UniProtKB - Q8IUQ0 (CLVS1_HUMAN)

BLAST

>sp|Q8IUQ0|CLVS1_HUMAN Clavesin-1 OS=Homo sapiens OX=9606 GN=CLVS1 PE=1 SV=1
MGPVSLLPKYQKLNTWNGDLAKMTHLQAGLSPETIEKARLELNENPDVLHQDIQQVRDMI
ITRPDIGFLRTDDAFILRFLRARKFHQADAFRLLAQYFQYRQLNLDMFKNFKADDPGIKR
ALIDGFPGVLENRDHYGRKILLLFAANWDQSRNSFTDILRAILLSLEVLIEDPELQINGF
ILIIDWSNFSFKQASKLTPSILKLAIEGLQDSFPARFGGVHFVNQPWYIHALYTLIKPFL
KDKTRKRIFLHGNNLNSLHQLIHPEFLPSEFGGTLPPYDMGTWARTLLGPDYSDENDYTH
TSYNAMHVKHTSSNLERECSPKLMKRSQSVVEAGTLKHEEKGENENTQPLLALD

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History
Entry version 125 (07 Nov 2018)
Sequence version 1 (01 Mar 2003)
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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
Inferred from direct assayⁱ
- 19651769

View the complete GO annotation on QuickGO ...

GO - Biological processⁱ

lysosome organization Source: UniProtKB

View the complete GO annotation on QuickGO ...

Keywordsⁱ

Ligand	Lipid-binding

Ligand

Lipid-binding

Enzyme and pathway databases

Reactomeⁱ	R-HSA-432720 Lysosome Vesicle Biogenesis

Reactomeⁱ

R-HSA-432720 Lysosome Vesicle Biogenesis

Chemistry databases

SwissLipidsⁱ	SLP:000001544

SwissLipidsⁱ

SLP: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
Organismⁱ	Homo sapiens (Human)
Taxonomic identifierⁱ	9606 [NCBI]
Taxonomic lineageⁱ	cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Dipnotetrapodomorpha › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Boreoeutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo
Proteomesⁱ	UP000005640 Componentⁱ: Chromosome 8

Organism-specific databases

EuPathDBⁱ	HostDB:ENSG00000177182.10
Human Gene Nomenclature Database More...HGNCⁱ	HGNC:23139 CLVS1
MIMⁱ	611292 gene
neXtProtⁱ	NX_Q8IUQ0

Keywords - Cellular componentⁱ

Cytoplasmic vesicle, Endosome, Golgi apparatus, Membrane

Pathology & Biotechⁱ

Mutagenesis

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Mutagenesisⁱ	83 – 85	RKF → AAA: Abolishes binding to PtdIns(3,5)P2. No effect on subcellular location. 1 Publication		3

Organism-specific databases

DisGeNET More...DisGeNETⁱ	157807
Open Targets More...OpenTargetsⁱ	ENSG00000177182
PharmGKBⁱ	PA165585423

Polymorphism and mutation databases

BioMutaⁱ	CLVS1
DMDMⁱ	74727971

PTM / Processingⁱ

Molecule processing

Feature key	Position(s)	DescriptionActions	Graphical view	Length
ChainⁱPRO_0000297655	1 – 354	Clavesin-1Add BLAST		354

Proteomic databases

PaxDbⁱ	Q8IUQ0
PeptideAtlas More...PeptideAtlasⁱ	Q8IUQ0
PRIDEⁱ	Q8IUQ0
ProteomicsDBⁱ	70591 70592 [Q8IUQ0-2]

PTM databases

iPTMnetⁱ	Q8IUQ0
PhosphoSitePlusⁱ	Q8IUQ0

Expressionⁱ

Tissue specificityⁱ

Expressed mainly in the brain.1 Publication

Gene expression databases

Bgeeⁱ	ENSG00000177182 Expressed in 70 organ(s), highest expression level in caudate nucleus
CleanExⁱ	HS_RLBP1L1
ExpressionAtlasⁱ	Q8IUQ0 baseline and differential
Genevisibleⁱ	Q8IUQ0 HS

