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

Gene ID: 4123, updated on 21-Apr-2019

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
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; MANA1; MAN6A8
Expression
Ubiquitous expression in fat (RPKM 23.4), ovary (RPKM 23.0) and 25 other tissues See more
Orthologs

Genomic context

See MAN2C1 in Genome Data Viewer
Location:
15q24.2
Exon count:
25
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 15 NC_000015.10 (75354326..75368680, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (75648133..75661455, complement)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene COMM domain containing 4 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 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 FunctionsWhat'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 BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC87979, DKFZp686E23167

Gene Ontology Provided by GOA

Function Evidence Code Pubs
carbohydrate binding IEA
Inferred from Electronic Annotation
more info
 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
mannose metabolic process IEA
Inferred from Electronic Annotation
more info
 
oligosaccharide catabolic process TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
cytosol TAS
Traceable Author Statement
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
alpha-mannosidase 2C1
Names
alpha mannosidase 6A8B
alpha-D-mannoside mannohydrolase
mannosidase, alpha 6A8
mannosidase, alpha A, cytoplasmic
testicular tissue protein Li 115
NP_001243423.1
NP_001243424.1
NP_001243425.1
NP_006706.2
XP_005254441.1
XP_016877675.1
XP_016877676.1
XP_016877677.1

NCBI Reference Sequences (RefSeq)

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_001256494.1NP_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_001256495.1NP_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_001256496.1NP_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
    Q9NTJ4
    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: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p12 Primary Assembly

    Range
    75354326..75368680 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017022187.1XP_016877676.1  alpha-mannosidase 2C1 isoform X3

  2. XM_017022186.1XP_016877675.1  alpha-mannosidase 2C1 isoform X1

  3. XM_017022188.2XP_016877677.1  alpha-mannosidase 2C1 isoform X4

  4. XM_005254384.3XP_005254441.1  alpha-mannosidase 2C1 isoform X2

    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:681017
    AMS1; Alpha-mannosidase [Carbohydrate transport and metabolism]
    pfam07748
    Location:6221034
    Glyco_hydro_38C; Glycosyl hydrolases family 38 C-terminal domain
    pfam09261
    Location:517596
    Alpha-mann_mid; Alpha mannosidase, middle domain

RNA

  1. XR_002957639.1 RNA Sequence

  2. XR_001751283.1 RNA Sequence

  3. XR_001751284.1 RNA Sequence

  4. XR_002957638.1 RNA Sequence

  5. XR_001751282.1 RNA Sequence

  6. XR_001751287.1 RNA Sequence

  7. XR_001751285.1 RNA Sequence

  8. XR_001751286.1 RNA Sequence

  9. XR_001751288.1 RNA Sequence

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