CCPG1

gene
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Also known as KIAA1254CPR8

Summary

CCPG1 (cell cycle progression 1, HGNC:24227) is a protein-coding gene on chromosome 15q21.3, encoding Cell cycle progression protein 1 (Q9ULG6). Acts as an assembly platform for Rho protein signaling complexes.

Involved in positive regulation of cell cycle and positive regulation of cell population proliferation. Predicted to be active in membrane.

Source: NCBI Gene 9236 — RefSeq curated summary.

At a glance

  • GWAS associations: 1
  • Clinical variants (ClinVar): 133 total — 3 pathogenic, 1 likely-pathogenic
  • MANE Select transcript: NM_001204450

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:24227
Approved symbolCCPG1
Namecell cycle progression 1
Location15q21.3
Locus typegene with protein product
StatusApproved
AliasesKIAA1254, CPR8
Ensembl geneENSG00000260916
Ensembl biotypeprotein_coding
OMIM611326
Entrez9236

Gene structure

Transcript identifiers

Ensembl transcripts: 19 — 16 protein_coding, 1 protein_coding_CDS_not_defined, 1 retained_intron, 1 nonsense_mediated_decay

ENST00000310958, ENST00000425574, ENST00000442196, ENST00000563171, ENST00000563294, ENST00000564092, ENST00000564663, ENST00000568372, ENST00000568543, ENST00000568592, ENST00000568808, ENST00000569205, ENST00000570272, ENST00000858134, ENST00000946864, ENST00000946865, ENST00000946866, ENST00000946867, ENST00000946868

RefSeq mRNA: 4 — MANE Select: NM_001204450 NM_001204450, NM_001204451, NM_004748, NM_020739

CCDS: CCDS42039, CCDS55966, CCDS55967

Canonical transcript exons

ENST00000442196 — 9 exons

ExonStartEnd
ENSE000022196535540822155408359
ENSE000026247315535523955356409
ENSE000034583105537694955377150
ENSE000034864055537179355372044
ENSE000035077465537830055378376
ENSE000035214775538560055385714
ENSE000035511925538936555389433
ENSE000036002295536518855365309
ENSE000036676785535953955360944

Expression profiles

Bgee: expression breadth ubiquitous, 223 present calls, max score 98.37.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 53.2480 / max 1052.4816, expressed in 1818 samples.

FANTOM5 promoters (6 alternative TSS)

Promoter IDTPM avgSamples expressed
15009430.51711792
15009520.47791772
1500921.6592788
1500930.3242155
1500910.190270
2075290.079330

Top tissues by expression

266 total, by Bgee expression score (0-100, higher = more expressed):

TissueAnatomy IDExpression scoreQuality
calcaneal tendonUBERON:000370198.37gold quality
colonic epitheliumUBERON:000039797.69gold quality
body of pancreasUBERON:000115097.35gold quality
gall bladderUBERON:000211097.09gold quality
descending thoracic aortaUBERON:000234596.66gold quality
thoracic aortaUBERON:000151596.20gold quality
ascending aortaUBERON:000149696.15gold quality
monocyteCL:000057696.10gold quality
mononuclear cellCL:000084295.31gold quality
pancreasUBERON:000126495.27gold quality
right coronary arteryUBERON:000162595.27gold quality
aortaUBERON:000094795.26gold quality
stromal cell of endometriumCL:000225595.23gold quality
rectumUBERON:000105295.20gold quality
leukocyteCL:000073895.19gold quality
islet of LangerhansUBERON:000000695.15gold quality
adenohypophysisUBERON:000219695.13gold quality
primordial germ cell in gonadCL:0000670 ∩ UBERON:000099195.05gold quality
popliteal arteryUBERON:000225094.85gold quality
tibial arteryUBERON:000761094.85gold quality
left coronary arteryUBERON:000162694.75gold quality
olfactory segment of nasal mucosaUBERON:000538694.65gold quality
right frontal lobeUBERON:000281094.60gold quality
cerebellar hemisphereUBERON:000224594.44gold quality
right hemisphere of cerebellumUBERON:001489094.36gold quality
mucosa of stomachUBERON:000119994.16gold quality
gastrocnemiusUBERON:000138894.15gold quality
cerebellar cortexUBERON:000212994.12gold quality
sural nerveUBERON:001548894.11gold quality
adrenal tissueUBERON:001830393.99gold quality

Single-cell (SCXA)

Detected in 13 experiment(s), a significant marker in 8.