Interactionⁱ

Subunit structureⁱ

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

Protein-protein interaction databases

IntActⁱ	Q8IUQ0, 2 interactors
STRINGⁱ	9606.ENSP00000325506

Structureⁱ

3D structure databases

ProteinModelPortalⁱ	Q8IUQ0
SMRⁱ	Q8IUQ0
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Family & Domainsⁱ

Domains and Repeats

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Domainⁱ	118 – 279	CRAL-TRIOPROSITE-ProRule annotationAdd BLAST		162

Domainⁱ

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

Phylogenomic databases

eggNOGⁱ	KOG1471 Eukaryota ENOG410XRSQ LUCA
Ensembl GeneTree More...GeneTreeⁱ	ENSGT00550000074253
HOGENOMⁱ	HOG000059544
HOVERGENⁱ	HBG101105
InParanoidⁱ	Q8IUQ0
OMAⁱ	WKGDLAK
Database of Orthologous Groups More...OrthoDBⁱ	EOG091G0KN0
PhylomeDBⁱ	Q8IUQ0

Family and domain databases

Conserved Domains Database More...CDDⁱ	cd00170 SEC14, 1 hit
Gene3Dⁱ	3.40.525.10, 1 hit
InterProⁱ	View 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
PANTHERⁱ	PTHR10174:SF72 PTHR10174:SF72, 1 hit
Pfam protein domain database More...Pfamⁱ	View protein in Pfam PF00650 CRAL_TRIO, 1 hit PF03765 CRAL_TRIO_N, 1 hit
SMARTⁱ	View protein in SMART SM01100 CRAL_TRIO_N, 1 hit SM00516 SEC14, 1 hit
SUPFAMⁱ	SSF46938 SSF46938, 1 hit SSF52087 SSF52087, 1 hit
PROSITEⁱ	View protein in PROSITE PS50191 CRAL_TRIO, 1 hit

Sequences (2+)ⁱ

Sequence statusⁱ: Complete.

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

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

Isoform 1 (identifier: Q8IUQ0-1) [UniParc]FASTA Add 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

Isoform 2 (identifier: Q8IUQ0-2) [UniParc]FASTA Add to basket

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

« 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 
RTPSQTSFVP SCCHWKS

Note: No experimental confirmation available. May be due to an intron retention.

Show »

Length:167

Mass (Da):19,460

Checksum:ⁱ3F945FF4E92F2F1E

Computationally mapped potential isoform sequencesⁱ

There are 4 potential isoforms mapped to this entry.BLAST Align Show all Add to basket

Entry	Entry name	Protein names	Gene names	Length	Annotation

G3V122	G3V122_HUMAN	Clavesin-1 Clavesin-1	CLVS1 MGC34646, hCG_1643170	75	Annotation score:
E5RK22	E5RK22_HUMAN	Clavesin-1 Clavesin-1	CLVS1	79	Annotation score:
E5RI68	E5RI68_HUMAN	Clavesin-1 Clavesin-1	CLVS1	59	Annotation score:
A0A1D5RMS6	A0A1D5RMS6_HUMAN	Clavesin-1 Clavesin-1	CLVS1	10	Annotation score:

Experimental Info

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Sequence conflictⁱ	303	Y → H in BAG35872 (PubMed:14702039).Curated		1

Alternative sequence

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Alternative sequenceⁱVSP_027328	151 – 167	SRNSF…LLSLE → RTPSQTSFVPSCCHWKS in isoform 2. 1 PublicationAdd BLAST		17
Alternative sequenceⁱVSP_027329	168 – 354	Missing in isoform 2. 1 PublicationAdd BLAST		187

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
The Consensus CDS (CCDS) project More...CCDSⁱ	CCDS6176.1 [Q8IUQ0-1]
NCBI Reference Sequences More...RefSeqⁱ	NP_775790.1, NM_173519.2 [Q8IUQ0-1] XP_016868630.1, XM_017013141.1 [Q8IUQ0-1] XP_016868631.1, XM_017013142.1 [Q8IUQ0-1]
UniGeneⁱ	Hs.591874

