Gene Gene information from NCBI Gene database.
Entrez ID 1523
Gene name Cut like homeobox 1
Gene symbol CUX1
Synonyms (NCBI Gene)
CASPCDPCDP/CutCDP1COY1CUTL1CUXCloxCux/CDPGDDIGOLIM6NEDDMSNbla10317p100p110p200p75
Chromosome 7
Chromosome location 7q22.1
Summary The protein encoded by this gene is a member of the homeodomain family of DNA binding proteins. It may regulate gene expression, morphogenesis, and differentiation and it may also play a role in the cell cycle progession. Several alternatively spliced tra
SNPs SNP information provided by dbSNP.
5
SNP ID Visualize variation Clinical significance Consequence
rs1554519798 C>- Pathogenic Coding sequence variant, intron variant, frameshift variant
rs1562875556 C>T Pathogenic Coding sequence variant, genic upstream transcript variant, upstream transcript variant, stop gained
rs1563398977 C>T Pathogenic Coding sequence variant, intron variant, stop gained
rs1563446668 ->C Pathogenic Coding sequence variant, frameshift variant, intron variant
rs1563470335 ->GC Pathogenic Coding sequence variant, frameshift variant, intron variant
miRNA miRNA information provided by mirtarbase database.
1325
miRTarBase ID miRNA Experiments Reference
MIRT004087 hsa-miR-155-5p pSILAC 18668040
MIRT004087 hsa-miR-155-5p MicroarrayqRT-PCR 19193853
MIRT048935 hsa-miR-92a-3p qRT-PCR 23622248
MIRT052342 hsa-let-7b-5p CLASH 23622248
MIRT048935 hsa-miR-92a-3p CLASH 23622248
Transcription factors Transcription factors information provided by TRRUST V2 database.
4
Transcription factor Regulation Reference
E2F1 Unknown 18347061
E2F2 Unknown 18347061
E2F3 Unknown 18347061
E2F4 Unknown 18347061
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
26
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IEA
GO:0000122 Process Negative regulation of transcription by RNA polymerase II TAS 1301999
GO:0000139 Component Golgi membrane IEA
GO:0000139 Component Golgi membrane TAS
GO:0000785 Component Chromatin ISA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
116896 2557 ENSG00000257923
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P39880
Protein name Homeobox protein cut-like 1 (CCAAT displacement protein) (CDP) (CDP/Cux p200) (Homeobox protein cux-1) [Cleaved into: CDP/Cux p110]
Protein function Transcription factor involved in the control of neuronal differentiation in the brain. Regulates dendrite development and branching, and dendritic spine formation in cortical layers II-III. Also involved in the control of synaptogenesis. In addi
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02376 CUT 547 624 CUT domain Domain
PF02376 CUT 939 1014 CUT domain Domain
PF02376 CUT 1122 1200 CUT domain Domain
PF00046 Homeodomain 1245 1301 Homeodomain Domain
Sequence
MLCVAGARLKRELDATATVLANRQDESEQSRKRLIEQSREFKKNTPEDLRKQVAPLLKSF
QGEIDALSKRSKEAEAAFLNVYKRLIDVPDPVPALDLGQQLQLKVQRLHDIETENQKLRE
TLEEYNKEFAEVKNQEVTIKALKEKIREYEQTLKNQAETIALEKEQKLQNDFAEKERKLQ
ETQMSTTSKLEEAEHKVQSLQTALEKTRTELFDLKTKYDEETTAKADEIEMIMTDLERAN
QRAEVAQREAETLREQLSSANHSLQLASQIQKAPDVEQAIEVLTRSSLEVELAAKEREIA
QLVEDVQRLQASLTKLRENSASQISQLEQQLSAKNSTLKQLEEKLKGQADYEEVKKELNI
LKSMEFAPSEGAGTQDAAKPLEVLLLEKNRSLQSENAALRISNSDLSGSARRKGKDQPES
RRPGSLPAPPPSQLPRNPGEQASNTNGTHQFSPAGLSQDFFSSSLASPSLPLASTGKFAL
NSLLQRQLMQSFYSKAMQEAGSTSMIFSTGPYSTNSISSQSPLQQSPDVNGMAPSPSQSE
SAGSVSEGEEMDTAEIARQVKEQLIKHNIGQRIFGHYVLGLSQGSVSEILARPKPWNKLT
VRGKEPFHKMKQFLSDEQNILALR
SIQGRQRENPGQSLNRLFQEVPKRRNGSEGNITTRI
RASETGSDEAIKSILEQAKRELQVQKTAEPAQPSSASGSGNSDDAIRSILQQARREMEAQ
QAALDPALKQAPLSQSDITILTPKLLSTSPMPTVSSYPPLAISLKKPSAAPEAGASALPN
PPALKKEAQDAPGLDPQGAADCAQGVLRQVKNEVGRSGAWKDHWWSAVQPERRNAASSEE
AKAEETGGGKEKGSGGSGGGSQPRAERSQLQGPSSSEYWKEWPSAESPYSQSSELSLTGA
SRSETPQNSPLPSSPIVPMSKPTKPSVPPLTPEQYEVYMYQEVDTIELTRQVKEKLAKNG
ICQRIFGEKVLGLSQGSVSDMLSRPKPWSKLTQKGREPFIRMQLWLNGELGQGV
LPVQGQ
QQGPVLHSVTSLQDPLQQGCVSSESTPKTSASCSPAPESPMSSSESVKSLTELVQQPCPP
IEASKDSKPPEPSDPPASDSQPTTPLPLSGHSALSIQELVAMSPELDTYGITKRVKEVLT
DNNLGQRLFGETILGLTQGSVSDLLARPKPWHKLSLKGREPFVRMQLWLNDPNNVEKLMD

MKRMEKKAYMKRRHSSVSDSQPCEPPSVGTEYSQGASPQPQHQLKKPRVVLAPEEKEALK
RAYQQKPYPSPKTIEDLATQLNLKTSTVINWFHNYRSRIRR
ELFIEEIQAGSQGQAGASD
SPSARSGRAAPSSEGDSCDGVEATEGPGSADTEEPKSQGEAEREEVPRPAEQTEPPPSGT
PGPDDARDDDHEGGPVEGPGPLPSPASATATAAPAAPEDAATSAAAAPGEGPAAPSSAPP
PSNSSSSSAPRRPSSLQSLFGLPEAAGARDSRDNPLRKKKAANLNSIIHRLEKAASREEP
IEWEF
Sequence length 1505
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q13948
Protein name Protein CASP
Protein function May be involved in intra-Golgi retrograde transport.
