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MANBAL mannosidase beta like [ Homo sapiens (human) ]

Gene ID: 63905, updated on 2-Nov-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, Nov 2024]
Expression
Ubiquitous expression in endometrium (RPKM 16.3), adrenal (RPKM 14.8) and 25 other tissues See more
Orthologs
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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 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)

Genotypes

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

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