POMGNT1

Human gene
POMGNT1
Identifiers
AliasesPOMGNT1, GNTI.2, GnT I.2, LGMD2O, MEB, MGAT1.2, gnT-I.2, protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-), RP76, LGMDR15
External IDsOMIM: 606822; MGI: 1915523; HomoloGene: 9806; GeneCards: POMGNT1; OMA:POMGNT1 - orthologs
Gene location (Human)
Chromosome 1 (human)
Chr.Chromosome 1 (human)[1]
Chromosome 1 (human)
Genomic location for POMGNT1
Genomic location for POMGNT1
Band1p34.1Start46,188,683 bp[1]
End46,220,305 bp[1]
Gene location (Mouse)
Chromosome 4 (mouse)
Chr.Chromosome 4 (mouse)[2]
Chromosome 4 (mouse)
Genomic location for POMGNT1
Genomic location for POMGNT1
Band4|4 D1Start115,981,037 bp[2]
End116,017,046 bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • apex of heart

  • C1 segment

  • anterior pituitary

  • left ventricle

  • right lobe of thyroid gland

  • left lobe of thyroid gland

  • right frontal lobe

  • gastrocnemius muscle

  • right auricle

  • nucleus accumbens
Top expressed in
  • lacrimal gland

  • spermatid

  • spermatocyte

  • choroid plexus of fourth ventricle

  • salivary gland

  • Epithelium of choroid plexus

  • submandibular gland

  • parotid gland

  • seminal vesicula

  • muscle of thigh
More reference expression data
BioGPS
More reference expression data
Gene ontology
Molecular function
  • transferase activity
  • protein binding
  • glycosyltransferase activity
  • beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity
  • acetylglucosaminyltransferase activity
  • manganese ion binding
  • metal ion binding
Cellular component
  • Golgi apparatus
  • membrane
  • Golgi membrane
  • integral component of membrane
  • integral component of Golgi membrane
Biological process
  • protein glycosylation
  • protein O-linked glycosylation
  • O-glycan processing
Sources:Amigo / QuickGO
Orthologs
SpeciesHumanMouse
Entrez

55624

68273

Ensembl

ENSG00000085998

ENSMUSG00000028700

UniProt

Q8WZA1

Q91X88

RefSeq (mRNA)

NM_001243766
NM_001290129
NM_001290130
NM_017739

NM_001290658
NM_026651
NM_029786

RefSeq (protein)

NP_001230695
NP_001277058
NP_001277059
NP_060209

NP_001277587
NP_080927
NP_084062

Location (UCSC)Chr 1: 46.19 – 46.22 MbChr 4: 115.98 – 116.02 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1 is an enzyme that in humans is encoded by the POMGNT1 gene.[5][6]

Function and expression

The product of the POMGNT1 gene, protein O-mannose beta-1,2-N-acetylglucosaminyltransferase (POMGnT1), participates in O-mannosyl glycan synthesis. A mutation in this gene is the cause of muscle-eye-brain disease (MIM 253280).[7]

Transcription of the POMGNT1 gene gives rise to a 2.7 kb mRNA in different tissues, with higher expression levels in the skeletal muscle, heart, and kidney and lower levels in the brain.[8] POMGnT1 (EC 2.4.1.101) is a protein belonging to the GT13 family of glycosyltransferases according to the Carbohydrate-Active enZYmes (CAZy) database.[9] In humans, the main isoform of POMGnT1 contains 660 amino acids whose sequence yields a calculated molecular mass of 75,252 Da (UniProtKB Q8WZA1).

The POMGNT1 mRNA and its encoded protein is expressed in the neural retina of all mammals studied. POMGnT1 locates in the cytoplasmic fraction in the mouse retina, where it concentrates in the Golgi complex within the myoid of photoreceptor inner segments.[10]

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000085998 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000028700 – Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Zhang W, Betel D, Schachter H (January 2002). "Cloning and expression of a novel UDP-GlcNAc:alpha-D-mannoside beta1,2-N-acetylglucosaminyltransferase homologous to UDP-GlcNAc:alpha-3-D-mannoside beta1,2-N-acetylglucosaminyltransferase I". The Biochemical Journal. 361 (Pt 1): 153–62. doi:10.1042/0264-6021:3610153. PMC 1222290. PMID 11742540.
  6. ^ "Entrez Gene: POMGNT1 protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase".
  7. ^ "OMIM Entry - # 253280 - MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3; MDDGA3". www.omim.org. Retrieved 2016-04-26.
  8. ^ Yoshida A, Kobayashi K, Manya H, Taniguchi K, Kano H, Mizuno M, et al. (November 2001). "Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1". Developmental Cell. 1 (5): 717–24. doi:10.1016/s1534-5807(01)00070-3. PMID 11709191.
  9. ^ Lombard V, Golaconda Ramulu H, Drula E, Coutinho PM, Henrissat B (January 2014). "The carbohydrate-active enzymes database (CAZy) in 2013". Nucleic Acids Research. 42 (Database issue): D490-5. doi:10.1093/nar/gkt1178. PMC 3965031. PMID 24270786.
  10. ^ Uribe ML, Haro C, Ventero MP, Campello L, Cruces J, Martín-Nieto J (2016). "Expression pattern in retinal photoreceptors of POMGnT1, a protein involved in muscle-eye-brain disease". Molecular Vision. 22: 658–73. PMC 4911909. PMID 27375352.

