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Protein

Clavesin-1

Gene

CLVS1

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

Functioni

Required for normal morphology of late endosomes and/or lysosomes in neurons (By similarity). Binds phosphatidylinositol 3,5-bisphosphate (PtdIns(3,5)P2).By similarity1 Publication

GO - Molecular functioni

  • lipid binding Source: UniProtKB-KW
  • phosphatidylinositol-3,5-bisphosphate binding Source: UniProtKB
  • transporter activity Source: InterPro

GO - Biological processi

Complete GO annotation...

Keywords - Ligandi

Lipid-binding

Enzyme and pathway databases

ReactomeiR-HSA-432720. Lysosome Vesicle Biogenesis.

Chemistry databases

SwissLipidsiSLP:000001544.

Names & Taxonomyi

Protein namesi
Recommended name:
Clavesin-1
Alternative name(s):
Cellular retinaldehyde-binding protein-like
Retinaldehyde-binding protein 1-like 1
clathrin vesicle-associated Sec14 protein 11 Publication
Gene namesi
Name:CLVS1
Synonyms:CRALBPL, RLBP1L1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 8

Organism-specific databases

HGNCiHGNC:23139. CLVS1.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cytoplasmic vesicle, Endosome, Golgi apparatus, Membrane

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi83 – 85RKF → AAA: Abolishes binding to PtdIns(3,5)P2. No effect on subcellular location. 1 Publication3

Organism-specific databases

DisGeNETi157807.
OpenTargetsiENSG00000177182.
PharmGKBiPA165585423.

Polymorphism and mutation databases

BioMutaiCLVS1.
DMDMi74727971.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002976551 – 354Clavesin-1Add BLAST354

Proteomic databases

PaxDbiQ8IUQ0.
PeptideAtlasiQ8IUQ0.
PRIDEiQ8IUQ0.

PTM databases

iPTMnetiQ8IUQ0.
PhosphoSitePlusiQ8IUQ0.

Expressioni

Tissue specificityi

Expressed mainly in the brain.1 Publication

Gene expression databases

BgeeiENSG00000177182.
CleanExiHS_RLBP1L1.
ExpressionAtlasiQ8IUQ0. baseline and differential.
GenevisibleiQ8IUQ0. HS.

Organism-specific databases

HPAiHPA053869.

Interactioni

Subunit structurei

Forms a complex with clathrin heavy chain and gamma-adaptin.1 Publication

Protein-protein interaction databases

IntActiQ8IUQ0. 1 interactor.
STRINGi9606.ENSP00000325506.

Structurei

3D structure databases

ProteinModelPortaliQ8IUQ0.
SMRiQ8IUQ0.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini118 – 279CRAL-TRIOPROSITE-ProRule annotationAdd BLAST162

Domaini

The CRAL-TRIO domain is required for targeting to the membrane and for binding PtdIns(3,5)P2.1 Publication

Sequence similaritiesi

Contains 1 CRAL-TRIO domain.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiKOG1471. Eukaryota.
ENOG410XRSQ. LUCA.
GeneTreeiENSGT00550000074253.
HOGENOMiHOG000059544.
HOVERGENiHBG101105.
InParanoidiQ8IUQ0.
OMAiWKGDLAK.
OrthoDBiEOG091G0KN0.
PhylomeDBiQ8IUQ0.

Family and domain databases

Gene3Di3.40.525.10. 1 hit.
InterProiIPR028634. Clavesin-1.
IPR001071. CRAL-bd_toc_tran.
IPR001251. CRAL-TRIO_dom.
IPR011074. CRAL/TRIO_N_dom.
[Graphical view]
PANTHERiPTHR10174:SF72. PTHR10174:SF72. 1 hit.
PfamiPF00650. CRAL_TRIO. 1 hit.
PF03765. CRAL_TRIO_N. 1 hit.
[Graphical view]
PRINTSiPR00180. CRETINALDHBP.
SMARTiSM01100. CRAL_TRIO_N. 1 hit.
SM00516. SEC14. 1 hit.
[Graphical view]
SUPFAMiSSF46938. SSF46938. 1 hit.
SSF52087. SSF52087. 1 hit.
PROSITEiPS50191. CRAL_TRIO. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q8IUQ0-1) [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
MGPVSLLPKY QKLNTWNGDL AKMTHLQAGL SPETIEKARL ELNENPDVLH
60 70 80 90 100
QDIQQVRDMI ITRPDIGFLR TDDAFILRFL RARKFHQADA FRLLAQYFQY
110 120 130 140 150
RQLNLDMFKN FKADDPGIKR ALIDGFPGVL ENRDHYGRKI LLLFAANWDQ
160 170 180 190 200
SRNSFTDILR AILLSLEVLI EDPELQINGF ILIIDWSNFS FKQASKLTPS
210 220 230 240 250
ILKLAIEGLQ DSFPARFGGV HFVNQPWYIH ALYTLIKPFL KDKTRKRIFL
260 270 280 290 300
HGNNLNSLHQ LIHPEFLPSE FGGTLPPYDM GTWARTLLGP DYSDENDYTH
310 320 330 340 350
TSYNAMHVKH TSSNLERECS PKLMKRSQSV VEAGTLKHEE KGENENTQPL

LALD
Length:354
Mass (Da):40,788
Last modified:March 1, 2003 - v1
Checksum:i8C310619C24AA736
GO
Isoform 2 (identifier: Q8IUQ0-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     151-167: SRNSFTDILRAILLSLE → RTPSQTSFVPSCCHWKS
     168-354: Missing.

