UBE2V1 ubiquitin conjugating enzyme E2 V1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: UBE2V1provided by HGNC
Official Full Name: ubiquitin conjugating enzyme E2 V1provided by HGNC
Primary source: HGNC:HGNC:12494
See related: Ensembl:ENSG00000244687 MIM:602995; AllianceGenome:HGNC:12494
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: CIR1; UEV1; CROC1; UBE2V; UEV-1; UEV1A; CROC-1
Summary: 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]
Expression: Ubiquitous expression in brain (RPKM 23.0), placenta (RPKM 20.8) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 20q13.13

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	20	NC_000020.11 (50081124..50115957, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	20	NC_060944.1 (51850763..51885744, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	20	NC_000020.10 (48697661..48732494, complement)

Chromosome 20 - NC_000020.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Role of Ubiquitin-conjugating enzyme E2 (UBE2) in two immune-mediated inflammatory skin diseases: a mendelian randomization analysis.
Title: Role of Ubiquitin-conjugating enzyme E2 (UBE2) in two immune-mediated inflammatory skin diseases: a mendelian randomization analysis.
Hypoxia-induced long non-coding RNA LINC00460 promotes p53 mediated proliferation and metastasis of pancreatic cancer by regulating the miR-4689/UBE2V1 axis and sequestering USP10.
Title: Hypoxia-induced long non-coding RNA LINC00460 promotes p53 mediated proliferation and metastasis of pancreatic cancer by regulating the miR-4689/UBE2V1 axis and sequestering USP10.
Ubiquitin-conjugating enzyme V variant 1 enables cellular responses toward fibroblast growth factor signaling in endothelium.
Title: Ubiquitin-conjugating enzyme V variant 1 enables cellular responses toward fibroblast growth factor signaling in endothelium.
Uev1A amino terminus stimulates poly-ubiquitin chain assembly and is required for NF-kappaB activation.
Title: Uev1A amino terminus stimulates poly-ubiquitin chain assembly and is required for NF-κB activation.
Uev1A promotes breast cancer cell migration by up-regulating CT45A expression via the AKT pathway.
Title: Uev1A promotes breast cancer cell migration by up-regulating CT45A expression via the AKT pathway.
Linkage-specific ubiquitin chain formation depends on a lysine hydrocarbon ruler.
Title: Linkage-specific ubiquitin chain formation depends on a lysine hydrocarbon ruler.
Ube2v1 Positively Regulates Protein Aggregation by Modulating Ubiquitin Proteasome System Performance Partially Through K63 Ubiquitination.
Title: Ube2v1 Positively Regulates Protein Aggregation by Modulating Ubiquitin Proteasome System Performance Partially Through K63 Ubiquitination.
Ube2v1suppressed autophagy program and promoted epithelial mesenchymal transition (EMT) and metastasis of CRC cells in an autophagy-dependent pattern in vitro and in vivo.
Title: Ube2v1-mediated ubiquitination and degradation of Sirt1 promotes metastasis of colorectal cancer by epigenetically suppressing autophagy.
Uev1A-Ubc13 complex catalyzes lysine63-linked ubiquitination of RHBDF2 to promote TACE maturation.
Title: Uev1A-Ubc13 catalyzes K63-linked ubiquitination of RHBDF2 to promote TACE maturation.
Uev1A appears to be involved in the BMP signaling pathway in which it collaborates with a ubiquitin E3 ligase Smurf1 to promote Smad1 degradation in a Ubc13-independent manner.
Title: Uev1A facilitates osteosarcoma differentiation by promoting Smurf1-mediated Smad1 ubiquitination and degradation.

Submit: New GeneRIF Correction See all GeneRIFs (17)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See Variation Viewer (GRCh37.p13)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Tat	tat	HIV-1 Tat 47-59 peptide downregulates gene expression of ubiquitin-conjugating enzyme E2 variant 1 (UBE2V1) in U-937 macrophages	PubMed
capsid	gag	Heterodimeric E2 UBC13-UEV1A and the arginine 63-linked ubiquitin chains play a role in TRIM5alpha-mediated signaling, which leads to capsid-specific restriction	PubMed

