CTNNBIP1 (catenin beta interacting protein 1) - Rat Genome Database

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Gene: CTNNBIP1 (catenin beta interacting protein 1) Homo sapiens
Analyze
Symbol: CTNNBIP1
Name: catenin beta interacting protein 1
RGD ID: 1350422
HGNC Page HGNC:16913
Description: Enables armadillo repeat domain binding activity and beta-catenin binding activity. Involved in several processes, including negative regulation of DNA-binding transcription factor activity; positive regulation of cell differentiation; and regulation of vascular permeability involved in acute inflammatory response. Located in cytosol and nucleus. Part of beta-catenin destruction complex.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: beta-catenin-interacting protein 1; beta-catenin-interacting protein ICAT; catenin, beta interacting protein 1; catenin, beta-interacting protein 1; ICAT; inhibitor of beta-catenin and Tcf-4; MGC15093
RGD Orthologs
Mouse
Rat
Bonobo
Pig
Green Monkey
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3819,848,276 - 9,910,269 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl19,848,276 - 9,910,336 (-)EnsemblGRCh38hg38GRCh38
GRCh3719,908,334 - 9,970,327 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3619,830,921 - 9,892,903 (-)NCBINCBI36hg18NCBI36
Build 3419,842,599 - 9,904,582NCBI
Celera19,019,961 - 9,067,271 (-)NCBI
Cytogenetic Map1p36.22NCBI
HuRef19,064,315 - 9,126,095 (-)NCBIHuRef
CHM1_119,896,913 - 9,959,080 (-)NCBICHM1_1
T2T-CHM13v2.019,391,187 - 9,453,193 (-)NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:10898789   PMID:12068170   PMID:12124804   PMID:12182422   PMID:12408824   PMID:12408825   PMID:12417602   PMID:12477932   PMID:14613891   PMID:15063782   PMID:15489334   PMID:15893313  
PMID:16188939   PMID:16189514   PMID:16293619   PMID:16325583   PMID:16575872   PMID:16858403   PMID:17072306   PMID:17255093   PMID:17353931   PMID:17418091   PMID:17510365   PMID:17638851  
PMID:18070361   PMID:18183411   PMID:18287330   PMID:18433021   PMID:18500270   PMID:18705344   PMID:18715618   PMID:18806748   PMID:18844223   PMID:18852287   PMID:18854359   PMID:18977368  
PMID:18992165   PMID:19038973   PMID:19089909   PMID:19322201   PMID:19433865   PMID:19550115   PMID:19569129   PMID:19898961   PMID:20034989   PMID:20182836   PMID:20211142   PMID:20219600  
PMID:20300972   PMID:20809334   PMID:20811694   PMID:20830236   PMID:20878057   PMID:20970365   PMID:21049553   PMID:21336584   PMID:21478268   PMID:21532622   PMID:21574102   PMID:21636708  
PMID:21791486   PMID:21873635   PMID:21885566   PMID:22075503   PMID:22081448   PMID:22525043   PMID:22749188   PMID:22815884   PMID:23027379   PMID:23110823   PMID:23339455   PMID:23572266  
PMID:23612487   PMID:23648139   PMID:23752183   PMID:23928935   PMID:23971040   PMID:23973669   PMID:24390805   PMID:24514042   PMID:25175916   PMID:25193262   PMID:25344754   PMID:25404731  
PMID:25416956   PMID:25434796   PMID:25445594   PMID:25681036   PMID:25845340   PMID:25849888   PMID:26047787   PMID:26096243   PMID:26124325   PMID:26124339   PMID:26284974   PMID:26299367  
PMID:26317904   PMID:26912724   PMID:27208794   PMID:27679509   PMID:27684187   PMID:27774943   PMID:28514442   PMID:28939743   PMID:29048651   PMID:29540185   PMID:30076728   PMID:30197296  