Further reading

  • Maruyama K, Sugano S (January 1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–4. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.
  • Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, Suyama A, Sugano S (October 1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–56. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149.
  • Cormand B, Avela K, Pihko H, Santavuori P, Talim B, Topaloglu H, et al. (January 1999). "Assignment of the muscle-eye-brain disease gene to 1p32-p34 by linkage analysis and homozygosity mapping". American Journal of Human Genetics. 64 (1): 126–35. doi:10.1086/302206. PMC 1377710. PMID 9915951.
  • Dias Neto E, Correa RG, Verjovski-Almeida S, Briones MR, Nagai MA, da Silva W, et al. (March 2000). "Shotgun sequencing of the human transcriptome with ORF expressed sequence tags". Proceedings of the National Academy of Sciences of the United States of America. 97 (7): 3491–6. Bibcode:2000PNAS...97.3491D. doi:10.1073/pnas.97.7.3491. PMC 16267. PMID 10737800.
  • Yoshida A, Kobayashi K, Manya H, Taniguchi K, Kano H, Mizuno M, et al. (November 2001). "Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1". Developmental Cell. 1 (5): 717–24. doi:10.1016/S1534-5807(01)00070-3. PMID 11709191.
  • Triki C, Louhichi N, Méziou M, Choyakh F, Kéchaou MS, Jlidi R, et al. (January 2003). "Merosin-deficient congenital muscular dystrophy with mental retardation and cerebellar cysts, unlinked to the LAMA2, FCMD, MEB and CMD1B loci, in three Tunisian patients". Neuromuscular Disorders. 13 (1): 4–12. doi:10.1016/S0960-8966(02)00188-8. PMID 12467726. S2CID 24406933.
  • Taniguchi K, Kobayashi K, Saito K, Yamanouchi H, Ohnuma A, Hayashi YK, et al. (March 2003). "Worldwide distribution and broader clinical spectrum of muscle-eye-brain disease". Human Molecular Genetics. 12 (5): 527–34. doi:10.1093/hmg/ddg043. PMID 12588800.
  • Manya H, Sakai K, Kobayashi K, Taniguchi K, Kawakita M, Toda T, Endo T (June 2003). "Loss-of-function of an N-acetylglucosaminyltransferase, POMGnT1, in muscle-eye-brain disease". Biochemical and Biophysical Research Communications. 306 (1): 93–7. doi:10.1016/S0006-291X(03)00924-0. PMID 12788071.
  • Clark HF, Gurney AL, Abaya E, Baker K, Baldwin D, Brush J, et al. (October 2003). "The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment". Genome Research. 13 (10): 2265–70. doi:10.1101/gr.1293003. PMC 403697. PMID 12975309.
  • Akasaka-Manya K, Manya H, Kobayashi K, Toda T, Endo T (July 2004). "Structure-function analysis of human protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase 1, POMGnT1". Biochemical and Biophysical Research Communications. 320 (1): 39–44. doi:10.1016/j.bbrc.2004.05.129. PMID 15207699.
  • Vervoort VS, Holden KR, Ukadike KC, Collins JS, Saul RA, Srivastava AK (July 2004). "POMGnT1 gene alterations in a family with neurological abnormalities". Annals of Neurology. 56 (1): 143–8. doi:10.1002/ana.20172. PMID 15236414. S2CID 40752220.
  • Diesen C, Saarinen A, Pihko H, Rosenlew C, Cormand B, Dobyns WB, et al. (October 2004). "POMGnT1 mutation and phenotypic spectrum in muscle-eye-brain disease". Journal of Medical Genetics. 41 (10): e115. doi:10.1136/jmg.2004.020701. PMC 1735594. PMID 15466003.
  • Kimura K, Wakamatsu A, Suzuki Y, Ota T, Nishikawa T, Yamashita R, et al. (January 2006). "Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes". Genome Research. 16 (1): 55–65. doi:10.1101/gr.4039406. PMC 1356129. PMID 16344560.
  • Abbott KL, Troupe K, Lee I, Pierce M (September 2006). "Integrin-dependent neuroblastoma cell adhesion and migration on laminin is regulated by expression levels of two enzymes in the O-mannosyl-linked glycosylation pathway, PomGnT1 and GnT-Vb". Experimental Cell Research. 312 (15): 2837–50. doi:10.1016/j.yexcr.2006.05.022. PMID 16857188.
  • GeneReviews/NCBI/NIH/UW entry on Congenital Muscular Dystrophy Overview
  • Overview of all the structural information available in the PDB for UniProt: Q8WZA1 (Protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1) at the PDBe-KB.
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