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

Summary

Official Symbol: SPOPprovided by HGNC
Official Full Name: speckle type BTB/POZ proteinprovided by HGNC
Primary source: HGNC:HGNC:11254
See related: Ensembl:ENSG00000121067 MIM:602650; AllianceGenome:HGNC:11254
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: TEF2; BTBD32; NSDVS1; NSDVS2; NEDMACE; NEDMIDF
Summary: This gene encodes a protein that may modulate the transcriptional repression activities of death-associated protein 6 (DAXX), which interacts with histone deacetylase, core histones, and other histone-associated proteins. In mouse, the encoded protein binds to the putative leucine zipper domain of macroH2A1.2, a variant H2A histone that is enriched on inactivated X chromosomes. The BTB/POZ domain of this protein has been shown in other proteins to mediate transcriptional repression and to interact with components of histone deacetylase co-repressor complexes. Alternative splicing of this gene results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in prostate (RPKM 17.8), esophagus (RPKM 16.2) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 17q21.33

Exon count:: 16

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (49598884..49678163, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (50462011..50541274, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (47676246..47755525, complement)

Chromosome 17 - NC_000017.11 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

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

SPOP downregulation promotes bladder cancer progression based on cancer cell-macrophage crosstalk via STAT3/CCL2/IL-6 axis and is regulated by VEZF1.
Title: SPOP downregulation promotes bladder cancer progression based on cancer cell-macrophage crosstalk via STAT3/CCL2/IL-6 axis and is regulated by VEZF1.
ELK3 destabilization by speckle-type POZ protein suppresses prostate cancer progression and docetaxel resistance.
Title: ELK3 destabilization by speckle-type POZ protein suppresses prostate cancer progression and docetaxel resistance.
CSN6-SPOP-HMGCS1 Axis Promotes Hepatocellular Carcinoma Progression via YAP1 Activation.
Title: CSN6-SPOP-HMGCS1 Axis Promotes Hepatocellular Carcinoma Progression via YAP1 Activation.
Genetic Profiling of African American Patients With Prostatic Adenocarcinoma Metastatic to the Lymph Nodes: A Pilot Study.
Title: Genetic Profiling of African American Patients With Prostatic Adenocarcinoma Metastatic to the Lymph Nodes: A Pilot Study.
BCLAF1 binds SPOP to stabilize PD-L1 and promotes the development and immune escape of hepatocellular carcinoma.
Title: BCLAF1 binds SPOP to stabilize PD-L1 and promotes the development and immune escape of hepatocellular carcinoma.
Deficiency in SPOP-mediated ubiquitination and degradation of TIAM1 promotes gastric cancer progression.
Title: Deficiency in SPOP-mediated ubiquitination and degradation of TIAM1 promotes gastric cancer progression.
Ubiquitin E3 ligase SPOP is a host negative regulator of enterovirus 71-encoded 2A protease.
Title: Ubiquitin E3 ligase SPOP is a host negative regulator of enterovirus 71-encoded 2A protease.
SPOP promotes CREB5 ubiquitination to inhibit MET signaling in liver cancer.
Title: SPOP promotes CREB5 ubiquitination to inhibit MET signaling in liver cancer.
Reduction of oligomer size modulates the competition between cluster formation and phase separation of the tumor suppressor SPOP.
Title: Reduction of oligomer size modulates the competition between cluster formation and phase separation of the tumor suppressor SPOP.
SPOP inhibits HBV transcription and replication by ubiquitination and degradation of HNF1alpha.
Title: SPOP inhibits HBV transcription and replication by ubiquitination and degradation of HNF1α.

Submit: New GeneRIF Correction See all GeneRIFs (135)

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

Associated conditions

Description	Tests
Neurodevelopmental disorder with microcephaly and dysmorphic facies MedGen: C5394218 OMIM: 618828 GeneReviews: Not available	Compare labs
Neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies MedGen: C5394221 OMIM: 618829 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array. 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

RH102186 (e-PCR)
- UniSTS:96520

WI-16848 (e-PCR)
- UniSTS:61975

L18236 (e-PCR)
- UniSTS:42789

D17S1671 (e-PCR)
- UniSTS:66125

G67888 (e-PCR)
- UniSTS:225617

L18224 (e-PCR)
- UniSTS:9065

SHGC-34743 (e-PCR)
- UniSTS:18816

RH35962 (e-PCR)
- UniSTS:71316

MARC_9787-9788:996688611:1 (e-PCR)
- UniSTS:270001

WI-11042 (e-PCR)
- UniSTS:20443

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables molecular function inhibitor activity	EXP Inferred from Experiment more info	PubMed
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
enables ubiquitin protein ligase binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
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 polyubiquitination	IDA Inferred from Direct Assay more info	PubMed
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
located_in nuclear speck	IEA Inferred from Electronic Annotation more info
located_in nucleoplasm	TAS Traceable Author Statement more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: speckle-type POZ protein

Names: HIB homolog 1; roadkill homolog 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.