PMID:30424816   PMID:31766223   PMID:32296183   PMID:32323769   PMID:32531088   PMID:33060769   PMID:33961781   PMID:34078411   PMID:34118593   PMID:34569368  


Genomics

Comparative Map Data
CTNNBIP1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3819,848,276 - 9,910,269 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl19,848,276 - 9,910,336 (-)EnsemblGRCh38hg38GRCh38
GRCh3719,908,334 - 9,970,327 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3619,830,921 - 9,892,903 (-)NCBINCBI36hg18NCBI36
Build 3419,842,599 - 9,904,582NCBI
Celera19,019,961 - 9,067,271 (-)NCBI
Cytogenetic Map1p36.22NCBI
HuRef19,064,315 - 9,126,095 (-)NCBIHuRef
CHM1_119,896,913 - 9,959,080 (-)NCBICHM1_1
T2T-CHM13v2.019,391,187 - 9,453,193 (-)NCBI
Ctnnbip1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm394149,602,698 - 149,650,894 (+)NCBIGRCm39mm39
GRCm39 Ensembl4149,602,693 - 149,650,894 (+)Ensembl
GRCm384149,518,241 - 149,566,437 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl4149,518,236 - 149,566,437 (+)EnsemblGRCm38mm10GRCm38
MGSCv374148,892,350 - 148,940,546 (+)NCBIGRCm37mm9NCBIm37
MGSCv364148,362,043 - 148,410,525 (+)NCBImm8
Celera4151,781,834 - 151,831,616 (+)NCBICelera
Cytogenetic Map4E2NCBI
Ctnnbip1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.25159,961,961 - 160,010,942 (+)NCBImRatBN7.2
mRatBN7.2 Ensembl5159,961,928 - 160,010,939 (+)Ensembl
Rnor_6.05166,464,170 - 166,513,030 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl5166,464,252 - 166,513,027 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.05170,110,484 - 170,159,320 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.45166,601,155 - 166,650,163 (+)NCBIRGSC3.4rn4RGSC3.4
Celera5158,231,700 - 158,280,408 (+)NCBICelera
Cytogenetic Map5q36NCBI
CTNNBIP1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.119,846,511 - 9,882,049 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl19,846,511 - 9,882,049 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v018,615,241 - 8,677,324 (-)NCBIMhudiblu_PPA_v0panPan3
CTNNBIP1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl670,184,936 - 70,241,477 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1670,184,935 - 70,241,560 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
CTNNBIP1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.120121,861,266 - 121,921,541 (+)NCBIChlSab1.1chlSab2
ChlSab1.1 Ensembl20121,892,415 - 121,921,621 (+)EnsemblChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366605425,787,892 - 25,851,657 (+)NCBIVero_WHO_p1.0

Position Markers
SHGC-74192  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3719,910,210 - 9,910,345UniSTSGRCh37
Build 3619,832,797 - 9,832,932RGDNCBI36
Celera19,021,837 - 9,021,972RGD
Cytogenetic Map1p36.22UniSTS
HuRef19,066,191 - 9,066,326UniSTS
TNG Radiation Hybrid Map14759.0UniSTS
GeneMap99-GB4 RH Map141.96UniSTS
Whitehead-RH Map154.3UniSTS
AL033871  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3719,953,771 - 9,953,960UniSTSGRCh37
Build 3619,876,358 - 9,876,547RGDNCBI36
Celera19,065,395 - 9,065,584RGD
Cytogenetic Map1p36.22UniSTS
HuRef19,109,641 - 9,109,830UniSTS
HSC13F032  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3719,908,352 - 9,908,627UniSTSGRCh37
Build 3619,830,939 - 9,831,214RGDNCBI36
Celera19,019,979 - 9,020,254RGD
Cytogenetic Map1p36.22UniSTS
