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    MAN2C1 mannosidase alpha class 2C member 1 [ Homo sapiens (human) ]

    Gene ID: 4123, updated on 9-Dec-2024

    Summary

    Official Symbol
    MAN2C1provided by HGNC
    Official Full Name
    mannosidase alpha class 2C member 1provided by HGNC
    Primary source
    HGNC:HGNC:6827
    See related
    Ensembl:ENSG00000140400 MIM:154580; AllianceGenome:HGNC:6827
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    MANA; CDDG2; MANA1; MAN6A8
    Summary
    Predicted to enable alpha-mannosidase activity. Predicted to be involved in oligosaccharide catabolic process. Located in nucleoplasm. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in fat (RPKM 23.4), ovary (RPKM 23.0) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See MAN2C1 in Genome Data Viewer
    Location:
    15q24.2
    Exon count:
    26
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (75355792..75368607, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (73225866..73238703, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (75648133..75660948, complement)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9848 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9849 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6666 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9850 Neighboring gene Sharpr-MPRA regulatory region 1822 Neighboring gene COMM domain containing 4 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6667 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:75660721-75661253 Neighboring gene nei like DNA glycosylase 1 Neighboring gene microRNA 631 Neighboring gene SIN3 transcription regulator family member A Neighboring gene ribosomal protein L13 pseudogene 4 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6668 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:75742449-75743368 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6670 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9853 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:75744915-75745446 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:75745447-75745979 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9855 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9856 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6671 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9857 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6672 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9858 Neighboring gene Sharpr-MPRA regulatory region 2587 Neighboring gene uncharacterized LOC105370902 Neighboring gene protein tyrosine phosphatase non-receptor type 9

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env Specific alterations of the N-linked carbohydrates on HIV-1 gp120 and gp41 by glucosidases and mannosidase inhibitors can enhance mannose-binding lectin (MBL)-mediated neutralization of virus by strengthening the interaction of HIV-1 with MBL PubMed
    env HIV-1 gp120 N-linked oligosaccharides are processed by manosidase I and II in the Golgi complex PubMed
    Envelope surface glycoprotein gp160, precursor env Oligosaccharide side-chains of HIV-1 gp160 are processed by glycosidase I and II, mannosidase I and II, acetylglucosaminyl transferase I and II, and fucosyl, galactosyl and sialyl transferases in both the endoplasmic reticulum and golgi apparatus PubMed
    Envelope transmembrane glycoprotein gp41 env Mannose-containing, N-linked oligosaccharide side-chains of HIV-1 gp41 are involved in the initial stage of infection by HIV-1; glycosylation inhibitors block virus-cell and cell-cell fusion and release of the virions PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC87979, DKFZp686E23167

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables alpha-mannosidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables carbohydrate binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in mannose metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in oligosaccharide catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     

    General protein information

    Preferred Names
    alpha-mannosidase 2C1
    Names
    alpha mannosidase 6A8B
    alpha-D-mannoside mannohydrolase
    cytosolic alpha-mannosidase
    mannosidase, alpha 6A8
    mannosidase, alpha A, cytoplasmic
    testicular tissue protein Li 115
    NP_001243423.1
    NP_001243424.1
    NP_001243425.1
    NP_006706.2

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001256494.2NP_001243423.1  alpha-mannosidase 2C1 isoform 2

      See identical proteins and their annotated locations for NP_001243423.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses two alternate splice sites in the 3' coding region, compared to variant 1. This results in a shorter protein (isoform 2), compared to isoform 1. Isoform 2 also contains a short frame-shifted region compared to isoform 1.
      Source sequence(s)
      BC038594, DC396372
      Consensus CDS
      CCDS58391.1
      UniProtKB/Swiss-Prot
      Q9NTJ4
      Related
      ENSP00000457788.1, ENST00000565683.5
      Conserved Domains (4) summary
      cd10813
      Location:252503
      GH38N_AMII_Man2C1; N-terminal catalytic domain of mammalian cytosolic alpha-mannosidase Man2C1 and similar proteins; glycoside hydrolase family 38 (GH38)
      COG0383
      Location:681026
      AMS1; Alpha-mannosidase [Carbohydrate transport and metabolism]
      pfam07748
      Location:7001043
      Glyco_hydro_38C; Glycosyl hydrolases family 38 C-terminal domain
      pfam09261
      Location:517596
      Alpha-mann_mid; Alpha mannosidase, middle domain
    2. NM_001256495.2NP_001243424.1  alpha-mannosidase 2C1 isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) uses an alternate in-frame splice site in the 3' coding region, compared to variant 1. This results in a shorter protein (isoform 3), compared to isoform 1.
      Source sequence(s)
      BC050550, BC080191, DC342919
      Consensus CDS
      CCDS58390.1
      UniProtKB/Swiss-Prot
      Q9NTJ4
      Related
      ENSP00000455998.1, ENST00000569482.5
      Conserved Domains (4) summary
      cd10813
      Location:252503
      GH38N_AMII_Man2C1; N-terminal catalytic domain of mammalian cytosolic alpha-mannosidase Man2C1 and similar proteins; glycoside hydrolase family 38 (GH38)
      COG0383
      Location:68986
      AMS1; Alpha-mannosidase [Carbohydrate transport and metabolism]
      pfam07748
      Location:6221003
      Glyco_hydro_38C; Glycosyl hydrolases family 38 C-terminal domain
      pfam09261
      Location:517596
      Alpha-mann_mid; Alpha mannosidase, middle domain
    3. NM_001256496.2NP_001243425.1  alpha-mannosidase 2C1 isoform 4

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) lacks two exons in the 5' coding region, compared to variant 1. This results in a shorter protein (isoform 4), compared to isoform 1.
      Source sequence(s)
      AK225145, BC050550, DC342919
      Consensus CDS
      CCDS58389.1
      UniProtKB/Swiss-Prot
      Q9NTJ4
      Related
      ENSP00000454589.1, ENST00000563622.5
      Conserved Domains (4) summary
      COG0383
      Location:200910
      AMS1; Alpha-mannosidase [Carbohydrate transport and metabolism]
      pfam07748
      Location:523927
      Glyco_hydro_38C; Glycosyl hydrolases family 38 C-terminal domain
      pfam09261
      Location:418497
      Alpha-mann_mid; Alpha mannosidase, middle domain
      cl15692
      Location:199404
      CE4_SF; Catalytic NodB homology domain of the carbohydrate esterase 4 superfamily
    4. NM_006715.4NP_006706.2  alpha-mannosidase 2C1 isoform 1

      See identical proteins and their annotated locations for NP_006706.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes isoform 1.
      Source sequence(s)
      BC050550, DC342919
      Consensus CDS
      CCDS32298.1
      UniProtKB/Swiss-Prot
      H3BMX2, H3BQY8, H3BUT6, Q13358, Q68EM8, Q9NTJ4, Q9UL64
      UniProtKB/TrEMBL
      A0A140VJN9
      Related
      ENSP00000267978.4, ENST00000267978.10
      Conserved Domains (2) summary
      cd10813
      Location:252503
      GH38N_AMII_Man2C1; N-terminal catalytic domain of mammalian cytosolic alpha-mannosidase Man2C1 and similar proteins; glycoside hydrolase family 38 (GH38)
      COG0383
      Location:681009
      AMS1; Alpha-mannosidase [Carbohydrate transport and metabolism]

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000015.10 Reference GRCh38.p14 Primary Assembly

      Range
      75355792..75368607 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060939.1 Alternate T2T-CHM13v2.0

      Range
      73225866..73238703 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)