PDB 8WQE , 8WQF , 8WQI
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF08172 CASP_C 422 643 Family
Sequence
MAANVGSMFQYWKRFDLQQLQRELDATATVLANRQDESEQSRKRLIEQSREFKKNTPEDL
RKQVAPLLKSFQGEIDALSKRSKEAEAAFLNVYKRLIDVPDPVPALDLGQQLQLKVQRLH
DIETENQKLRETLEEYNKEFAEVKNQEVTIKALKEKIREYEQTLKNQAETIALEKEQKLQ
NDFAEKERKLQETQMSTTSKLEEAEHKVQSLQTALEKTRTELFDLKTKYDEETTAKADEI
EMIMTDLERANQRAEVAQREAETLREQLSSANHSLQLASQIQKAPDVEQAIEVLTRSSLE
VELAAKEREIAQLVEDVQRLQASLTKLRENSASQISQLEQQLSAKNSTLKQLEEKLKGQA
DYEEVKKELNILKSMEFAPSEGAGTQDAAKPLEVLLLEKNRSLQSENAALRISNSDLSGR
CAELQVRITEAVATATEQRELIARLEQDLSIIQSIQRPDAEGAAEHRLEKIPEPIKEATA
LFYGPAAPASGALPEGQVDSLLSIISSQRERFRARNQELEAENRLAQHTLQALQSELDSL
RADNIKLFEKIKFLQSYPGRGSGSDDTELRYSSQYEERLDPFSSFSKRERQRKYLSLSPW
DKATLSMGRLVLSNKMARTIGFFYTLFLHCLVFLVLYKLAWSE
SMERDCATFCAKKFADH
LHKFHENDNGAAAGDLWQ
Sequence length 678
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Signaling by cytosolic FGFR1 fusion mutants
Signaling by FGFR1 in disease
Intra-Golgi traffic
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
142
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
CUX1-related disorder Likely pathogenic rs2485518349, rs2485473836 RCV003416827
RCV003414376
Global developmental delay with or without impaired intellectual development Likely pathogenic; Pathogenic rs2131983329, rs2131985466, rs2130987702, rs1462658824, rs2132065095, rs372708324, rs2486789520, rs2536316406, rs2486092738, rs2486093998, rs2486191761, rs2536825046, rs2131685158, rs2485005931, rs2485166999
View all (12 more)
RCV002468633
RCV001591702
RCV001780901
RCV002221706
RCV003759085
RCV002275617
RCV002291429
RCV002468668
RCV002468669
RCV002468670
RCV002468672
RCV002468676
RCV002468677
RCV002468678
RCV002468679
RCV002468680
RCV002468682
RCV002470238
RCV003494089
RCV003594710
RCV003887843
RCV004594927
RCV000757896
RCV000757897
RCV000757898
RCV000757899
RCV000757901
Neurodevelopmental disorder Likely pathogenic; Pathogenic rs2131983329, rs1794879475 RCV001374994
RCV001374935
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Duane retraction syndrome Uncertain significance rs1554534086, rs368394580, rs2484681275 RCV003883189
RCV003883218
RCV003883440
Familial cancer of breast Likely benign rs114193404 RCV005937072
Hepatocellular carcinoma Uncertain significance rs782670150 RCV005870060
Intellectual disability Conflicting classifications of pathogenicity rs1791729069 RCV001255332
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 30010043
Adenomatous Polyposis Coli Associate 20945532
Anodontia Associate 29363918
Atherosclerosis Associate 36633253, 37117763
Breast Neoplasms Associate 26325577, 36424660
Carcinogenesis Associate 11371564
Cardiomyopathy Dilated Associate 35979940
Chronic Periodontitis Associate 26812355
Colorectal Neoplasms Associate 20945532, 29363918
Crohn Disease Associate 12631665