HuRef19,064,333 - 9,064,608UniSTS
CTNNBIP1_7272  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3719,908,147 - 9,909,063UniSTSGRCh37
Build 3619,830,734 - 9,831,650RGDNCBI36
Celera19,019,774 - 9,020,690RGD
HuRef19,064,128 - 9,065,044UniSTS
SHGC-74197  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3719,909,048 - 9,909,202UniSTSGRCh37
Build 3619,831,635 - 9,831,789RGDNCBI36
Celera19,020,675 - 9,020,829RGD
Cytogenetic Map1p36.22UniSTS
HuRef19,065,029 - 9,065,183UniSTS
TNG Radiation Hybrid Map14755.0UniSTS
GeneMap99-GB4 RH Map141.96UniSTS
SHGC-30730  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3719,908,394 - 9,908,519UniSTSGRCh37
Build 3619,830,981 - 9,831,106RGDNCBI36
Celera19,020,021 - 9,020,146RGD
Cytogenetic Map1p36.22UniSTS
HuRef19,064,375 - 9,064,500UniSTS
GeneMap99-G3 RH Map1463.0UniSTS
SHGC-74198  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3719,908,389 - 9,908,530UniSTSGRCh37
Build 3619,830,976 - 9,831,117RGDNCBI36
Celera19,020,016 - 9,020,157RGD
Cytogenetic Map1p36.22UniSTS
HuRef19,064,370 - 9,064,511UniSTS
TNG Radiation Hybrid Map14755.0UniSTS
GeneMap99-GB4 RH Map141.96UniSTS

miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR200Ahsa-miR-200a-3pMirecordsexternal_info{changed}NA19703993
MIR215hsa-miR-215-5pMirtarbaseexternal_infoLuciferase reporter assayFunctional MTI23554908
MIR215hsa-miR-215-5pMirtarbaseexternal_infoMicroarrayFunctional MTI (Weak)19074876

Predicted Target Of
Summary Value
Count of predictions:3255
Count of miRNA genes:931
Interacting mature miRNAs:1132
Transcripts:ENST00000377256, ENST00000377258, ENST00000377263, ENST00000400904, ENST00000537447
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 2113 1991 1233 289 875 131 3601 1317 3443 319 1417 1583 171 1170 2043 4
Low 320 992 490 333 1069 333 754 876 274 99 32 25 2 34 745 1
Below cutoff 2 3 1 1 4 1 2 14 1 7 3 2 1 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_029165 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001012329 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_020248 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017001853 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017001854 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017001855 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047425762 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047425763 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047425765 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047425766 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047425770 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB021262 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL357140 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC014300 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC035794 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC146892 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC146896 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI226022 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB995652 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471130 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000377256   ⟹   ENSP00000366466
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl19,850,659 - 9,878,176 (-)Ensembl
RefSeq Acc Id: ENST00000377258   ⟹   ENSP00000366468