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

G26465 (e-PCR)
- UniSTS:51463

SHGC-173 (e-PCR)
- UniSTS:69140

D2S1964 (e-PCR)
- UniSTS:61226

PMC121525P1 (e-PCR)
- UniSTS:270382

PMC121525P2 (e-PCR)
- UniSTS:270383

PMC121525P3 (e-PCR)
- UniSTS:270384

PMC121525P4 (e-PCR)
- UniSTS:270385

RH11748 (e-PCR)
- UniSTS:65937

HSC0RC102 (e-PCR)
- UniSTS:12199

GDB:451742 (e-PCR)
- UniSTS:157358

Readthrough PEDS1-UBE2V1

Readthrough gene: PEDS1-UBE2V1, Included gene: PEDS1

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in cell differentiation	NAS Non-traceable Author Statement more info	PubMed
involved_in positive regulation of DNA-templated transcription	TAS Traceable Author Statement more info	PubMed
involved_in positive regulation of NF-kappaB transcription factor activity	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of canonical NF-kappaB signal transduction	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of intracellular signal transduction	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of protein K63-linked ubiquitination	IDA Inferred from Direct Assay more info	PubMed
involved_in postreplication repair	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein K63-linked ubiquitination	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein K63-linked ubiquitination	IDA Inferred from Direct Assay more info	PubMed
involved_in protein polyubiquitination	TAS Traceable Author Statement more info	PubMed
involved_in regulation of DNA repair	TAS Traceable Author Statement more info	PubMed
involved_in regulation of DNA-templated transcription	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
part_of UBC13-MMS2 complex	IDA Inferred from Direct Assay more info	PubMed
part_of UBC13-MMS2 complex	IPI Inferred from Physical Interaction more info	PubMed
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
located_in extracellular exosome	HDA more info	PubMed
located_in nucleoplasm	IDA Inferred from Direct Assay more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	TAS Traceable Author Statement more info	PubMed
part_of protein-containing complex	IDA Inferred from Direct Assay more info	PubMed
part_of ubiquitin conjugating enzyme complex	IBA Inferred from Biological aspect of Ancestor more info
part_of ubiquitin conjugating enzyme complex	IDA Inferred from Direct Assay more info	PubMed
part_of ubiquitin ligase complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: ubiquitin-conjugating enzyme E2 variant 1

Names: DNA-binding protein; TRAF6-regulated IKK activator 1 beta Uev1A

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.

Genomic

NG_029526.2 RefSeqGene

Range

7808..39834

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001032288.3 → NP_001027459.1 ubiquitin-conjugating enzyme E2 variant 1 isoform d

See identical proteins and their annotated locations for NP_001027459.1

Status: REVIEWED

Description

Transcript Variant: This variant (4) differs in the 5' UTR and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (d) is shorter and has a distinct N-terminus, compared to isoform a.

Source sequence(s)

BC000468, BU934624, BX647511

Consensus CDS

CCDS33483.1

UniProtKB/Swiss-Prot

E1P629, Q13403, Q13404, Q13532, Q5TGE0, Q5TGE3, Q96H34, Q9GZT0, Q9GZW1, Q9H4J3, Q9H4J4, Q9UKL1, Q9UM48, Q9UM49, Q9UM50

Related

ENSP00000360739.4, ENST00000371674.8

Conserved Domains (1) summary

smart00212
Location:16 → 142

UBCc; Ubiquitin-conjugating enzyme E2, catalytic domain homologues
NM_001257393.2 → NP_001244322.1 ubiquitin-conjugating enzyme E2 variant 1 isoform a

See identical proteins and their annotated locations for NP_001244322.1

Status: REVIEWED

Description

Transcript Variant: This variant (5) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 5 encode the same isoform (a)

Source sequence(s)

BX647511, CN346855, DA409547

Consensus CDS

CCDS13426.1

UniProtKB/Swiss-Prot

Q13404

Conserved Domains (1) summary

smart00212
Location:39 → 165

UBCc; Ubiquitin-conjugating enzyme E2, catalytic domain homologues
NM_001257394.2 → NP_001244323.1 ubiquitin-conjugating enzyme E2 variant 1 isoform c

See identical proteins and their annotated locations for NP_001244323.1

Status: REVIEWED

Description

Transcript Variant: This variant (6) lacks an exon in the coding region and initiates translation at an alternate start codon, compared to variant 1. Variants 3 and 6 encode the same isoform (c), which is shorter and has a distinct N-terminus, compared to isoform a.

