Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

Protein CASC1

Gene

CASC1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 3 out of 5-Experimental evidence at transcript leveli

Names & Taxonomyi

Protein namesi
Recommended name:
Protein CASC1
Alternative name(s):
Cancer susceptibility candidate gene 1 protein
Lung adenoma susceptibility 1-like protein
Protein phosphatase 1 regulatory subunit 54
Gene namesi
Name:CASC1
Synonyms:LAS1, PPP1R54
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 12

Organism-specific databases

HGNCiHGNC:29599. CASC1.

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA134895953.

Polymorphism and mutation databases

BioMutaiCASC1.
DMDMi313104089.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 716716Protein CASC1PRO_0000332731Add
BLAST

Proteomic databases

MaxQBiQ6TDU7.
PaxDbiQ6TDU7.
PeptideAtlasiQ6TDU7.
PRIDEiQ6TDU7.

PTM databases

iPTMnetiQ6TDU7.
PhosphoSiteiQ6TDU7.

Expressioni

Gene expression databases

BgeeiQ6TDU7.
CleanExiHS_CASC1.
ExpressionAtlasiQ6TDU7. baseline and differential.
GenevisibleiQ6TDU7. HS.

Organism-specific databases

HPAiHPA039662.

Interactioni

Protein-protein interaction databases

BioGridi120550. 5 interactions.
IntActiQ6TDU7. 1 interaction.
STRINGi9606.ENSP00000379310.

Structurei

3D structure databases

ProteinModelPortaliQ6TDU7.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi5 – 84Poly-Lys
Compositional biasi20 – 8869Glu-richAdd
BLAST

Sequence similaritiesi

Belongs to the CASC1 family.Curated

Phylogenomic databases

eggNOGiENOG410IHQX. Eukaryota.
ENOG410ZX66. LUCA.
GeneTreeiENSGT00390000004708.
HOGENOMiHOG000050240.
HOVERGENiHBG107574.
InParanoidiQ6TDU7.
KOiK17580.
PhylomeDBiQ6TDU7.

Family and domain databases

InterProiIPR023247. Casc1.
IPR031826. Casc1_N.
[Graphical view]
PfamiPF15927. Casc1_N. 1 hit.
[Graphical view]
PRINTSiPR02043. CANCERSCCP1.

Sequences (4)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q6TDU7-1) [UniParc]FASTAAdd to basket

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.

« Hide

        10         20         30         40         50
MSGSKKKKVT KAERLKLLQE EEERRLKEEE EARLKYEKEE MERLEIQRIE
60 70 80 90 100
KEKWHRLEAK DLERRNEELE ELYLLERCFP EAEKLKQETK LLSQWKHYIQ
110 120 130 140 150
CDGSPDPSVA QEMNTFISLW KEKTNETFEE VIEKSKVVLN LIEKLKFILL
160 170 180 190 200
ETPPCDLQDK NIIQYQESIL QLQELLHLKF GVATEILLKQ ASTLADLDSG
210 220 230 240 250
NMEKVIKDEN VTLYVWANLK KNPRHRSVRF SETQIGFEIP RILATSDIAV
260 270 280 290 300
RLLHTHYDHV SALHPVSTPS KEYTSAVTEL VKDDVKNVEK AISKEVEEES
310 320 330 340 350
KQQERGSHLI QEEEIKVEEE QGDIEVKMSS AEEESEAIKC EREMKVLSET
360 370 380 390 400
VSAAQLLLVE NSSEKPDFFE DNVVDLCQFT TLGGVYHLDI LELPPQCKPV
410 420 430 440 450
KGWMIVEILK EGLQKYTYPP ETTEEFETEN AFPPIEVTLE VHENVIFFED
460 470 480 490 500
PVVVRWDAEG KHWRTDGISN VSYKPKERLV TFSLDTFGPV TLIQDAHINM
510 520 530 540 550
PYQSWELRPL DVNKVLLTVT TVFTEIQIQI KENLCMLSSI KLKDKKHISI
560 570 580 590 600
LEGTWMTPIP FIIALKEAGL NIFPTRHSHF YVIINNKVPL VEVKAYRQMA
610 620 630 640 650
LLSSAFAFGW SKWNLLCNST KVVFKVREHL TEACTENPNW ALLMFSGDRA
660 670 680 690 700
QRLKIKEESE AFSEALKEET EFHSTLYHMV KDFASEEAME KVRSSNCQFV
710
NSVCHMLLST RLLSYS
Length:716
Mass (Da):83,160
Last modified:November 30, 2010 - v2
Checksum:iBDDCE21CB7E701B6
GO
Isoform 2 (identifier: Q6TDU7-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-40: Missing.

