USP17L1 ubiquitin specific peptidase 17 like family member 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: USP17L1provided by HGNC
Official Full Name: ubiquitin specific peptidase 17 like family member 1provided by HGNC
Primary source: HGNC:HGNC:37182
See related: Ensembl:ENSG00000230549 AllianceGenome:HGNC:37182
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
Also known as: USP17L1P
Summary: Predicted to enable cysteine-type deubiquitinase activity. Predicted to be involved in protein deubiquitination and regulation of apoptotic process. Predicted to be located in endoplasmic reticulum. Predicted to be active in cytosol and nucleus. [provided by Alliance of Genome Resources, Nov 2024]
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Genomic context

Location:: 8p23.1

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	8	NC_000008.11 (7332387..7333979)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	8	NC_060932.1 (7061366..7062958)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	8	NC_000008.10 (7189909..7191501)

Chromosome 8 - NC_000008.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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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

G01912 (e-PCR)
- UniSTS:16665

G42601 (e-PCR)
- UniSTS:94504

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

NoName (e-PCR)
- UniSTS:484239

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables cysteine-type deubiquitinase activity	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in proteolysis	IEA Inferred from Electronic Annotation more info
involved_in regulation of apoptotic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of protein stability	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info
located_in endoplasmic reticulum	IEA Inferred from Electronic Annotation more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: ubiquitin carboxyl-terminal hydrolase 17-like protein 1

Names: deubiquitinating enzyme 17-like protein 1; putative ubiquitin carboxyl-terminal hydrolase 17-like protein 1; ubiquitin thioesterase 17-like protein 1; ubiquitin-specific-processing protease 17-like protein 1

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_001256873.1 → NP_001243802.1 ubiquitin carboxyl-terminal hydrolase 17-like protein 1

See identical proteins and their annotated locations for NP_001243802.1

Status: INFERRED

Source sequence(s)

AF228730

Consensus CDS

CCDS78298.1

UniProtKB/Swiss-Prot

Q7RTZ2

UniProtKB/TrEMBL

A0AAG2TM82

Related

ENSP00000485364.1, ENST00000529559.1

Conserved Domains (3) 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 ...

pfam00443
Location:80 → 372

UCH; Ubiquitin carboxyl-terminal hydrolase

pfam04774
Location:426 → 454

HABP4_PAI-RBP1; Hyaluronan / mRNA binding family

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000008.11 Reference GRCh38.p14 Primary Assembly

Range

7332387..7333979

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GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 PATCHES

Genomic

NW_018654717.1 Reference GRCh38.p14 PATCHES

Range

5574835..5576427 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

NC_060932.1 Alternate T2T-CHM13v2.0

Range

7061366..7062958

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GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NG_016610.2: Suppressed sequence

Description

NG_016610.2: This RefSeq was permanently suppressed because it is now thought that this gene does encode a protein.
NM_001001324.1: Suppressed sequence

Description

NM_001001324.1: This RefSeq record was removed by NCBI staff. Contact info@ncbi.nlm.nih.gov for further information.