Genomic

NG_041815.1 RefSeqGene

Range

5067..84280

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_1412

mRNA and Protein(s)

NM_001007226.1 → NP_001007227.1 speckle-type POZ protein

See identical proteins and their annotated locations for NP_001007227.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript. Transcript variants 1-6 encode the same protein.

Source sequence(s)

AK123385, AW449169, BC001269, BM693397, BQ226031, BX282325, W84567

Consensus CDS

CCDS11551.1

UniProtKB/Swiss-Prot

B2R6S3, D3DTW7, O43791, Q53HJ1

UniProtKB/TrEMBL

A8KAI0

Related

ENSP00000424119.2, ENST00000514121.6

Conserved Domains (3) summary

cd03774
Location:28 → 166

MATH_SPOP; Speckle-type POZ protein (SPOP) family, MATH domain; composed of proteins with similarity to human SPOP. SPOP was isolated as a novel antigen recognized by serum from a scleroderma patient, whose overexpression in COS cells results in a discrete speckled ...

cd18279
Location:182 → 301

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

cd18518
Location:297 → 367

BACK_SPOP; BACK (BTB and C-terminal Kelch) domain found in speckle-type POZ protein (SPOP)
NM_001007227.1 → NP_001007228.1 speckle-type POZ protein

See identical proteins and their annotated locations for NP_001007228.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Transcript variants 1-6 encode the same protein.

Source sequence(s)

AK123385, AW449169, BC001269, BM693397, BQ226031, BX282325, W84567

Consensus CDS

CCDS11551.1

UniProtKB/Swiss-Prot

B2R6S3, D3DTW7, O43791, Q53HJ1

UniProtKB/TrEMBL

A8KAI0

Conserved Domains (3) summary

cd03774
Location:28 → 166

MATH_SPOP; Speckle-type POZ protein (SPOP) family, MATH domain; composed of proteins with similarity to human SPOP. SPOP was isolated as a novel antigen recognized by serum from a scleroderma patient, whose overexpression in COS cells results in a discrete speckled ...

cd18279
Location:182 → 301

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

cd18518
Location:297 → 367

BACK_SPOP; BACK (BTB and C-terminal Kelch) domain found in speckle-type POZ protein (SPOP)
NM_001007228.2 → NP_001007229.1 speckle-type POZ protein

See identical proteins and their annotated locations for NP_001007229.1

Status: REVIEWED

Description

Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 1. Transcript variants 1-6 encode the same protein.

Source sequence(s)

AK123385, AW449169, BC001269, BM693397, BQ226031, BX282325, W84567

Consensus CDS

CCDS11551.1

UniProtKB/Swiss-Prot

B2R6S3, D3DTW7, O43791, Q53HJ1

UniProtKB/TrEMBL

A8KAI0

Related

ENSP00000425905.1, ENST00000504102.6

Conserved Domains (3) summary

cd03774
Location:28 → 166

MATH_SPOP; Speckle-type POZ protein (SPOP) family, MATH domain; composed of proteins with similarity to human SPOP. SPOP was isolated as a novel antigen recognized by serum from a scleroderma patient, whose overexpression in COS cells results in a discrete speckled ...

cd18279
Location:182 → 301

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

cd18518
Location:297 → 367

BACK_SPOP; BACK (BTB and C-terminal Kelch) domain found in speckle-type POZ protein (SPOP)
NM_001007229.1 → NP_001007230.1 speckle-type POZ protein

See identical proteins and their annotated locations for NP_001007230.1

Status: REVIEWED

Description

Transcript Variant: This variant (6) differs in the 5' UTR compared to variant 1. Transcript variants 1-6 encode the same protein.

Source sequence(s)

AK123385, AW449169, BC001269, BM693397, BQ226031, BX282325, CB992730, W84567

Consensus CDS

CCDS11551.1

UniProtKB/Swiss-Prot

B2R6S3, D3DTW7, O43791, Q53HJ1

UniProtKB/TrEMBL

A8KAI0

Related

ENSP00000240327.2, ENST00000347630.6

Conserved Domains (3) summary

cd03774
Location:28 → 166

MATH_SPOP; Speckle-type POZ protein (SPOP) family, MATH domain; composed of proteins with similarity to human SPOP. SPOP was isolated as a novel antigen recognized by serum from a scleroderma patient, whose overexpression in COS cells results in a discrete speckled ...

cd18279
Location:182 → 301

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

cd18518
Location:297 → 367

BACK_SPOP; BACK (BTB and C-terminal Kelch) domain found in speckle-type POZ protein (SPOP)
NM_001007230.1 → NP_001007231.1 speckle-type POZ protein

See identical proteins and their annotated locations for NP_001007231.1

Status: REVIEWED

Description

Transcript Variant: This variant (5) differs in the 5' UTR compared to variant 1. Transcript variants 1-6 encode the same protein.