Note: No experimental confirmation available.
Show »
Length:676
Mass (Da):78,271
Checksum:i4BD6965C94C15D13
GO
Isoform 3 (identifier: Q6TDU7-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MRQTGGGATTDSASPVLNNVIKSQSYFTAKRVGLGNNSYLGVGRPSSQQWLSLPGPGGQGPKAKK
     626-626: V → W
     627-716: Missing.

Note: No experimental confirmation available.
Show »
Length:690
Mass (Da):79,372
Checksum:i953D0341CA7037B8
GO
Isoform 4 (identifier: Q6TDU7-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-60: MSGSKKKKVTKAERLKLLQEEEERRLKEEEEARLKYEKEEMERLEIQRIEKEKWHRLEAK → M

Note: No experimental confirmation available.
Show »
Length:657
Mass (Da):75,797
Checksum:i9A5D380A7C20A648
GO

Sequence cautioni

The sequence BAA91908.1 differs from that shown. Reason: Frameshift at position 438. Curated
The sequence BAA91908.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti33 – 331R → S.1 Publication
Corresponds to variant rs10842496 [ dbSNP | Ensembl ].
VAR_043008
Natural varianti633 – 6331A → E.4 Publications
Corresponds to variant rs859146 [ dbSNP | Ensembl ].
VAR_062232

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 6060MSGSK…RLEAK → M in isoform 4. 1 PublicationVSP_046917Add
BLAST
Alternative sequencei1 – 4040Missing in isoform 2. 1 PublicationVSP_033380Add
BLAST
Alternative sequencei1 – 11M → MRQTGGGATTDSASPVLNNV IKSQSYFTAKRVGLGNNSYL GVGRPSSQQWLSLPGPGGQG PKAKK in isoform 3. 1 PublicationVSP_033381
Alternative sequencei626 – 6261V → W in isoform 3. 1 PublicationVSP_033382
Alternative sequencei627 – 71690Missing in isoform 3. 1 PublicationVSP_033383Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY423543 mRNA. Translation: AAQ93499.1.
AK001783 mRNA. Translation: BAA91908.1. Sequence problems.
AK297998 mRNA. Translation: BAG60304.1.
AC023510 Genomic DNA. No translation available.
AC092794 Genomic DNA. No translation available.
CH471094 Genomic DNA. Translation: EAW96509.1.
BC028415 mRNA. Translation: AAH28415.1.
BC047415 mRNA. Translation: AAH47415.2.
BC057795 mRNA. Translation: AAH57795.1.
BC117281 mRNA. Translation: AAI17282.2.
BC117283 mRNA. Translation: AAI17284.2.
CCDSiCCDS41762.1. [Q6TDU7-1]
CCDS41763.1. [Q6TDU7-3]
CCDS55810.1. [Q6TDU7-2]
CCDS55811.1. [Q6TDU7-4]
RefSeqiNP_001076441.1. NM_001082972.2. [Q6TDU7-3]
NP_001076442.1. NM_001082973.2.
NP_001191030.1. NM_001204101.2.
NP_001191031.1. NM_001204102.2.
NP_001306906.1. NM_001319977.1.
NP_001306907.1. NM_001319978.1.
NP_060742.3. NM_018272.4.
UniGeneiHs.407771.

