Official Symbol

UBA3provided by HGNC

Official Full Name

ubiquitin-like modifier activating enzyme 3provided by HGNC

Primary Source

HGNC:12470

See related

Ensembl:ENSG00000144744; HPRD:04413; MIM:603172

Gene type

protein coding

RefSeq status

REVIEWED

Organism

Homo sapiens

Lineage

Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo

Also known as

UBE1C; hUBA3; MGC22384; DKFZp566J164; UBA3

Summary

The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes a member of the E1 ubiquitin-activating enzyme family. The encoded enzyme associates with AppBp1, an amyloid beta precursor protein binding protein, to form a heterodimer, and then the enzyme complex activates NEDD8, a ubiquitin-like protein, which regulates cell division, signaling and embryogenesis. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq]

(minus strand) Go to reference sequence detailsTry our new Sequence Viewer

Preferred Names

ubiquitin-activating enzyme 3

Names

ubiquitin-activating enzyme 3

Nedd8-activating enzyme hUba3

UBA3, ubiquitin-activating enzyme E1 homolog

ubiquitin-activating enzyme E1C (UBA3 homolog, yeast)

ubiquitin-activating enzyme E1C (homologous to yeast UBA3)

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_003968.3 → NP_003959.3  ubiquitin-activating enzyme 3 isoform 1

   Description

   Transcript Variant: This variant (1) encodes the longer isoform (1).

   Source sequence(s)

   AK002159,AL117566,BC022853,CD700642

   Consensus CDS

   CCDS2909.1

   UniProtKB/TrEMBL

   A6NLB5

   UniProtKB/TrEMBL

   A8K027

   UniProtKB/Swiss-Prot

   Q8TBC4

   Conserved Domains (2) summary

   cd01488
   Location:71 – 368
   Blast Score: 1420

   Uba3_RUB; Ubiquitin activating enzyme (E1) subunit UBA3. UBA3 is part of the heterodimeric activating enzyme (E1), specific for the Rub family of ubiquitin-like proteins (Ubls). E1 enzymes are part of a conjugation cascade to attach Ub or Ubls, covalently to...

   pfam08825
   Location:374 – 462
   Blast Score: 281

   E2_bind; E2 binding domain

2. NM_198195.1 → NP_937838.1  ubiquitin-activating enzyme 3 isoform 2

   Description

   Transcript Variant: This variant (2) lacks an in-frame exon in the 5' coding region, as compared to variant 1. The encoded isoform (2) is thus missing an internal segment in the N-terminal region, as compared to isoform 1.

   Source sequence(s)

   AK002159,AL117566,CD700642

   Consensus CDS

   CCDS2910.1

   UniProtKB/TrEMBL

   A6NLB5

   UniProtKB/Swiss-Prot

   Q8TBC4

   Conserved Domains (2) summary

   cd01488
   Location:57 – 354
   Blast Score: 1419

   Uba3_RUB; Ubiquitin activating enzyme (E1) subunit UBA3. UBA3 is part of the heterodimeric activating enzyme (E1), specific for the Rub family of ubiquitin-like proteins (Ubls). E1 enzymes are part of a conjugation cascade to attach Ub or Ubls, covalently to...

   pfam08825
   Location:360 – 448
   Blast Score: 280

   E2_bind; E2 binding domain

RefSeqs of Annotated Genomes: Build 37.1

The following sections contain reference sequences that belong to a specific genome build. Explain

This section includes genomic Reference Sequences (RefSeqs) from all assemblies on which this gene is annotated, such as RefSeqs for chromosomes and scaffolds (contigs) from both reference and alternate assemblies. Model RNAs and proteins are also reported here.

Genome Reference Consortium Human Build 37 (GRCh37), Primary_Assembly

Genomic

1. NC_000003.11

   Range

   69103880..69129523, complement

   Download

   GenBank FASTA Sequence Viewer (Graphics)

2. NT_022459.15 

   Range

   2833610..2859253, complement

   Download

   GenBank FASTA Sequence Viewer (Graphics)

Alternate assembly (Celera)

Genomic

1. AC_000046.1

   Range

   69031986..69057631, complement

   Download

   GenBank FASTA Sequence Viewer (Graphics)

2. NW_921651.1 

   Range

   69031986..69057631, complement

   Download

   GenBank FASTA Sequence Viewer (Graphics)

Alternate assembly (HuRef)

Genomic

1. AC_000135.1

   Range

   69104952..69130598, complement

   Download

   GenBank FASTA Sequence Viewer (Graphics)

2. NW_001838878.1 

   Range

   2837191..2862837, complement

   Download

   GenBank FASTA Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

These RefSeqs were suppressed for the cited reason(s). Suppressed RefSeqs do not appear in BLAST databases, related sequence links, or BLAST links (BLink), but may still be retrieved by clicking on their accession.version below.

1. NM_198197.1: Suppressed sequence

   Description

   NM_198197.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.