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl19,850,450 - 9,893,237 (-)Ensembl
RefSeq Acc Id: ENST00000377263   ⟹   ENSP00000366474
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl19,848,276 - 9,910,269 (-)Ensembl
RefSeq Acc Id: ENST00000400904   ⟹   ENSP00000383696
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl19,850,109 - 9,910,336 (-)Ensembl
RefSeq Acc Id: NM_001012329   ⟹   NP_001012329
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3819,848,276 - 9,910,269 (-)NCBI
GRCh3719,908,334 - 9,970,316 (-)ENTREZGENE
Build 3619,830,921 - 9,892,903 (-)NCBI Archive
HuRef19,064,315 - 9,126,095 (-)ENTREZGENE
CHM1_119,896,913 - 9,959,080 (-)NCBI
T2T-CHM13v2.019,391,187 - 9,453,193 (-)NCBI
Sequence:
RefSeq Acc Id: NM_020248   ⟹   NP_064633
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3819,848,276 - 9,910,269 (-)NCBI
GRCh3719,908,334 - 9,970,316 (-)ENTREZGENE
Build 3619,830,921 - 9,892,903 (-)NCBI Archive
HuRef19,064,315 - 9,126,095 (-)ENTREZGENE
CHM1_119,896,913 - 9,959,080 (-)NCBI
T2T-CHM13v2.019,391,187 - 9,453,193 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047425762   ⟹   XP_047281718
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3819,848,276 - 9,910,269 (-)NCBI
RefSeq Acc Id: XM_047425763   ⟹   XP_047281719
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3819,848,276 - 9,910,269 (-)NCBI
RefSeq Acc Id: XM_047425765   ⟹   XP_047281721
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3819,848,276 - 9,910,269 (-)NCBI
RefSeq Acc Id: XM_047425766   ⟹   XP_047281722
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3819,848,276 - 9,877,947 (-)NCBI
RefSeq Acc Id: XM_047425770   ⟹   XP_047281726
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3819,848,276 - 9,877,947 (-)NCBI
Reference Sequences
RefSeq Acc Id: NP_064633   ⟸   NM_020248
- UniProtKB: Q9NSA3 (UniProtKB/Swiss-Prot),   A0A024R4D7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001012329   ⟸   NM_001012329
- UniProtKB: Q9NSA3 (UniProtKB/Swiss-Prot),   A0A024R4D7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000383696   ⟸   ENST00000400904
RefSeq Acc Id: ENSP00000366466   ⟸   ENST00000377256
RefSeq Acc Id: ENSP00000366468   ⟸   ENST00000377258
RefSeq Acc Id: ENSP00000366474   ⟸   ENST00000377263
RefSeq Acc Id: XP_047281718   ⟸   XM_047425762
- Peptide Label: isoform X1
RefSeq Acc Id: XP_047281721   ⟸   XM_047425765
- Peptide Label: isoform X1
RefSeq Acc Id: XP_047281719   ⟸   XM_047425763
- Peptide Label: isoform X1
RefSeq Acc Id: XP_047281726   ⟸   XM_047425770
- Peptide Label: isoform X3
RefSeq Acc Id: XP_047281722   ⟸   XM_047425766
- Peptide Label: isoform X2
Protein Domains
ICAT

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9NSA3-F1-model_v2 AlphaFold Q9NSA3 1-81 view protein structure

Promoters
RGD ID:6785361
Promoter ID:HG_KWN:580
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:NB4
Transcripts:ENST00000377258
Position:
Human AssemblyChrPosition (strand)Source
Build 3619,875,596 - 9,876,096 (-)MPROMDB
RGD ID:6785363
Promoter ID:HG_KWN:582
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000377263,   OTTHUMT00000005013
Position:
Human AssemblyChrPosition (strand)Source
Build 3619,892,766 - 9,893,477 (-)MPROMDB
RGD ID:6854018
Promoter ID:EPDNEW_H174
Type:initiation region
Name:CTNNBIP1_1