ExperimentMarker?Max mean expression
E-MTAB-3929yes746.29
E-MTAB-6819yes538.89
E-CURD-88yes87.79
E-HCAD-4yes38.23
E-CURD-46yes31.04
E-MTAB-8410yes29.47
E-ANND-3yes15.02
E-MTAB-9801yes9.01
E-GEOD-110499no2460.32
E-GEOD-124858no1228.16
E-MTAB-6075no1086.80
E-MTAB-7303no216.67
E-MTAB-6142no140.32

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): GLI1

miRNA regulators (miRDB)

151 targeting CCPG1, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNAMax scoreAvg scoremiRNA target_count
HSA-MIR-3163100.0077.238605
HSA-MIR-8485100.0077.574731
HSA-MIR-340-5P100.0072.504437
HSA-MIR-1252-5P100.0069.802774
HSA-MIR-5692A100.0074.406850
HSA-MIR-3613-3P100.0076.367965
HSA-MIR-6833-3P100.0070.633197
HSA-MIR-4768-5P100.0069.492861
HSA-MIR-190A-3P100.0080.355520
HSA-MIR-5692B100.0071.322622
HSA-MIR-5692C100.0071.322622
HSA-MIR-5011-5P100.0083.465820
HSA-MIR-4776-3P100.0068.731340
HSA-MIR-513B-5P99.9969.962150
HSA-MIR-428299.9975.366408
HSA-MIR-548C-3P99.9974.017587
HSA-MIR-366299.9973.825684
HSA-MIR-19A-3P99.9875.332762
HSA-MIR-19B-3P99.9875.442754
HSA-MIR-548P99.9872.253784
HSA-MIR-545-3P99.9570.742783
HSA-MIR-1236-3P99.9468.041695
HSA-MIR-4760-3P99.9370.502385
HSA-MIR-335-3P99.9373.364958
HSA-MIR-205-3P99.9269.923165
HSA-MIR-311999.9271.342390
HSA-MIR-130599.9171.433443
HSA-MIR-6809-3P99.9171.453814
HSA-MIR-10527-5P99.9172.283754
HSA-MIR-1211999.8768.351653

Literature-anchored findings (GeneRIF, showing 2)

  • identification of cell-cycle progression gene 1 (CCPG1), an ER-resident protein, as a non-canonical cargo receptor that directly binds to core autophagy proteins via an LIR motif to mammalian ATG8 proteins and, independently and via a discrete motif, to FIP200. (PMID:29290589)
  • Clinical and prognostic significance of CCPG1 in hepatocellular carcinoma. (PMID:37702448)

Cross-species orthologs

2 orthologs

OrganismSymbolGene ID
mus_musculusCcpg1ENSMUSG00000034563
rattus_norvegicusCcpg1ENSRNOG00000053428

Protein

Protein identifiers

Cell cycle progression protein 1Q9ULG6 (reviewed: Q9ULG6)

Alternative names: Cell cycle progression restoration protein 8

All UniProt accessions (8): H3BN32, H3BNE2, H3BPP4, H3BQN1, H3BR24, H3BTZ1, H3BV63, Q9ULG6

UniProt curated annotations — full annotation on UniProt →

Function. Acts as an assembly platform for Rho protein signaling complexes. Limits guanine nucleotide exchange activity of MCF2L toward RHOA, which results in an inhibition of both its transcriptional activation ability and its transforming activity. Does not inhibit activity of MCF2L toward CDC42, or activity of MCF2 toward either RHOA or CDC42. May be involved in cell cycle regulation.

Subunit / interactions. Interacts with MCF2L. May interact with MCF2, ARHGEF1, BCR, VAV1 and FGD1, but not with TIAM1. Interacts with GTP-bound CDC42 and SRC.

Subcellular location. Cytoplasmic granule membrane.

Similarity. Belongs to the CCPG1 family.

Isoforms (5)

UniProt IDNamesCanonical?
Q9ULG6-11yes
Q9ULG6-22
Q9ULG6-33
Q9ULG6-44
Q9ULG6-55

RefSeq proteins (4): NP_001191379, NP_001191380, NP_004739, NP_065790 (=MANE)

Domains & families (InterPro)

IDNameType
IPR051990CCPG1/PBIP1Family

UniProt features (38 total): sequence variant 12, splice variant 6, compositionally biased region 4, sequence conflict 4, region of interest 3, coiled-coil region 3, topological domain 2, chain 1, modified residue 1, transmembrane region 1, strand 1

Structure

Experimental structures (PDB)

1 structures.

