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    MANEAL mannosidase endo-alpha like [ Homo sapiens (human) ]

    Gene ID: 149175, updated on 27-Nov-2024

    Summary

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    Official Symbol
    MANEALprovided by HGNC
    Official Full Name
    mannosidase endo-alpha likeprovided by HGNC
    Primary source
    HGNC:HGNC:26452
    See related
    Ensembl:ENSG00000185090 MIM:620919; AllianceGenome:HGNC:26452
    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
    Summary
    Predicted to enable alpha-mannosidase activity. Predicted to be located in Golgi membrane. Predicted to be active in Golgi apparatus. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in brain (RPKM 5.9), thyroid (RPKM 2.3) and 21 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See MANEAL in Genome Data Viewer
    Location:
    1p34.3
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (37793847..37801133)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (37660740..37668025)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (38259519..38266805)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene valosin containing protein lysine methyltransferase pseudogene Neighboring gene actinin alpha 4 pseudogene 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 678 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 679 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 680 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 681 Neighboring gene yrdC N6-threonylcarbamoyltransferase domain containing Neighboring gene chromosome 1 open reading frame 122 Neighboring gene metal regulatory transcription factor 1 Neighboring gene ribosomal protein S2 pseudogene 13

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. Coexisting variants in OSTM1 and MANEAL cause a complex neurodegenerative disorder with NBIA-like brain abnormalities. Herebian D, et al. Eur J Hum Genet, 2017 Sep. PMID 28612835, Free PMC Article
    2. The DNA sequence and biological annotation of human chromosome 1. Gregory SG, et al. Nature, 2006 May 18. PMID 16710414
    3. ESCPE-1 mediates retrograde endosomal sorting of the SARS-CoV-2 host factor Neuropilin-1. Simonetti B, et al. Proc Natl Acad Sci U S A, 2022 Jun 21. PMID 35696571, Free PMC Article
    4. The BioPlex Network: A Systematic Exploration of the Human Interactome. Huttlin EL, et al. Cell, 2015 Jul 16. PMID 26186194, Free PMC Article
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. Ota T, et al. Nat Genet, 2004 Jan. PMID 14702039

    See all (10) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Loss-of-function variant in MANEAL, coexisting with OSTM1 mutation was identified in a patient with neurological disorder with brain iron accumulation.
      Title: Coexisting variants in OSTM1 and MANEAL cause a complex neurodegenerative disorder with NBIA-like brain abnormalities.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ31434, MGC78681

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables alpha-mannosidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in Golgi membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    glycoprotein endo-alpha-1,2-mannosidase-like protein
    NP_001026910.1
    NP_001106954.1
    NP_689709.1
    XP_005270567.1
    XP_054190612.1

    NCBI Reference Sequences (RefSeq)

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    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_001031740.3 → NP_001026910.1  glycoprotein endo-alpha-1,2-mannosidase-like protein isoform 1

      See identical proteins and their annotated locations for NP_001026910.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) uses an alternate frame-shifting splice site in the 3' terminal exon, compared to variant 3. This difference results in a protein (isoform 1) with a shorter, distinct C-terminus compared to isoform 3.
      Source sequence(s)
      AK055996, AL929472, BC077730
      Consensus CDS
      CCDS44111.1
      UniProtKB/Swiss-Prot
      Q5VSG8
      Related
      ENSP00000380755.3, ENST00000397631.7
      Conserved Domains (1) summary
      cl01529
      Location:105 → 249
      GH99_GH71_like; Glycoside hydrolase families 71, 99, and related domains

    2. NM_001113482.2 → NP_001106954.1  glycoprotein endo-alpha-1,2-mannosidase-like protein isoform 3

      See identical proteins and their annotated locations for NP_001106954.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) represents the longest transcript and encodes the longest isoform (3).
      Source sequence(s)
      AL929472, BC063587, BC077730
      Consensus CDS
      CCDS44110.1
      UniProtKB/Swiss-Prot
      Q5VSG8, Q6DD86, Q6P497, Q8N5P8, Q96G55, Q96N42
      Related
      ENSP00000362136.6, ENST00000373045.11
      Conserved Domains (1) summary
      cd11574
      Location:105 → 446
      GH99; Glycoside hydrolase family 99, an endo-alpha-1,2-mannosidase

    3. NM_152496.3 → NP_689709.1  glycoprotein endo-alpha-1,2-mannosidase-like protein isoform 2

      See identical proteins and their annotated locations for NP_689709.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and has multiple coding region differences, compared to variant 3. These differences cause translation initiation at a downstream ATG and an isoform (2) with a shorter N-terminus, compared to isoform 3.
      Source sequence(s)
      AK055996
      Consensus CDS
      CCDS426.1
      UniProtKB/TrEMBL
      B4DW72
      Related
      ENSP00000328770.5, ENST00000329006.5
      Conserved Domains (1) summary
      cd11574
      Location:24 → 224
      GH99; Glycoside hydrolase family 99, an endo-alpha-1,2-mannosidase

    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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      37793847..37801133
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005270510.4 → XP_005270567.1  glycoprotein endo-alpha-1,2-mannosidase-like protein isoform X1

      Conserved Domains (1) summary
      cd11574
      Location:105 → 328
      GH99; Glycoside hydrolase family 99, an endo-alpha-1,2-mannosidase

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      37660740..37668025
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054334637.1 → XP_054190612.1  glycoprotein endo-alpha-1,2-mannosidase-like protein isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5VSG8.1 GenPept UniProtKB/Swiss-Prot:Q5VSG8

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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