Q13948 (CASP_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 1, 2013.
Version 85.
History...
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: Protein CASP | ||||
| Gene names |
| ||||
| Organism | Homo sapiens (Human) [Reference proteome] | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo![]() |
Protein attributes
| Sequence length | 678 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| Function | May be involved in intra-Golgi retrograde transport. Ref.9 |
| Subunit structure | Homodimer; disulfide-linked. Interacts with GOLGA5. Ref.8 Ref.9 |
| Subcellular location | Golgi apparatus membrane; Single-pass type IV membrane protein Ref.8. |
| Sequence similarities | Belongs to the CASP family. |
Ontologies
| Keywords | |
|---|---|
| Biological process | Transport |
| Cellular component | Golgi apparatus Membrane |
| Coding sequence diversity | Alternative splicing Polymorphism |
| Domain | Coiled coil Transmembrane Transmembrane helix |
| PTM | Disulfide bond |
| Technical term | Complete proteome Reference proteome |
| Gene Ontology (GO) | |
| Biological_process | intra-Golgi vesicle-mediated transport Inferred from electronic annotation. Source: InterPro |
| Cellular_component | integral to Golgi membrane Inferred from electronic annotation. Source: InterPro |
| Complete GO annotation... | |
Alternative products
| This entry describes 11 isoforms produced by alternative splicing. [Align] [Select] Note: Additional isoforms seem to exist. | ||||||
| Isoform 4 (identifier: Q13948-1) Also known as: CASP; This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. | ||||||
| Isoform 11 (identifier: P39880-9) The sequence of this isoform can be found in the external entry P39880. Isoforms of the same protein are often annotated in two different entries if their sequences differ significantly. | ||||||
| Note: No experimental confirmation available. | ||||||
| Isoform 1 (identifier: P39880-1) The sequence of this isoform can be found in the external entry P39880. Isoforms of the same protein are often annotated in two different entries if their sequences differ significantly. | ||||||
| Isoform 2 (identifier: P39880-2) The sequence of this isoform can be found in the external entry P39880. Isoforms of the same protein are often annotated in two different entries if their sequences differ significantly. | ||||||
| Isoform 3 (identifier: P39880-3) The sequence of this isoform can be found in the external entry P39880. Isoforms of the same protein are often annotated in two different entries if their sequences differ significantly. | ||||||
| Note: No experimental confirmation available. | ||||||
| Isoform 5 (identifier: P39880-4) The sequence of this isoform can be found in the external entry P39880. Isoforms of the same protein are often annotated in two different entries if their sequences differ significantly. | ||||||
| Isoform 6 (identifier: P39880-5) The sequence of this isoform can be found in the external entry P39880. Isoforms of the same protein are often annotated in two different entries if their sequences differ significantly. | ||||||
| Isoform 7 (identifier: P39880-6) The sequence of this isoform can be found in the external entry P39880. Isoforms of the same protein are often annotated in two different entries if their sequences differ significantly. | ||||||
| Isoform 8 (identifier: Q13948-2) The sequence of this isoform differs from the canonical sequence as follows: 288-289: Missing. | ||||||
| Note: No experimental confirmation available. | ||||||
| Isoform 9 (identifier: Q13948-9) The sequence of this isoform differs from the canonical sequence as follows: 22-58: Missing. 288-289: Missing. | ||||||
| Note: No experimental confirmation available. | ||||||
| Isoform 10 (identifier: Q13948-10) The sequence of this isoform differs from the canonical sequence as follows: 58-73: Missing. | ||||||
