U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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

Gene ID: 729852, updated on 5-Mar-2024

Summary

Go to the top of the page Help
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
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
See UMAD1 in Genome Data Viewer
Location:
7p21.3
Exon count:
5
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (7640752..7879223)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (7758575..7997716)
105.20220307 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

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • 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

Go to the top of the pageHelp

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

Go to the top of the page Help

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

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

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

Go to the top of the page Help
Preferred Names
UBAP1-MVB12-associated (UMA)-domain containing protein 1
Names
RPA3 antisense RNA 1
RPA3 opposite strand

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

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_001302348.2 → 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_2023_10

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.

Molecular Biology Databases
Research Materials
Miscellaneous