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

    Gene ID: 8405, updated on 27-Nov-2024

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See SPOP in Genome Data Viewer
    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_000017.11Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:47587751-47588401 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr17:47588857-47589824 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:47590890-47591665 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:47591666-47592440 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:47592441-47593216 Neighboring gene NGFR antisense RNA 1 Neighboring gene nerve growth factor receptor Neighboring gene microRNA 6165 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8671 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12365 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8672 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:47654119-47654649 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:47659009-47659562 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:47683760-47683957 Neighboring gene neurexophilin 3 Neighboring gene uncharacterized LOC107984999 Neighboring gene NANOG hESC enhancer GRCh37_chr17:47695165-47695679 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12366 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12367 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12368 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:47784629-47785262 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:47785263-47785896 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:47796530-47797090 Neighboring gene solute carrier family 35 member B1 Neighboring gene family with sequence similarity 117 member A Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12370 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8674 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8675 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:47865191-47865964 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12372 Neighboring gene lysine acetyltransferase 7

    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
    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

    EBI GWAS Catalog

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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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 
    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

    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
      B2R6S3, D3DTW7, O43791, Q53HJ1
      UniProtKB/TrEMBL
      A8KAI0
      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
      B2R6S3, D3DTW7, O43791, Q53HJ1
      UniProtKB/TrEMBL
      A8KAI0
      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
      B2R6S3, D3DTW7, O43791, Q53HJ1
      UniProtKB/TrEMBL
      A8KAI0
      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
      B2R6S3, D3DTW7, O43791, Q53HJ1
      UniProtKB/TrEMBL
      A8KAI0
      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
      B2R6S3, D3DTW7, O43791, Q53HJ1
      UniProtKB/TrEMBL
      A8KAI0
      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
      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: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
      Consensus CDS
      CCDS11551.1
      UniProtKB/Swiss-Prot
      B2R6S3, D3DTW7, O43791, Q53HJ1
      UniProtKB/TrEMBL
      A8KAI0
      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
      Consensus CDS
      CCDS11551.1
      UniProtKB/Swiss-Prot
      B2R6S3, D3DTW7, O43791, Q53HJ1
      UniProtKB/TrEMBL
      A8KAI0
      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
      B2R6S3, D3DTW7, O43791, Q53HJ1
      UniProtKB/TrEMBL
      A8KAI0
      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: 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

    1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

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

    mRNA and Protein(s)

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

      UniProtKB/Swiss-Prot
      B2R6S3, D3DTW7, O43791, Q53HJ1
      UniProtKB/TrEMBL
      A8KAI0
      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)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      50462011..50541274 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054317516.1XP_054173491.1  speckle-type POZ protein isoform X1

      UniProtKB/Swiss-Prot
      B2R6S3, D3DTW7, O43791, Q53HJ1