Source sequence(s)

BX647511, CD103154, DA409547

Consensus CDS

CCDS13427.1

UniProtKB/Swiss-Prot

Q13404

Related

ENSP00000407770.2, ENST00000415862.6

Conserved Domains (1) summary

cl00154
Location:3 → 98

UBCc; Ubiquitin-conjugating enzyme E2, catalytic (UBCc) domain. This is part of the ubiquitin-mediated protein degradation pathway in which a thiol-ester linkage forms between a conserved cysteine and the C-terminus of ubiquitin and complexes with ubiquitin ...
NM_001257395.2 → NP_001244324.1 ubiquitin-conjugating enzyme E2 variant 1 isoform e

See identical proteins and their annotated locations for NP_001244324.1

Status: REVIEWED

Description

Transcript Variant: This variant (7) differs in the 5' UTR, initiates translation at an alternate start codon and uses an alternate splice site in the coding region, compared to variant 1. The encoded isoform (e) is shorter and has a distinct N-terminus, compared to isoform a.

Source sequence(s)

BU934624, BX647511, DA885410

Conserved Domains (1) summary

smart00212
Location:13 → 139

UBCc; Ubiquitin-conjugating enzyme E2, catalytic domain homologues
NM_001257396.2 → NP_001244325.1 ubiquitin-conjugating enzyme E2 variant 1 isoform f

See identical proteins and their annotated locations for NP_001244325.1

Status: REVIEWED

Description

Transcript Variant: This variant (8) differs in the 5' UTR, initiates translation at an alternate start codon and lacks an exon in the 3' coding region, compared to variant 1. The encoded isoform (f) is shorter and has a distinct N-terminus, compared to isoform a.

Source sequence(s)

BU934624, BX647511, DA696213

Consensus CDS

CCDS58775.1

UniProtKB/Swiss-Prot

Q13404

Related

ENSP00000360720.5, ENST00000371657.9

Conserved Domains (1) summary

cl00154
Location:16 → 100

UBCc; Ubiquitin-conjugating enzyme E2, catalytic (UBCc) domain. This is part of the ubiquitin-mediated protein degradation pathway in which a thiol-ester linkage forms between a conserved cysteine and the C-terminus of ubiquitin and complexes with ubiquitin ...
NM_001257397.2 → NP_001244326.1 ubiquitin-conjugating enzyme E2 variant 1 isoform g

See identical proteins and their annotated locations for NP_001244326.1

Status: REVIEWED

Description

Transcript Variant: This variant (9) differs in the 5' UTR, contains an alternate internal exon and initiates translation at a downstream, in-frame start codon, compared to variant 1. Variants 9, 10, 11, 14, and 17 encode the same isoform (g), which has a shorter N-terminus compared to isoform a.

Source sequence(s)

BU934624, BX647511, DB448941

Consensus CDS

CCDS74740.1

UniProtKB/TrEMBL

G3V2F7

Conserved Domains (1) summary

smart00212
Location:2 → 100

UBCc; Ubiquitin-conjugating enzyme E2, catalytic domain homologues
NM_001257398.2 → NP_001244327.1 ubiquitin-conjugating enzyme E2 variant 1 isoform g

See identical proteins and their annotated locations for NP_001244327.1

Status: REVIEWED

Description

Transcript Variant: This variant (10) differs in the 5' UTR, contains an alternate internal exon and initiates translation at a downstream, in-frame start codon, compared to variant 1. Variants 9, 10, 11, 14, and 17 encode the same isoform (g), which has a shorter N-terminus compared to isoform a.

Source sequence(s)

BU934624, BX647511, DA892136

Consensus CDS

CCDS74740.1

UniProtKB/TrEMBL

G3V2F7

Related

ENSP00000485599.1, ENST00000625172.3

Conserved Domains (1) summary

smart00212
Location:2 → 100

UBCc; Ubiquitin-conjugating enzyme E2, catalytic domain homologues
NM_001257399.2 → NP_001244328.1 ubiquitin-conjugating enzyme E2 variant 1 isoform g

See identical proteins and their annotated locations for NP_001244328.1

Status: REVIEWED

Description

Transcript Variant: This variant (11) differs in the 5' UTR, contains an alternate internal exon and initiates translation at a downstream, in-frame start codon, compared to variant 1. Variants 9, 10, 11, 14, and 17 encode the same isoform (g), which has a shorter N-terminus compared to isoform a.

