P83916

PR
Gene name
CBX1 (CBX)
Protein name
Chromobox protein homolog 1
Names
HP1Hsbeta, Heterochromatin protein 1 homolog beta, HP1 beta, Heterochromatin protein p25, M31, Modifier 1 protein, p25beta
Species
Homo sapiens (Human)
KEGG Pathway
hsa:10951
EC number
Protein Class

Descriptions

The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.

Autoinhibitory domains (AIDs)

26-144 (Predicted disordered autoinhibitory region) PR

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

References

Autoinhibited structure

Activated structure

7 structures for P83916

Entry ID Method Resolution Chain Position Source
2FMM X-ray 180 A A/B/C/D 104-175 PDB
3F2U X-ray 180 A A 20-73 PDB
3Q6S X-ray 193 A A/B/C/D 108-185 PDB
5T1G X-ray 190 A A 108-185 PDB
6D07 X-ray 210 A A/B 20-73 PDB
6D08 X-ray 210 A A/B 20-73 PDB
AF-P83916-F1 Predicted AlphaFoldDB

65 variants for P83916

Variant ID(s) Position Change Description Diseaes Association Provenance
rs1273061679
CA400066333
 2 G>V No ClinGen
gnomAD
CA400066228
rs1194826901
 5 Q>K No ClinGen
TOPMed
CA291310336
rs1016000584
 5 Q>L No ClinGen
Ensembl
CA8630937
rs762873265
 7 K>N No ClinGen
ExAC
gnomAD
rs1290187165
CA400066099
 9 K>R No ClinGen
TOPMed
TCGA novel 9 K>W Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs775410359
CA8630936
 10 V>M No ClinGen
ExAC
TOPMed
rs1598304509
CA400066017
 11 E>D No ClinGen
Ensembl
rs1218763751
CA400065991
 13 V>M No ClinGen
TOPMed
CA400065917
rs1294002108
 17 E>Q No ClinGen
gnomAD
CA291310314
rs1026601887
 19 E>K No ClinGen
Ensembl
rs745952905
CA8630934
 28 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA400065725
rs1391871688
 29 R>H No ClinGen
gnomAD
rs902055553
CA291310306
 30 R>Q No ClinGen
gnomAD
CA400065665
rs1474976282
 37 E>D No ClinGen
TOPMed
TCGA novel 42 W>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 44 G>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA400065330
rs1598304131
 57 N>H No ClinGen
Ensembl
TCGA novel 60 C>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA400065182
rs1253995769
 65 A>G No ClinGen
gnomAD
TCGA novel 65 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 66 E>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA291309879
rs112724635
 68 L>P No ClinGen
Ensembl
CA8630907
rs779462460
 70 S>L No ClinGen
ExAC
gnomAD
rs1463708838
CA400065035
 73 T>A No ClinGen
gnomAD
CA400064920
rs1482698962
 77 T>R No ClinGen
TOPMed
gnomAD
rs755420416
CA8630906
 78 D>G No ClinGen
ExAC
gnomAD
CA8630904
rs780561799
 79 K>I No ClinGen
ExAC
gnomAD
CA8630902
rs751114803
 82 G>R No ClinGen
ExAC
gnomAD
TCGA novel 83 G>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs763754395
CA8630901
 85 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA400064652
rs1390319526
 85 R>H No ClinGen
gnomAD
CA8630900
rs140922985
 86 K>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs140922985
CA291309831
 86 K>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8630899
rs752455527
 90 D>N No ClinGen
ExAC
gnomAD
rs1567763892
CA400064424
 94 K>T No ClinGen
Ensembl
CA8630898
rs765062326
 95 G>R No ClinGen
ExAC
gnomAD
CA400064384
rs1288110001
 97 E>V No ClinGen
TOPMed
rs1361500904
CA400064359
 98 S>N No ClinGen
TOPMed
rs776637506
CA8630897
 98 S>R No ClinGen
ExAC
gnomAD
rs1188311363
CA400064295
 100 P>L No ClinGen
gnomAD
COSM1236233
CA400064200
rs1441966641
 103 K>N autonomic_ganglia [Cosmic] No ClinGen
cosmic curated
gnomAD
CA400064202
rs1216626997
 103 K>R No ClinGen
gnomAD
CA400063347
rs1382220039
 115 R>Q Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1414793625
CA400063313
 116 G>A No ClinGen
gnomAD
rs1356693722
CA400063204
 119 P>L No ClinGen
TOPMed
gnomAD
rs1408505956
CA400063161
 120 E>D No ClinGen
TOPMed
gnomAD
rs1405002624
CA400062588
 136 M>I No ClinGen
gnomAD
rs1298438311
CA400062605
 136 M>L No ClinGen
TOPMed
gnomAD
CA8630851
rs756109344
 139 K>R No ClinGen
ExAC
TOPMed
gnomAD
CA400060428
rs1598301770
 140 N>T No ClinGen
Ensembl
rs1598301756
CA400060309
 145 D>A No ClinGen
Ensembl
CA400060267
rs1598301744
 147 V>A No ClinGen
Ensembl
CA400060275
rs1400058693
 147 V>F No ClinGen
TOPMed
rs1598301734
CA400060137
 153 N>S No ClinGen
Ensembl
CA400060110
rs1337074942
 154 V>F No ClinGen
TOPMed
TCGA novel 154 V>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA8630848
rs761996259
 164 Y>C No ClinGen
ExAC
gnomAD
CA8630845
rs373324667
 175 S>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8630843
rs765576475
 177 D>E No ClinGen
ExAC
gnomAD
TCGA novel 178 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs202060104
CA291306614
 181 K>E No ClinGen
1000Genomes
rs111515382
CA291306609
 181 K>T No ClinGen
Ensembl
TCGA novel 182 D>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs202111986
CA291306604
 183 D>G No ClinGen
1000Genomes

