UBE2V1

Chr 20

ubiquitin conjugating enzyme E2 V1

Also known as: CIR1, CROC-1, CROC1, UBE2V, UEV-1, UEV1, UEV1A

Ubiquitin-conjugating E2 enzyme variant proteins constitute a distinct subfamily within the E2 protein family. They have sequence similarity to other ubiquitin-conjugating enzymes but lack the conserved cysteine residue that is critical for the catalytic activity of E2s. The protein encoded by this gene is located in the nucleus and can cause transcriptional activation of the human FOS proto-oncogene. It is thought to be involved in the control of differentiation by altering cell cycle behavior. Alternatively spliced transcript variants encoding multiple isoforms have been described for this gene, and multiple pseudogenes of this gene have been identified. Co-transcription of this gene and the neighboring upstream gene generates a rare transcript (Kua-UEV), which encodes a fusion protein comprised of sequence sharing identity with each individual gene product. [provided by RefSeq, Apr 2012]

OMIMResearchGenerating clinical summary…
0
Active trials
13
Pubs (1 yr)
P/LP submissions
P/LP missense
1.37
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.37LOEUF
pLI 0.000
Z-score 0.77
OE 0.73 (0.411.37)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
1.55Z-score
OE missense 0.55 (0.430.69)
50 obs / 91.7 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.73 (0.411.37)
00.351.4
Missense OE?0.55 (0.430.69)
00.61.4
Synonymous OE?1.15
01.21.6
LoF obs/exp: 7 / 9.6Missense obs/exp: 50 / 91.7Syn Z: -0.64

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

UBE2V1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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