Genome annotation databases

EnsembliENST00000320267; ENSP00000313141; ENSG00000118307. [Q6TDU7-1]
ENST00000354189; ENSP00000346126; ENSG00000118307. [Q6TDU7-3]
ENST00000395990; ENSP00000379313; ENSG00000118307. [Q6TDU7-2]
ENST00000545133; ENSP00000437373; ENSG00000118307. [Q6TDU7-4]
GeneIDi55259.
KEGGihsa:55259.
UCSCiuc001rgj.4. human. [Q6TDU7-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY423543 mRNA. Translation: AAQ93499.1.
AK001783 mRNA. Translation: BAA91908.1. Sequence problems.
AK297998 mRNA. Translation: BAG60304.1.
AC023510 Genomic DNA. No translation available.
AC092794 Genomic DNA. No translation available.
CH471094 Genomic DNA. Translation: EAW96509.1.
BC028415 mRNA. Translation: AAH28415.1.
BC047415 mRNA. Translation: AAH47415.2.
BC057795 mRNA. Translation: AAH57795.1.
BC117281 mRNA. Translation: AAI17282.2.
BC117283 mRNA. Translation: AAI17284.2.
CCDSiCCDS41762.1. [Q6TDU7-1]
CCDS41763.1. [Q6TDU7-3]
CCDS55810.1. [Q6TDU7-2]
CCDS55811.1. [Q6TDU7-4]
RefSeqiNP_001076441.1. NM_001082972.2. [Q6TDU7-3]
NP_001076442.1. NM_001082973.2.
NP_001191030.1. NM_001204101.2.
NP_001191031.1. NM_001204102.2.
NP_001306906.1. NM_001319977.1.
NP_001306907.1. NM_001319978.1.
NP_060742.3. NM_018272.4.
UniGeneiHs.407771.

3D structure databases

ProteinModelPortaliQ6TDU7.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi120550. 5 interactions.
IntActiQ6TDU7. 1 interaction.
STRINGi9606.ENSP00000379310.

PTM databases

iPTMnetiQ6TDU7.
PhosphoSiteiQ6TDU7.

Polymorphism and mutation databases

BioMutaiCASC1.
DMDMi313104089.

Proteomic databases

MaxQBiQ6TDU7.
PaxDbiQ6TDU7.
PeptideAtlasiQ6TDU7.
PRIDEiQ6TDU7.

Protocols and materials databases

DNASUi55259.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000320267; ENSP00000313141; ENSG00000118307. [Q6TDU7-1]
ENST00000354189; ENSP00000346126; ENSG00000118307. [Q6TDU7-3]
ENST00000395990; ENSP00000379313; ENSG00000118307. [Q6TDU7-2]
ENST00000545133; ENSP00000437373; ENSG00000118307. [Q6TDU7-4]
GeneIDi55259.
KEGGihsa:55259.
UCSCiuc001rgj.4. human. [Q6TDU7-1]

Organism-specific databases

CTDi55259.
GeneCardsiCASC1.
HGNCiHGNC:29599. CASC1.
HPAiHPA039662.
MIMi616906. gene.
neXtProtiNX_Q6TDU7.
PharmGKBiPA134895953.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IHQX. Eukaryota.
ENOG410ZX66. LUCA.
GeneTreeiENSGT00390000004708.
HOGENOMiHOG000050240.
HOVERGENiHBG107574.
InParanoidiQ6TDU7.
KOiK17580.
PhylomeDBiQ6TDU7.

Miscellaneous databases

GenomeRNAii55259.
PROiQ6TDU7.
SOURCEiSearch...

Gene expression databases

BgeeiQ6TDU7.
CleanExiHS_CASC1.
ExpressionAtlasiQ6TDU7. baseline and differential.
GenevisibleiQ6TDU7. HS.

