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

Gene ID: 8405, updated on 23-Nov-2021

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; 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
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Genomic context

See SPOP in Genome Data Viewer
Location:
17q21.33
Exon count:
16
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (49598884..49678163, complement)
105.20201022 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 Sharpr-MPRA regulatory region 8308 Neighboring gene NGFR antisense RNA 1 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 Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array.
GeneReviews: Not available
Neurodevelopmental disorder with microcephaly and dysmorphic facies
MedGen: C5394218 OMIM: 618828 GeneReviews: Not available
not available
Neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies
MedGen: C5394221 OMIM: 618829 GeneReviews: Not available
not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

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
PubMed 
enables ubiquitin protein ligase binding IPI
Inferred from Physical Interaction
more info
PubMed 
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
PubMed 
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
PubMed 
located_in 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)

NEW Try the new Transcript table

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), LRG_1412

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 Updated Annotation Release 109.20211119

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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