Q96AJ1 (CLUA1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Clusterin-associated protein 1

Alternative name(s):
Qilin

Gene names

Name:	CLUAP1
Synonyms:	KIAA0643

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	413 AA.
Sequence status	Complete.
Protein existence	Evidence 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 projection › cilium 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 process	Cilium biogenesis/degradation
Cellular component	Cell projection Cilium Nucleus
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Coiled coil
PTM	Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Cellular_component	nucleus Inferred from electronic annotation. Source: UniProtKB-SubCell
Complete GO annotation...

Binary interactions

With	Entry	#Exp.	IntAct	Notes
MAGEA11	P43364	2	EBI-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 key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 413	413	Clusterin-associated protein 1		PRO_0000239451
Regions
	Coiled coil	198 – 291	94	Potential
	Compositional bias	360 – 386	27	Asp-rich
Amino acid modifications
	Modified residue	409	1	Phosphoserine Ref.7
Natural variations
	Alternative sequence	1 – 166	166	Missing in isoform 2.		VSP_019229
	Natural variant	68	1	A → S. Corresponds to variant rs34115694 [ dbSNP | Ensembl ].		VAR_050869
	Natural variant	401	1	R → W. Ref.4 Corresponds to variant rs9790 [ dbSNP | Ensembl ].		VAR_050870

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified June 13, 2006. Version 4. Checksum: 7A23D4FA2EBE5A9F	FASTA	413	48,125
	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
	Isoform 2 [UniParc]. Checksum: 04DEC4E12F4D36F3	FASTA	247	29,093
	10 20 30 40 50 60 MRTEAIARPL EINETEKVMR IAIKEILTQV QKTKDLLNNV ASDEANLEAK IEKRKLELER 70 80 90 100 110 120 NRKRLETLQS VRPCFMDEYE KTEEELQKQY DTYLEKFQNL TYLEQQLEDH HRMEQERFEE 130 140 150 160 170 180 AKNTLCLIQN KLKEEEKRLL KSGSNDDSDI DIQEDDESDS ELEERRLPKP QTAMEMLMQG 190 200 210 220 230 240 RPGKRIVGTM QGGDSDDNED SEESEIDMED DDDEDDDLED ESISLSPTKP NRRVRKSEPL DESDNDF

References

	« Hide 'large scale' referencesShow '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. , 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]	"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, MASS SPECTROMETRY. Tissue: Leukemic T-cell.
+	Additional computationally mapped references.

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.
IPI	IPI00152974. IPI00746358.
RefSeq	NP_055856.1. NM_015041.2. NP_079069.1. NM_024793.2.
UniGene	Hs.155995.
3D structure databases
ProteinModelPortal	Q96AJ1.
SMR	Q96AJ1. Positions 8-46.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q96AJ1. 2 interactions.
STRING	9606.ENSP00000344392.
PTM databases
PhosphoSite	Q96AJ1.
Polymorphism databases
DMDM	108935970.
Proteomic databases
PaxDb	Q96AJ1.
PRIDE	Q96AJ1.
Protocols and materials databases
DNASU	23059.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000417763; ENSP00000388642; ENSG00000103351. ENST00000572600; ENSP00000460889; ENSG00000103351. ENST00000576634; ENSP00000460850; ENSG00000103351.
GeneID	23059.
KEGG	hsa:23059.
UCSC	uc002cvj.1. human.
Organism-specific databases
CTD	23059.
GeneCards	GC16P003520.
HGNC	HGNC:19009. CLUAP1.
HPA	HPA036976.
neXtProt	NX_Q96AJ1.
PharmGKB	PA128394600.
HUGE	Search...
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG330295.
HOGENOM	HOG000257815.
HOVERGEN	HBG081253.
InParanoid	Q96AJ1.
OMA	DRIFFIK.
OrthoDB	EOG4DNF4V.
Gene expression databases
ArrayExpress	Q96AJ1.
Bgee	Q96AJ1.
CleanEx	HS_CLUAP1.
Genevestigator	Q96AJ1.
GermOnline	ENSG00000103351. Homo sapiens.
Family and domain databases
InterPro	IPR019366. Clusterin-associated_protein-1. [Graphical view]
PANTHER	PTHR21547. PTHR21547. 1 hit.
Pfam	PF10234. Cluap1. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	23059.
NextBio	44121.

Entry information

Entry name

CLUA1_HUMAN

Accession

Primary (citable) accession number: Q96AJ1
Secondary accession number(s): O75138 , Q65ZA3, Q9H8R4, Q9H8T1

Entry history

Integrated into UniProtKB/Swiss-Prot:	June 13, 2006
Last sequence update:	June 13, 2006
Last modified:	May 1, 2013
This is version 81 of the entry and version 4 of the sequence. [Complete 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.