USP17L30 ubiquitin specific peptidase 17 like family member 30 [Homo sapiens (human)] - Gene

Summary

Official Symbol: USP17L30provided by HGNC
Official Full Name: ubiquitin specific peptidase 17 like family member 30provided by HGNC
Primary source: HGNC:HGNC:44458
See related: Ensembl:ENSG00000228856 AllianceGenome:HGNC:44458
Gene type: protein coding
RefSeq status: INFERRED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary: Enables RNA binding activity; cysteine-type deubiquitinase activity; and hyaluronic acid binding activity. Involved in positive regulation of epithelial cell apoptotic process and protein deubiquitination involved in ubiquitin-dependent protein catabolic process. Located in nucleolus. [provided by Alliance of Genome Resources, Dec 2024]
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Genomic context

Location:: 4p16.1

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	4	NC_000004.12 (9363129..9364721)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	4	NC_060928.1 (9383651..9385243)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	4	NC_000004.11 (9364855..9366447)

Chromosome 4 - NC_000004.12 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)

General gene information

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Markers

G01912 (e-PCR)
- UniSTS:16665

G42601 (e-PCR)
- UniSTS:94504

SHGC-145429 (e-PCR)
- UniSTS:183854

NoName (e-PCR)
- UniSTS:484239

G34441 (e-PCR)
- UniSTS:65683

G01806 (e-PCR)
- UniSTS:24811

General protein information

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Preferred Names: ubiquitin specific peptidase 17 like family member 30

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)

NM_001256867.1 → NP_001243796.1 ubiquitin specific peptidase 17 like family member 30

See identical proteins and their annotated locations for NP_001243796.1

Status: INFERRED

Source sequence(s)

AC116655

Consensus CDS

CCDS59471.1

UniProtKB/Swiss-Prot

A8MRA9, Q0WX56, Q0WX57, Q3BEM1

UniProtKB/TrEMBL

A0AAG2TI18

Related

ENSP00000422887.1, ENST00000504104.1

Conserved Domains (2) summary

cd02661
Location:79 → 373

Peptidase_C19E; A subfamily of Peptidase C19. Peptidase C19 contains ubiquitinyl hydrolases. They are intracellular peptidases that remove ubiquitin molecules from polyubiquinated peptides by cleavage of isopeptide bonds. They hydrolyze bonds involving the carboxyl ...

pfam04774
Location:430 → 454

HABP4_PAI-RBP1; Hyaluronan / mRNA binding family