analysis1
Glycosylationi114N-linked (GlcNAc...)Sequence analysis1
Glycosylationi148N-linked (GlcNAc...)Sequence analysis1
Glycosylationi179N-linked (GlcNAc...)Sequence analysis1
Glycosylationi250N-linked (GlcNAc...)Sequence analysis1
Disulfide bondi438 ↔ 461PROSITE-ProRule annotation
Disulfide bondi452 ↔ 468PROSITE-ProRule annotation
Disulfide bondi505 ↔ 528PROSITE-ProRule annotation
Disulfide bondi519 ↔ 535PROSITE-ProRule annotation
Glycosylationi614N-linked (GlcNAc...)Sequence analysis1
Glycosylationi699N-linked (GlcNAc...)1 Publication1
Glycosylationi729N-linked (GlcNAc...)Sequence analysis1
Glycosylationi829N-linked (GlcNAc...)Sequence analysis1
Glycosylationi1009N-linked (GlcNAc...)Sequence analysis1
Glycosylationi1129N-linked (GlcNAc...)Sequence analysis1

Post-translational modificationi

The alpha- and beta-subunits are generated by a proteolytic cleavage by MBTPS1 protease at the Lys-928-Asp-929 bond.3 Publications

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sitei928 – 929Cleavage; by MBTPS12

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

EPDiQ3T906.
MaxQBiQ3T906.
PaxDbiQ3T906.
PeptideAtlasiQ3T906.
PRIDEiQ3T906.

PTM databases

iPTMnetiQ3T906.
PhosphoSitePlusiQ3T906.

Expressioni

Tissue specificityi

Expressed in the heart, whole brain, placenta, lung, liver, skeletal muscle, kidney and pancreas.1 Publication

Gene expression databases

BgeeiENSG00000111670.
CleanExiHS_GNPTAB.
ExpressionAtlasiQ3T906. baseline and differential.
GenevisibleiQ3T906. HS.

Organism-specific databases

HPAiHPA042343.

Interactioni

Subunit structurei

Hexamer of two alpha, two beta and two gamma (GNPTG) subunits; disulfide-linked. The alpha and/or the beta subunits of the enzyme constitute the catalytic subunits.1 Publication

Binary interactionsi

WithEntry#Exp.IntActNotes
AENQ8WTP83EBI-1104907,EBI-8637627
FAM90A1Q86YD73EBI-1104907,EBI-6658203
PSMA1P257863EBI-1104907,EBI-359352
STAMBPL1Q96FJ03EBI-1104907,EBI-745021
ZNF250P15622-33EBI-1104907,EBI-10177272

Protein-protein interaction databases

BioGridi122576. 25 interactors.
IntActiQ3T906. 14 interactors.
STRINGi9606.ENSP00000299314.

Structurei

Secondary structure

11256
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi138 – 141Combined sources4
Turni151 – 153Combined sources3
Turni155 – 157Combined sources3
Helixi159 – 161Combined sources3
Beta strandi165 – 172Combined sources8
Beta strandi175 – 184Combined sources10
Helixi188 – 196Combined sources9
Beta strandi207 – 210Combined sources4
Beta strandi225 – 231Combined sources7
Helixi240 – 244Combined sources5
Helixi249 – 251Combined sources3
Beta strandi252 – 256Combined sources5
Beta strandi262 – 265Combined sources4
Beta strandi267 – 272Combined sources6
Helixi274 – 280Combined sources7

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2N6DNMR-A135-305[»]
ProteinModelPortaliQ3T906.
SMRiQ3T906.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati438 – 473LNR 1Add BLAST36
Repeati505 – 545LNR 2Add BLAST41
Domaini700 – 813DMAP-interactionAdd BLAST114
Domaini1005 – 1040EF-handPROSITE-ProRule annotationAdd BLAST36

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi465 – 498Gly-richAdd BLAST34

Domaini

The DMAP-interaction domain mediates substrate recognition. It specifically recognizes a conformation-dependent protein determinant present in acid hydrolases (PubMed:23733939).1 Publication

Sequence similaritiesi

Belongs to the stealth family.Curated
Contains 1 DMAP-interaction domain.Curated
Contains 1 EF-hand domain.PROSITE-ProRule annotation
Contains 2 LNR (Lin/Notch) repeats.PROSITE-ProRule annotation

Keywords - Domaini

Repeat, Signal-anchor, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IEF9. Eukaryota.
ENOG410XYNB. LUCA.
GeneTreeiENSGT00390000006747.
HOVERGENiHBG057712.
InParanoidiQ3T906.
KOiK08239.
OMAiMFPEEFD.
OrthoDBiEOG091G0C78.
PhylomeDBiQ3T906.
TreeFamiTF324175.

