Q5SYC1 (CLVS2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Clavesin-2

Alternative name(s):
Retinaldehyde-binding protein 1-like 2

Gene names

Name:	CLVS2
Synonyms:	C6orf212, C6orf213, RLBP1L2

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	327 AA.
Sequence status	Complete.
Protein existence	Evidence at transcript level

General annotation (Comments)

Function	Required for normal morphology of late endosomes and/or lysosomes in neurons By similarity. Binds phosphatidylinositol 3,5-bisphosphate (PtdIns(3,5)P2). Ref.5
Subunit structure	Forms a complex with clathrin heavy chain and gamma-adaptin. Ref.5
Subcellular location	Golgi apparatus › trans-Golgi network membrane; Peripheral membrane protein By similarity. Cytoplasmic vesicle › clathrin-coated vesicle By similarity. Early endosome membrane; Peripheral membrane protein Ref.5.
Domain	The CRAL-TRIO domain is required for targeting to the membrane and for binding PtdIns(3,5)P2. Ref.5
Miscellaneous	Binding to PtdIns(3,5)P2 is not required for localization By similarity.
Sequence similarities	Contains 1 CRAL-TRIO domain.

Ontologies

Keywords
Cellular component	Cytoplasmic vesicle Endosome Golgi apparatus Membrane
Coding sequence diversity	Alternative splicing
Ligand	Lipid-binding
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	lysosome organization Inferred from sequence or structural similarity. Source: UniProtKB
Cellular_component	Golgi apparatus Inferred from electronic annotation. Source: UniProtKB-SubCell clathrin-coated vesicle Inferred from sequence or structural similarity. Source: UniProtKB early endosome membrane Inferred from electronic annotation. Source: UniProtKB-SubCell endosome Inferred from direct assay Ref.5. Source: UniProtKB trans-Golgi network Inferred from sequence or structural similarity. Source: UniProtKB
Molecular_function	phosphatidylinositol-3,5-bisphosphate binding Inferred from direct assay Ref.5. Source: UniProtKB transporter activity Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q5SYC1-1)

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: Q5SYC1-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-146: Missing.

Note: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 327	327	Clavesin-2		PRO_0000297651
Regions
	Domain	96 – 257	162	CRAL-TRIO
Natural variations
	Alternative sequence	1 – 146	146	Missing in isoform 2.		VSP_027325

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified December 21, 2004. Version 1. Checksum: FF40A5A222A4DB1C	FASTA	327	38,000
	10 20 30 40 50 60 MTHLQAGLSP ETLEKARLEL NENPDTLHQD IQEVRDMVIT RPDIGFLRTD DAFILRFLRA 70 80 90 100 110 120 RKFHHFEAFR LLAQYFEYRQ QNLDMFKSFK ATDPGIKQAL KDGFPGGLAN LDHYGRKILV 130 140 150 160 170 180 LFAANWDQSR YTLVDILRAI LLSLEAMIED PELQVNGFVL IIDWSNFTFK QASKLTPSML 190 200 210 220 230 240 RLAIEGLQDS FPARFGGIHF VNQPWYIHAL YTVIRPFLKE KTRKRIFLHG NNLNSLHQLI 250 260 270 280 290 300 HPEILPSEFG GMLPPYDMGT WARTLLDHEY DDDSEYNVDS YSMPVKEVEK ELSPKSMKRS 310 320 QSVVDPTVLK RMDKNEEENM QPLLSLD
	Isoform 2 [UniParc]. Checksum: 6C482FB6B59FB9C8	FASTA	181	21,025
	10 20 30 40 50 60 MIEDPELQVN GFVLIIDWSN FTFKQASKLT PSMLRLAIEG LQDSFPARFG GIHFVNQPWY 70 80 90 100 110 120 IHALYTVIRP FLKEKTRKRI FLHGNNLNSL HQLIHPEILP SEFGGMLPPY DMGTWARTLL 130 140 150 160 170 180 DHEYDDDSEY NVDSYSMPVK EVEKELSPKS MKRSQSVVDP TVLKRMDKNE EENMQPLLSL D