No associated diseases with P83916

8 regional properties for P83916

Type Name Position InterPro Accession
domain Chromo/chromo shadow domain 20 - 79 IPR000953-1
domain Chromo/chromo shadow domain 116 - 175 IPR000953-2
domain Chromo shadow domain 111 - 173 IPR008251
domain Chromo domain subgroup 18 - 26 IPR017984-1
domain Chromo domain subgroup 31 - 45 IPR017984-2
domain Chromo domain subgroup 46 - 58 IPR017984-3
conserved_site Chromo domain, conserved site 38 - 58 IPR023779
domain Chromo domain 21 - 69 IPR023780

Functions

Description
EC Number
Subcellular Localization
  • Nucleus
  • Unassociated with chromosomes during mitosis
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

12 GO annotations of cellular component

Name Definition
chromatin The ordered and organized complex of DNA, protein, and sometimes RNA, that forms the chromosome.
chromocenter A region in which centric, heterochromatic portions from more than one chromosomes form a compact structure.
chromosome, centromeric region The region of a chromosome that includes the centromeric DNA and associated proteins. In monocentric chromosomes, this region corresponds to a single area of the chromosome, whereas in holocentric chromosomes, it is evenly distributed along the chromosome.
chromosome, telomeric region The end of a linear chromosome, required for the integrity and maintenance of the end. A chromosome telomere usually includes a region of telomerase-encoded repeats the length of which rarely exceeds 20 bp each and that permits the formation of a telomeric loop (T-loop). The telomeric repeat region is usually preceded by a sub-telomeric region that is gene-poor but rich in repetitive elements. Some telomeres only consist of the latter part (for eg. D. melanogaster telomeres).
female pronucleus The pronucleus originating from the ovum that is being fertilized.
heterochromatin A compact and highly condensed form of chromatin that is refractory to transcription.
male pronucleus The pronucleus originating from the spermatozoa that was involved in fertilization.
nucleoplasm That part of the nuclear content other than the chromosomes or the nucleolus.
nucleus A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.
pericentric heterochromatin Heterochromatin that is located adjacent to the CENP-A rich centromere 'central core' and characterized by methylated H3 histone at lysine 9 (H3K9me2/H3K9me3).
site of DNA damage A region of a chromosome at which DNA damage has occurred. DNA damage signaling and repair proteins accumulate at the lesion to respond to the damage and repair the DNA to form a continuous DNA helix.
spindle The array of microtubules and associated molecules that forms between opposite poles of a eukaryotic cell during mitosis or meiosis and serves to move the duplicated chromosomes apart.

7 GO annotations of molecular function

Name Definition
chromatin binding Binding to chromatin, the network of fibers of DNA, protein, and sometimes RNA, that make up the chromosomes of the eukaryotic nucleus during interphase.
DNA binding Any molecular function by which a gene product interacts selectively and non-covalently with DNA (deoxyribonucleic acid).
enzyme binding Binding to an enzyme, a protein with catalytic activity.
histone methyltransferase binding Binding to a histone methyltransferase enzyme.
identical protein binding Binding to an identical protein or proteins.
methylated histone binding Binding to a histone in which a residue has been modified by methylation.
molecular adaptor activity The binding activity of a molecule that brings together two or more molecules through a selective, non-covalent, often stoichiometric interaction, permitting those molecules to function in a coordinated way.

3 GO annotations of biological process

Name Definition
cellular response to DNA damage stimulus Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating damage to its DNA from environmental insults or errors during metabolism.
chromatin organization The assembly or remodeling of chromatin composed of DNA complexed with histones, other associated proteins, and sometimes RNA.
negative regulation of transcription by RNA polymerase II Any process that stops, prevents, or reduces the frequency, rate or extent of transcription mediated by RNA polymerase II.

7 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q99549 MPHOSPH8 M-phase phosphoprotein 8 Homo sapiens (Human) PR
Q9Y232 CDYL Chromodomain Y-like protein Homo sapiens (Human) PR
Q8N8U2 CDYL2 Chromodomain Y-like protein 2 Homo sapiens (Human) PR
Q9WTK2 Cdyl Chromodomain Y-like protein Mus musculus (Mouse) PR
Q9D5D8 Cdyl2 Chromodomain Y-like protein 2 Mus musculus (Mouse) PR
P83917 Cbx1 Chromobox protein homolog 1 Mus musculus (Mouse) PR
Q6AYK9 Cdyl Chromodomain Y-like protein Rattus norvegicus (Rat) PR
10 20 30 40 50 60
MGKKQNKKKV EEVLEEEEEE YVVEKVLDRR VVKGKVEYLL KWKGFSDEDN TWEPEENLDC
70 80 90 100 110 120
PDLIAEFLQS QKTAHETDKS EGGKRKADSD SEDKGEESKP KKKKEESEKP RGFARGLEPE
130 140 150 160 170 180
RIIGATDSSG ELMFLMKWKN SDEADLVPAK EANVKCPQVV ISFYEERLTW HSYPSEDDDK
KDDKN