U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from GEO Profiles

    • Showing Current items.

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

    Gene ID: 729852, updated on 17-Sep-2024

    Summary

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    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

    Expression

    • 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

    Phenotypes

    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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Potential readthrough

    Included gene: GLCCI1

    Gene Ontology Provided by GOA

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

    General protein information

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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001302348.2NP_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_001302349.2NP_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_001302350.2NP_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)