| Note: No experimental confirmation available. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 678 | 678 | Protein CASP | PRO_0000071790 | |||||
Regions | |||||||||
| Topological domain | 1 – 619 | 619 | Cytoplasmic Potential | ||||||
| Transmembrane | 620 – 640 | 21 | Helical; Anchor for type IV membrane protein; Potential | ||||||
| Topological domain | 641 – 678 | 38 | Lumenal Potential | ||||||
| Coiled coil | 67 – 450 | 384 | Potential | ||||||
| Coiled coil | 502 – 556 | 55 | Potential | ||||||
Natural variations | |||||||||
| Alternative sequence | 22 – 58 | 37 | Missing in isoform 9. | VSP_045593 | |||||
| Alternative sequence | 58 – 73 | 16 | Missing in isoform 10. | VSP_045927 | |||||
| Alternative sequence | 288 – 289 | 2 | Missing in isoform 8 and isoform 9. | VSP_040094 | |||||
| Natural variant | 464 | 1 | A → T. Ref.2 Ref.3 Corresponds to variant rs803064 [ dbSNP | Ensembl ]. | VAR_024923 | |||||
| Natural variant | 490 | 1 | S → G in a breast cancer sample; somatic mutation. Ref.12 | VAR_036285 | |||||
| Natural variant | 545 | 1 | I → V. Ref.6 Corresponds to variant rs2230103 [ dbSNP | Ensembl ]. | VAR_024924 | |||||
| Natural variant | 609 | 1 | R → C in a colorectal cancer sample; somatic mutation. Ref.12 | VAR_036286 | |||||
Experimental info | |||||||||
| Mutagenesis | 624 | 1 | Y → L: Retained in the endoplasmic reticulum. Ref.8 | ||||||
| Mutagenesis | 629 | 1 | H → L: No effect on subcellular location. Ref.8 | ||||||
| Sequence conflict | 407 | 1 | N → S in AAH25422. Ref.6 | ||||||
| Sequence conflict | 455 | 1 | I → V in BAG64254. Ref.2 | ||||||
| Sequence conflict | 525 | 1 | L → V in BAG64254. Ref.2 | ||||||
| Sequence conflict | 551 | 1 | I → V in BAD96552. Ref.3 | ||||||
| Sequence conflict | 613 | 1 | S → P in BAG54140. Ref.2 | ||||||
| Sequence conflict | 657 | 1 | F → L in AAA35654. Ref.1 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "CASP, a novel, highly conserved alternative-splicing product of the CDP/cut/cux gene, lacks cut-repeat and homeo DNA-binding domains, and interacts with full-length CDP in vitro." Lievens P.M.-J., Tufarelli C., Donady J.J., Stagg A., Neufeld E.J. Gene 197:73-81(1997) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1). Tissue: Umbilical vein. |
| [2] | "Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. Sugano S.Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1; 9 AND 10), VARIANT THR-464. Tissue: Thalamus, Thymus and Tongue. |
| [3] | Suzuki Y., Sugano S., Totoki Y., Toyoda A., Takeda T., Sakaki Y., Tanaka A., Yokoyama S. Submitted (APR-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT THR-464. Tissue: Liver. |
| [4] | "The DNA sequence of human chromosome 7." Hillier L.W., Fulton R.S., Fulton L.A., Graves T.A., Pepin K.H., Wagner-McPherson C., Layman D., Maas J., Jaeger S., Walker R., Wylie K., Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E., Fewell G.A., Delehaunty K.D., Miner T.L. Wilson R.K.Nature 424:157-164(2003) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [5] | Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. Venter J.C.Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [6] | "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), VARIANT VAL-545. Tissue: Colon. |
| [7] | "Exon/intron structure and alternative transcripts of the CUTL1 gene." Rong Zeng W., Soucie E., Sung Moon N., Martin-Soudant N., Berube G., Leduy L., Nepveu A. Gene 241:75-85(2000) [PubMed] [Europe PMC] [Abstract] Cited for: ALTERNATIVE SPLICING. |
| [8] | "CASP, the alternatively spliced product of the gene encoding the CCAAT-displacement protein transcription factor, is a Golgi membrane protein related to giantin." Gillingham A.K., Pfeifer A.C., Munro S. Mol. Biol. Cell 13:3761-3774(2002) [PubMed] [Europe PMC] [Abstract] Cited for: SUBCELLULAR LOCATION, ALTERNATIVE SPLICING, SUBUNIT, MUTAGENESIS OF TYR-624 AND HIS-629. |