PDBMethodResolution (Å)
7D0EX-RAY DIFFRACTION1.4

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q9ULG6-F162.960.13

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (1): 186

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 230 (showing top): AGGAAGC_MIR5163P, RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_UP, GOZGIT_ESR1_TARGETS_DN, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, RIZKI_TUMOR_INVASIVENESS_3D_DN, GOBP_MACROAUTOPHAGY, SHAFFER_IRF4_TARGETS_IN_PLASMA_CELL_VS_MATURE_B_LYMPHOCYTE, GOBP_REGULATION_OF_CELL_CYCLE, CREIGHTON_ENDOCRINE_THERAPY_RESISTANCE_5, AAAGGGA_MIR204_MIR211, TGTTTAC_MIR30A5P_MIR30C_MIR30D_MIR30B_MIR30E5P, WHN_B, CUI_TCF21_TARGETS_2_DN, VECCHI_GASTRIC_CANCER_EARLY_DN, PODAR_RESPONSE_TO_ADAPHOSTIN_UP

GO Biological Process (4): positive regulation of cell population proliferation (GO:0008284), positive regulation of cell cycle (GO:0045787), positive regulation of transcription by RNA polymerase II (GO:0045944), reticulophagy (GO:0061709)

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (1): membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
positive regulation of cellular process2
cell population proliferation1
regulation of cell population proliferation1
cell cycle1
regulation of cell cycle1
regulation of transcription by RNA polymerase II1
transcription by RNA polymerase II1
positive regulation of DNA-templated transcription1
macroautophagy1
binding1
cellular anatomical structure1

Protein interactions and networks

STRING

1382 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
CCPG1RB1CC1Q8TDY2989
CCPG1GABARAPO95166881
CCPG1RETREG1Q9H6L5818
CCPG1ATL3Q6DD88817
CCPG1SEC62Q99442816
CCPG1TEX264Q9Y6I9816
CCPG1RTN3O95197776
CCPG1GABARAPL2P60520734
CCPG1F5GZY7F5GZY7732
CCPG1CD300CQ08708622
CCPG1CALCOCO1Q9P1Z2601
CCPG1OPTNQ96CV9545
CCPG1RETREG3Q86VR2537
CCPG1SQSTM1Q13501520
CCPG1AGBL3Q8NEM8509
CCPG1CALCOCO2Q13137509

IntAct

80 interactions, top by confidence:

ABTypeScore
TNFSF14TMEM11psi-mi:“MI:0914”(association)0.670
TRDNTMEM223psi-mi:“MI:0914”(association)0.640
MANSC1KLRG2psi-mi:“MI:0914”(association)0.530
CHRNA9CHEK1psi-mi:“MI:0914”(association)0.530
GABREFZD6psi-mi:“MI:0914”(association)0.530
ADAM21PLXNA2psi-mi:“MI:0914”(association)0.530
SLC22A15ZFPL1psi-mi:“MI:0914”(association)0.530
GABRDATF6psi-mi:“MI:0914”(association)0.530
PKD2L2PKD2psi-mi:“MI:0914”(association)0.530
TMED3HS1BP3psi-mi:“MI:0914”(association)0.530
CYB5D2ABLIM1psi-mi:“MI:0914”(association)0.530
EGFL8MPOpsi-mi:“MI:0914”(association)0.530
FBXO2TMEM131Lpsi-mi:“MI:0914”(association)0.530
KCNK16B3GAT3psi-mi:“MI:0914”(association)0.530
PIGTZNF609psi-mi:“MI:0914”(association)0.530
TMEM106AB4GALT3psi-mi:“MI:0914”(association)0.530
MAP1LC3BCCPG1psi-mi:“MI:0407”(direct interaction)0.440
MAP1LC3ACCPG1psi-mi:“MI:0407”(direct interaction)0.440
ESYT2psi-mi:“MI:0914”(association)0.350
HAX1psi-mi:“MI:0914”(association)0.350
M2IPO5psi-mi:“MI:0914”(association)0.350
COPS5FBLL1psi-mi:“MI:0914”(association)0.350
Mpsi-mi:“MI:0914”(association)0.350
SURF4psi-mi:“MI:0914”(association)0.350
repMYCBP2psi-mi:“MI:0914”(association)0.350
INSRHAX1psi-mi:“MI:0914”(association)0.350
NTRK3ILVBLpsi-mi:“MI:0914”(association)0.350
ATG101EMC8psi-mi:“MI:0914”(association)0.350