Source sequence(s)

AK123385, AW449169, BC001269, BM693397, BQ226031, BX282325, CB992730, W84567

Consensus CDS

CCDS11551.1

UniProtKB/Swiss-Prot

B2R6S3, D3DTW7, O43791, Q53HJ1

UniProtKB/TrEMBL

A8KAI0

Related

ENSP00000426986.2, ENST00000509079.6

Conserved Domains (3) summary

cd03774
Location:28 → 166

MATH_SPOP; Speckle-type POZ protein (SPOP) family, MATH domain; composed of proteins with similarity to human SPOP. SPOP was isolated as a novel antigen recognized by serum from a scleroderma patient, whose overexpression in COS cells results in a discrete speckled ...

cd18279
Location:182 → 301

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

cd18518
Location:297 → 367

BACK_SPOP; BACK (BTB and C-terminal Kelch) domain found in speckle-type POZ protein (SPOP)
NM_001370730.1 → NP_001357659.1 speckle-type POZ protein

Status: REVIEWED

Source sequence(s)

AC006487

Consensus CDS

CCDS11551.1

UniProtKB/Swiss-Prot

B2R6S3, D3DTW7, O43791, Q53HJ1

UniProtKB/TrEMBL

A8KAI0

Related

ENSP00000420908.1, ENST00000503676.5

Conserved Domains (3) summary

cd03774
Location:28 → 166

MATH_SPOP; Speckle-type POZ protein (SPOP) family, MATH domain; composed of proteins with similarity to human SPOP. SPOP was isolated as a novel antigen recognized by serum from a scleroderma patient, whose overexpression in COS cells results in a discrete speckled ...

cd18279
Location:182 → 301

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

cd18518
Location:297 → 367

BACK_SPOP; BACK (BTB and C-terminal Kelch) domain found in speckle-type POZ protein (SPOP)
NM_001370731.1 → NP_001357660.1 speckle-type POZ protein

Status: REVIEWED

Source sequence(s)

AC006487

Consensus CDS

CCDS11551.1

UniProtKB/Swiss-Prot

B2R6S3, D3DTW7, O43791, Q53HJ1

UniProtKB/TrEMBL

A8KAI0

Conserved Domains (3) summary

cd03774
Location:28 → 166

MATH_SPOP; Speckle-type POZ protein (SPOP) family, MATH domain; composed of proteins with similarity to human SPOP. SPOP was isolated as a novel antigen recognized by serum from a scleroderma patient, whose overexpression in COS cells results in a discrete speckled ...

cd18279
Location:182 → 301

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

cd18518
Location:297 → 367

BACK_SPOP; BACK (BTB and C-terminal Kelch) domain found in speckle-type POZ protein (SPOP)
NM_001370732.1 → NP_001357661.1 speckle-type POZ protein

Status: REVIEWED

Source sequence(s)

AC006487

Consensus CDS

CCDS11551.1

UniProtKB/Swiss-Prot

B2R6S3, D3DTW7, O43791, Q53HJ1

UniProtKB/TrEMBL

A8KAI0

Conserved Domains (3) summary

cd03774
Location:28 → 166

MATH_SPOP; Speckle-type POZ protein (SPOP) family, MATH domain; composed of proteins with similarity to human SPOP. SPOP was isolated as a novel antigen recognized by serum from a scleroderma patient, whose overexpression in COS cells results in a discrete speckled ...

cd18279
Location:182 → 301

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

cd18518
Location:297 → 367

BACK_SPOP; BACK (BTB and C-terminal Kelch) domain found in speckle-type POZ protein (SPOP)
NM_003563.3 → NP_003554.1 speckle-type POZ protein

See identical proteins and their annotated locations for NP_003554.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Transcript variants 1-6 encode the same protein.

Source sequence(s)

AK123385, AW449169, BC001269, BM693397, BQ226031, BX282325, W84567

Consensus CDS

CCDS11551.1

UniProtKB/Swiss-Prot

B2R6S3, D3DTW7, O43791, Q53HJ1

UniProtKB/TrEMBL

A8KAI0

Related

ENSP00000377001.2, ENST00000393328.6

Conserved Domains (3) summary

cd03774
Location:28 → 166

MATH_SPOP; Speckle-type POZ protein (SPOP) family, MATH domain; composed of proteins with similarity to human SPOP. SPOP was isolated as a novel antigen recognized by serum from a scleroderma patient, whose overexpression in COS cells results in a discrete speckled ...

cd18279
Location:182 → 301

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

cd18518
Location:297 → 367

BACK_SPOP; BACK (BTB and C-terminal Kelch) domain found in speckle-type POZ protein (SPOP)

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_000017.11 Reference GRCh38.p14 Primary Assembly

Range

49598884..49678163 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_024450995.2 → XP_024306763.1 speckle-type POZ protein isoform X1

UniProtKB/Swiss-Prot

B2R6S3, D3DTW7, O43791, Q53HJ1

UniProtKB/TrEMBL

A8KAI0

Conserved Domains (3) summary

cd03774
Location:28 → 166

MATH_SPOP; Speckle-type POZ protein (SPOP) family, MATH domain; composed of proteins with similarity to human SPOP. SPOP was isolated as a novel antigen recognized by serum from a scleroderma patient, whose overexpression in COS cells results in a discrete speckled ...

cd18279
Location:182 → 301

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

cd18518
Location:297 → 367

BACK_SPOP; BACK (BTB and C-terminal Kelch) domain found in speckle-type POZ protein (SPOP)