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"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] (ISOFORMS 1 AND 2). Tissue: Brain.
[2]	"The DNA sequence and analysis of human chromosome 6." Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L., Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R., Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D., Andrews T.D. , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H., Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V., Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J., Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E., Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J., French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J., Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C., Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A., Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R., Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M., Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R., Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A., Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L., Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I., Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y., Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E., Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A., Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W., Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J., Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M., Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I., Rogers J., Beck S. Nature 425:805-811(2003) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]	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. , 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 (SEP-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[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).
[5]	"The clavesin family: neuron-specific lipid- and clathrin-binding Sec14 proteins regulating lysosomal morphology." Katoh Y., Ritter B., Gaffry T., Blondeau F., Honing S., McPherson P.S. J. Biol. Chem. 284:27646-27654(2009) [PubMed] [Europe PMC] [Abstract] Cited for: FUNCTION, IDENTIFICATION IN COMPLEX WITH CLATHRIN HEAVY CHAIN AND GAMMA-ADAPTIN, SUBCELLULAR LOCATION, DOMAIN.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AK095527 mRNA. Translation: BAG53077.1. AK295158 mRNA. Translation: BAG58172.1. AL591428 Genomic DNA. Translation: CAI12306.1. AL591428 Genomic DNA. Translation: CAI12307.1. CH471051 Genomic DNA. Translation: EAW48161.1. BC101376 mRNA. Translation: AAI01377.1. BC101377 mRNA. Translation: AAI01378.1. DC324799 mRNA. No translation available. BK006900 mRNA. Translation: DAA06537.1.
IPI	IPI00646147. IPI00646640.
RefSeq	NP_001010852.2. NM_001010852.2.
UniGene	Hs.486361.
3D structure databases
HSSP	HSSP built from PDB template 1R5L based on UniProtKB P49638.
ProteinModelPortal	Q5SYC1.
ModBase	Search...
PTM databases
PhosphoSite	Q5SYC1.
Polymorphism databases
DMDM	74744054.
Proteomic databases
PaxDb	Q5SYC1.
PRIDE	Q5SYC1.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000275162; ENSP00000275162; ENSG00000146352. ENST00000368438; ENSP00000357423; ENSG00000146352.
GeneID	134829.
KEGG	hsa:134829.
UCSC	uc003pzi.1. human.
Organism-specific databases
CTD	134829.
GeneCards	GC06P123360.
HGNC	HGNC:23046. CLVS2.
HPA	HPA043764.
neXtProt	NX_Q5SYC1.
PharmGKB	PA165617885.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG295803.
HOGENOM	HOG000059544.
HOVERGEN	HBG101105.
InParanoid	Q5SYC1.
OMA	NHFEAFR.
OrthoDB	EOG4RXZ0J.
PhylomeDB	Q5SYC1.
Gene expression databases
Bgee	Q5SYC1.
CleanEx	HS_RLBP1L2.
Genevestigator	Q5SYC1.
Family and domain databases
Gene3D	3.40.525.10. 1 hit.
InterPro	IPR001071. CRAL-bd_toc_tran. IPR001251. CRAL-TRIO_dom. IPR011074. CRAL/TRIO_N_dom. [Graphical view]
Pfam	PF00650. CRAL_TRIO. 1 hit. PF03765. CRAL_TRIO_N. 1 hit. [Graphical view]
PRINTS	PR00180. CRETINALDHBP.
SMART	SM01100. CRAL_TRIO_N. 1 hit. SM00516. SEC14. 1 hit. [Graphical view]
SUPFAM	SSF52087. CRAL_TRIO_C. 1 hit. SSF46938. Sec14p_like_N. 1 hit.
PROSITE	PS50191. CRAL_TRIO. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	134829.
NextBio	83427.

Entry information

Entry name

CLVS2_HUMAN

Accession

Primary (citable) accession number: Q5SYC1
Secondary accession number(s): B3KTG5 , B4DHL0, C8UZT4, Q5SYC0

Entry history

Integrated into UniProtKB/Swiss-Prot:	August 21, 2007
Last sequence update:	December 21, 2004
Last modified:	May 1, 2013
This is version 75 of the entry and version 1 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.