Family and domain databases

InterProiIPR010506. DMAP1-bd.
IPR018247. EF_Hand_1_Ca_BS.
IPR002048. EF_hand_dom.
IPR000800. Notch_dom.
IPR031358. Stealth_CR1.
IPR021520. Stealth_CR2.
IPR031357. Stealth_CR3.
IPR031356. Stealth_CR4.
[Graphical view]
PfamiPF06464. DMAP_binding. 1 hit.
PF00066. Notch. 2 hits.
PF17101. Stealth_CR1. 1 hit.
PF11380. Stealth_CR2. 1 hit.
PF17102. Stealth_CR3. 1 hit.
PF17103. Stealth_CR4. 1 hit.
[Graphical view]
SMARTiSM01137. DMAP_binding. 1 hit.
SM00004. NL. 2 hits.
[Graphical view]
SUPFAMiSSF90193. SSF90193. 1 hit.
PROSITEiPS00018. EF_HAND_1. 1 hit.
PS50222. EF_HAND_2. 1 hit.
PS50258. LNR. 2 hits.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q3T906-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MLFKLLQRQT YTCLSHRYGL YVCFLGVVVT IVSAFQFGEV VLEWSRDQYH
60 70 80 90 100
VLFDSYRDNI AGKSFQNRLC LPMPIDVVYT WVNGTDLELL KELQQVREQM
110 120 130 140 150
EEEQKAMREI LGKNTTEPTK KSEKQLECLL THCIKVPMLV LDPALPANIT
160 170 180 190 200
LKDLPSLYPS FHSASDIFNV AKPKNPSTNV SVVVFDSTKD VEDAHSGLLK
210 220 230 240 250
GNSRQTVWRG YLTTDKEVPG LVLMQDLAFL SGFPPTFKET NQLKTKLPEN
260 270 280 290 300
LSSKVKLLQL YSEASVALLK LNNPKDFQEL NKQTKKNMTI DGKELTISPA
310 320 330 340 350
YLLWDLSAIS QSKQDEDISA SRFEDNEELR YSLRSIERHA PWVRNIFIVT
360 370 380 390 400
NGQIPSWLNL DNPRVTIVTH QDVFRNLSHL PTFSSPAIES HIHRIEGLSQ
410 420 430 440 450
KFIYLNDDVM FGKDVWPDDF YSHSKGQKVY LTWPVPNCAE GCPGSWIKDG
460 470 480 490 500
YCDKACNNSA CDWDGGDCSG NSGGSRYIAG GGGTGSIGVG QPWQFGGGIN
510 520 530 540 550
SVSYCNQGCA NSWLADKFCD QACNVLSCGF DAGDCGQDHF HELYKVILLP
560 570 580 590 600
NQTHYIIPKG ECLPYFSFAE VAKRGVEGAY SDNPIIRHAS IANKWKTIHL
610 620 630 640 650
IMHSGMNATT IHFNLTFQNT NDEEFKMQIT VEVDTREGPK LNSTAQKGYE
660 670 680 690 700
NLVSPITLLP EAEILFEDIP KEKRFPKFKR HDVNSTRRAQ EEVKIPLVNI
710 720 730 740 750
SLLPKDAQLS LNTLDLQLEH GDITLKGYNL SKSALLRSFL MNSQHAKIKN
760 770 780 790 800
QAIITDETND SLVAPQEKQV HKSILPNSLG VSERLQRLTF PAVSVKVNGH
810 820 830 840 850
DQGQNPPLDL ETTARFRVET HTQKTIGGNV TKEKPPSLIV PLESQMTKEK
860 870 880 890 900
KITGKEKENS RMEENAENHI GVTEVLLGRK LQHYTDSYLG FLPWEKKKYF
910 920 930 940 950
QDLLDEEESL KTQLAYFTDS KNTGRQLKDT FADSLRYVNK ILNSKFGFTS
960 970 980 990 1000
RKVPAHMPHM IDRIVMQELQ DMFPEEFDKT SFHKVRHSED MQFAFSYFYY
1010 1020 1030 1040 1050
LMSAVQPLNI SQVFDEVDTD QSGVLSDREI RTLATRIHEL PLSLQDLTGL
1060 1070 1080 1090 1100
EHMLINCSKM LPADITQLNN IPPTQESYYD PNLPPVTKSL VTNCKPVTDK
1110 1120 1130 1140 1150
IHKAYKDKNK YRFEIMGEEE IAFKMIRTNV SHVVGQLDDI RKNPRKFVCL
1160 1170 1180 1190 1200
NDNIDHNHKD AQTVKAVLRD FYESMFPIPS QFELPREYRN RFLHMHELQE
1210 1220 1230 1240 1250
WRAYRDKLKF WTHCVLATLI MFTIFSFFAE QLIALKRKIF PRRRIHKEAS

