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Q13948 (CASP_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 95. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Protein CASP
Gene names
Name:CUX1
Synonyms:CUTL1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length678 AA.
Sequence statusComplete.
Protein existenceEvidence 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 processTransport
   Cellular componentGolgi apparatus
Membrane
   Coding sequence diversityAlternative splicing
Polymorphism
   DomainCoiled coil
Transmembrane
Transmembrane helix
   PTMDisulfide bond
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processintra-Golgi vesicle-mediated transport

Inferred from electronic annotation. Source: InterPro

   Cellular_componentintegral component of 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 keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 678678Protein CASP
PRO_0000071790

Regions

Topological domain1 – 619619Cytoplasmic Potential
Transmembrane620 – 64021Helical; Anchor for type IV membrane protein; Potential
Topological domain641 – 67838Lumenal Potential
Coiled coil67 – 450384 Potential
Coiled coil502 – 55655 Potential

Natural variations

Alternative sequence22 – 5837Missing in isoform 9.
VSP_045593
Alternative sequence58 – 7316Missing in isoform 10.
VSP_045927
Alternative sequence288 – 2892Missing in isoform 8 and isoform 9.
VSP_040094
Natural variant4641A → T. Ref.2 Ref.3
Corresponds to variant rs803064 [ dbSNP | Ensembl ].
VAR_024923
Natural variant4901S → G in a breast cancer sample; somatic mutation. Ref.12
VAR_036285
Natural variant5451I → V. Ref.6
Corresponds to variant rs2230103 [ dbSNP | Ensembl ].
VAR_024924
Natural variant6091R → C in a colorectal cancer sample; somatic mutation. Ref.12
VAR_036286

Experimental info

Mutagenesis6241Y → L: Retained in the endoplasmic reticulum. Ref.8
Mutagenesis6291H → L: No effect on subcellular location. Ref.8
Sequence conflict4071N → S in AAH25422. Ref.6
Sequence conflict4551I → V in BAG64254. Ref.2
Sequence conflict5251L → V in BAG64254. Ref.2
Sequence conflict5511I → V in BAD96552. Ref.3
Sequence conflict6131S → P in BAG54140. Ref.2
Sequence conflict6571F → L in AAA35654. Ref.1

Sequences

Sequence LengthMass (Da)Tools
Isoform 4 (CASP) [UniParc].

Last modified January 10, 2006. Version 2.
Checksum: E587F222825EA47E

FASTA67877,455
        10         20         30         40         50         60 
MAANVGSMFQ YWKRFDLQQL QRELDATATV LANRQDESEQ SRKRLIEQSR EFKKNTPEDL 

        70         80         90        100        110        120 
RKQVAPLLKS FQGEIDALSK RSKEAEAAFL NVYKRLIDVP DPVPALDLGQ QLQLKVQRLH 

       130        140        150        160        170        180 
DIETENQKLR ETLEEYNKEF AEVKNQEVTI KALKEKIREY EQTLKNQAET IALEKEQKLQ 

       190        200        210        220        230        240 
NDFAEKERKL QETQMSTTSK LEEAEHKVQS LQTALEKTRT ELFDLKTKYD EETTAKADEI 

       250        260        270        280        290        300 
EMIMTDLERA NQRAEVAQRE AETLREQLSS ANHSLQLASQ IQKAPDVEQA IEVLTRSSLE 

       310        320        330        340        350        360 
VELAAKEREI AQLVEDVQRL QASLTKLREN SASQISQLEQ QLSAKNSTLK QLEEKLKGQA 

       370        380        390        400        410        420 
DYEEVKKELN ILKSMEFAPS EGAGTQDAAK PLEVLLLEKN RSLQSENAAL RISNSDLSGR 

       430        440        450        460        470        480 
CAELQVRITE AVATATEQRE LIARLEQDLS IIQSIQRPDA EGAAEHRLEK IPEPIKEATA 

       490        500        510        520        530        540 
LFYGPAAPAS GALPEGQVDS LLSIISSQRE RFRARNQELE AENRLAQHTL QALQSELDSL 

       550        560        570        580        590        600 
RADNIKLFEK IKFLQSYPGR GSGSDDTELR YSSQYEERLD PFSSFSKRER QRKYLSLSPW 

       610        620        630        640        650        660 
DKATLSMGRL VLSNKMARTI GFFYTLFLHC LVFLVLYKLA WSESMERDCA TFCAKKFADH 

       670 
LHKFHENDNG AAAGDLWQ 

« Hide

Isoform 11 [UniParc].

See P39880.

Isoform 1 [UniParc].

See P39880.

Isoform 2 [UniParc].

See P39880.

Isoform 3 [UniParc].

See P39880.

Isoform 5 [UniParc].

See P39880.

Isoform 6 [UniParc].

See P39880.

Isoform 7 [UniParc].