Family and domain databases

InterProiIPR023247. Casc1.
IPR031826. Casc1_N.
[Graphical view]
PfamiPF15927. Casc1_N. 1 hit.
[Graphical view]
PRINTSiPR02043. CANCERSCCP1.
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "Positional cloning of the major quantitative trait locus underlying lung tumor susceptibility in mice."
    Zhang Z., Futamura M., Vikis H.G., Wang M., Li J., Wang Y., Guan K.-L., You M.
    Proc. Natl. Acad. Sci. U.S.A. 100:12642-12647(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT GLU-633.
  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.
    , 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] (ISOFORM 4), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 166-716 (ISOFORM 1), VARIANT GLU-633.
    Tissue: Lung and Ovarian carcinoma.
  3. "The finished DNA sequence of human chromosome 12."
    Scherer S.E., Muzny D.M., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J., Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R.
    , Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Montgomery K.T., Morgan M.B., Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Lovering R.C., Wheeler D.A., Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z., Clerc-Blankenburg K.P., Davis C., Delgado O., Dinh H.H., Draper H., Gonzalez-Garay M.L., Havlak P., Jackson L.R., Jacob L.S., Kelly S.H., Li L., Li Z., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Pasternak S., Perez L.M., Plopper F.J.H., Santibanez J., Shen H., Tabor P.E., Verduzco D., Waldron L., Wang Q., Williams G.A., Zhang J., Zhou J., Allen C.C., Amin A.G., Anyalebechi V., Bailey M., Barbaria J.A., Bimage K.E., Bryant N.P., Burch P.E., Burkett C.E., Burrell K.L., Calderon E., Cardenas V., Carter K., Casias K., Cavazos I., Cavazos S.R., Ceasar H., Chacko J., Chan S.N., Chavez D., Christopoulos C., Chu J., Cockrell R., Cox C.D., Dang M., Dathorne S.R., David R., Davis C.M., Davy-Carroll L., Deshazo D.R., Donlin J.E., D'Souza L., Eaves K.A., Egan A., Emery-Cohen A.J., Escotto M., Flagg N., Forbes L.D., Gabisi A.M., Garza M., Hamilton C., Henderson N., Hernandez O., Hines S., Hogues M.E., Huang M., Idlebird D.G., Johnson R., Jolivet A., Jones S., Kagan R., King L.M., Leal B., Lebow H., Lee S., LeVan J.M., Lewis L.C., London P., Lorensuhewa L.M., Loulseged H., Lovett D.A., Lucier A., Lucier R.L., Ma J., Madu R.C., Mapua P., Martindale A.D., Martinez E., Massey E., Mawhiney S., Meador M.G., Mendez S., Mercado C., Mercado I.C., Merritt C.E., Miner Z.L., Minja E., Mitchell T., Mohabbat F., Mohabbat K., Montgomery B., Moore N., Morris S., Munidasa M., Ngo R.N., Nguyen N.B., Nickerson E., Nwaokelemeh O.O., Nwokenkwo S., Obregon M., Oguh M., Oragunye N., Oviedo R.J., Parish B.J., Parker D.N., Parrish J., Parks K.L., Paul H.A., Payton B.A., Perez A., Perrin W., Pickens A., Primus E.L., Pu L.-L., Puazo M., Quiles M.M., Quiroz J.B., Rabata D., Reeves K., Ruiz S.J., Shao H., Sisson I., Sonaike T., Sorelle R.P., Sutton A.E., Svatek A.F., Svetz L.A., Tamerisa K.S., Taylor T.R., Teague B., Thomas N., Thorn R.D., Trejos Z.Y., Trevino B.K., Ukegbu O.N., Urban J.B., Vasquez L.I., Vera V.A., Villasana D.M., Wang L., Ward-Moore S., Warren J.T., Wei X., White F., Williamson A.L., Wleczyk R., Wooden H.S., Wooden S.H., Yen J., Yoon L., Yoon V., Zorrilla S.E., Nelson D., Kucherlapati R., Weinstock G., Gibbs R.A.
    Nature 440:346-351(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANT GLU-633.
    Tissue: Testis.
  5. "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] (ISOFORMS 1; 2 AND 3), VARIANT GLU-633.
    Tissue: Colon and Testis.
  6. "A V141L polymorphism of the human LRMP gene is associated with survival of lung cancer patients."
    Manenti G., Galbiati F., Pettinicchio A., Spinola M., Piconese S., Leoni V.P., Conti B., Ravagnani F., Incarbone M., Pastorino U., Dragani T.A.
    Carcinogenesis 27:1386-1390(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT SER-33.

Entry informationi

Entry nameiCASC1_HUMAN
AccessioniPrimary (citable) accession number: Q6TDU7
Secondary accession number(s): B4DNP2
, F5H6T6, Q17RL2, Q4G171, Q5U5K5, Q9NV50
Entry historyi
Integrated into UniProtKB/Swiss-Prot: April 29, 2008
Last sequence update: November 30, 2010
Last modified: July 6, 2016
This is version 85 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 12
    Human chromosome 12: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.