Description:catenin beta interacting protein 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3819,910,255 - 9,910,315EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 1p36.31-36.21(chr1:6652339-12724844)x3 copy number gain See cases [RCV000051794] Chr1:6652339..12724844 [GRCh38]
Chr1:6712399..12784811 [GRCh37]
Chr1:6634986..12707398 [NCBI36]
Chr1:1p36.31-36.21
pathogenic
GRCh38/hg38 1p36.31-36.13(chr1:6853513-17326813)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051795]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051795]|See cases [RCV000051795] Chr1:6853513..17326813 [GRCh38]
Chr1:6913573..17685411 [GRCh37]
Chr1:6836160..17557998 [NCBI36]
Chr1:1p36.31-36.13
pathogenic
GRCh38/hg38 1p36.33-36.22(chr1:844347-10809098)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052038]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052038]|See cases [RCV000052038] Chr1:844347..10809098 [GRCh38]
Chr1:779727..10869155 [GRCh37]
Chr1:769590..10791742 [NCBI36]
Chr1:1p36.33-36.22
pathogenic
GRCh38/hg38 1p36.31-36.22(chr1:5682528-10863843)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053730]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053730]|See cases [RCV000053730] Chr1:5682528..10863843 [GRCh38]
Chr1:5742588..10923900 [GRCh37]
Chr1:5665175..10846487 [NCBI36]
Chr1:1p36.31-36.22
pathogenic
GRCh38/hg38 1p36.32-36.21(chr1:2963330-12666744)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053713]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053713]|See cases [RCV000053713] Chr1:2963330..12666744 [GRCh38]
Chr1:2879895..12726755 [GRCh37]
Chr1:2869755..12649342 [NCBI36]
Chr1:1p36.32-36.21
pathogenic
GRCh38/hg38 1p36.32-36.13(chr1:3006193-17688934)x1 copy number loss See cases [RCV000053714] Chr1:3006193..17688934 [GRCh38]
Chr1:2922757..18015429 [GRCh37]
Chr1:2912617..17888016 [NCBI36]
Chr1:1p36.32-36.13
pathogenic
GRCh38/hg38 1p36.32-36.22(chr1:3319336-11243395)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053716]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053716]|See cases [RCV000053716] Chr1:3319336..11243395 [GRCh38]
Chr1:3235900..11303452 [GRCh37]
Chr1:3225760..11226039 [NCBI36]
Chr1:1p36.32-36.22
pathogenic
GRCh38/hg38 1p36.32-36.21(chr1:4898439-13111056)x1 copy number loss See cases [RCV000053724] Chr1:4898439..13111056 [GRCh38]
Chr1:4958499..13178528 [GRCh37]
Chr1:4858359..13101115 [NCBI36]
Chr1:1p36.32-36.21
pathogenic
GRCh38/hg38 1p36.23-36.21(chr1:7165036-13111056)x1 copy number loss See cases [RCV000053755] Chr1:7165036..13111056 [GRCh38]
Chr1:7225096..13178528 [GRCh37]
Chr1:7147683..13101115 [NCBI36]
Chr1:1p36.23-36.21
pathogenic
GRCh38/hg38 1p36.23-36.13(chr1:9034671-16441465)x1 copy number loss See cases [RCV000053756] Chr1:9034671..16441465 [GRCh38]
Chr1:9094730..16767960 [GRCh37]
Chr1:9017317..16640547 [NCBI36]
Chr1:1p36.23-36.13
pathogenic
GRCh38/hg38 1p36.22-36.21(chr1:9406722-12852772)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053757]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053757]|See cases [RCV000053757] Chr1:9406722..12852772 [GRCh38]
Chr1:9466781..12912625 [GRCh37]
Chr1:9389368..12835212 [NCBI36]
Chr1:1p36.22-36.21
pathogenic
GRCh38/hg38 1p36.23-36.21(chr1:9064492-12666744)x1 copy number loss See cases [RCV000133779] Chr1:9064492..12666744 [GRCh38]
Chr1:9124551..12726755 [GRCh37]