PNRIRV
Length:1,256
Mass (Da):143,622
Last modified:October 11, 2005 - v1
Checksum:i8B861154C516943E
GO
Isoform 2 (identifier: Q3T906-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     471-490: NSGGSRYIAGGGGTGSIGVG → KDVLNCNSFIFMEYFLLNHY
     491-1256: Missing.

Show »
Length:490
Mass (Da):55,983
Checksum:i9223139711337ED0
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti392I → V in AAV98624 (PubMed:16120602).Curated1
Sequence conflicti901Q → L in AAV98624 (PubMed:16120602).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0275094K → Q in MLIIIA; also found in patients with intermediate phenotype between MLII and MLIIIA; no effect on protein abundance; decreased retention in the Golgi; mistargeted to lysosomes and plasma membrane; decreased UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity. 6 PublicationsCorresponds to variant rs34159654dbSNPEnsembl.1
Natural variantiVAR_07312415S → Y in MLIIIA; unknown pathological significance; no effect on protein abundance; decreased protein cleavage into alpha and beta subunits; decreased retention in the Golgi; mistargeted to lysosomes and plasma membrane; decreased UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity. 3 PublicationsCorresponds to variant rs281864947dbSNPEnsembl.1
Natural variantiVAR_07083181W → L in MLII; no effect on protein abundance; decreased localization to the Golgi; defects in protein cleavage into alpha and beta subunits; loss of UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity. 3 PublicationsCorresponds to variant rs281864953dbSNPEnsembl.1
Natural variantiVAR_073125182V → D in MLII; unknown pathological significance; decreased localization to the Golgi; decreased UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity. 2 PublicationsCorresponds to variant rs281864958dbSNPEnsembl.1
Natural variantiVAR_053545190D → V in MLIIIA; also found in patients with intermediate phenotype between MLII and MLIIIA; unknown pathological significance; no effect on protein abundance; no effect on localization to the Golgi; no effect on protein cleavage into alpha and beta subunits; decreased UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity. 1 PublicationCorresponds to variant rs34946266dbSNPEnsembl.1
Natural variantiVAR_073126205Q → P in MLII; unknown pathological significance. 1 PublicationCorresponds to variant rs281864959dbSNPEnsembl.1
Natural variantiVAR_073127334R → L in MLII; no effect on protein abundance; loss of localization to the Golgi; loss of protein cleavage into alpha and beta subunits; loss of UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity. 2 PublicationsCorresponds to variant rs281864970dbSNPEnsembl.1
Natural variantiVAR_073128334R → Q in MLIIIA; no effect on protein abundance; loss of localization to the Golgi; loss of protein cleavage into alpha and beta subunits; loss of UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity. 2 PublicationsCorresponds to variant rs281864970dbSNPEnsembl.1
Natural variantiVAR_027510348I → L in MLII; unknown pathological significance; no effect on protein abundance; no effect on localization to the Golgi; no effect on protein cleavage into alpha and beta subunits; decreased UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity. 2 PublicationsCorresponds to variant rs7958709dbSNPEnsembl.1
Natural variantiVAR_062807374F → L in MLII and MLIIIA; no effect on protein abundance; no effect on localization to the Golgi; loss of UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity. 2 PublicationsCorresponds to variant rs137852900dbSNPEnsembl.1
Natural variantiVAR_062808399S → F in MLIIIA; no effect on protein abundance; loss of localization to the Golgi; defects in protein cleavage into alpha and beta subunits; decreased UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity. 6 PublicationsCorresponds to variant rs281865026dbSNPEnsembl.1
Natural variantiVAR_062809403I → T in MLIIIA; loss of localization to the Golgi; loss of protein cleavage into alpha and beta subunits; decreased UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity. 4 PublicationsCorresponds to variant rs281864973dbSNPEnsembl.1
Natural variantiVAR_025416407D → A in MLIIIA; no effect on protein abundance; no effect on localization to the Golgi; no effect on protein cleavage into alpha and beta subunits; decreased UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity. 2 PublicationsCorresponds to variant rs137852895dbSNPEnsembl.1
Natural variantiVAR_062810442C → Y in MLIIIA; no effect on localization to the Golgi; no effect on protein cleavage into alpha and beta subunits; loss of UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity toward some substrates. 2 PublicationsCorresponds to variant rs281864975dbSNPEnsembl.1
Natural variantiVAR_073219455A → S Rare variant; found in individuals suffering from stuttering; unknown pathological significance. 1 PublicationCorresponds to variant rs137853822dbSNPEnsembl.1
Natural variantiVAR_062811461C → G in MLIIIA; no effect on protein abundance; no effect on localization to the Golgi; no effect on protein cleavage into alpha and beta subunits; loss of UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity toward some substrates. 2 PublicationsCorresponds to variant rs281864977dbSNPEnsembl.1
Natural variantiVAR_073129468C → S in MLIIIA; patients with intermediate phenotype between MLII and MLIIIA; no effect on protein abundance; no effect on localization to the Golgi; no effect on protein cleavage into alpha and beta subunits; loss of UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity toward some substrates. 2 PublicationsCorresponds to variant rs281864979dbSNPEnsembl.1
Natural variantiVAR_070832505C → Y in MLIIIA; unknown pathological significance; decreased localization to the Golgi; decreased protein cleavage into alpha and beta subunits; decreased UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity; reduces protein abundance. 4 PublicationsCorresponds to variant rs281864980dbSNPEnsembl.1
