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

Gene ID: 149175, updated on 10-Dec-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, Dec 2024]
Expression
Broad expression in brain (RPKM 5.9), thyroid (RPKM 2.3) and 21 other tissues See more
Orthologs
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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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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

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