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Protein

Clarin-1

Gene

CLRN1

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

May have a role in the excitatory ribbon synapse junctions between hair cells and cochlear ganglion cells and presumably also in analogous synapses within the retina.1 Publication

<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 - Biological processi

<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

Biological processHearing, Sensory transduction, Vision

Protein family/group databases

Transport Classification Database

More...
TCDBi
9.A.46.1.1 the clarin (clrn) family

<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_and_taxonomy_section">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:
Clarin-1
Alternative name(s):
Usher syndrome type-3 protein
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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:CLRN1
Synonyms:USH3A
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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_manual">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 3

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000163646.10

Human Gene Nomenclature Database

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HGNCi
HGNC:12605 CLRN1

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
606397 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_P58418

<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

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

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei8 – 28HelicalSequence analysisAdd BLAST21
Transmembranei101 – 121HelicalSequence analysisAdd BLAST21
Transmembranei135 – 155HelicalSequence analysisAdd BLAST21
Transmembranei186 – 206HelicalSequence analysisAdd BLAST21

Keywords - Cellular componenti

Cell membrane, Membrane

<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

Usher syndrome 3A (USH3A)6 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionUSH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa with sensorineural deafness. Age at onset and differences in auditory and vestibular function distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2) and Usher syndrome type 3 (USH3). USH3 is characterized by postlingual, progressive hearing loss, variable vestibular dysfunction, and onset of retinitis pigmentosa symptoms, including nyctalopia, constriction of the visual fields, and loss of central visual acuity, usually by the second decade of life.
See also OMIM:276902
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_05455540C → G in USH3A. 1 PublicationCorresponds to variant dbSNP:rs121908143EnsemblClinVar.1
Natural variantiVAR_03034548N → K in USH3A. 2 PublicationsCorresponds to variant dbSNP:rs111033258EnsemblClinVar.1
Natural variantiVAR_054556105S → P in USH3A. 1 Publication1
Natural variantiVAR_012241120M → K in USH3A. 1 PublicationCorresponds to variant dbSNP:rs121908141EnsemblClinVar.1
Natural variantiVAR_030346150L → P in USH3A. 1 PublicationCorresponds to variant dbSNP:rs121908142Ensembl.1
Natural variantiVAR_012242153 – 154IL → M in USH3A. 1 Publication2
Natural variantiVAR_071434168I → N in USH3A. 1 Publication1
Retinitis pigmentosa 61 (RP61)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well.
See also OMIM:614180
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06667331P → L in RP61; the mutant protein is retained in the endoplasmic reticulum. 1 PublicationCorresponds to variant dbSNP:rs374390376EnsemblClinVar.1
Natural variantiVAR_066674154L → W in RP61; the mutant protein is retained in the endoplasmic reticulum. 1 PublicationCorresponds to variant dbSNP:rs775098953Ensembl.1

Keywords - Diseasei

Deafness, Disease mutation, Retinitis pigmentosa, Usher syndrome

Organism-specific databases

DisGeNET

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DisGeNETi
7401

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

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GeneReviewsi
CLRN1

MalaCards human disease database

More...
MalaCardsi
CLRN1
MIMi276902 phenotype
614180 phenotype

Open Targets

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OpenTargetsi
ENSG00000163646

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

More...
Orphaneti
791 Retinitis pigmentosa
231183 Usher syndrome type 3

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA37231

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
CLRN1

Domain mapping of disease mutations (DMDM)

More...
DMDMi
125987806

<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.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000657291 – 232Clarin-1Add BLAST232

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi48N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

PRoteomics IDEntifications database

More...
PRIDEi
P58418

ProteomicsDB human proteome resource

More...
ProteomicsDBi
57074
57075 [P58418-1]
57076 [P58418-4]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
P58418

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

More...
PhosphoSitePlusi
P58418

<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

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Widely expressed. Found in the retina.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000163646 Expressed in 32 organ(s), highest expression level in adrenal tissue

CleanEx database of gene expression profiles

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CleanExi
HS_CLRN1

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
P58418 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
P58418 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA054636

