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    MANBAL mannosidase beta like [ Homo sapiens (human) ]

    Gene ID: 63905, updated on 10-Dec-2024

    Summary

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    Official Symbol
    MANBALprovided by HGNC
    Official Full Name
    mannosidase beta likeprovided by HGNC
    Primary source
    HGNC:HGNC:15799
    See related
    Ensembl:ENSG00000101363 AllianceGenome:HGNC:15799
    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 be located in membrane. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in endometrium (RPKM 16.3), adrenal (RPKM 14.8) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See MANBAL in Genome Data Viewer
    Location:
    20q11.23
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (37289655..37317260)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (39013723..39041331)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (35918058..35945663)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene maestro heat like repeat family member 8 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:35807291-35807850 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:35807851-35808408 Neighboring gene Sharpr-MPRA regulatory region 9458 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:35821940-35822774 Neighboring gene ribophorin II Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:35858877-35859417 Neighboring gene ReSE screen-validated silencer GRCh37_chr20:35886402-35886635 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12886 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12887 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:35896280-35896826 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:35896827-35897374 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17832 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12888 Neighboring gene growth hormone releasing hormone Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17833 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:35918028-35918932 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17834 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:35943167-35944074 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:35944075-35944984 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:35947577-35948274 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:35964723-35965222 Neighboring gene uncharacterized LOC105372606 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:35968539-35969071 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17836 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17837 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12889 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:35975052-35975552 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17838 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17839 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:35987177-35987747 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17840 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17841 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17842 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17843 Neighboring gene SRC proto-oncogene, non-receptor tyrosine kinase Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17844 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12891 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:36019051-36019552 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:36022575-36023431 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:36023432-36024287 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:36024288-36025144 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:36025145-36026001 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:36026002-36026858

    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. Comparison of an expanded ataxia interactome with patient medical records reveals a relationship between macular degeneration and ataxia. Kahle JJ, et al. Hum Mol Genet, 2011 Feb 1. PMID 21078624, Free PMC Article
    2. TXLNA enhances TBK1 phosphorylation by suppressing PPM1B recruitment. Tian X, et al. Biochim Biophys Acta Mol Cell Res, 2023 Oct. PMID 37506885
    3. The DNA sequence and comparative analysis of human chromosome 20. Deloukas P, et al. Nature, 2001 Dec 20-27. PMID 11780052
    4. TNF-α inhibits glucocorticoid receptor-induced gene expression by reshaping the GR nuclear cofactor profile. Dendoncker K, et al. Proc Natl Acad Sci U S A, 2019 Jun 25. PMID 31182584, Free PMC Article
    5. Ubiquitin-mediated proteolysis of HuR by heat shock. Abdelmohsen K, et al. EMBO J, 2009 May 6. PMID 19322201, Free PMC Article

    See all (14) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    protein MANBAL
    Names
    mannosidase beta A like
    mannosidase, beta A, lysosomal-like

    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_001003897.2 → NP_001003897.1  protein MANBAL isoform a

      See identical proteins and their annotated locations for NP_001003897.1

      Status: VALIDATED

      Source sequence(s)
      AL034422
      Consensus CDS
      CCDS13293.1
      UniProtKB/Swiss-Prot
      A8KAA6, E1P5V3, Q9NQG1
      Related
      ENSP00000362708.3, ENST00000373606.8
      Conserved Domains (1) summary
      pfam06783
      Location:7 → 74
      UPF0239; Uncharacterized protein family (UPF0239)

    2. NM_001369742.1 → NP_001356671.1  protein MANBAL isoform a

      Status: VALIDATED

      Source sequence(s)
      AL034422
      Consensus CDS
      CCDS13293.1
      UniProtKB/Swiss-Prot
      A8KAA6, E1P5V3, Q9NQG1
      Conserved Domains (1) summary
      pfam06783
      Location:7 → 74
      UPF0239; Uncharacterized protein family (UPF0239)

    3. NM_001369743.1 → NP_001356672.1  protein MANBAL isoform a

      Status: VALIDATED

      Source sequence(s)
      AL034422
      Consensus CDS
      CCDS13293.1
      UniProtKB/Swiss-Prot
      A8KAA6, E1P5V3, Q9NQG1
      Conserved Domains (1) summary
      pfam06783
      Location:7 → 74
      UPF0239; Uncharacterized protein family (UPF0239)

    4. NM_001376529.1 → NP_001363458.1  protein MANBAL isoform a

      Status: VALIDATED

      Source sequence(s)
      AL034422
      Consensus CDS
      CCDS13293.1
      UniProtKB/Swiss-Prot
      A8KAA6, E1P5V3, Q9NQG1
      Conserved Domains (1) summary
      pfam06783
      Location:7 → 74
      UPF0239; Uncharacterized protein family (UPF0239)

