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UBA6 ubiquitin like modifier activating enzyme 6 [ Homo sapiens (human) ]

Gene ID: 55236, updated on 10-Dec-2024

Summary

Official Symbol
UBA6provided by HGNC
Official Full Name
ubiquitin like modifier activating enzyme 6provided by HGNC
Primary source
HGNC:HGNC:25581
See related
Ensembl:ENSG00000033178 MIM:611361; AllianceGenome:HGNC:25581
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
E1-L2; MOP-4; UBE1L2
Summary
Modification of proteins with ubiquitin (UBB; MIM 191339) or ubiquitin-like proteins controls many signaling networks and requires a ubiquitin-activating enzyme (E1), a ubiquitin conjugating enzyme (E2), and a ubiquitin protein ligase (E3). UBE1L2 is an E1 enzyme that initiates the activation and conjugation of ubiquitin-like proteins (Jin et al., 2007 [PubMed 17597759]).[supplied by OMIM, Mar 2008]
Expression
Ubiquitous expression in lymph node (RPKM 7.6), appendix (RPKM 7.3) and 25 other tissues See more
Orthologs
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Genomic context

See UBA6 in Genome Data Viewer
Location:
4q13.2
Exon count:
33
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (67612652..67701155, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (71055730..71144265, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (68478370..68566873, complement)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene NANOG hESC enhancer GRCh37_chr4:68344255-68344756 Neighboring gene centromere protein C Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:68385691-68386192 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:68386193-68386692 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:68410993-68411543 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21595 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21596 Neighboring gene Sharpr-MPRA regulatory region 12077 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21597 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15462 Neighboring gene signal transducing adaptor family member 1 Neighboring gene small EDRK-rich factor 2-like Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15463 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15464 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15465 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21598 Neighboring gene dynein, axonemal, assembly factor 5 pseudodgene Neighboring gene UBA6 divergent transcript Neighboring gene ST3GAL1 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

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • FLJ10808, FLJ23367

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ATP binding IEA
Inferred from Electronic Annotation
more info
 
enables FAT10 activating enzyme activity IBA
Inferred from Biological aspect of Ancestor
more info
 
enables FAT10 activating enzyme activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables ubiquitin activating enzyme activity IBA
Inferred from Biological aspect of Ancestor
more info
 
Process Evidence Code Pubs
involved_in DNA damage response IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in amygdala development IEA
Inferred from Electronic Annotation
more info
 
involved_in dendritic spine development IEA
Inferred from Electronic Annotation
more info
 
involved_in hippocampus development IEA
Inferred from Electronic Annotation
more info
 
involved_in learning IEA
Inferred from Electronic Annotation
more info
 
involved_in locomotory behavior IEA
Inferred from Electronic Annotation
more info
 
involved_in protein ubiquitination IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in protein ubiquitination IEA
Inferred from Electronic Annotation
more info
 
involved_in protein ubiquitination IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in ubiquitin-dependent protein catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in ubiquitin-dependent protein catabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in cytoplasm IDA
Inferred from Direct Assay
more info
 
located_in cytosol TAS
Traceable Author Statement
more info
 
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
 

General protein information

Preferred Names
ubiquitin-like modifier-activating enzyme 6
Names
UBA6, ubiquitin-activating enzyme E1
monocyte protein 4
ubiquitin-activating enzyme 6
ubiquitin-activating enzyme E1-like 2
ubiquitin-activating enzyme E1-like protein 2
NP_060697.4
XP_016863848.1
XP_047271849.1
XP_054206360.1
XP_054206361.1

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_018227.6NP_060697.4  ubiquitin-like modifier-activating enzyme 6

    See identical proteins and their annotated locations for NP_060697.4

    Status: VALIDATED

    Source sequence(s)
    AC096720, AL832015, AW451445, AY359880, BC126484, BM973988
    Consensus CDS
    CCDS3516.1
    UniProtKB/Swiss-Prot
    A0AVT1, A6N8M7, B2RAV3, Q4W5K0, Q6UV21, Q86T78, Q86TC7, Q8N5T3, Q8N9E4, Q9H3T7, Q9NVC9
    Related
    ENSP00000313454.4, ENST00000322244.10
    Conserved Domains (4) summary
    cd01490
    Location:4621005
    Ube1_repeat2; Ubiquitin activating enzyme (E1), repeat 2. E1, a highly conserved small protein present universally in eukaryotic cells, is part of cascade to attach ubiquitin (Ub) covalently to substrate proteins. This cascade consists of activating (E1), conjugating ...
    cd01491
    Location:43432
    Ube1_repeat1; Ubiquitin activating enzyme (E1), repeat 1. E1, a highly conserved small protein present universally in eukaryotic cells, is part of cascade to attach ubiquitin (Ub) covalently to substrate proteins. This cascade consists of activating (E1), conjugating ...
    TIGR01408
    Location:381046
    Ube1; ubiquitin-activating enzyme E1
    pfam16191
    Location:299361
    E1_4HB; Ubiquitin-activating enzyme E1 four-helix bundle

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_000004.12 Reference GRCh38.p14 Primary Assembly

    Range
    67612652..67701155 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017008359.3XP_016863848.1  ubiquitin-like modifier-activating enzyme 6 isoform X1

  2. XM_047415893.1XP_047271849.1  ubiquitin-like modifier-activating enzyme 6 isoform X2

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060928.1 Alternate T2T-CHM13v2.0

    Range
    71055730..71144265 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054350385.1XP_054206360.1  ubiquitin-like modifier-activating enzyme 6 isoform X1

  2. XM_054350386.1XP_054206361.1  ubiquitin-like modifier-activating enzyme 6 isoform X2