SPOPL speckle type BTB/POZ protein like [Homo sapiens (human)] - Gene

Summary

Official Symbol: SPOPLprovided by HGNC
Official Full Name: speckle type BTB/POZ protein likeprovided by HGNC
Primary source: HGNC:HGNC:27934
See related: Ensembl:ENSG00000144228 AllianceGenome:HGNC:27934
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: BTBD33
Summary: Predicted to enable ubiquitin protein ligase binding activity. Involved in negative regulation of protein ubiquitination and proteasome-mediated ubiquitin-dependent protein catabolic process. Part of Cul3-RING ubiquitin ligase complex. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in appendix (RPKM 7.5), lymph node (RPKM 7.4) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 2q22.1

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (138501770..138573547)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (138947462..139019229)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (139259340..139331117)

Chromosome 2 - NC_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: 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?

SPOPL induces tumorigenicity and stemness in glioma stem cells by activating Notch signaling.
Title: SPOPL induces tumorigenicity and stemness in glioma stem cells by activating Notch signaling.
Together, the data indicate that a CUL3-SPOPL E3 ubiquitin ligase complex regulates endocytic trafficking and formation of multivesicular bodies by ubiquitinating and degrading EPS15 at endosomes.
Title: A SPOPL/Cullin-3 ubiquitin ligase complex regulates endocytic trafficking by targeting EPS15 at endosomes.

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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

EBI GWAS Catalog

Description
Genome-wide association study of patient-rated and clinician-rated global impression of severity during antipsychotic treatment. EBI GWAS Catalog EBI GWAS CatalogPubMed

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

D2S1795 (e-PCR)
- UniSTS:19723

SHGC-36231 (e-PCR)
- UniSTS:24367

WI-11856 (e-PCR)
- UniSTS:21093

WI-11168 (e-PCR)
- UniSTS:656

RH104408 (e-PCR)
- UniSTS:98733

D2S2867 (e-PCR)
- UniSTS:28923

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables ubiquitin protein ligase binding	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in negative regulation of protein ubiquitination	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in proteasome-mediated ubiquitin-dependent protein catabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in proteasome-mediated ubiquitin-dependent protein catabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein ubiquitination	IEA Inferred from Electronic Annotation more info
involved_in regulation of proteolysis	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
part_of Cul3-RING ubiquitin ligase complex	IDA Inferred from Direct Assay more info	PubMed
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: speckle-type POZ protein-like

Names: HIB homolog 2; roadkill homolog 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.

mRNA and Protein(s)

NM_001001664.3 → NP_001001664.1 speckle-type POZ protein-like

See identical proteins and their annotated locations for NP_001001664.1

Status: VALIDATED

Source sequence(s)

AC092620, AC114763

Consensus CDS

CCDS33298.1

UniProtKB/Swiss-Prot

Q6IQ16

Related

ENSP00000280098.4, ENST00000280098.9

Conserved Domains (3) summary

cd18343
Location:179 → 301

BTB_POZ_SPOPL; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in speckle-type POZ protein-like (SPOPL)

cd18519
Location:297 → 392

BACK_SPOPL; BACK (BTB and C-terminal Kelch) domain found in speckle-type POZ protein-like (SPOPL)

cl02446
Location:28 → 166

MATH; MATH (meprin and TRAF-C homology) domain; an independent folding unit with an eight-stranded beta-sandwich structure found in meprins, TRAFs and other proteins. Meprins comprise a class of extracellular metalloproteases which are anchored to the membrane ...