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Q5SYC1 (CLVS2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified March 19, 2014. Version 82. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (2) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Clavesin-2
Alternative name(s):
Retinaldehyde-binding protein 1-like 2
Gene names
Name:CLVS2
Synonyms:C6orf212, C6orf213, RLBP1L2
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length327 AA.
Sequence statusComplete.
Protein existenceEvidence 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 apparatustrans-Golgi network membrane; Peripheral membrane protein By similarity. Cytoplasmic vesicleclathrin-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.

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 keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 327327Clavesin-2
PRO_0000297651

Regions

Domain96 – 257162CRAL-TRIO

Natural variations

Alternative sequence1 – 146146Missing in isoform 2.
VSP_027325

Sequences

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

Last modified December 21, 2004. Version 1.
Checksum: FF40A5A222A4DB1C

FASTA32738,000
        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 

« Hide

Isoform 2 [UniParc].

Checksum: 6C482FB6B59FB9C8
Show »

FASTA18121,025

References

« Hide '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. 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 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. expand/collapse author list , 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. 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 (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.
RefSeqNP_001010852.2. NM_001010852.3.
UniGeneHs.486361.
Hs.486362.

3D structure databases

ProteinModelPortalQ5SYC1.
SMRQ5SYC1. Positions 11-266.
ModBaseSearch...
MobiDBSearch...

PTM databases

PhosphoSiteQ5SYC1.

Polymorphism databases

DMDM74744054.

Proteomic databases

PaxDbQ5SYC1.
PRIDEQ5SYC1.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000275162; ENSP00000275162; ENSG00000146352. [Q5SYC1-1]
ENST00000368438; ENSP00000357423; ENSG00000146352. [Q5SYC1-2]
GeneID134829.
KEGGhsa:134829.
UCSCuc003pzi.1. human. [Q5SYC1-1]

Organism-specific databases

CTD134829.
GeneCardsGC06P123360.
HGNCHGNC:23046. CLVS2.
HPAHPA043764.
neXtProtNX_Q5SYC1.
PharmGKBPA165617885.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG295803.
HOGENOMHOG000059544.
HOVERGENHBG101105.
InParanoidQ5SYC1.
OMAKRIFMHG.
OrthoDBEOG7H4DTZ.
PhylomeDBQ5SYC1.

Gene expression databases

BgeeQ5SYC1.
CleanExHS_RLBP1L2.
GenevestigatorQ5SYC1.

Family and domain databases

Gene3D3.40.525.10. 1 hit.
InterProIPR028636. Clavesin-2.
IPR001071. CRAL-bd_toc_tran.
IPR001251. CRAL-TRIO_dom.
IPR011074. CRAL/TRIO_N_dom.
[Graphical view]
PANTHERPTHR10174:SF73. PTHR10174:SF73. 1 hit.
PfamPF00650. CRAL_TRIO. 1 hit.
PF03765. CRAL_TRIO_N. 1 hit.
[Graphical view]
PRINTSPR00180. CRETINALDHBP.
SMARTSM01100. CRAL_TRIO_N. 1 hit.
SM00516. SEC14. 1 hit.
[Graphical view]
SUPFAMSSF46938. SSF46938. 1 hit.
SSF52087. SSF52087. 1 hit.
PROSITEPS50191. CRAL_TRIO. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi134829.
NextBio83427.
PROQ5SYC1.

Entry information

Entry nameCLVS2_HUMAN
AccessionPrimary (citable) accession number: Q5SYC1
Secondary accession number(s): B3KTG5 expand/collapse secondary AC list , B4DHL0, C8UZT4, Q5SYC0
Entry history
Integrated into UniProtKB/Swiss-Prot: August 21, 2007
Last sequence update: December 21, 2004
Last modified: March 19, 2014
This is version 82 of the entry and version 1 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 chromosome 6

Human chromosome 6: entries, gene names and cross-references to MIM