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UBAC2 UBA domain containing 2 [ Homo sapiens (human) ]

Gene ID: 337867, updated on 6-Nov-2022

Summary

Official Symbol
UBAC2provided by HGNC
Official Full Name
UBA domain containing 2provided by HGNC
Primary source
HGNC:HGNC:20486
See related
Ensembl:ENSG00000134882 AllianceGenome:HGNC:20486
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
PHGDHL1
Summary
Involved in negative regulation of canonical Wnt signaling pathway and negative regulation of retrograde protein transport, ER to cytosol. Acts upstream of or within protein localization to endoplasmic reticulum. Located in endoplasmic reticulum. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in testis (RPKM 8.2), thyroid (RPKM 7.2) and 25 other tissues See more
Orthologs
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Genomic context

See UBAC2 in Genome Data Viewer
Location:
13q32.3
Exon count:
11
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (99200854..99386504)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (98411009..98596811)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (99853108..100038758)

Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene glyceraldehyde 3 phosphate dehydrogenase pseudogene 22 Neighboring gene UBAC2 antisense RNA 1 Neighboring gene RN7SK pseudogene 9 Neighboring gene H2A.Z histone pseudogene 3 Neighboring gene uncharacterized LOC124903198 Neighboring gene G protein-coupled receptor 18 Neighboring gene G protein-coupled receptor 183 Neighboring gene FKSG29 Neighboring gene microRNA 623 Neighboring gene high mobility group box 3 pseudogene 4 Neighboring gene C-C motif chemokine receptor 12, pseudogene Neighboring gene long intergenic non-protein coding RNA 1232

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

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

EBI GWAS Catalog

Description
Genome-wide association study identifies novel alleles associated with risk of cutaneous basal cell carcinoma and squamous cell carcinoma.
EBI GWAS Catalog
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
EBI GWAS Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ26351, FLJ30001, FLJ30548, FLJ42413, MGC90487

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
located_in endoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
located_in endoplasmic reticulum membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
ubiquitin-associated domain-containing protein 2
Names
RP11-178C10.1
UBA domain-containing protein 2
phosphoglycerate dehydrogenase like 1
phosphoglycerate dehydrogenase-like protein 1

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_001144072.2NP_001137544.1  ubiquitin-associated domain-containing protein 2 isoform 1 precursor

    See identical proteins and their annotated locations for NP_001137544.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AI866141, AK075419, AK290342, AL136961, BC072674
    Consensus CDS
    CCDS45064.1
    UniProtKB/Swiss-Prot
    Q8NBM4, Q96NW2
    UniProtKB/TrEMBL
    A0A024RE02, A8K2S7
    Related
    ENSP00000383911.3, ENST00000403766.8
    Conserved Domains (1) summary
    cd14305
    Location:305342
    UBA_UBAC2; UBA domain found in ubiquitin-associated domain-containing protein 2 (UBAC2) and similar proteins
  2. NM_177967.4NP_808882.1  ubiquitin-associated domain-containing protein 2 isoform 2

    See identical proteins and their annotated locations for NP_808882.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) contains an alternate 5' end exon and is missing two consecutive in-frame coding exons compared to transcript variant 1. This results in a shorter isoform (2) with a different N-terminus compares to isoform 1.
    Source sequence(s)
    AI866141, AK054563, AL136961, AL159981, BC072674
    Consensus CDS
    CCDS9490.1
    UniProtKB/Swiss-Prot
    Q8NBM4
    Related
    ENSP00000365623.2, ENST00000376440.6
    Conserved Domains (1) summary
    cd14305
    Location:270307
    UBA_UBAC2; UBA domain found in ubiquitin-associated domain-containing protein 2 (UBAC2) and similar proteins

RNA

  1. NR_026644.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) contains an alternate 5' end exon compared to transcript variant 1, which results in use of downstream translation start site and premature translation termination, rendering this transcript susceptible to nonsense-mediated mRNA decay (NMD). This transcript is sufficiently abundant to represent as a RefSeq record, however, the predicted protein is not represented because it is significantly truncated.
    Source sequence(s)
    AI866141, AK054563, AL136961, AL159981, BC072674, BC121139

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_000013.11 Reference GRCh38.p14 Primary Assembly

    Range
    99200854..99386504
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011521083.3XP_011519385.1  ubiquitin-associated domain-containing protein 2 isoform X2

    Conserved Domains (1) summary
    cd14305
    Location:253290
    UBA_UBAC2; UBA domain found in ubiquitin-associated domain-containing protein 2 (UBAC2) and similar proteins
  2. XM_011521082.3XP_011519384.2  ubiquitin-associated domain-containing protein 2 isoform X1

  3. XM_047430286.1XP_047286242.1  ubiquitin-associated domain-containing protein 2 isoform X3

    Related
    ENST00000494576.5
  4. XM_017020553.2XP_016876042.1  ubiquitin-associated domain-containing protein 2 isoform X4

    Conserved Domains (1) summary
    cd14305
    Location:135172
    UBA_UBAC2; UBA domain found in ubiquitin-associated domain-containing protein 2 (UBAC2) and similar proteins

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060937.1 Alternate T2T-CHM13v2.0

    Range
    98411009..98596811
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)