Note: No experimental confirmation available. May be due to an intron retention.
Show »
Length:167
Mass (Da):19,460
Checksum:i3F945FF4E92F2F1E
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti303Y → H in BAG35872 (PubMed:14702039).Curated1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_027328151 – 167SRNSF…LLSLE → RTPSQTSFVPSCCHWKS in isoform 2. 1 PublicationAdd BLAST17
Alternative sequenceiVSP_027329168 – 354Missing in isoform 2. 1 PublicationAdd BLAST187

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY094971 mRNA. Translation: AAM15733.1.
AF445194 mRNA. Translation: AAP97323.1.
AK091641 mRNA. No translation available.
AK313040 mRNA. Translation: BAG35872.1.
CH471068 Genomic DNA. Translation: EAW86838.1.
BC042617 mRNA. Translation: AAH42617.1.
BK006899 mRNA. Translation: DAA06536.1.
CCDSiCCDS6176.1. [Q8IUQ0-1]
RefSeqiNP_775790.1. NM_173519.2. [Q8IUQ0-1]
XP_016868630.1. XM_017013141.1. [Q8IUQ0-1]
XP_016868631.1. XM_017013142.1. [Q8IUQ0-1]
UniGeneiHs.591874.

Genome annotation databases

EnsembliENST00000325897; ENSP00000325506; ENSG00000177182. [Q8IUQ0-1]
ENST00000519846; ENSP00000428402; ENSG00000177182. [Q8IUQ0-1]
GeneIDi157807.
KEGGihsa:157807.
UCSCiuc003xuh.4. human. [Q8IUQ0-1]

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY094971 mRNA. Translation: AAM15733.1.
AF445194 mRNA. Translation: AAP97323.1.
AK091641 mRNA. No translation available.
AK313040 mRNA. Translation: BAG35872.1.
CH471068 Genomic DNA. Translation: EAW86838.1.
BC042617 mRNA. Translation: AAH42617.1.
BK006899 mRNA. Translation: DAA06536.1.
CCDSiCCDS6176.1. [Q8IUQ0-1]
RefSeqiNP_775790.1. NM_173519.2. [Q8IUQ0-1]
XP_016868630.1. XM_017013141.1. [Q8IUQ0-1]
XP_016868631.1. XM_017013142.1. [Q8IUQ0-1]
UniGeneiHs.591874.

3D structure databases

ProteinModelPortaliQ8IUQ0.
SMRiQ8IUQ0.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

IntActiQ8IUQ0. 1 interactor.
STRINGi9606.ENSP00000325506.

Chemistry databases

SwissLipidsiSLP:000001544.

PTM databases

iPTMnetiQ8IUQ0.
PhosphoSitePlusiQ8IUQ0.

Polymorphism and mutation databases

BioMutaiCLVS1.
DMDMi74727971.

Proteomic databases

PaxDbiQ8IUQ0.
PeptideAtlasiQ8IUQ0.
PRIDEiQ8IUQ0.

Protocols and materials databases

DNASUi157807.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000325897; ENSP00000325506; ENSG00000177182. [Q8IUQ0-1]
ENST00000519846; ENSP00000428402; ENSG00000177182. [Q8IUQ0-1]
GeneIDi157807.
KEGGihsa:157807.
UCSCiuc003xuh.4. human. [Q8IUQ0-1]

Organism-specific databases

CTDi157807.
DisGeNETi157807.
GeneCardsiCLVS1.
HGNCiHGNC:23139. CLVS1.
HPAiHPA053869.
MIMi611292. gene.
neXtProtiNX_Q8IUQ0.
OpenTargetsiENSG00000177182.
PharmGKBiPA165585423.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1471. Eukaryota.
ENOG410XRSQ. LUCA.
GeneTreeiENSGT00550000074253.
HOGENOMiHOG000059544.
HOVERGENiHBG101105.
InParanoidiQ8IUQ0.
OMAiWKGDLAK.
OrthoDBiEOG091G0KN0.
PhylomeDBiQ8IUQ0.

Enzyme and pathway databases

ReactomeiR-HSA-432720. Lysosome Vesicle Biogenesis.

Miscellaneous databases

GenomeRNAii157807.
PROiQ8IUQ0.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000177182.
CleanExiHS_RLBP1L1.
ExpressionAtlasiQ8IUQ0. baseline and differential.
GenevisibleiQ8IUQ0. HS.

Family and domain databases

Gene3Di3.40.525.10. 1 hit.
InterProiIPR028634. Clavesin-1.
IPR001071. CRAL-bd_toc_tran.
IPR001251. CRAL-TRIO_dom.
IPR011074. CRAL/TRIO_N_dom.
[Graphical view]
PANTHERiPTHR10174:SF72. PTHR10174:SF72. 1 hit.
PfamiPF00650. CRAL_TRIO. 1 hit.
PF03765. CRAL_TRIO_N. 1 hit.
[Graphical view]
PRINTSiPR00180. CRETINALDHBP.
SMARTiSM01100. CRAL_TRIO_N. 1 hit.
SM00516. SEC14. 1 hit.
[Graphical view]
SUPFAMiSSF46938. SSF46938. 1 hit.
SSF52087. SSF52087. 1 hit.
PROSITEiPS50191. CRAL_TRIO. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiCLVS1_HUMAN
AccessioniPrimary (citable) accession number: Q8IUQ0
Secondary accession number(s): B2R7M5, C8UZT3, Q8NB32
Entry historyi
Integrated into UniProtKB/Swiss-Prot: August 21, 2007
Last sequence update: March 1, 2003
Last modified: November 2, 2016
This is version 112 of the entry and version 1 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

Miscellaneous

Binding to PtdIns(3,5)P2 is not required for localization.

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 8
    Human chromosome 8: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. 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.