Source sequence(s)

BU934624, BX647511, DA573591, DA625165

Consensus CDS

CCDS74740.1

UniProtKB/TrEMBL

G3V2F7

Conserved Domains (1) summary

smart00212
Location:2 → 100

UBCc; Ubiquitin-conjugating enzyme E2, catalytic domain homologues
NM_001282575.3 → NP_001269504.1 ubiquitin-conjugating enzyme E2 variant 1 isoform h

See identical proteins and their annotated locations for NP_001269504.1

Status: REVIEWED

Description

Transcript Variant: This variant (12) uses an alternate 5' exon structure, and thus differs in the 5' UTR and 5' coding region, compared to variant 1. These differences cause translation initiation at an alternate AUG and result in an isoform (h) with a shorter and distinct N-terminus, compared to isoform a. Variants 12, 15, and 16 encode the same isoform (h).

Source sequence(s)

BC005215, BX647511, KF456937

Conserved Domains (1) summary

cl00154
Location:2 → 86

UBCc; Ubiquitin-conjugating enzyme E2, catalytic (UBCc) domain. This is part of the ubiquitin-mediated protein degradation pathway in which a thiol-ester linkage forms between a conserved cysteine and the C-terminus of ubiquitin and complexes with ubiquitin ...
NM_001282576.2 → NP_001269505.1 ubiquitin-conjugating enzyme E2 variant 1 isoform g

See identical proteins and their annotated locations for NP_001269505.1

Status: REVIEWED

Description

Transcript Variant: This variant (14) differs in the 5' UTR, contains an alternate internal exon and initiates translation at a downstream, in-frame start codon, compared to variant 1. Variants 9, 10, 11, 14, and 17 encode the same isoform (g), which has a shorter N-terminus compared to isoform a.

Source sequence(s)

BU934624, BX647511, DA642098

Consensus CDS

CCDS74740.1

UniProtKB/TrEMBL

G3V2F7

Related

ENSP00000484828.1, ENST00000617119.4

Conserved Domains (1) summary

smart00212
Location:2 → 100

UBCc; Ubiquitin-conjugating enzyme E2, catalytic domain homologues
NM_001282577.3 → NP_001269506.1 ubiquitin-conjugating enzyme E2 variant 1 isoform h

See identical proteins and their annotated locations for NP_001269506.1

Status: REVIEWED

Description

Transcript Variant: This variant (15) uses an alternate 5' exon structure, and thus differs in the 5' UTR and 5' coding region, compared to variant 1. These differences cause translation initiation at an alternate AUG and result in an isoform (h) with a shorter and distinct N-terminus, compared to isoform a. Variants 12, 15, and 16 encode the same isoform (h).

Source sequence(s)

BU934624, BX647511, DA087027, KF456937

Conserved Domains (1) summary

cl00154
Location:2 → 86

UBCc; Ubiquitin-conjugating enzyme E2, catalytic (UBCc) domain. This is part of the ubiquitin-mediated protein degradation pathway in which a thiol-ester linkage forms between a conserved cysteine and the C-terminus of ubiquitin and complexes with ubiquitin ...
NM_001282578.3 → NP_001269507.1 ubiquitin-conjugating enzyme E2 variant 1 isoform h

See identical proteins and their annotated locations for NP_001269507.1

Status: REVIEWED

Description

Transcript Variant: This variant (16) uses an alternate 5' exon structure, and thus differs in the 5' UTR and 5' coding region, compared to variant 1. These differences cause translation initiation at an alternate AUG and result in an isoform (h) with a shorter and distinct N-terminus, compared to isoform a. Variants 12, 15, and 16 encode the same isoform (h).

