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    UMAD1 UBAP1-MVB12-associated (UMA) domain containing 1 [ Homo sapiens (human) ]

    Gene ID: 729852, updated on 10-Dec-2024

    Summary

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    Official Symbol
    UMAD1provided by HGNC
    Official Full Name
    UBAP1-MVB12-associated (UMA) domain containing 1provided by HGNC
    Primary source
    HGNC:HGNC:48955
    See related
    Ensembl:ENSG00000219545 AllianceGenome:HGNC:48955
    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
    RPA3OS; RPA3-AS1
    Expression
    Ubiquitous expression in thyroid (RPKM 13.8), adrenal (RPKM 10.3) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See UMAD1 in Genome Data Viewer
    Location:
    7p21.3
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (7640752..7879223)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (7758575..7997716)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (7680383..7918854)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:7596439-7596940 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:7596941-7597440 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17963 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25641 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25642 Neighboring gene MIOS divergent transcript Neighboring gene MPRA-validated peak6360 silencer Neighboring gene meiosis regulator for oocyte development Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25643 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25647 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25644 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17964 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25645 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25646 Neighboring gene replication protein A3 Neighboring gene 5-azacytidine induced 2 pseudogene Neighboring gene ribosomal protein L23a pseudogene 51 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr7:7832105-7832786 Neighboring gene uncharacterized LOC105379719 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25648 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25649 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr7:7860565-7861512 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_100048 Neighboring gene uncharacterized LOC124901586 Neighboring gene RNA, U6 small nuclear 534, pseudogene Neighboring gene cyclin B2 pseudogene 1

    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. Association of the RPA3-UMAD1 locus with interstitial lung diseases complicated with rheumatoid arthritis in Japanese. Shirai Y, et al. Ann Rheum Dis, 2020 Oct. PMID 32737115, Free PMC Article
    2. UMA and MABP domains throw light on receptor endocytosis and selection of endosomal cargoes. de Souza RF, et al. Bioinformatics, 2010 Jun 15. PMID 20448139, Free PMC Article
    3. Genome-wide association study of serious blistering skin rash caused by drugs. Shen Y, et al. Pharmacogenomics J, 2012 Apr. PMID 21221126
    4. A genome-wide association study identifies novel loci associated with circulating IGF-I and IGFBP-3. Kaplan RC, et al. Hum Mol Genet, 2011 Mar 15. PMID 21216879, Free PMC Article
    5. Genome-wide association study of primary dentition pit-and-fissure and smooth surface caries. Zeng Z, et al. Caries Res, 2014. PMID 24556642, Free PMC Article

    See all (14) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Association of the RPA3-UMAD1 locus with interstitial lung diseases complicated with rheumatoid arthritis in Japanese.
      Title: Association of the RPA3-UMAD1 locus with interstitial lung diseases complicated with rheumatoid arthritis in Japanese.
    Submit: New GeneRIF Correction

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    A genome-wide association study identifies novel loci associated with circulating IGF-I and IGFBP-3.
    EBI GWAS Catalog
    Genome-wide association study of primary dentition pit-and-fissure and smooth surface caries.
    EBI GWAS Catalog
    Genome-wide association study of serious blistering skin rash caused by drugs.
    EBI GWAS Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    EBI GWAS Catalog

    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

    Potential readthrough

    Included gene: GLCCI1

    Homology

    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
    UBAP1-MVB12-associated (UMA)-domain containing protein 1
    Names
    RPA3 antisense RNA 1
    RPA3 opposite strand

    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_001302348.2 → NP_001289277.1  UBAP1-MVB12-associated (UMA)-domain containing protein 1 isoform a

      See identical proteins and their annotated locations for NP_001289277.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (a). Variants 1 and 2 encode the same isoform (a).
      Source sequence(s)
      AC006465, AI565121, DC368552
      Consensus CDS
      CCDS83158.1
      UniProtKB/Swiss-Prot
      A4D104, C9J7I0
      Related
      ENSP00000507605.1, ENST00000682710.1

    2. NM_001302349.2 → NP_001289278.1  UBAP1-MVB12-associated (UMA)-domain containing protein 1 isoform a

      See identical proteins and their annotated locations for NP_001289278.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site in the 5' UTR, compared to variant 1. Variants 1 and 2 encode the same isoform (a).
      Source sequence(s)
      AC006465, AI565121, DC313244, DC340488
      Consensus CDS
      CCDS83158.1
      UniProtKB/Swiss-Prot
      A4D104, C9J7I0
      Related
      ENSP00000489648.1, ENST00000636849.1

    3. NM_001302350.2 → NP_001289279.1  UBAP1-MVB12-associated (UMA)-domain containing protein 1 isoform b

      See identical proteins and their annotated locations for NP_001289279.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) contains an alternate exon in the 5' region and initiates translation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (b) has a shorter N-terminus than isoform a.
      Source sequence(s)
      AC006465, AI565121, DA576342, DC368552
      UniProtKB/Swiss-Prot
      C9J7I0

    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_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      7640752..7879223
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      7758575..7997716
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    C9J7I0.2 GenPept UniProtKB/Swiss-Prot:C9J7I0

    Gene LinkOut

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

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