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UniProtKB - Q6NZI2 (CAVN1_HUMAN)

Entry version 165 (07 Apr 2021)
Sequence version 1 (05 Jul 2004)
Previous versions | rss
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Protein

Caveolae-associated protein 1

Gene

CAVIN1

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

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<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

Plays an important role in caveolae formation and organization. Essential for the formation of caveolae in all tissues (PubMed:18056712, PubMed:18191225, PubMed:19726876). Core component of the CAVIN complex which is essential for recruitment of the complex to the caveolae in presence of calveolin-1 (CAV1). Essential for normal oligomerization of CAV1. Promotes ribosomal transcriptional activity in response to metabolic challenges in the adipocytes and plays an important role in the formation of the ribosomal transcriptional loop. Dissociates transcription complexes paused by DNA-bound TTF1, thereby releasing both RNA polymerase I and pre-RNA from the template (By similarity) (PubMed:18056712, PubMed:18191225, PubMed:19726876). The caveolae biogenesis pathway is required for the secretion of proteins such as GASK1A (By similarity).By similarity3 Publications

<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

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionRNA-binding, rRNA-binding
Biological processTranscription, Transcription regulation, Transcription termination

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q6NZI2

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-73863, RNA Polymerase I Transcription Termination

<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

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Caveolae-associated protein 1Imported
Alternative name(s):
Cavin-1
Polymerase I and transcript release factor
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:CAVIN1Imported
Synonyms:PTRF
ORF Names:FKSG13
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 17

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:9688, CAVIN1

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		603198, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q6NZI2

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000177469.12

<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

Keywords - Cellular componenti

Cell membrane, Cytoplasm, Endoplasmic reticulum, Membrane, Microsome, Mitochondrion, Nucleus

<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

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Congenital generalized lipodystrophy 4 (CGL4)2 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA disorder characterized by the association of congenital generalized lipodystrophy with muscular dystrophy and cardiac anomalies. Congenital generalized lipodystrophy is characterized by a near complete absence of adipose tissue, extreme insulin resistance, hypertriglyceridemia, hepatic steatosis and early onset of diabetes.
Related information in OMIM

Keywords - Diseasei

Congenital generalized lipodystrophy, Diabetes mellitus

Organism-specific databases

DisGeNET

More...DisGeNETi		284119

MalaCards human disease database

More...MalaCardsi		CAVIN1
MIMi613327, phenotype

Open Targets

More...OpenTargetsi		ENSG00000177469

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		528, Berardinelli-Seip congenital lipodystrophy

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA34031

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q6NZI2, Tbio

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		CAVIN1

Domain mapping of disease mutations (DMDM)

More...DMDMi		56749614

<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

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000970941 – 390Caveolae-associated protein 1Add BLAST390

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei1N-acetylmethionine1 Publication1
Modified residuei36Phosphoserine1 Publication1
Modified residuei40Phosphoserine1 Publication1
Modified residuei46PhosphoserineBy similarity1
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section describes <strong>covalent linkages</strong> of various types formed <strong>between two proteins (interchain cross-links)</strong> or <strong>between two parts of the same protein (intrachain cross-links)</strong>, except the disulfide bonds that are annotated in the <a href="http://www.uniprot.org/manual/disulfid">'Disulfide bond'</a> subsection.<p><a href='/help/crosslnk' target='_top'>More...</a></p>Cross-linki116Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei118PhosphoserineCombined sources1
Cross-linki122Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei156PhosphotyrosineBy similarity1
Cross-linki161Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO1); alternateCombined sources
Cross-linki161Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2); alternateCombined sources
Cross-linki165Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei167PhosphoserineCombined sources1
Modified residuei169PhosphoserineCombined sources1
Cross-linki170Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei171PhosphoserineBy similarity1
Modified residuei175PhosphoserineBy similarity1
Modified residuei202PhosphoserineCombined sources1
Modified residuei203PhosphoserineCombined sources1
Modified residuei300PhosphoserineCombined sources1
Modified residuei302PhosphothreonineCombined sources1
Modified residuei308PhosphotyrosineCombined sources1
Cross-linki326Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei365PhosphoserineCombined sources1 Publication1
Modified residuei366PhosphoserineCombined sources1 Publication1
Modified residuei379PhosphoserineCombined sources1
Modified residuei387PhosphoserineCombined sources1
Modified residuei389PhosphoserineCombined sources1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Phosphorylated. Present in active and inactive forms. Changes in phosphorylation pattern may alter activity. Phosphorylation at Tyr-156 is essential for its functionin the regulation of ribosomal transcriptional activity.By similarity
Five truncated forms are found in the caveolae. These are thought to be the result of proteolysis and may be phosphorylation-dependent.1 Publication
Monoubiquitinated.By similarity

Keywords - PTMi

Acetylation, Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q6NZI2

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q6NZI2

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q6NZI2

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q6NZI2

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		Q6NZI2

PeptideAtlas

More...PeptideAtlasi		Q6NZI2

PRoteomics IDEntifications database

More...PRIDEi		Q6NZI2

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		66794 [Q6NZI2-1]
66795 [Q6NZI2-2]
66796 [Q6NZI2-3]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q6NZI2

MetOSite database of methionine sulfoxide sites

More...MetOSitei		Q6NZI2

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		Q6NZI2

SwissPalm database of S-palmitoylation events

More...SwissPalmi		Q6NZI2

<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

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000177469, Expressed in adipose tissue of abdominal region and 245 other tissues

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q6NZI2, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000177469, Low tissue specificity

<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

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Component of the CAVIN complex composed of CAVIN1, CAVIN2, CAVIN3 and CAVIN4. Homotrimer (By similarity).

