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Q96AJ1 (CLUA1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 90. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (4) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Clusterin-associated protein 1
Alternative name(s):
Qilin
Gene names
Name:CLUAP1
Synonyms:KIAA0643
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length413 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Required for cilia biogenesis. Appears to function within the multiple intraflagellar transport complex B (IFT-B). Key regulator of hedgehog signaling By similarity.

Subunit structure

Interacts with CLU/clusterin. Ref.1

Subcellular location

Nucleus. Cell projectioncilium Ref.1 Ref.5.

Tissue specificity

Expressed in testis, thyroid and trachea and to a lower extent in spinal cord and adrenal gland. Highly expressed in colon cancer and osteosarcoma cell lines. Ref.1 Ref.6

Miscellaneous

Associated with a number of cancers such as colon (Ref.1) and bone cancer (Ref.6). Possibly involved in polycystic kidney diseases (Ref.5).

Sequence similarities

Belongs to the CLUAP1 family.

Sequence caution

The sequence BAA31618.1 differs from that shown. Reason: Intron retention.

The sequence BAB14523.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

Ontologies

Keywords
   Biological processCilium biogenesis/degradation
   Cellular componentCell projection
Cilium
Nucleus
   Coding sequence diversityAlternative splicing
Polymorphism
   DomainCoiled coil
   PTMPhosphoprotein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processcell projection organization

Inferred from electronic annotation. Source: UniProtKB-KW

   Cellular_componentcilium

Inferred from electronic annotation. Source: UniProtKB-SubCell

intracellular membrane-bounded organelle

Inferred from direct assay. Source: HPA

nucleus

Inferred from direct assay. Source: HPA

Complete GO annotation...

Binary interactions

With

Entry

#Exp.

IntAct

Notes

MAGEA11P433642EBI-739780,EBI-739552

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q96AJ1-1)

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 2 (identifier: Q96AJ1-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-166: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 413413Clusterin-associated protein 1
PRO_0000239451

Regions

Coiled coil198 – 29194 Potential
Compositional bias360 – 38627Asp-rich

Amino acid modifications

Modified residue4091Phosphoserine Ref.8

Natural variations

Alternative sequence1 – 166166Missing in isoform 2.
VSP_019229
Natural variant681A → S.
Corresponds to variant rs34115694 [ dbSNP | Ensembl ].
VAR_050869
Natural variant4011R → W. Ref.4
Corresponds to variant rs9790 [ dbSNP | Ensembl ].
VAR_050870

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified June 13, 2006. Version 4.
Checksum: 7A23D4FA2EBE5A9F

FASTA41348,125
        10         20         30         40         50         60 
MSFRDLRNFT EMMRALGYPR HISMENFRTP NFGLVSEVLL WLVKRYEPQT DIPPDVDTEQ 

        70         80         90        100        110        120 
DRVFFIKAIA QFMATKAHIK LNTKKLYQAD GYAVKELLKI TSVLYNAMKT KGMEGSEIVE 

       130        140        150        160        170        180 
EDVNKFKFDL GSKIADLKAA RQLASEITSK GASLYDLLGM EVELREMRTE AIARPLEINE 

       190        200        210        220        230        240 
TEKVMRIAIK EILTQVQKTK DLLNNVASDE ANLEAKIEKR KLELERNRKR LETLQSVRPC 

       250        260        270        280        290        300 
FMDEYEKTEE ELQKQYDTYL EKFQNLTYLE QQLEDHHRME QERFEEAKNT LCLIQNKLKE 

       310        320        330        340        350        360 
EEKRLLKSGS NDDSDIDIQE DDESDSELEE RRLPKPQTAM EMLMQGRPGK RIVGTMQGGD 

       370        380        390        400        410 
SDDNEDSEES EIDMEDDDDE DDDLEDESIS LSPTKPNRRV RKSEPLDESD NDF 

« Hide

Isoform 2 [UniParc].