<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

Protein interaction database and analysis system

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IntActi
P58418, 20 interactors

<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

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
P58418

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
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

<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 clarin family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

Ensembl GeneTree

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GeneTreei
ENSGT00850000132319

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000060265

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG061269

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
P58418

Identification of Orthologs from Complete Genome Data

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OMAi
AYKTQSE

Database of Orthologous Groups

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OrthoDBi
EOG091G0H1F

Database for complete collections of gene phylogenies

More...
PhylomeDBi
P58418

TreeFam database of animal gene trees

More...
TreeFami
TF331875

Family and domain databases

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR026748 Clarin

The PANTHER Classification System

More...
PANTHERi
PTHR31548 PTHR31548, 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_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<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_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">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.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket
Note: Additional isoforms seem to exist.

This entry has 3 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: P58418-3) [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
MPSQQKKIIF CMAGVFSFAC ALGVVTALGT PLWIKATVLC KTGALLVNAS
60 70 80 90 100
GQELDKFMGE MQYGLFHGEG VRQCGLGARP FRFSFFPDLL KAIPVSIHVN
110 120 130 140 150
VILFSAILIV LTMVGTAFFM YNAFGKPFET LHGPLGLYLL SFISGSCGCL
160 170 180 190 200
VMILFASEVK IHHLSEKIAN YKEGTYVYKT QSEKYTTSFW VIFFCFFVHF
210 220 230
LNGLLIRLAG FQFPFAKSKD AETTNVAADL MY
Length:232
Mass (Da):25,719
Last modified:February 6, 2007 - v2
<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:i2713C621FEBE4281
GO
Isoform 2 (identifier: P58418-1) [UniParc]FASTAAdd to basket
Also known as: A

The sequence of this isoform differs from the canonical sequence as follows:
     1-85: MPSQQKKIIF...LGARPFRFSF → MQALQQQPV
     191-232: VIFFCFFVHFLNGLLIRLAGFQFPFAKSKDAETTNVAADLMY → LTKGHS

Show »
Length:120
Mass (Da):13,421
Checksum:i959B081E7665A2D1
GO
Isoform 3 (identifier: P58418-4) [UniParc]FASTAAdd to basket
Also known as: 0-2-2b-3

The sequence of this isoform differs from the canonical sequence as follows:
     144-144: S → SVALWLPATRHQAQ

Show »
Length:245
Mass (Da):27,192
Checksum:i024BFE7B5C3788D3
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
C9JYI2C9JYI2_HUMAN
Clarin-1
CLRN1
177Annotation score:

Annotation score:1 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>
E1ACV0E1ACV0_HUMAN
Clarin-1 transcript variant 8
CLRN1
48Annotation score:

Annotation score:1 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>
A0A2R8Y8A4A0A2R8Y8A4_HUMAN
Clarin-1
CLRN1
49Annotation score:

Annotation score:1 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>

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0538257K → I. Corresponds to variant dbSNP:rs3796241Ensembl.1
Natural variantiVAR_06667331P → L in RP61; the mutant protein is retained in the endoplasmic reticulum. 1 PublicationCorresponds to variant dbSNP:rs374390376EnsemblClinVar.1
Natural variantiVAR_05455540C → G in USH3A. 1 PublicationCorresponds to variant dbSNP:rs121908143EnsemblClinVar.1
Natural variantiVAR_03034548N → K in USH3A. 2 PublicationsCorresponds to variant dbSNP:rs111033258EnsemblClinVar.1
Natural variantiVAR_054556105S → P in USH3A. 1 Publication1
Natural variantiVAR_012241120M → K in USH3A. 1 PublicationCorresponds to variant dbSNP:rs121908141EnsemblClinVar.1
Natural variantiVAR_030346150L → P in USH3A. 1 PublicationCorresponds to variant dbSNP:rs121908142Ensembl.1
Natural variantiVAR_012242153 – 154IL → M in USH3A. 1 Publication2
Natural variantiVAR_066674154L → W in RP61; the mutant protein is retained in the endoplasmic reticulum. 1 PublicationCorresponds to variant dbSNP:rs775098953Ensembl.1
Natural variantiVAR_071434168I → N in USH3A. 1 Publication1