See P39880.

Isoform 8 [UniParc].

Checksum: 727AC64B50C59153
Show »

FASTA67677,198
Isoform 9 [UniParc].

Checksum: 92BB146A2065C5CE
Show »

FASTA63972,841
Isoform 10 [UniParc].

Checksum: CBAF60CA80A21247
Show »

FASTA66275,644

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. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., 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. expand/collapse author list , Nash W.E., Cordes M., Du H., Sun H., Edwards J., Bradshaw-Cordum H., Ali J., Andrews S., Isak A., Vanbrunt A., Nguyen C., Du F., Lamar B., Courtney L., Kalicki J., Ozersky P., Bielicki L., Scott K., Holmes A., Harkins R., Harris A., Strong C.M., Hou S., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Leonard S., Rohlfing T., Rock S.M., Tin-Wollam A.-M., Abbott A., Minx P., Maupin R., Strowmatt C., Latreille P., Miller N., Johnson D., Murray J., Woessner J.P., Wendl M.C., Yang S.-P., Schultz B.R., Wallis J.W., Spieth J., Bieri T.A., Nelson J.O., Berkowicz N., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Bedell J.A., Mardis E.R., Clifton S.W., Chissoe S.L., Marra M.A., Raymond C., Haugen E., Gillett W., Zhou Y., James R., Phelps K., Iadanoto S., Bubb K., Simms E., Levy R., Clendenning J., Kaul R., Kent W.J., Furey T.S., Baertsch R.A., Brent M.R., Keibler E., Flicek P., Bork P., Suyama M., Bailey J.A., Portnoy M.E., Torrents D., Chinwalla A.T., Gish W.R., Eddy S.R., McPherson J.D., Olson M.V., Eichler E.E., Green E.D., Waterston R.H., 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. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., 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. expand/collapse author list , Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H., Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W., 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.
CCDSCCDS47672.1. [Q13948-2]
CCDS56500.1. [Q13948-10]
CCDS5720.1. [Q13948-1]
CCDS59071.1. [Q13948-9]
RefSeqNP_001189473.1. NM_001202544.2. [Q13948-10]
NP_001189474.1. NM_001202545.2.
NP_001189475.1. NM_001202546.2. [Q13948-9]
NP_001904.2. NM_001913.4. [Q13948-1]
NP_852477.1. NM_181500.3. [Q13948-2]
UniGeneHs.191482.

3D structure databases

ProteinModelPortalQ13948.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid107903. 19 interactions.

Polymorphism databases

DMDM85681028.

Proteomic databases

MaxQBQ13948.
PaxDbQ13948.
PRIDEQ13948.

Protocols and materials databases

DNASU1523.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000292538; ENSP00000292538; ENSG00000257923. [Q13948-1]
ENST00000393824; ENSP00000377410; ENSG00000257923. [Q13948-9]
ENST00000437600; ENSP00000414091; ENSG00000257923. [Q13948-2]
ENST00000547394; ENSP00000449371; ENSG00000257923. [Q13948-10]
ENST00000561974; ENSP00000455766; ENSG00000259938. [Q13948-2]
ENST00000562243; ENSP00000457546; ENSG00000259938. [Q13948-1]
ENST00000565172; ENSP00000456937; ENSG00000259938. [Q13948-9]
ENST00000567764; ENSP00000455653; ENSG00000259938. [Q13948-10]
GeneID1523.
KEGGhsa:1523.
UCSCuc003uyt.3. human. [Q13948-1]
uc003uyu.3. human. [Q13948-2]

Organism-specific databases

CTD1523.
GeneCardsGC07P101459.
HGNCHGNC:2557. CUX1.
HPAHPA003317.
MIM116896. gene.
neXtProtNX_Q13948.
PharmGKBPA162382924.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG325167.
HOVERGENHBG053415.
KOK09313.
OMAIGGSKCK.

Enzyme and pathway databases

SignaLinkQ13948.

Gene expression databases

ArrayExpressQ13948.
BgeeQ13948.
CleanExHS_CUX1.
GenevestigatorQ13948.

Family and domain databases

InterProIPR012955. CASP_C.
[Graphical view]
PfamPF08172. CASP_C. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSCUX1. human.
GenomeRNAi1523.
NextBio35535186.
PROQ13948.
SOURCESearch...

Entry information

Entry nameCASP_HUMAN
AccessionPrimary (citable) accession number: Q13948
Secondary accession number(s): B3KWH3 expand/collapse secondary AC list , B3KWH8, B4DZZ2, G3V1Z6, J3KPQ6, Q53GU9, Q8TBS3
Entry history
Integrated into UniProtKB/Swiss-Prot: January 10, 2006
Last sequence update: January 10, 2006
Last modified: July 9, 2014
This is version 95 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 7

Human chromosome 7: entries, gene names and cross-references to MIM