Natural variantiVAR_073130523C → R Found in a patient with mucolipidosis type II or III; unknown pathological significance; decreased localization to the Golgi; decreased protein cleavage into alpha and beta subunits; decreased UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity. 2 Publications1
Natural variantiVAR_074206575G → R in MLIIIA; significantly reduces protein cleavage into alpha and beta subunits; reduces protein abundance; significantly decreased localization to the Golgi; significantly reduces UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase. 1 Publication1
Natural variantiVAR_073131587R → P in MLIIIA; decreased localization to the Golgi; decreased UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity. 2 Publications1
Natural variantiVAR_073132592A → T Found in a patient with mucolipidosis type II or III; unknown pathological significance; decreased localization to the Golgi; decreased UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity. 2 PublicationsCorresponds to variant rs149390820dbSNPEnsembl.1
Natural variantiVAR_073220625F → L Rare variant; found in individuals suffering from stuttering; unknown pathological significance. 1 PublicationCorresponds to variant rs137853823dbSNPEnsembl.1
Natural variantiVAR_074207644T → M in MLIIIA; reduces protein cleavage into alpha and beta subunits; reduces protein abundance; no effect on subcellular location in Golgi apparatus; mildly affects UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase. 1 PublicationCorresponds to variant rs386765812dbSNPEnsembl.1
Natural variantiVAR_025417662A → G.1 PublicationCorresponds to variant rs142172397dbSNPEnsembl.1
Natural variantiVAR_070833732K → N in MLII; no effect on localization to the Golgi; loss of UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity toward some substrates. 3 PublicationsCorresponds to variant rs281864989dbSNPEnsembl.1
Natural variantiVAR_073133785L → W Found in a patient with mucolipidosis type II or III; unknown pathological significance; no effect on localization to the Golgi; loss of UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity toward some substrates. 2 PublicationsCorresponds to variant rs144060383dbSNPEnsembl.1
Natural variantiVAR_062812926Q → P in MLIIIA; no effect on localization to the Golgi; loss of protein cleavage into alpha and beta subunits; loss of UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity. 2 PublicationsCorresponds to variant rs281865002dbSNPEnsembl.1
Natural variantiVAR_073134928K → R in MLII; unknown pathological significance. 1 PublicationCorresponds to variant rs281865003dbSNPEnsembl.1
Natural variantiVAR_074208937 – 972Missing in MLII; abnormal protein cleavage into alpha and beta subunits; no effect on protein abundance; significantly decreased localization to the Golgi; loss of UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase. 1 PublicationAdd BLAST36
Natural variantiVAR_073135955A → V in MLII; unknown pathological significance; no effect on protein abundance; no effect on localization to the Golgi; decreased UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity. 2 PublicationsCorresponds to variant rs138390866dbSNPEnsembl.1
Natural variantiVAR_073136956H → R in MLIIIA; unknown pathological significance. 1 PublicationCorresponds to variant rs281865005dbSNPEnsembl.1
Natural variantiVAR_062813956H → Y in MLIIIA; no effect on protein abundance; no effect on localization to the Golgi. 2 PublicationsCorresponds to variant rs281865004dbSNPEnsembl.1
Natural variantiVAR_070834986R → C in MLII; decreased protein abundance; no effect on localization to the Golgi; no effect on protein cleavage into alpha and beta subunits; loss of UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity. 4 PublicationsCorresponds to variant rs769587233dbSNPEnsembl.1
Natural variantiVAR_0628141001L → P in MLII; no effect on protein abundance; decreased localization to the Golgi; decreased UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity. 2 PublicationsCorresponds to variant rs281865006dbSNPEnsembl.1
Natural variantiVAR_0731371018D → G in MLIIIA; patients with intermediate phenotype between MLII and MLIIIA; unknown pathological significance; no effect on protein abundance; decreased localization to the Golgi; loss of UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity. 2 PublicationsCorresponds to variant rs281865007dbSNPEnsembl.1
Natural variantiVAR_0731381054L → V in MLII; unknown pathological significance; no effect on localization to the Golgi; decreased UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity. 2 PublicationsCorresponds to variant rs281865010dbSNPEnsembl.1
Natural variantiVAR_0628151153N → S in MLIIIA; no effect on protein abundance; no effect on localization to the Golgi; loss of UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity. 2 PublicationsCorresponds to variant rs281865019dbSNPEnsembl.1
Natural variantiVAR_0732211200E → K Polymorphism; may be a risk factor for stuttering. 2 PublicationsCorresponds to variant rs137853825dbSNPEnsembl.1
Natural variantiVAR_0742091223Missing in MLIIIA; no effect on protein cleavage into alpha and beta subunits; no effect on protein abundance; no effect on subcellular location in cis-Golgi apparatus; slightly affects UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity. 1 Publication1
Natural variantiVAR_0275111236K → M in MLII; decreased protein abundance; no effect on localization to the Golgi; does not suppress protein cleavage into alpha and beta subunits; decreased UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity. 3 Publications1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_017338471 – 490NSGGS…SIGVG → KDVLNCNSFIFMEYFLLNHY in isoform 2. 1 PublicationAdd BLAST20
Alternative sequenceiVSP_017339491 – 1256Missing in isoform 2. 1 PublicationAdd BLAST766