| [9] | "Golgin tethers define subpopulations of COPI vesicles." Malsam J., Satoh A., Pelletier L., Warren G. Science 307:1095-1098(2005) [PubMed] [Europe PMC] [Abstract] Cited for: FUNCTION, INTERACTION WITH GOLGA5. |
| [10] | "ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage." Matsuoka S., Ballif B.A., Smogorzewska A., McDonald E.R. III, Hurov K.E., Luo J., Bakalarski C.E., Zhao Z., Solimini N., Lerenthal Y., Shiloh Y., Gygi S.P., Elledge S.J. Science 316:1160-1166(2007) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. Tissue: Embryonic kidney. |
| [11] | "Initial characterization of the human central proteome." Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J. BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. |
| [12] | "The consensus coding sequences of human breast and colorectal cancers." Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V. Velculescu V.E.Science 314:268-274(2006) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS [LARGE SCALE ANALYSIS] GLY-490 AND CYS-609. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | L12579 mRNA. Translation: AAA35654.1. AK125076 mRNA. Translation: BAG54135.1. AK125097 mRNA. Translation: BAG54140.1. AK303151 mRNA. Translation: BAG64254.1. AK222832 mRNA. Translation: BAD96552.1. AC005072 Genomic DNA. No translation available. AC005086 Genomic DNA. Translation: AAP22331.1. AC005088 Genomic DNA. No translation available. AC005096 Genomic DNA. Translation: AAS07410.1. AC005103 Genomic DNA. Translation: AAS07388.1. AC092788 Genomic DNA. Translation: AAS07523.1. CH471197 Genomic DNA. Translation: EAW50227.1. BC025422 mRNA. Translation: AAH25422.1. |
| IPI | IPI00071696. IPI00926621. IPI00927318. IPI00979706. |
| RefSeq | NP_001189473.1. NM_001202544.1. NP_001189474.1. NM_001202545.1. NP_001189475.1. NM_001202546.1. NP_001904.2. NM_001913.3. NP_852477.1. NM_181500.2. |
| UniGene | Hs.191482. |
3D structure databases | |
| ProteinModelPortal | Q13948. |
| SMR | Q13948. Positions 15-41. |
| ModBase | Search... |
Polymorphism databases | |
| DMDM | 85681028. |
Proteomic databases | |
| PaxDb | Q13948. |
| PRIDE | Q13948. |
Protocols and materials databases | |
| DNASU | 1523. |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000292538; ENSP00000292538; ENSG00000257923. ENST00000393824; ENSP00000377410; ENSG00000257923. ENST00000437600; ENSP00000414091; ENSG00000257923. ENST00000547394; ENSP00000449371; ENSG00000257923. ENST00000561974; ENSP00000455766; ENSG00000259938. ENST00000562243; ENSP00000457546; ENSG00000259938. ENST00000565172; ENSP00000456937; ENSG00000259938. ENST00000567764; ENSP00000455653; ENSG00000259938. |
| GeneID | 1523. |
| KEGG | hsa:1523. |
| UCSC | uc003uyt.3. human. uc003uyu.3. human. |
Organism-specific databases | |
| CTD | 1523. |
| GeneCards | GC07P101459. |
| HGNC | HGNC:2557. CUX1. |
| HPA | HPA003317. |
| MIM | 116896. gene. |
| neXtProt | NX_Q13948. |
| PharmGKB | PA162382924. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | NOG325167. |
| HOVERGEN | HBG053415. |
| KO | K09313. |
| OrthoDB | EOG412M69. |
Gene expression databases | |
| ArrayExpress | Q13948. |
| Bgee | Q13948. |
| CleanEx | HS_CUX1. |
| Genevestigator | Q13948. |
Family and domain databases | |
| InterPro | IPR012955. CASP_C. [Graphical view] |
| Pfam | PF08172. CASP_C. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other | |
| ChiTaRS | CUX1. human. |
| GenomeRNAi | 1523. |
| NextBio | 35535186. |
| SOURCE | Search... |
Entry information
| Entry name | CASP_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q13948 Secondary accession number(s): B3KWH3 Q8TBS3 | ||||||||
| Entry history |
| ||||||||
| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation program | Chordata Protein Annotation Program | ||||||||
| Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. | ||||||||
Relevant documents
| Human chromosome 7 Human chromosome 7: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| SIMILARITY comments Index of protein domains and families |

Clusters with
