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    MAB21L3 mab-21 like 3 [ Homo sapiens (human) ]

    Gene ID: 126868, updated on 17-Jun-2024

    Summary

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    Official Symbol
    MAB21L3provided by HGNC
    Official Full Name
    mab-21 like 3provided by HGNC
    Primary source
    HGNC:HGNC:26787
    See related
    Ensembl:ENSG00000173212 AllianceGenome:HGNC:26787
    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
    D5; C1orf161
    Expression
    Biased expression in esophagus (RPKM 2.5), skin (RPKM 1.9) and 7 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See MAB21L3 in Genome Data Viewer
    Location:
    1p13.1
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (116111399..116138149)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (116119359..116146123)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (116654020..116680770)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101928977 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:116470749-116471250 Neighboring gene long intergenic non-protein coding RNA 1649 Neighboring gene NANOG hESC enhancer GRCh37_chr1:116483799-116484300 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1224 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1225 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:116531140-116531301 Neighboring gene solute carrier family 22 member 15 Neighboring gene NANOG hESC enhancer GRCh37_chr1:116590670-116591171 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr1:116609321-116610520 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1226 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1556 Neighboring gene uncharacterized LOC105378918 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1557 Neighboring gene Sharpr-MPRA regulatory region 11424 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1227 Neighboring gene uncharacterized LOC124904384 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1228 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1558 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:116712258-116712441 Neighboring gene Sharpr-MPRA regulatory region 10090 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr1:116773350-116773887 Neighboring gene uncharacterized LOC105378919

    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. Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations. Fragoza R, et al. Nat Commun, 2019 Sep 12. PMID 31515488, Free PMC Article
    2. A proteome-scale map of the human interactome network. Rolland T, et al. Cell, 2014 Nov 20. PMID 25416956, Free PMC Article
    3. The BioPlex Network: A Systematic Exploration of the Human Interactome. Huttlin EL, et al. Cell, 2015 Jul 16. PMID 26186194, Free PMC Article
    4. A reference map of the human binary protein interactome. Luck K, et al. Nature, 2020 Apr. PMID 32296183, 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 (6) 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

    Clone Names

    • FLJ38716

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    protein mab-21-like 3
    Names
    DANGER family member 5

    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_152367.3 → NP_689580.2  protein mab-21-like 3

      See identical proteins and their annotated locations for NP_689580.2

      Status: VALIDATED

      Source sequence(s)
      AK096035, AL121982
      Consensus CDS
      CCDS886.1
      UniProtKB/Swiss-Prot
      Q5TDL7, Q8N8X9
      Related
      ENSP00000358512.3, ENST00000369500.4
      Conserved Domains (1) summary
      pfam03281
      Location:58 → 351
      Mab-21; Mab-21 protein

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    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
      116111399..116138149
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047444823.1 → XP_047300779.1  protein mab-21-like 3 isoform X1

      UniProtKB/Swiss-Prot
      Q5TDL7, Q8N8X9
      Related
      ENSP00000506754.1, ENST00000684484.1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      116119359..116146123
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054334277.1 → XP_054190252.1  protein mab-21-like 3 isoform X1

      UniProtKB/Swiss-Prot
      Q5TDL7, Q8N8X9
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8N8X9.2 GenPept UniProtKB/Swiss-Prot:Q8N8X9

    Gene LinkOut

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

    Chemical Information
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