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AM085438 mRNA. Translation: CAJ30014.1.
AY687932 mRNA. Translation: AAV98624.1.
BC071687 mRNA. Translation: AAH71687.1.
BC042615 mRNA. Translation: AAH42615.1.
BC131787 mRNA. Translation: AAI31788.1.
AK056137 mRNA. Translation: BAB71102.1.
AB033034 mRNA. Translation: BAA86522.2.
CCDSiCCDS9088.1. [Q3T906-1]
RefSeqiNP_077288.2. NM_024312.4. [Q3T906-1]
UniGeneiHs.46850.

Genome annotation databases

EnsembliENST00000299314; ENSP00000299314; ENSG00000111670. [Q3T906-1]
ENST00000549940; ENSP00000449150; ENSG00000111670. [Q3T906-2]
GeneIDi79158.
KEGGihsa:79158.
UCSCiuc001tit.4. human. [Q3T906-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AM085438 mRNA. Translation: CAJ30014.1.
AY687932 mRNA. Translation: AAV98624.1.
BC071687 mRNA. Translation: AAH71687.1.
BC042615 mRNA. Translation: AAH42615.1.
BC131787 mRNA. Translation: AAI31788.1.
AK056137 mRNA. Translation: BAB71102.1.
AB033034 mRNA. Translation: BAA86522.2.
CCDSiCCDS9088.1. [Q3T906-1]
RefSeqiNP_077288.2. NM_024312.4. [Q3T906-1]
UniGeneiHs.46850.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2N6DNMR-A135-305[»]
ProteinModelPortaliQ3T906.
SMRiQ3T906.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi122576. 25 interactors.
IntActiQ3T906. 14 interactors.
STRINGi9606.ENSP00000299314.

