Gene Gene information from NCBI Gene database.
Entrez ID 4121
Gene name Mannosidase alpha class 1A member 1
Gene symbol MAN1A1
Synonyms (NCBI Gene)
HUMM3HUMM9MAN9
Chromosome 6
Chromosome location 6q22.31
Summary This gene encodes a class I mammalian Golgi 1,2-mannosidase which is a type II transmembrane protein. This protein catalyzes the hydrolysis of three terminal mannose residues from peptide-bound Man(9)-GlcNAc(2) oligosaccharides and belongs to family 47 of
miRNA miRNA information provided by mirtarbase database.
238
miRTarBase ID miRNA Experiments Reference
MIRT017036 hsa-miR-335-5p Microarray 18185580
MIRT1127008 hsa-miR-1284 CLIP-seq
MIRT1127009 hsa-miR-300 CLIP-seq
MIRT1127010 hsa-miR-3125 CLIP-seq
MIRT1127011 hsa-miR-3148 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
32
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane IBA
GO:0000139 Component Golgi membrane IEA
GO:0000139 Component Golgi membrane TAS
GO:0004571 Function Mannosyl-oligosaccharide 1,2-alpha-mannosidase activity IBA
GO:0004571 Function Mannosyl-oligosaccharide 1,2-alpha-mannosidase activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
604344 6821 ENSG00000111885
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P33908
Protein name Mannosyl-oligosaccharide 1,2-alpha-mannosidase IA (EC 3.2.1.113) (Man(9)-alpha-mannosidase) (Man9-mannosidase) (Mannosidase alpha class 1A member 1) (Processing alpha-1,2-mannosidase IA) (Alpha-1,2-mannosidase IA)
Protein function Involved in the maturation of Asn-linked oligosaccharides. Progressively trim alpha-1,2-linked mannose residues from Man(9)GlcNAc(2) to produce Man(5)GlcNAc(2).
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01532 Glyco_hydro_47 202 640 Glycosyl hydrolase family 47 Domain
Sequence
Sequence length 653
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  N-Glycan biosynthesis
Various types of N-glycan biosynthesis
Metabolic pathways
Protein processing in endoplasmic reticulum
  Intra-Golgi traffic
Progressive trimming of alpha-1,2-linked mannose residues from Man9/8/7GlcNAc2 to produce Man5GlcNAc2
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
6
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
CIRRHOSIS OF LIVER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
NEUROTIC DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SYSTEMIC LUPUS ERYTHEMATOSUS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Breast Neoplasms Associate 29381688, 31659304
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Stimulate 35798319
★☆☆☆☆
Found in Text Mining only
Cholangiocarcinoma Associate 29915392
★☆☆☆☆
Found in Text Mining only
Cognition Disorders Associate 35954202
★☆☆☆☆
Found in Text Mining only
Cystic Fibrosis Associate 35954202
★☆☆☆☆
Found in Text Mining only
Exocrine Pancreatic Insufficiency Associate 35954202
★☆☆☆☆
Found in Text Mining only
Glioma Associate 35798319
★☆☆☆☆
Found in Text Mining only
Hypoxia Brain Associate 39337702
★☆☆☆☆
Found in Text Mining only
Muscular Dystrophy Duchenne Associate 36935420
★☆☆☆☆
Found in Text Mining only
Neoplasm Metastasis Inhibit 29381688
★☆☆☆☆
Found in Text Mining only