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

Gene ID: 8405, updated on 12-Nov-2024

Summary

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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

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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

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues 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?
  1. 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.
  2. 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.
  3. CSN6-SPOP-HMGCS1 Axis Promotes Hepatocellular Carcinoma Progression via YAP1 Activation.
    Title: CSN6-SPOP-HMGCS1 Axis Promotes Hepatocellular Carcinoma Progression via YAP1 Activation.
  4. 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.
  5. 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.
  6. 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.
  7. 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.
  8. SPOP promotes CREB5 ubiquitination to inhibit MET signaling in liver cancer.
    Title: SPOP promotes CREB5 ubiquitination to inhibit MET signaling in liver cancer.
  9. 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.
  10. 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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Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

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

  1. NG_041815.1 RefSeqGene

    Range
    5067..84280
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_1412

mRNA and Protein(s)

  1. 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)

  2. 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)

  3. 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)

  4. 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)

  5. 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)

  6. 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)

  7. 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)

  8. 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)

  9. 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

  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_024450995.2 → 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)

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_054317516.1 → XP_054173491.1  speckle-type POZ protein isoform X1

    UniProtKB/Swiss-Prot
    B2R6S3, D3DTW7, O43791, Q53HJ1
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O43791.1 GenPept UniProtKB/Swiss-Prot:O43791

Gene LinkOut

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