PTM databases

iPTMnetiQ3T906.
PhosphoSitePlusiQ3T906.

Polymorphism and mutation databases

BioMutaiGNPTAB.
DMDMi90185244.

Proteomic databases

EPDiQ3T906.
MaxQBiQ3T906.
PaxDbiQ3T906.
PeptideAtlasiQ3T906.
PRIDEiQ3T906.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000299314; ENSP00000299314; ENSG00000111670. [Q3T906-1]
ENST00000549940; ENSP00000449150; ENSG00000111670. [Q3T906-2]
GeneIDi79158.
KEGGihsa:79158.
UCSCiuc001tit.4. human. [Q3T906-1]

Organism-specific databases

CTDi79158.
DisGeNETi79158.
GeneCardsiGNPTAB.
GeneReviewsiGNPTAB.
HGNCiHGNC:29670. GNPTAB.
HPAiHPA042343.
MalaCardsiGNPTAB.
MIMi252500. phenotype.
252600. phenotype.
607840. gene.
neXtProtiNX_Q3T906.
OpenTargetsiENSG00000111670.
Orphaneti576. Mucolipidosis type 2.
577. Mucolipidosis type 3.
PharmGKBiPA128394710.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IEF9. Eukaryota.
ENOG410XYNB. LUCA.
GeneTreeiENSGT00390000006747.
HOVERGENiHBG057712.
InParanoidiQ3T906.
KOiK08239.
OMAiMFPEEFD.
OrthoDBiEOG091G0C78.
PhylomeDBiQ3T906.
TreeFamiTF324175.

Enzyme and pathway databases

BioCyciZFISH:HS03442-MONOMER.
BRENDAi2.7.8.17. 2681.

Miscellaneous databases

ChiTaRSiGNPTAB. human.
GenomeRNAii79158.
PROiQ3T906.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000111670.
CleanExiHS_GNPTAB.
ExpressionAtlasiQ3T906. baseline and differential.
GenevisibleiQ3T906. HS.

Family and domain databases

InterProiIPR010506. DMAP1-bd.
IPR018247. EF_Hand_1_Ca_BS.
IPR002048. EF_hand_dom.
IPR000800. Notch_dom.
IPR031358. Stealth_CR1.
IPR021520. Stealth_CR2.
IPR031357. Stealth_CR3.
IPR031356. Stealth_CR4.
[Graphical view]
PfamiPF06464. DMAP_binding. 1 hit.
PF00066. Notch. 2 hits.
PF17101. Stealth_CR1. 1 hit.
PF11380. Stealth_CR2. 1 hit.
PF17102. Stealth_CR3. 1 hit.
PF17103. Stealth_CR4. 1 hit.
[Graphical view]
SMARTiSM01137. DMAP_binding. 1 hit.
SM00004. NL. 2 hits.
[Graphical view]
SUPFAMiSSF90193. SSF90193. 1 hit.
PROSITEiPS00018. EF_HAND_1. 1 hit.
PS50222. EF_HAND_2. 1 hit.
PS50258. LNR. 2 hits.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiGNPTA_HUMAN
AccessioniPrimary (citable) accession number: Q3T906
Secondary accession number(s): A2RRQ9
, Q3ZQK2, Q6IPW5, Q86TQ2, Q96N13, Q9ULL2
Entry historyi
Integrated into UniProtKB/Swiss-Prot: March 7, 2006
Last sequence update: October 11, 2005
Last modified: November 30, 2016
This is version 112 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

Miscellaneousi

Miscellaneous

Due to the low pH in the endosomal/prelysosomal compartment, the lysosomal enzyme-MPR complex dissociates and then the enzyme is delivered to the lysosome. Between 5% and 20% of newly synthesized lysosomal enzymes escape the binding to the MPR in the Golgi apparatus and are secreted.
Stealth proteins are part of a protein family that is conserved from bacteria to higher eukaryotes. Family members were first identified in microbes as proteins that help pathogens to elude the host innate immune system. Microbial stealth proteins are most likely involved in the biosynthesis of exopolysaccharides. Stealth proteins are predicted to function as hexose-1-phosphoryltransferases.

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 12
    Human chromosome 12: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.