Genome annotation databases

Ensemblⁱ	ENST00000325897; ENSP00000325506; ENSG00000177182 [Q8IUQ0-1] ENST00000519846; ENSP00000428402; ENSG00000177182 [Q8IUQ0-1]
GeneIDⁱ	157807
KEGGⁱ	hsa:157807
UCSC genome browser More...UCSCⁱ	uc003xuh.4 human [Q8IUQ0-1]

Keywords - Coding sequence diversityⁱ

Alternative splicing

Similar proteinsⁱ

100% Identity
90% Identity
50% Identity

Protein	Similar proteins		Species	Score	Length	Source
Q8IUQ0	CLVS1 isoform 2		PANTR		354	UniRef100_Q8IUQ0
Uncharacterized protein		PANPA		354
Clavesin-1 (Fragment)		HUMAN		79
CLVS1 isoform 4		PONAB		75
CLVS1 isoform 1 (Fragment)		PANTR		79
+5

Protein	Similar proteins		Species	Score	Length	Source
Q8IUQ0	Clavesin-1		MOUSE		354	UniRef90_Q8IUQ0
Clavesin-1		PONAB		354
Clavesin-1		RAT		354
Clavesin-1		XENLA		332
CLVS1 isoform 2		PANTR		354
+193

Protein	Similar proteins		Species	Score	Length	Source
Q8IUQ0	Clavesin-1		MOUSE		354	UniRef50_Q8IUQ0
Clavesin-1		PONAB		354
Clavesin-1		RAT		354
Clavesin-1		XENLA		332
Clavesin-2		DANRE		329
+339
Q8IUQ0-2	Clavesin-2 (Fragment)		CARIC		196	UniRef50_Q8IUQ0-2
CLVS2		blackstripe livebearer		201
Clavesin 2 (Fragment)		NOTKU		166
Clavesin 2		PETMA		191
Uncharacterized protein		Cebus capucinus imitator		219
+8

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
CCDSⁱ	CCDS6176.1 [Q8IUQ0-1]
RefSeqⁱ	NP_775790.1, NM_173519.2 [Q8IUQ0-1] XP_016868630.1, XM_017013141.1 [Q8IUQ0-1] XP_016868631.1, XM_017013142.1 [Q8IUQ0-1]
UniGeneⁱ	Hs.591874

3D structure databases

ProteinModelPortalⁱ	Q8IUQ0
SMRⁱ	Q8IUQ0
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Protein-protein interaction databases

IntActⁱ	Q8IUQ0, 2 interactors
STRINGⁱ	9606.ENSP00000325506

Chemistry databases

SwissLipidsⁱ	SLP:000001544

SwissLipidsⁱ

SLP:000001544

PTM databases

iPTMnetⁱ	Q8IUQ0
PhosphoSitePlusⁱ	Q8IUQ0

Polymorphism and mutation databases

BioMutaⁱ	CLVS1
DMDMⁱ	74727971

Proteomic databases

PaxDbⁱ	Q8IUQ0
PeptideAtlasⁱ	Q8IUQ0
PRIDEⁱ	Q8IUQ0
ProteomicsDBⁱ	70591 70592 [Q8IUQ0-2]

Protocols and materials databases

The DNASU plasmid repository More...DNASUⁱ	157807
Structural Biology Knowledgebase	Search...

Genome annotation databases

Ensemblⁱ	ENST00000325897; ENSP00000325506; ENSG00000177182 [Q8IUQ0-1] ENST00000519846; ENSP00000428402; ENSG00000177182 [Q8IUQ0-1]
GeneIDⁱ	157807
KEGGⁱ	hsa:157807
UCSCⁱ	uc003xuh.4 human [Q8IUQ0-1]

Organism-specific databases

CTDⁱ	157807
DisGeNETⁱ	157807
EuPathDBⁱ	HostDB:ENSG00000177182.10
GeneCardsⁱ	CLVS1
HGNCⁱ	HGNC:23139 CLVS1
MIMⁱ	611292 gene
neXtProtⁱ	NX_Q8IUQ0
OpenTargetsⁱ	ENSG00000177182
PharmGKBⁱ	PA165585423
GenAtlas: human gene database More...GenAtlasⁱ	Search...