Chr1:9047138..12649342 [NCBI36]
Chr1:1p36.23-36.21
pathogenic
GRCh38/hg38 1p36.23-36.22(chr1:8283694-12470133)x1 copy number loss See cases [RCV000135807] Chr1:8283694..12470133 [GRCh38]
Chr1:8343754..12530188 [GRCh37]
Chr1:8266341..12452775 [NCBI36]
Chr1:1p36.23-36.22
pathogenic
GRCh38/hg38 1p36.23-36.22(chr1:8804244-10102950)x3 copy number gain See cases [RCV000137134] Chr1:8804244..10102950 [GRCh38]
Chr1:8864303..10163008 [GRCh37]
Chr1:8786890..10085595 [NCBI36]
Chr1:1p36.23-36.22
uncertain significance
GRCh38/hg38 1p36.33-36.22(chr1:844347-12470133)x1 copy number loss See cases [RCV000136695] Chr1:844347..12470133 [GRCh38]
Chr1:779727..12530188 [GRCh37]
Chr1:769590..12452775 [NCBI36]
Chr1:1p36.33-36.22
pathogenic|likely pathogenic
GRCh38/hg38 1p36.32-36.21(chr1:4898439-12911913)x1 copy number loss See cases [RCV000137461] Chr1:4898439..12911913 [GRCh38]
Chr1:4958499..12971757 [GRCh37]
Chr1:4858359..12894344 [NCBI36]
Chr1:1p36.32-36.21
pathogenic
GRCh38/hg38 1p36.31-36.21(chr1:6303641-15799093)x1 copy number loss See cases [RCV000137948] Chr1:6303641..15799093 [GRCh38]
Chr1:6363701..16125588 [GRCh37]
Chr1:6286288..15998175 [NCBI36]
Chr1:1p36.31-36.21
pathogenic|likely benign
GRCh38/hg38 1p36.22-36.21(chr1:9428538-15815791)x1 copy number loss See cases [RCV000140873] Chr1:9428538..15815791 [GRCh38]
Chr1:9488597..16142286 [GRCh37]
Chr1:9411184..16014873 [NCBI36]
Chr1:1p36.22-36.21
pathogenic
GRCh38/hg38 1p36.22(chr1:9378480-10317912)x3 copy number gain See cases [RCV000141821] Chr1:9378480..10317912 [GRCh38]
Chr1:9438539..10377970 [GRCh37]
Chr1:9361126..10300557 [NCBI36]
Chr1:1p36.22
uncertain significance
GRCh38/hg38 1p36.31-36.13(chr1:6554885-16056011)x3 copy number gain See cases [RCV000142906] Chr1:6554885..16056011 [GRCh38]
Chr1:6614945..16382506 [GRCh37]
Chr1:6537532..16255093 [NCBI36]
Chr1:1p36.31-36.13
pathogenic
GRCh38/hg38 1p36.31-36.13(chr1:5363826-18360302)x1 copy number loss See cases [RCV000142771] Chr1:5363826..18360302 [GRCh38]
Chr1:5423886..18686796 [GRCh37]
Chr1:5323746..18559383 [NCBI36]
Chr1:1p36.31-36.13
pathogenic
Single allele complex Ductal breast carcinoma [RCV000207058] Chr1:909238..24706269 [GRCh37]
Chr1:1p36.33-36.11
uncertain significance
chr1:909238-16736132 complex variant complex Ductal breast carcinoma [RCV000207094] Chr1:909238..16736132 [GRCh37]
Chr1:1p36.33-36.13
uncertain significance
GRCh37/hg19 1p36.33-36.22(chr1:82154-12699337)x1 copy number loss See cases [RCV000239416] Chr1:82154..12699337 [GRCh37]
Chr1:1p36.33-36.22
pathogenic
GRCh37/hg19 1p36.33-36.21(chr1:746608-15077159)x1 copy number loss See cases [RCV000240403] Chr1:746608..15077159 [GRCh37]
Chr1:1p36.33-36.21
pathogenic
GRCh37/hg19 1p36.23-36.21(chr1:8255222-12785220)x3 copy number gain See cases [RCV000240284] Chr1:8255222..12785220 [GRCh37]
Chr1:1p36.23-36.21
likely pathogenic
GRCh37/hg19 1p36.32-36.22(chr1:2817420-10670878)x1 copy number loss See cases [RCV000449468] Chr1:2817420..10670878 [GRCh37]
Chr1:1p36.32-36.22
pathogenic
GRCh37/hg19 1p36.32-36.21(chr1:4558588-13187457)x1 copy number loss See cases [RCV000446359] Chr1:4558588..13187457 [GRCh37]
Chr1:1p36.32-36.21
pathogenic
GRCh37/hg19 1p36.32-36.12(chr1:2749920-22564787)x1 copy number loss See cases [RCV000446470] Chr1:2749920..22564787 [GRCh37]
Chr1:1p36.32-36.12
pathogenic