BioGRID (147): CCPG1 (Affinity Capture-MS), CCPG1 (Affinity Capture-MS), CCPG1 (Affinity Capture-MS), CCPG1 (Affinity Capture-MS), CCPG1 (Affinity Capture-MS), CCPG1 (Affinity Capture-MS), CCPG1 (Affinity Capture-MS), CCPG1 (Affinity Capture-MS), CCPG1 (Affinity Capture-MS), CCPG1 (Affinity Capture-MS), CCPG1 (Affinity Capture-MS), CCPG1 (Affinity Capture-MS), CCPG1 (Affinity Capture-MS), CCPG1 (Affinity Capture-MS), CCPG1 (Affinity Capture-MS)

ESM2 similar proteins: A0A2R8Q3S9, A2VCV0, A9ULX8, E1BN97, F1NVK6, F6UF99, P28236, P79169, P79368, Q06220, Q09108, Q0P557, Q0VA42, Q1LZF8, Q28132, Q29030, Q2T9I9, Q3B7T8, Q3V0J1, Q5PQX1, Q5R6R3, Q5T5J6, Q5ZM60, Q640L3, Q640U0, Q66H73, Q6PAV5, Q6PG04, Q7ZX27, Q7ZXV6, Q8K4Q9, Q8N4S0, Q8TDY2, Q90314, Q90WN7, Q91892, Q921T2, Q95M19, Q95MD2, Q95N18

Diamond homologs: A2VD12, A6QLY7, Q3TVI8, Q5R6R3, Q5ZM60, Q96AQ6, Q9ULG6, Q640L3

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 133 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

GO biological processes:

GO termPartnersFoldFDR
ERAD pathway711.1×2e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

133 variants total. Per-class counts are floors (≥ shown; pagination cap):

ClassificationCount (floor)
Pathogenic3
Likely pathogenic1
Uncertain significance110
Likely benign15
Benign2

Top pathogenic / likely-pathogenic (4)

Variant IDHGVSClassification
2425233NC_000015.9:g.(?55497705)(55790527_?)delPathogenic
3243875NC_000015.9:g.(?55646976)(55647630_?)delPathogenic
58571GRCh38/hg38 15q21.3(chr15:55279032-55622007)x3Pathogenic
3243904NC_000015.9:g.(?55611449)(55722997_?)delLikely pathogenic

SpliceAI

2917 predictions. Top by Δscore:

VariantEffectΔscore
15:55340603:C:CAacceptor_gain1.0000
15:55340752:T:TAacceptor_gain1.0000
15:55341737:GCAT:Gacceptor_gain1.0000
15:55341800:GTG:Gdonor_gain1.0000
15:55354794:A:AGacceptor_gain1.0000
15:55354795:T:Gacceptor_gain1.0000
15:55354796:A:AGacceptor_gain1.0000
15:55354797:G:GAacceptor_gain1.0000
15:55354797:GCC:Gacceptor_gain1.0000
15:55354797:GCCA:Gacceptor_gain1.0000
15:55354797:GCCAT:Gacceptor_gain1.0000
15:55354976:GAGGT:Gdonor_loss1.0000
15:55354978:GGT:Gdonor_loss1.0000
15:55354979:GTA:Gdonor_loss1.0000
15:55354980:T:Adonor_loss1.0000
15:55355343:A:AGacceptor_gain1.0000
15:55365183:CATA:Cdonor_loss1.0000
15:55365184:ATACC:Adonor_loss1.0000
15:55365185:TACC:Tdonor_loss1.0000
15:55371787:ACTT:Adonor_loss1.0000
15:55371788:CTTA:Cdonor_loss1.0000
15:55371789:TTA:Tdonor_loss1.0000
15:55371790:TACCA:Tdonor_loss1.0000
15:55371792:C:Adonor_loss1.0000
15:55371882:AACT:Adonor_gain1.0000
15:55371882:AACTC:Adonor_gain1.0000
15:55371883:A:Cdonor_gain1.0000
15:55372040:AAATA:Aacceptor_gain1.0000
15:55372041:AATA:Aacceptor_gain1.0000
15:55372042:ATA:Aacceptor_gain1.0000

