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-Aug-2022

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
110 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (7640752..7879223)
110 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 MIOS divergent transcript Neighboring gene meiosis regulator for oocyte development Neighboring gene replication protein A3 Neighboring gene 5-azacytidine induced 2 pseudogene Neighboring gene ribosomal protein L23a pseudogene 51 Neighboring gene uncharacterized LOC105379719 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
  • 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

Homology

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
    UniProtKB/TrEMBL
    A4D104
    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
    UniProtKB/TrEMBL
    A4D104
    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: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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)