1. Gene
  2. SPOP - speckle type BTB/POZ protein Gene

SPOP - speckle type BTB/POZ protein Gene

Homo sapiens

Also known as TEF2; BTBD32; NSDVS1; NSDVS2; NEDMACE; NEDMIDF

Gene ID: 8405 | Gene type: protein coding

About SPOP

Cytogenetic location: 17q21.33 Genomic coordinates (GRCh38): 17:49,598,884-49,678,163 (from NCBI)

This gene has 25 transcripts (splice variants), 340 orthologues, 11 paralogues and is associated with 91 phenotypes. Ubiquitous expression in prostate (RPKM 17.8), esophagus (RPKM 16.2) and 25 other tissues.

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]

SPOP Products(9)

mRNA Protein Name
NM_001007226.1 NP_001007227.1 speckle-type POZ protein
NM_001007227.1 NP_001007228.1 speckle-type POZ protein
NM_001007228.2 NP_001007229.1 speckle-type POZ protein
NM_001007229.1 NP_001007230.1 speckle-type POZ protein
NM_001007230.1 NP_001007231.1 speckle-type POZ protein
NM_001370730.1 NP_001357659.1 speckle-type POZ protein
NM_001370731.1 NP_001357660.1 speckle-type POZ protein
NM_001370732.1 NP_001357661.1 speckle-type POZ protein
NM_003563.3 NP_003554.1 speckle-type POZ protein
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables identical protein binding IPI
IPI: Inferred from physical interaction
22632832 GOA
enables molecular function inhibitor activity EXP
EXP: Inferred from Experiment
31624231 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
16189514 GOA
enables ubiquitin protein ligase binding IPI
IPI: Inferred from physical interaction
11279055 GOA
Biological Process GO Annotation Evidence Reference Source
involved in proteasome-mediated ubiquitin-dependent protein catabolic process IMP
IMP: Inferred from mutant phenotype
22085717 GOA
involved in protein polyubiquitination IDA
IDA: Inferred from direct assay
14528312 GOA
Cellular Component GO Annotation Evidence Reference Source
part of Cul3-RING ubiquitin ligase complex IDA
IDA: Inferred from direct assay
14528312 GOA
located in nucleus IDA
IDA: Inferred from direct assay
22085717 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SPOP Protein Structure

MATH

MATH: MATH domain (38 - 163)

BTB

BTB: BTB/POZ domain (193 - 296)

  • 0
  • 100
  • 200
  • 300
  • 374 a.a.
Protein Preferred Names Protein Names

speckle-type POZ protein

HIB homolog 1

Related Diseases

Diseases Alias
Nabais Sa-De Vries Syndrome, Type 1

Neurodevelopmental Disorder With Microcephaly And Dysmorphic Facies

NSDVS1

Nedmidf

Nabais Sa-De Vries Syndrome 1

Nabais Sa-De Vries Syndrome, Type 2

Neurodevelopmental Disorder With Relative Macrocephaly And With Or Without Cardiac Or Endocrine Anomalies

NSDVS2

Nedmace

Nabais Sa-De Vries Syndrome 2

Suppression Of Tumorigenicity 12

Prostate Adenocarcinoma

Adenocarcinoma Of Prostate

ST12

Prostate Adenocarcinoma 1

Pac1

Uterine Corpus Endometrial Carcinoma
Joubert Syndrome 32

JBTS32

Prostate Cancer

Prostate Carcinoma

Prostate Cancer, Familial

Prostate Neoplasm

Prostate Cancer, Somatic

Prostate Cancer, Susceptibility To

Prostatic Cancer

Prostatic Neoplasms

Hereditary Prostate Cancer

Prostatic Neoplasm

Cancer Of Prostate

Carcinoma Of Prostate

Familial Prostate Cancer

Familial Prostate Carcinoma

Malignant Tumor Of Prostate

Malignant Neoplasm Of Prostate

Prostate Cancer, Familial, Susceptibility To

Malignant Tumor Of The Prostate

Ngp - New Growth Of Prostate

Tumor Of The Prostate

Prostate Cancer, Hereditary

Cancer Of The Prostate

Malignant Neoplasm Of The Prostate

Prostatic Carcinoma

PC

Prca

Cancer, Prostate

Malignant Prostatic Tumour

Malignant Tumour Of Prostate

Primary Prostate Cancer

Primary Malignant Neoplasm Of Prostate

Prostate Gland Cancer

Primary Cutaneous Amyloidosis

Plca

Primary Localized Cutaneous Amyloidosis

Familial Primary Localized Cutaneous Amyloidosis

Amyloidosis Ix

Lichen Amyloidosis Familial

Amyloidosis, Primary Cutaneous

Pca

Amyloidosis 9

Amyloidosis Familial Cutaneous Lichen

Fplca

Familial Lichen Amyloidosis

Microcephaly

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Felis catus SPOP VGNC VGNC:65643
Mus musculus SPOP MGD MGI:1343085
Bos taurus SPOP VGNC VGNC:35229
Rattus norvegicus SPOP RGD RGD:1311613
Canis familiaris SPOP VGNC VGNC:46753
Macaca mulatta SPOP VGNC VGNC:77863
Others SPOP NCBI