Interacts with TTF1 (PubMed:9582279).

Interacts with RNA polymerase I. Binds the 3' end of pre-rRNA.

Interacts with transcription factor ZNF148 (By similarity).

Interacts with LIPE in the adipocyte cytoplasm (PubMed:17026959).

Interacts with CAV1 and CAVIN3 (By similarity).

Interacts with CAVIN2 (PubMed:19525939, PubMed:24567387).

Interacts with CAVIN4 and CAV3 (PubMed:24567387).

By similarity4 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Hide details

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		129767, 185 interactors

Database of interacting proteins

More...DIPi		DIP-48550N

The Eukaryotic Linear Motif resource for Functional Sites in Proteins

More...ELMi		Q6NZI2

Protein interaction database and analysis system

More...IntActi		Q6NZI2, 106 interactors

Molecular INTeraction database

More...MINTi		Q6NZI2

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000349541

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q6NZI2, protein

<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

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		Q6NZI2

Database of comparative protein structure models

More...ModBasei		Search...

<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

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni1 – 98Required for homotrimerization and for interaction with CAVIN2 and CAVIN3By similarityAdd BLAST98
Regioni52 – 62Nuclear export signalBy similarityAdd BLAST11
Regioni53 – 75Leucine-zipper 1By similarityAdd BLAST23
Regioni136 – 152Nuclear localization signalBy similarityAdd BLAST17
Regioni166 – 186Leucine-zipper 2By similarityAdd BLAST21
Regioni233 – 249Nuclear localization signalBy similarityAdd BLAST17
Regioni257 – 297Leucine-zipper 3By similarityAdd BLAST41

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and domains' section denotes the positions of regions of coiled coil within the protein.<p><a href='/help/coiled' target='_top'>More...</a></p>Coiled coili199 – 282Sequence analysisAdd BLAST84

<p>This subsection of the 'Family and domains' section provides general information on the biological role of a domain. The term 'domain' is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

The leucine-zipper domain 1 is essential for its localization in the caveolae.By similarity

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the CAVIN family.Curated

Keywords - Domaini

Coiled coil, Repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		ENOG502QV3D, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00950000182910

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_039470_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q6NZI2

Identification of Orthologs from Complete Genome Data

More...OMAi		ESPEMHT

Database of Orthologous Groups

More...OrthoDBi		1060453at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q6NZI2

TreeFam database of animal gene trees

More...TreeFami		TF331031

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR033297, Cavin-1
IPR026752, Cavin_fam

The PANTHER Classification System

More...PANTHERi		PTHR15240, PTHR15240, 1 hit
PTHR15240:SF3, PTHR15240:SF3, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF15237, PTRF_SDPR, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (3)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 3 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket
Isoform 1Curated (identifier: Q6NZI2-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
MEDPTLYIVE RPLPGYPDAE APEPSSAGAQ AAEEPSGAGS EELIKSDQVN 
        60         70         80         90        100
GVLVLSLLDK IIGAVDQIQL TQAQLEERQA EMEGAVQSIQ GELSKLGKAH 
       110        120        130        140        150
ATTSNTVSKL LEKVRKVSVN VKTVRGSLER QAGQIKKLEV NEAELLRRRN 
       160        170        180        190        200
FKVMIYQDEV KLPAKLSISK SLKESEALPE KEGEELGEGE RPEEDAAALE 
       210        220        230        240        250
LSSDEAVEVE EVIEESRAER IKRSGLRRVD DFKKAFSKEK MEKTKVRTRE 
       260        270        280        290        300
NLEKTRLKTK ENLEKTRHTL EKRMNKLGTR LVPAERREKL KTSRDKLRKS 
       310        320        330        340        350
FTPDHVVYAR SKTAVYKVPP FTFHVKKIRE GQVEVLKATE MVEVGADDDE 
       360        370        380        390
GGAERGEAGD LRRGSSPDVH ALLEITEESD AVLVDKSDSD
Length:390
Mass (Da):43,476
Last modified:July 5, 2004 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iE37945A9C9E819D4
GO
Isoform 2Curated (identifier: Q6NZI2-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     96-185: Missing.