GRCh37/hg19 1p36.23-36.22(chr1:7301946-11143298)x3 copy number gain See cases [RCV000448222] Chr1:7301946..11143298 [GRCh37]
Chr1:1p36.23-36.22
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.23-36.13(chr1:8850514-16272383)x1 copy number loss See cases [RCV000512226] Chr1:8850514..16272383 [GRCh37]
Chr1:1p36.23-36.13
likely pathogenic
GRCh37/hg19 1p36.22(chr1:9723166-10340866)x3 copy number gain not provided [RCV000684548] Chr1:9723166..10340866 [GRCh37]
Chr1:1p36.22
uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.33-36.22(chr1:82154-11784118)x1 copy number loss See cases [RCV000790592] Chr1:82154..11784118 [GRCh37]
Chr1:1p36.33-36.22
pathogenic
GRCh37/hg19 1p36.22(chr1:9852396-11909475)x1 copy number loss not provided [RCV001005065] Chr1:9852396..11909475 [GRCh37]
Chr1:1p36.22
likely pathogenic
NC_000001.10:g.(?_9770494)_(10690064_?)del deletion Immunodeficiency 14 [RCV001031897] Chr1:9770494..10690064 [GRCh37]
Chr1:1p36.22
uncertain significance
GRCh37/hg19 1p36.22(chr1:9616141-9971665) copy number loss not specified [RCV002053613] Chr1:9616141..9971665 [GRCh37]
Chr1:1p36.22
uncertain significance
GRCh37/hg19 1p36.33-36.13(chr1:849466-17525065)x1 copy number loss not provided [RCV001832902] Chr1:849466..17525065 [GRCh37]
Chr1:1p36.33-36.13
pathogenic
NC_000001.10:g.(?_8616514)_(12476900_?)dup duplication Immunodeficiency 14 [RCV001920571] Chr1:8616514..12476900 [GRCh37]
Chr1:1p36.23-36.22
uncertain significance
NC_000001.10:g.(?_6485016)_(12569078_?)del deletion not provided [RCV001940096] Chr1:6485016..12569078 [GRCh37]
Chr1:1p36.31-36.22
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:16913 AgrOrtholog
COSMIC CTNNBIP1 COSMIC
Ensembl Genes ENSG00000178585 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000366466.1 UniProtKB/Swiss-Prot
  ENSP00000366468.1 UniProtKB/Swiss-Prot
  ENSP00000366474 ENTREZGENE
  ENSP00000366474.1 UniProtKB/Swiss-Prot
  ENSP00000383696 ENTREZGENE
  ENSP00000383696.3 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000377256.1 UniProtKB/Swiss-Prot
  ENST00000377258.5 UniProtKB/Swiss-Prot
  ENST00000377263 ENTREZGENE
  ENST00000377263.6 UniProtKB/Swiss-Prot
  ENST00000400904 ENTREZGENE
  ENST00000400904.7 UniProtKB/Swiss-Prot
Gene3D-CATH 1.10.10.490 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000178585 GTEx
HGNC ID HGNC:16913 ENTREZGENE
Human Proteome Map CTNNBIP1 Human Proteome Map
InterPro CTNNBIP1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ICAT_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ICAT_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:56998 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 56998 ENTREZGENE
OMIM 607758 OMIM
PANTHER PTHR47142 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam ICAT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA27014 PharmGKB
Superfamily-SCOP SSF81730 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A024R4D7 ENTREZGENE, UniProtKB/TrEMBL
  CNBP1_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary Q5T4V2 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-24 CTNNBIP1  catenin beta interacting protein 1    catenin, beta interacting protein 1  Symbol and/or name change 5135510 APPROVED
2011-08-16 CTNNBIP1  catenin, beta interacting protein 1  CTNNBIP1  catenin, beta interacting protein 1  Symbol and/or name change 5135510 APPROVED