Checksum: 04DEC4E12F4D36F3
Show »

FASTA24729,093

References

« Hide 'large scale' references
[1]"Isolation and characterization of a novel gene CLUAP1 whose expression is frequently upregulated in colon cancer."
Takahashi M., Lin Y.-M., Nakamura Y., Furukawa Y.
Oncogene 23:9289-9294(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), INTERACTION WITH CLU, TISSUE SPECIFICITY, SUBCELLULAR LOCATION.
Tissue: Colon tumor.
[2]"Prediction of the coding sequences of unidentified human genes. X. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro."
Ishikawa K., Nagase T., Suyama M., Miyajima N., Tanaka A., Kotani H., Nomura N., Ohara O.
DNA Res. 5:169-176(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
Tissue: Brain.
[3]"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] (ISOFORM 2), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 222-413 (ISOFORMS 1/2).
Tissue: Ovary.
[4]"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 1), VARIANT TRP-401.
Tissue: Skin.
[5]"Human cilia proteome contains homolog of zebrafish polycystic kidney disease gene qilin."
Marshall W.F.
Curr. Biol. 14:R913-R914(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION, SUBCELLULAR LOCATION.
[6]"Identification of CLUAP1 as a human osteosarcoma tumor-associated antigen recognized by the humoral immune system."
Ishikura H., Ikeda H., Abe H., Ohkuri T., Hiraga H., Isu K., Tsukahara T., Sato N., Kitamura H., Iwasaki N., Takeda N., Minami A., Nishimura T.
Int. J. Oncol. 30:461-467(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: TISSUE SPECIFICITY.
[7]"Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach."
Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S.
Anal. Chem. 81:4493-4501(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[8]"Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."
Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K.
Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-409, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Leukemic T-cell.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AB089691 mRNA. Translation: BAD44779.1.
AB014543 mRNA. Translation: BAA31618.1. Sequence problems.
AK023319 mRNA. Translation: BAB14523.1. Different initiation.
AK023359 mRNA. Translation: BAB14542.1.
BC017070 mRNA. Translation: AAH17070.3.
RefSeqNP_055856.1. NM_015041.2.
NP_079069.1. NM_024793.2.
UniGeneHs.155995.

3D structure databases

ProteinModelPortalQ96AJ1.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid116694. 6 interactions.
IntActQ96AJ1. 2 interactions.
STRING9606.ENSP00000344392.

PTM databases

PhosphoSiteQ96AJ1.

Polymorphism databases

DMDM108935970.

Proteomic databases

PaxDbQ96AJ1.
PRIDEQ96AJ1.

Protocols and materials databases

DNASU23059.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000417763; ENSP00000388642; ENSG00000103351. [Q96AJ1-2]
ENST00000572600; ENSP00000460889; ENSG00000103351. [Q96AJ1-2]
ENST00000576634; ENSP00000460850; ENSG00000103351. [Q96AJ1-1]
GeneID23059.
KEGGhsa:23059.
UCSCuc002cvk.2. human. [Q96AJ1-1]

Organism-specific databases

CTD23059.
GeneCardsGC16P003550.
HGNCHGNC:19009. CLUAP1.
HPAHPA036976.
HPA044191.
neXtProtNX_Q96AJ1.
PharmGKBPA128394600.
HUGESearch...
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG330295.
HOGENOMHOG000257815.
HOVERGENHBG081253.
InParanoidQ96AJ1.
OrthoDBEOG7XDBG7.
PhylomeDBQ96AJ1.
TreeFamTF314639.

Gene expression databases

ArrayExpressQ96AJ1.
BgeeQ96AJ1.
CleanExHS_CLUAP1.
GenevestigatorQ96AJ1.

Family and domain databases

InterProIPR019366. Clusterin-associated_protein-1.
[Graphical view]
PANTHERPTHR21547. PTHR21547. 1 hit.
PfamPF10234. Cluap1. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiCLUAP1.
GenomeRNAi23059.
NextBio44121.
PROQ96AJ1.

Entry information

Entry nameCLUA1_HUMAN
AccessionPrimary (citable) accession number: Q96AJ1
Secondary accession number(s): O75138 expand/collapse secondary AC list , Q65ZA3, Q9H8R4, Q9H8T1
Entry history
Integrated into UniProtKB/Swiss-Prot: June 13, 2006
Last sequence update: June 13, 2006
Last modified: April 16, 2014
This is version 90 of the entry and version 4 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

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 16

Human chromosome 16: entries, gene names and cross-references to MIM