Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
1523
Gene name Gene Name - the full gene name approved by the HGNC.
Cut like homeobox 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CUX1
Synonyms (NCBI Gene) Gene synonyms aliases
CASP, CDP, CDP/Cut, CDP1, COY1, CUTL1, CUX, Clox, Cux/CDP, GDDI, GOLIM6, NEDDMS, Nbla10317, p100, p110, p200, p75
Disease Acronyms (UniProt) Disease acronyms from UniProt database
GDDI
Chromosome Chromosome number
7
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
7q22.1
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
miRTarBase ID miRNA Experiments Reference
MIRT004087 hsa-miR-155-5p pSILAC 18668040
MIRT004087 hsa-miR-155-5p Microarray, qRT-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 factor Regulation Reference
E2F1 Unknown 18347061
E2F2 Unknown 18347061
E2F3 Unknown 18347061
E2F4 Unknown 18347061
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II TAS 1301999
GO:0000139 Component Golgi membrane IEA
GO:0000301 Process Retrograde transport, vesicle recycling within Golgi IEA
GO:0000785 Component Chromatin ISA
GO:0000977 Function RNA polymerase II transcription regulatory region sequence-specific DNA binding IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
116896 2557 ENSG00000257923
Protein
UniProt ID 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 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Breast cancer Malignant neoplasm of breast rs587776547, rs1137887, rs137853007, rs587776650, rs80359351, rs80359714, rs121917783, rs104886456, rs121964878, rs80359874, rs80357868, rs80357508, rs387906843, rs80357569, rs80358158
View all (309 more)
Breast carcinoma Breast Carcinoma rs80359671, rs11540652, rs28934575, rs28897672, rs137886232, rs193922376, rs80357783, rs80359306, rs80359405, rs80359507, rs80359598, rs80358429, rs397507683, rs397515636, rs80359451
View all (71 more)
29059683
Colorectal cancer Colorectal Carcinoma, Adenocarcinoma of large intestine rs137854568, rs137854573, rs137854575, rs387906234, rs121908380, rs121908702, rs267606674, rs794729661, rs121909055, rs281865417, rs267606884, rs28934575, rs587776769, rs104893815, rs587776800
View all (467 more)
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)
Unknown
Disease term Disease name Evidence References Source
Mental depression Unipolar Depression, Major Depressive Disorder 22584459, 21938001, 19376528 ClinVar
Developmental Delay global developmental delay with or without impaired intellectual development GenCC
Non-Syndromic Intellectual Disability autosomal dominant non-syndromic intellectual disability GenCC
Schizophrenia Schizophrenia GWAS
Associations from Text Mining
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