|
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 VRGKEPFHKMKQFLSDEQNILALRSIQGRQRENPGQSLNRLFQEVPKRRNGSEGNITTRI RASETGSDEAIKSILEQAKRELQVQKTAEPAQPSSASGSGNSDDAIRSILQQARREMEAQ QAALDPALKQAPLSQSDITILTPKLLSTSPMPTVSSYPPLAISLKKPSAAPEAGASALPN PPALKKEAQDAPGLDPQGAADCAQGVLRQVKNEVGRSGAWKDHWWSAVQPERRNAASSEE AKAEETGGGKEKGSGGSGGGSQPRAERSQLQGPSSSEYWKEWPSAESPYSQSSELSLTGA SRSETPQNSPLPSSPIVPMSKPTKPSVPPLTPEQYEVYMYQEVDTIELTRQVKEKLAKNG ICQRIFGEKVLGLSQGSVSDMLSRPKPWSKLTQKGREPFIRMQLWLNGELGQGVLPVQGQ QQGPVLHSVTSLQDPLQQGCVSSESTPKTSASCSPAPESPMSSSESVKSLTELVQQPCPP IEASKDSKPPEPSDPPASDSQPTTPLPLSGHSALSIQELVAMSPELDTYGITKRVKEVLT DNNLGQRLFGETILGLTQGSVSDLLARPKPWHKLSLKGREPFVRMQLWLNDPNNVEKLMD MKRMEKKAYMKRRHSSVSDSQPCEPPSVGTEYSQGASPQPQHQLKKPRVVLAPEEKEALK RAYQQKPYPSPKTIEDLATQLNLKTSTVINWFHNYRSRIRRELFIEEIQAGSQGQAGASD 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 |
|
| Sequence length |
678 |
| Interactions |
View interactions |
| 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, rs2485343245, rs2485475379, rs1586067642, rs2486093867, rs2486192113, rs782238335, rs2485417977, rs1554519798, rs1563398977, rs1563446668, rs1563470335, rs1562875556 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 |
|
|
|
| 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 |
| Glioblastoma |
Associate |
29036362 |
| Heart Failure |
Associate |
35128826 |
| Hereditary Breast and Ovarian Cancer Syndrome |
Associate |
27956696 |
| Inflammation |
Associate |
11371564, 32079724 |
| Intestinal Polyposis |
Associate |
20945532 |
| Kidney Failure Chronic |
Associate |
33933144 |
| Leiomyoma |
Associate |
35559861 |
| Leukemia |
Associate |
20945532 |
| Leukemia Lymphoma Adult T Cell |
Associate |
33562071 |
| Leukemia Myelogenous Chronic BCR ABL Positive |
Associate |
34784413, 35896598 |
| Leukemia Myeloid |
Associate |
18403643 |
| Leukemia Myeloid Acute |
Associate |
18403643, 22887079, 31320321, 37088137 |
| Lung Neoplasms |
Associate |
28592245, 37058478 |
| Lymphoma Large B Cell Diffuse |
Associate |
27835906 |
| Melanoma |
Associate |
17496784 |
| Migraine Disorders |
Associate |
34380431 |
| Myelodysplastic Syndromes |
Associate |
31320321, 32781289 |
| Myeloproliferative Disorders |
Associate |
21330321 |
| Neoplasms |
Associate |
11084046, 18403643, 20945532, 21245318, 21531982, 24553122, 27956696, 31320321, 35896598, 36199426, 40076915 |
| Neoplasms |
Stimulate |
26325577 |
| Neoplasms |
Inhibit |
29363918 |
| Nerve Degeneration |
Associate |
22622826 |
| Osteoporosis |
Associate |
37117763 |
| Precursor Cell Lymphoblastic Leukemia Lymphoma |
Associate |
21330321 |
| Prostatitis |
Associate |
27956696 |
| Renal Insufficiency Chronic |
Associate |
24253112 |
| Stomach Neoplasms |
Associate |
29363918 |
| Uterine Cervical Neoplasms |
Associate |
10684263, 37042849 |
|