Source sequence(s)

BU934624, BX647511, DA916492, KF456937

Conserved Domains (1) summary

cl00154
Location:2 → 86

UBCc; Ubiquitin-conjugating enzyme E2, catalytic (UBCc) domain. This is part of the ubiquitin-mediated protein degradation pathway in which a thiol-ester linkage forms between a conserved cysteine and the C-terminus of ubiquitin and complexes with ubiquitin ...
NM_001282579.2 → NP_001269508.1 ubiquitin-conjugating enzyme E2 variant 1 isoform g

See identical proteins and their annotated locations for NP_001269508.1

Status: REVIEWED

Description

Transcript Variant: This variant (17) differs in the 5' UTR, contains an alternate internal exon and initiates translation at a downstream, in-frame start codon, compared to variant 1. Variants 9, 10, 11, 14, and 17 encode the same isoform (g), which has a shorter N-terminus compared to isoform a.

Source sequence(s)

BU934624, BX647511, HY019085

Consensus CDS

CCDS74740.1

UniProtKB/TrEMBL

G3V2F7

Related

ENSP00000450635.2, ENST00000557021.5

Conserved Domains (1) summary

smart00212
Location:2 → 100

UBCc; Ubiquitin-conjugating enzyme E2, catalytic domain homologues
NM_001282580.2 → NP_001269509.1 ubiquitin-conjugating enzyme E2 variant 1 isoform i

See identical proteins and their annotated locations for NP_001269509.1

Status: REVIEWED

Description

Transcript Variant: This variant (18) has multiple differences in the coding region, compared to variant 1. The resulting protein (isoform i) has a distinct N- and C-termini and is shorter than isoform 1.

Source sequence(s)

AI688615, AL034423, BF446402, BF690501, BU934624, CF127653

Conserved Domains (1) summary

cl00154
Location:16 → 56

UBCc; Ubiquitin-conjugating enzyme E2, catalytic (UBCc) domain. This is part of the ubiquitin-mediated protein degradation pathway in which a thiol-ester linkage forms between a conserved cysteine and the C-terminus of ubiquitin and complexes with ubiquitin ...
NM_021988.6 → NP_068823.2 ubiquitin-conjugating enzyme E2 variant 1 isoform a

See identical proteins and their annotated locations for NP_068823.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longest isoform (a). Variants 1, 2 and 5 encode the same isoform.

Source sequence(s)

AK314754, BX647511, DA409547

Consensus CDS

CCDS13426.1

UniProtKB/Swiss-Prot

Q13404

Related

ENSP00000340305.3, ENST00000340309.7

Conserved Domains (1) summary

smart00212
Location:39 → 165

UBCc; Ubiquitin-conjugating enzyme E2, catalytic domain homologues
NM_022442.6 → NP_071887.1 ubiquitin-conjugating enzyme E2 variant 1 isoform c

See identical proteins and their annotated locations for NP_071887.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) differs in the 5' UTR, initiates translation at an alternate start codon and lacks an exon in the coding region, compared to variant 1. Variants 3 and 6 encode the same isoform (c), which is shorter and has a distinct N-terminus, compared to isoform a.

Source sequence(s)

AL034423

Consensus CDS

CCDS13427.1

UniProtKB/Swiss-Prot

Q13404

Conserved Domains (1) summary

cl00154
Location:3 → 98

UBCc; Ubiquitin-conjugating enzyme E2, catalytic (UBCc) domain. This is part of the ubiquitin-mediated protein degradation pathway in which a thiol-ester linkage forms between a conserved cysteine and the C-terminus of ubiquitin and complexes with ubiquitin ...
NM_199144.3 → NP_954595.1 ubiquitin-conjugating enzyme E2 variant 1 isoform a

See identical proteins and their annotated locations for NP_954595.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 5 encode the same isoform (a).

Source sequence(s)

BU540046, BX647511

Consensus CDS

CCDS13426.1

UniProtKB/Swiss-Prot

Q13404

Related

ENSP00000360742.3, ENST00000371677.7

Conserved Domains (1) summary

smart00212
Location:39 → 165

UBCc; Ubiquitin-conjugating enzyme E2, catalytic domain homologues

RNA

NR_047554.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (13) uses an alternate 5'-most exon and lacks an internal exon, compared to variant 1. This variant is represented as non-coding because it lacks a large portion of the coding region found in variant 4.

Source sequence(s)

BU934624, BX647511

Related

ENST00000396059.7
NR_104218.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (19) uses an alternate 5' and 3' exon structure, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AI688615, AL034423, BF446402, BF690501, BU934624, BX375182