Phylogenomic databases

eggNOGⁱ	KOG1471 Eukaryota ENOG410XRSQ LUCA
GeneTreeⁱ	ENSGT00550000074253
HOGENOMⁱ	HOG000059544
HOVERGENⁱ	HBG101105
InParanoidⁱ	Q8IUQ0
OMAⁱ	WKGDLAK
OrthoDBⁱ	EOG091G0KN0
PhylomeDBⁱ	Q8IUQ0

Enzyme and pathway databases

Reactomeⁱ	R-HSA-432720 Lysosome Vesicle Biogenesis

Reactomeⁱ

R-HSA-432720 Lysosome Vesicle Biogenesis

Miscellaneous databases

ChiTaRSⁱ	CLVS1 human
GenomeRNAiⁱ	157807
Protein Ontology More...PROⁱ	PR:Q8IUQ0
SOURCEⁱ	Search...

Gene expression databases

Bgeeⁱ	ENSG00000177182 Expressed in 70 organ(s), highest expression level in caudate nucleus
CleanExⁱ	HS_RLBP1L1
ExpressionAtlasⁱ	Q8IUQ0 baseline and differential
Genevisibleⁱ	Q8IUQ0 HS

Family and domain databases

CDDⁱ	cd00170 SEC14, 1 hit
Gene3Dⁱ	3.40.525.10, 1 hit
InterProⁱ	View 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
PANTHERⁱ	PTHR10174:SF72 PTHR10174:SF72, 1 hit
Pfamⁱ	View protein in Pfam PF00650 CRAL_TRIO, 1 hit PF03765 CRAL_TRIO_N, 1 hit
SMARTⁱ	View protein in SMART SM01100 CRAL_TRIO_N, 1 hit SM00516 SEC14, 1 hit
SUPFAMⁱ	SSF46938 SSF46938, 1 hit SSF52087 SSF52087, 1 hit
PROSITEⁱ	View protein in PROSITE PS50191 CRAL_TRIO, 1 hit
ProtoNetⁱ	Search...

Entry informationⁱ

Entry nameⁱ	CLVS1_HUMAN
Accessionⁱ	Q8IUQ0Primary (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 7, 2018
	This is version 125 of the entry and version 1 of the sequence. See complete history.
Entry statusⁱ	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.

Miscellaneousⁱ

Keywords - Technical termⁱ

Complete proteome, Reference proteome

Documents

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

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UniProtKB - Q8IUQ0 (CLVS1_HUMAN)

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Clavesin-1

CLVS1

Select a section on the left to see content.

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Miscellaneous

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

Enzyme and pathway databases

Chemistry databases

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

Organism-specific databases

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Endosome

Golgi apparatus

Other locations

Endosome

Golgi apparatus

Other locations

Keywords - Cellular componenti

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Mutagenesis

Organism-specific databases

Polymorphism and mutation databases

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Proteomic databases

PTM databases

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

Protein-protein interaction databases

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Phylogenomic databases

Family and domain databases

Experimental Info

Alternative sequence

Sequence databases

Genome annotation databases

Keywords - Coding sequence diversityi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

3D structure databases

Protein-protein interaction databases

Chemistry databases

PTM databases

Polymorphism and mutation databases

Proteomic databases

Protocols and materials databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Enzyme and pathway databases

Miscellaneous databases

Gene expression databases

Family and domain databases

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Documents

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Functionⁱ

GO - Molecular functionⁱ

GO - Biological processⁱ

Names & Taxonomyⁱ

Subcellular locationⁱ

Keywords - Cellular componentⁱ

Pathology & Biotechⁱ

PTM / Processingⁱ

Expressionⁱ

Interactionⁱ

Structureⁱ

Family & Domainsⁱ

Keywords - Coding sequence diversityⁱ

Cross-referencesⁱ

Entry informationⁱ

Miscellaneousⁱ

Keywords - Technical termⁱ