Show »
Length:300
Mass (Da):33,362
Checksum:i5C2646922C2ACD9F
GO
Isoform 3Curated (identifier: Q6NZI2-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-193: MEDPTLYIVE...EELGEGERPE → M

Show »
Length:198
Mass (Da):22,597
Checksum:i4822DAA1E67049D4
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti47D → V AA sequence (PubMed:15242332).Curated1
Sequence conflicti213I → L AA sequence (PubMed:15242332).Curated1
Sequence conflicti219E → K in AAG27093 (Ref. 1) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_03598214P → T in a breast cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_034416193E → Q. Corresponds to variant dbSNP:rs35308568Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0516241 – 193MEDPT…GERPE → M in isoform 3. 1 PublicationAdd BLAST193
Alternative sequenceiVSP_05162596 – 185Missing in isoform 2. 1 PublicationAdd BLAST90

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
Links Updated
AF312393 mRNA Translation: AAG27093.1
AK314389 mRNA Translation: BAG37014.1
CH471152 Genomic DNA Translation: EAW60828.1
BC004295 mRNA Translation: AAH04295.1
BC008849 mRNA Translation: AAH08849.1
BC066123 mRNA Translation: AAH66123.1
BC073759 mRNA Translation: AAH73759.1
AF000421 mRNA Translation: AAC63404.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS11425.1 [Q6NZI2-1]

NCBI Reference Sequences

More...RefSeqi		NP_036364.2, NM_012232.5 [Q6NZI2-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000357037; ENSP00000349541; ENSG00000177469 [Q6NZI2-1]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		284119

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:284119

UCSC genome browser

More...UCSCi		uc002hzo.4, human [Q6NZI2-1]

Keywords - Coding sequence diversityi

Alternative splicing

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<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

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF312393 mRNA Translation: AAG27093.1
AK314389 mRNA Translation: BAG37014.1
CH471152 Genomic DNA Translation: EAW60828.1
BC004295 mRNA Translation: AAH04295.1
BC008849 mRNA Translation: AAH08849.1
BC066123 mRNA Translation: AAH66123.1
BC073759 mRNA Translation: AAH73759.1
AF000421 mRNA Translation: AAC63404.1
CCDSiCCDS11425.1 [Q6NZI2-1]
RefSeqiNP_036364.2, NM_012232.5 [Q6NZI2-1]

3D structure databases

SMRiQ6NZI2
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi129767, 185 interactors
DIPiDIP-48550N
ELMiQ6NZI2
IntActiQ6NZI2, 106 interactors
MINTiQ6NZI2
STRINGi9606.ENSP00000349541

PTM databases

iPTMnetiQ6NZI2
MetOSiteiQ6NZI2
PhosphoSitePlusiQ6NZI2
SwissPalmiQ6NZI2

Genetic variation databases

BioMutaiCAVIN1
DMDMi56749614

Proteomic databases

EPDiQ6NZI2
jPOSTiQ6NZI2
MassIVEiQ6NZI2
MaxQBiQ6NZI2
PaxDbiQ6NZI2
PeptideAtlasiQ6NZI2
PRIDEiQ6NZI2
ProteomicsDBi66794 [Q6NZI2-1]
66795 [Q6NZI2-2]
66796 [Q6NZI2-3]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		29228, 217 antibodies

Genome annotation databases

EnsembliENST00000357037; ENSP00000349541; ENSG00000177469 [Q6NZI2-1]
GeneIDi284119
KEGGihsa:284119
UCSCiuc002hzo.4, human [Q6NZI2-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		284119
DisGeNETi284119

GeneCards: human genes, protein and diseases

More...GeneCardsi		CAVIN1
HGNCiHGNC:9688, CAVIN1
HPAiENSG00000177469, Low tissue specificity
MalaCardsiCAVIN1
MIMi603198, gene
613327, phenotype
neXtProtiNX_Q6NZI2
OpenTargetsiENSG00000177469
Orphaneti528, Berardinelli-Seip congenital lipodystrophy
PharmGKBiPA34031
VEuPathDBiHostDB:ENSG00000177469.12

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiENOG502QV3D, Eukaryota
GeneTreeiENSGT00950000182910
HOGENOMiCLU_039470_0_0_1
InParanoidiQ6NZI2
OMAiESPEMHT
OrthoDBi1060453at2759
PhylomeDBiQ6NZI2
TreeFamiTF331031

Enzyme and pathway databases

PathwayCommonsiQ6NZI2
ReactomeiR-HSA-73863, RNA Polymerase I Transcription Termination

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		284119, 9 hits in 1004 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		PTRF, human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		PTRF

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		284119
PharosiQ6NZI2, Tbio

Protein Ontology

More...PROi		PR:Q6NZI2
RNActiQ6NZI2, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000177469, Expressed in adipose tissue of abdominal region and 245 other tissues
GenevisibleiQ6NZI2, HS

Family and domain databases

InterProiView protein in InterPro
IPR033297, Cavin-1
IPR026752, Cavin_fam
PANTHERiPTHR15240, PTHR15240, 1 hit
PTHR15240:SF3, PTHR15240:SF3, 1 hit
PfamiView protein in Pfam
PF15237, PTRF_SDPR, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<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 subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiCAVN1_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q6NZI2
Secondary accession number(s): B2RAW7
, O00535, Q6GMY1, Q96H74, Q9BT85, Q9HAP4
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 21, 2004
Last sequence update: July 5, 2004
Last modified: April 7, 2021
This is version 165 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<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

Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families
UniProt is an ELIXIR core data resource
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