UBE2NL ubiquitin conjugating enzyme E2 N like (gene/pseudogene) [Homo sapiens (human)] - Gene

Summary

Official Symbol: UBE2NLprovided by HGNC
Official Full Name: ubiquitin conjugating enzyme E2 N like (gene/pseudogene)provided by HGNC
Primary source: HGNC:HGNC:31710
See related: Ensembl:ENSG00000276380 AllianceGenome:HGNC:31710
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: Li174
Summary: This gene is intronless and encodes a member of the ubiquitin-conjugating enzyme family. The protein product is 91% identical to ubiquitin-conjugating enzyme E2N, a multi-exon gene product. This locus represents a polymorphic pseudogene, where some individuals contain an allele that can encode a full-length protein, while others have a non-functional allele containing a premature stop codon (reference SNP rs237520) that truncates the coding sequence. [provided by RefSeq, Jun 2014]
Annotation information: Annotation category: suggests misassembly; Note: Genetic polymorphisms result in both protein coding and non-coding alleles of this gene.
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Genomic context

Location:: Xq27.3

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (143884071..143885255)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (142189090..142190279)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (142967173..142968362)

Chromosome X - NC_000023.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Submit: New GeneRIF Correction

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH80774 (e-PCR)
- UniSTS:88923

DXS7902 (e-PCR)
- UniSTS:98939

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ubiquitin conjugating enzyme activity	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
NOT involved_in postreplication repair	IBA Inferred from Biological aspect of Ancestor more info
NOT involved_in protein K63-linked ubiquitination	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein polyubiquitination	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in extracellular exosome	HDA more info	PubMed
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: putative ubiquitin-conjugating enzyme E2 N-like

Names: epididymis tissue protein Li 174; ubiquitin conjugating enzyme E2N-like

NP_001013007.1

EC 6.3.2.-

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_016268.2 RefSeqGene

Range

5000..6184

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001012989.3 → NP_001013007.1 putative ubiquitin-conjugating enzyme E2 N-like

See identical proteins and their annotated locations for NP_001013007.1

Status: REVIEWED

Source sequence(s)

AL109622

UniProtKB/Swiss-Prot

E9KL27, Q5JXB2

Conserved Domains (2) summary

COG5078
Location:7 → 151

COG5078; Ubiquitin-protein ligase [Posttranslational modification, protein turnover, chaperones]

cl00154
Location:4 → 152

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 ...

RNA

NR_121210.1 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (non-coding) represents the non-functional allele, which contains a nonsense polymorphism (reference SNP rs237520) that truncates the coding sequence found in the coding variant.

Source sequence(s)

AL135920, GU727624

Related

ENST00000618570.1