AlphaMissense

5428 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
15:55360187:A:TV529D0.999
15:55360199:A:GF525S0.999
15:55360208:A:GL522P0.999
15:55360233:C:GA514P0.999
15:55360264:A:CF503L0.999
15:55360264:A:TF503L0.999
15:55360265:A:CF503C0.999
15:55360266:A:GF503L0.999
15:55371815:G:CS228R0.999
15:55371815:G:TS228R0.999
15:55371817:T:GS228R0.999
15:55360198:G:CF525L0.998
15:55360198:G:TF525L0.998
15:55360200:A:GF525L0.998
15:55360224:C:GA517P0.998
15:55360249:T:AK508N0.998
15:55360249:T:GK508N0.998
15:55360250:T:AK508I0.998
15:55360254:G:CH507D0.998
15:55360265:A:GF503S0.998
15:55371822:G:TA226E0.998
15:55360166:A:GF536S0.997
15:55360175:A:GF533S0.997
15:55360191:A:GS528P0.997
15:55360199:A:CF525C0.997
15:55360229:T:AK515I0.997
15:55360241:A:CI511S0.997
15:55360241:A:GI511T0.997
15:55360282:C:AK497N0.997
15:55360282:C:GK497N0.997

dbSNP variants (sampled 300 via entrez): RS1000026981 (15:55364787 C>T), RS1000204296 (15:55357084 A>G), RS1000220301 (15:55380422 A>G), RS1000232796 (15:55369192 G>A), RS1000233727 (15:55358472 T>A,C), RS1000277444 (15:55406617 T>C,G), RS1000383328 (15:55380472 T>C,G), RS1000393831 (15:55385540 A>C), RS1000478191 (15:55380587 G>A), RS1000568519 (15:55370650 G>A,T), RS1000674171 (15:55392501 A>T), RS1000731524 (15:55386562 C>T), RS1000853031 (15:55358063 T>C), RS1000866996 (15:55370505 C>T), RS1000870888 (15:55408029 G>A)

Disease associations

OMIM: gene MIM:611326 | disease phenotypes: MIM:618580

GenCC curated gene-disease

Mondo (1): developmental and epileptic encephalopathy, 80 (MONDO:0032822)

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

1 associations (top):

StudyTraitp-value
GCST009391_1101Metabolite levels6.000000e-06

EFO canonical traits (1, from GWAS)

EFO IDTrait name
EFO:00104473-hydroxyanthranilic acid measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

69 total (human), top 30 by PubMed support.

ChemicalActions (top 5)PubMed papers
Valproic Acidaffects expression, increases expression6
bisphenol Aaffects expression, increases expression3
sodium arsenitedecreases expression, increases expression3
Air Pollutantsincreases expression, decreases expression, increases abundance3
Cyclosporineincreases expression3
sulforaphaneincreases expression2
Bortezomibincreases expression2
Benzo(a)pyreneincreases expression2
Copperaffects binding, increases expression2
Silicon Dioxidedecreases expression2
Tobacco Smoke Pollutionincreases expression2
Tretinoinincreases expression2
Tunicamycinincreases expression2
aristolochic acid Idecreases expression1
FR900359decreases phosphorylation1
dicrotophosdecreases expression1
methylmercuric chloridedecreases expression1
triphenyl phosphateaffects expression1
kojic aciddecreases expression1
trichostatin Aincreases expression1
beta-lapachoneincreases expression1
arseniteaffects expression1
tris(1,3-dichloro-2-propyl)phosphateincreases expression1
butyraldehydedecreases expression1
perfluorooctanoic acidincreases expression1
potassium chromate(VI)decreases expression1
2,3-bis(3’-hydroxybenzyl)butyrolactoneaffects cotreatment, decreases expression1
bicalutamideincreases expression1
phenethyl isothiocyanateincreases expression1
CGP 52608affects binding, increases reaction1

Cellosaurus cell lines

6 cell lines: 6 embryonic stem cell

First 10 cell lines (id-ordered, not curated):

CellosaurusNameCategorySex
CVCL_D1IEH9 AAVS1-TRE3G-NGN2 RETREG3-/- RETREG2-/- RETREG1-/- TEX264-/- CCPG1-/-Embryonic stem cellFemale
CVCL_D1IJH9 AAVS1-TRE3G-NGN2 CCPG1-/-Embryonic stem cellFemale
CVCL_D1IKH9 AAVS1-TRE3G-NGN2 CCPG1-/- Keima-RAMP4Embryonic stem cellFemale
CVCL_D1ILH9 AAVS1-TRE3G-NGN2 CCPG1-/- Keima-REEP5Embryonic stem cellFemale
CVCL_D1IXH9 AAVS1-TRE3G-NGN2 RETREG3-/- RETREG2-/- RETREG1-/- TEX264-/- CCPG1-/- Keima-RAMP4Embryonic stem cellFemale
CVCL_D1IYH9 AAVS1-TRE3G-NGN2 RETREG3-/- RETREG2-/- RETREG1-/- TEX264-/- CCPG1-/- Keima-REEP5Embryonic stem cellFemale

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.