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Protein

Clavesin-1

Gene

CLVS1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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

Miscellaneous

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

GO - Molecular functioni

  • phosphatidylinositol-3,5-bisphosphate binding Source: UniProtKB

GO - Biological processi

Keywordsi

LigandLipid-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

EuPathDBiHostDB:ENSG00000177182.10
HGNCiHGNC:23139 CLVS1
MIMi611292 gene
neXtProtiNX_Q8IUQ0

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

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
ProteomicsDBi70591
70592 [Q8IUQ0-2]

PTM databases

iPTMnetiQ8IUQ0
PhosphoSitePlusiQ8IUQ0

Expressioni

Tissue specificityi

Expressed mainly in the brain.1 Publication

Gene expression databases

BgeeiENSG00000177182 Expressed in 70 organ(s), highest expression level in caudate nucleus
CleanExiHS_RLBP1L1
ExpressionAtlasiQ8IUQ0 baseline and differential
GenevisibleiQ8IUQ0 HS

Interactioni

Subunit structurei

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

Protein-protein interaction databases

IntActiQ8IUQ0, 2 interactors
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

Phylogenomic databases

eggNOGiKOG1471 Eukaryota
ENOG410XRSQ LUCA
GeneTreeiENSGT00550000074253
HOGENOMiHOG000059544
HOVERGENiHBG101105
InParanoidiQ8IUQ0
OMAiWKGDLAK
OrthoDBiEOG091G0KN0
PhylomeDBiQ8IUQ0

Family and domain databases

CDDicd00170 SEC14, 1 hit
Gene3Di3.40.525.10, 1 hit
InterProiView protein in InterPro
IPR028634 Clavesin-1
IPR001251 CRAL-TRIO_dom
IPR036865 CRAL-TRIO_dom_sf
IPR011074 CRAL/TRIO_N_dom
IPR036273 CRAL/TRIO_N_dom_sf
PANTHERiPTHR10174:SF72 PTHR10174:SF72, 1 hit
PfamiView protein in Pfam
PF00650 CRAL_TRIO, 1 hit
PF03765 CRAL_TRIO_N, 1 hit
SMARTiView protein in SMART
SM01100 CRAL_TRIO_N, 1 hit
SM00516 SEC14, 1 hit
SUPFAMiSSF46938 SSF46938, 1 hit
SSF52087 SSF52087, 1 hit
PROSITEiView protein in PROSITE
PS50191 CRAL_TRIO, 1 hit

Sequences (2+)i

Sequence statusi: Complete.

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

This entry has 2 described isoforms and 4 potential isoforms that are computationally mapped.Show allAlign All

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

Computationally mapped potential isoform sequencesi

There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
G3V122G3V122_HUMAN
Clavesin-1
CLVS1 MGC34646, hCG_1643170
75Annotation score:
E5RK22E5RK22_HUMAN
Clavesin-1
CLVS1
79Annotation score:
E5RI68E5RI68_HUMAN
Clavesin-1
CLVS1
59Annotation score:
A0A1D5RMS6A0A1D5RMS6_HUMAN
Clavesin-1
CLVS1
10Annotation score:

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

Similar proteinsi

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, 2 interactors
STRINGi9606.ENSP00000325506

Chemistry databases

SwissLipidsiSLP:000001544

PTM databases

iPTMnetiQ8IUQ0
PhosphoSitePlusiQ8IUQ0

Polymorphism and mutation databases

BioMutaiCLVS1
DMDMi74727971

Proteomic databases

PaxDbiQ8IUQ0
PeptideAtlasiQ8IUQ0
PRIDEiQ8IUQ0
ProteomicsDBi70591
70592 [Q8IUQ0-2]

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
EuPathDBiHostDB:ENSG00000177182.10
GeneCardsiCLVS1
HGNCiHGNC:23139 CLVS1
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

ChiTaRSiCLVS1 human
GenomeRNAii157807
PROiPR:Q8IUQ0
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000177182 Expressed in 70 organ(s), highest expression level in caudate nucleus
CleanExiHS_RLBP1L1
ExpressionAtlasiQ8IUQ0 baseline and differential
GenevisibleiQ8IUQ0 HS

Family and domain databases

CDDicd00170 SEC14, 1 hit
Gene3Di3.40.525.10, 1 hit
InterProiView protein in InterPro
IPR028634 Clavesin-1
IPR001251 CRAL-TRIO_dom
IPR036865 CRAL-TRIO_dom_sf
IPR011074 CRAL/TRIO_N_dom
IPR036273 CRAL/TRIO_N_dom_sf
PANTHERiPTHR10174:SF72 PTHR10174:SF72, 1 hit
PfamiView protein in Pfam
PF00650 CRAL_TRIO, 1 hit
PF03765 CRAL_TRIO_N, 1 hit
SMARTiView protein in SMART
SM01100 CRAL_TRIO_N, 1 hit
SM00516 SEC14, 1 hit
SUPFAMiSSF46938 SSF46938, 1 hit
SSF52087 SSF52087, 1 hit
PROSITEiView protein in PROSITE
PS50191 CRAL_TRIO, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiCLVS1_HUMAN
AccessioniPrimary (citable) accession number: Q8IUQ0
Secondary accession number(s): B2R7M5, C8UZT3, Q8NB32
Entry historyiIntegrated into UniProtKB/Swiss-Prot: August 21, 2007
Last sequence update: March 1, 2003
Last modified: November 7, 2018
This is version 125 of the entry and version 1 of the sequence. See 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

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  2. Human chromosome 8
    Human chromosome 8: entries, gene names and cross-references to MIM
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Main funding by: National Institutes of Health

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