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

Gene ID: 8405, updated on 8-Jul-2019

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
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
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

Genomic context

See SPOP in Genome Data Viewer
Location:
17q21.33
Exon count:
16
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (49598884..49678163, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (47676246..47755525, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC100288866 Neighboring gene nerve growth factor receptor Neighboring gene microRNA 6165 Neighboring gene neurexophilin 3 Neighboring gene uncharacterized LOC107984999 Neighboring gene solute carrier family 35 member B1 Neighboring gene family with sequence similarity 117 member A

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

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

Pathways from BioSystems

  • Cul3-SPOP complex, organism-specific biosystem (from KEGG)
    Cul3-SPOP complex, organism-specific biosystemStructural complex; Genetic information processing; Ubiquitin system
  • Cul3-SPOP complex, conserved biosystem (from KEGG)
    Cul3-SPOP complex, conserved biosystemStructural complex; Genetic information processing; Ubiquitin system
  • Hedgehog 'on' state, organism-specific biosystem (from REACTOME)
    Hedgehog 'on' state, organism-specific biosystemHedgehog is a secreted morphogen that has evolutionarily conserved roles in body organization by regulating the activity of the Ci/Gli transcription factor family. In Drosophila in the absence of Hh ...
  • Hedgehog signaling events mediated by Gli proteins, organism-specific biosystem (from Pathway Interaction Database)
    Hedgehog signaling events mediated by Gli proteins, organism-specific biosystem
    Hedgehog signaling events mediated by Gli proteins
  • Hedgehog signaling pathway, organism-specific biosystem (from KEGG)
    Hedgehog signaling pathway, organism-specific biosystemThe Hedgehog (Hh) signaling pathway has numerous roles in the control of cell proliferation, tissue patterning, stem cell maintenance and development. The primary cilium is an important center for tr...
  • Hedgehog signaling pathway, conserved biosystem (from KEGG)
    Hedgehog signaling pathway, conserved biosystemThe Hedgehog (Hh) signaling pathway has numerous roles in the control of cell proliferation, tissue patterning, stem cell maintenance and development. The primary cilium is an important center for tr...
  • Signal Transduction, organism-specific biosystem (from REACTOME)
    Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
  • Signaling by Hedgehog, organism-specific biosystem (from REACTOME)
    Signaling by Hedgehog, organism-specific biosystemHedgehog (Hh) is a secreted morphogen that regulates developmental processes in vertebrates including limb bud formation, neural tube patterning, cell growth and differentiation (reviewed in Hui and ...
  • mRNA Processing, organism-specific biosystem (from WikiPathways)
    mRNA Processing, organism-specific biosystemThis process describes the conversion of precursor messenger RNA into mature messenger RNA (mRNA). The pre-mRNA molecule undergoes three main modifications. These modifications are 5' capping, 3' po...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
ubiquitin protein ligase binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ubiquitin protein ligase binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
proteasome-mediated ubiquitin-dependent protein catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
proteasome-mediated ubiquitin-dependent protein catabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein ubiquitination IEA
Inferred from Electronic Annotation
more info
 
regulation of proteolysis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ubiquitin-dependent protein catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
Cul3-RING ubiquitin ligase complex IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nuclear speck IEA
Inferred from Electronic Annotation
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
speckle-type POZ protein
Names
HIB homolog 1
roadkill homolog 1

NCBI Reference Sequences (RefSeq)

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

  1. NG_041815.1 RefSeqGene

    Range
    5067..84280
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001007226.1NP_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
    O43791
    Related
    ENSP00000424119.2, ENST00000514121.6
    Conserved Domains (3) summary
    cd03774
    Location:28166
    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:182301
    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:297367
    BACK_SPOP; BACK (BTB and C-terminal Kelch) domain found in speckle-type POZ protein (SPOP)
  2. NM_001007227.1NP_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
    O43791
    Conserved Domains (3) summary
    cd03774
    Location:28166
    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:182301
    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:297367
    BACK_SPOP; BACK (BTB and C-terminal Kelch) domain found in speckle-type POZ protein (SPOP)
  3. NM_001007228.2NP_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
    O43791
    Related
    ENSP00000425905.1, ENST00000504102.6
    Conserved Domains (3) summary
    cd03774
    Location:28166
    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:182301
    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:297367
    BACK_SPOP; BACK (BTB and C-terminal Kelch) domain found in speckle-type POZ protein (SPOP)
  4. NM_001007229.1NP_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
    O43791
    Related
    ENSP00000240327.2, ENST00000347630.6
    Conserved Domains (3) summary
    cd03774
    Location:28166
    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:182301
    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:297367
    BACK_SPOP; BACK (BTB and C-terminal Kelch) domain found in speckle-type POZ protein (SPOP)
  5. NM_001007230.1NP_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
    O43791
    Related
    ENSP00000426986.2, ENST00000509079.6
    Conserved Domains (3) summary
    cd03774
    Location:28166
    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:182301
    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:297367
    BACK_SPOP; BACK (BTB and C-terminal Kelch) domain found in speckle-type POZ protein (SPOP)
  6. NM_001370730.1NP_001357659.1  speckle-type POZ protein

    Status: REVIEWED

    Source sequence(s)
    AC006487
    Related
    ENSP00000420908.1, ENST00000503676.5
    Conserved Domains (3) summary
    cd03774
    Location:28166
    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:182301
    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:297367
    BACK_SPOP; BACK (BTB and C-terminal Kelch) domain found in speckle-type POZ protein (SPOP)
  7. NM_001370731.1NP_001357660.1  speckle-type POZ protein

    Status: REVIEWED

    Source sequence(s)
    AC006487
    Conserved Domains (3) summary
    cd03774
    Location:28166
    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:182301
    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:297367
    BACK_SPOP; BACK (BTB and C-terminal Kelch) domain found in speckle-type POZ protein (SPOP)
  8. NM_001370732.1NP_001357661.1  speckle-type POZ protein

    Status: REVIEWED

    Source sequence(s)
    AC006487
    Conserved Domains (3) summary
    cd03774
    Location:28166
    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:182301
    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:297367
    BACK_SPOP; BACK (BTB and C-terminal Kelch) domain found in speckle-type POZ protein (SPOP)
  9. NM_003563.3NP_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
    O43791
    Related
    ENSP00000377001.2, ENST00000393328.6
    Conserved Domains (3) summary
    cd03774
    Location:28166
    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:182301
    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:297367
    BACK_SPOP; BACK (BTB and C-terminal Kelch) domain found in speckle-type POZ protein (SPOP)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

    Range
    49598884..49678163 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    Conserved Domains (3) summary
    cd03774
    Location:28166
    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:182301
    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:297367
    BACK_SPOP; BACK (BTB and C-terminal Kelch) domain found in speckle-type POZ protein (SPOP)
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