    5. NM_001376530.1 → NP_001363459.1  protein MANBAL isoform a

      Status: VALIDATED

      Source sequence(s)
      AL034422
      Consensus CDS
      CCDS13293.1
      UniProtKB/Swiss-Prot
      A8KAA6, E1P5V3, Q9NQG1
      Conserved Domains (1) summary
      pfam06783
      Location:7 → 74
      UPF0239; Uncharacterized protein family (UPF0239)

    6. NM_001376531.1 → NP_001363460.1  protein MANBAL isoform a

      Status: VALIDATED

      Source sequence(s)
      AL034422
      Consensus CDS
      CCDS13293.1
      UniProtKB/Swiss-Prot
      A8KAA6, E1P5V3, Q9NQG1
      Conserved Domains (1) summary
      pfam06783
      Location:7 → 74
      UPF0239; Uncharacterized protein family (UPF0239)

    7. NM_001376532.1 → NP_001363461.1  protein MANBAL isoform a

      Status: VALIDATED

      Source sequence(s)
      AL034422
      Consensus CDS
      CCDS13293.1
      UniProtKB/Swiss-Prot
      A8KAA6, E1P5V3, Q9NQG1
      Related
      ENSP00000380339.3, ENST00000397152.7
      Conserved Domains (1) summary
      pfam06783
      Location:7 → 74
      UPF0239; Uncharacterized protein family (UPF0239)

    8. NM_001376533.1 → NP_001363462.1  protein MANBAL isoform a

      Status: VALIDATED

      Source sequence(s)
      AL034422
      Consensus CDS
      CCDS13293.1
      UniProtKB/Swiss-Prot
      A8KAA6, E1P5V3, Q9NQG1
      Conserved Domains (1) summary
      pfam06783
      Location:7 → 74
      UPF0239; Uncharacterized protein family (UPF0239)

    9. NM_001387335.1 → NP_001374264.1  protein MANBAL isoform a

      Status: VALIDATED

      Source sequence(s)
      AL034422
      Consensus CDS
      CCDS13293.1
      UniProtKB/Swiss-Prot
      A8KAA6, E1P5V3, Q9NQG1
      Related
      ENSP00000380338.1, ENST00000397151.1
      Conserved Domains (1) summary
      pfam06783
      Location:7 → 74
      UPF0239; Uncharacterized protein family (UPF0239)

    10. NM_001387336.1 → NP_001374265.1  protein MANBAL isoform b

      Status: VALIDATED

      Source sequence(s)
      AL034422
      Consensus CDS
      CCDS93036.1
      UniProtKB/TrEMBL
      A2A2E0
      Related
      ENSP00000380337.1, ENST00000397150.5
      Conserved Domains (1) summary
      pfam06783
      Location:7 → 49
      UPF0239; Uncharacterized protein family (UPF0239)

    11. NM_001387337.1 → NP_001374266.1  protein MANBAL isoform b

      Status: VALIDATED

      Source sequence(s)
      AL034422
      Consensus CDS
      CCDS93036.1
      UniProtKB/TrEMBL
      A2A2E0
      Conserved Domains (1) summary
      pfam06783
      Location:7 → 49
      UPF0239; Uncharacterized protein family (UPF0239)

    12. NM_001387338.1 → NP_001374267.1  protein MANBAL isoform b

      Status: VALIDATED

      Source sequence(s)
      AL034422
      Consensus CDS
      CCDS93036.1
      UniProtKB/TrEMBL
      A2A2E0
      Conserved Domains (1) summary
      pfam06783
      Location:7 → 49
      UPF0239; Uncharacterized protein family (UPF0239)

    13. NM_001387339.1 → NP_001374268.1  protein MANBAL isoform b

      Status: VALIDATED

      Source sequence(s)
      AL034422
      Consensus CDS
      CCDS93036.1
      UniProtKB/TrEMBL
      A2A2E0
      Conserved Domains (1) summary
      pfam06783
      Location:7 → 49
      UPF0239; Uncharacterized protein family (UPF0239)

    14. NM_022077.4 → NP_071360.1  protein MANBAL isoform a

      See identical proteins and their annotated locations for NP_071360.1

      Status: VALIDATED

      Source sequence(s)
      AL034422
      Consensus CDS
      CCDS13293.1
      UniProtKB/Swiss-Prot
      A8KAA6, E1P5V3, Q9NQG1
      Conserved Domains (1) summary
      pfam06783
      Location:7 → 74
      UPF0239; Uncharacterized protein family (UPF0239)

    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_000020.11 Reference GRCh38.p14 Primary Assembly

      Range
      37289655..37317260
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_025791812.1 Reference GRCh38.p14 PATCHES

      Range
      199157..226762
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060944.1 Alternate T2T-CHM13v2.0

      Range
      39013723..39041331
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9NQG1.1 GenPept UniProtKB/Swiss-Prot:Q9NQG1

    Gene LinkOut

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

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