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. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0228681 – 85MPSQQ…FRFSF → MQALQQQPV in isoform 2. 1 PublicationAdd BLAST85
Alternative sequenceiVSP_043303144S → SVALWLPATRHQAQ in isoform 3. 1 Publication1
Alternative sequenceiVSP_022869191 – 232VIFFC…ADLMY → LTKGHS in isoform 2. 1 PublicationAdd BLAST42

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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DDBJi
Links Updated
AF388366 mRNA Translation: AAL09581.1
AF482697 mRNA Translation: AAN07148.1
AF495717 mRNA Translation: AAM88774.1
HM626132 mRNA Translation: ADM63096.1
AC020636 Genomic DNA No translation available.
CH471052 Genomic DNA Translation: EAW78814.1
CH471052 Genomic DNA Translation: EAW78815.1
BC074970 mRNA Translation: AAH74970.1
BC074971 mRNA Translation: AAH74971.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS3153.1 [P58418-3]
CCDS35492.1 [P58418-1]
CCDS56285.1 [P58418-4]

NCBI Reference Sequences

More...
RefSeqi
NP_001182723.1, NM_001195794.1 [P58418-4]
NP_443721.1, NM_052995.2 [P58418-1]
NP_777367.1, NM_174878.2 [P58418-3]

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.745448

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000295911; ENSP00000295911; ENSG00000163646 [P58418-1]
ENST00000327047; ENSP00000322280; ENSG00000163646 [P58418-3]
ENST00000328863; ENSP00000329158; ENSG00000163646 [P58418-4]

Database of genes from NCBI RefSeq genomes

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GeneIDi
7401

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:7401

UCSC genome browser

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UCSCi
uc003eyj.3 human [P58418-3]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<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

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

Mutations of the USH3A gene

Retina International's Scientific Newsletter

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF388366 mRNA Translation: AAL09581.1
AF482697 mRNA Translation: AAN07148.1
AF495717 mRNA Translation: AAM88774.1
HM626132 mRNA Translation: ADM63096.1
AC020636 Genomic DNA No translation available.
CH471052 Genomic DNA Translation: EAW78814.1
CH471052 Genomic DNA Translation: EAW78815.1
BC074970 mRNA Translation: AAH74970.1
BC074971 mRNA Translation: AAH74971.1
CCDSiCCDS3153.1 [P58418-3]
CCDS35492.1 [P58418-1]
CCDS56285.1 [P58418-4]
RefSeqiNP_001182723.1, NM_001195794.1 [P58418-4]
NP_443721.1, NM_052995.2 [P58418-1]
NP_777367.1, NM_174878.2 [P58418-3]
UniGeneiHs.745448

3D structure databases

ProteinModelPortaliP58418
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

IntActiP58418, 20 interactors

Protein family/group databases

TCDBi9.A.46.1.1 the clarin (clrn) family

PTM databases

iPTMnetiP58418
PhosphoSitePlusiP58418

Polymorphism and mutation databases

BioMutaiCLRN1
DMDMi125987806

Proteomic databases

PRIDEiP58418
ProteomicsDBi57074
57075 [P58418-1]
57076 [P58418-4]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000295911; ENSP00000295911; ENSG00000163646 [P58418-1]
ENST00000327047; ENSP00000322280; ENSG00000163646 [P58418-3]
ENST00000328863; ENSP00000329158; ENSG00000163646 [P58418-4]
GeneIDi7401
KEGGihsa:7401
UCSCiuc003eyj.3 human [P58418-3]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
7401
DisGeNETi7401
EuPathDBiHostDB:ENSG00000163646.10

GeneCards: human genes, protein and diseases

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GeneCardsi
CLRN1
GeneReviewsiCLRN1
HGNCiHGNC:12605 CLRN1
HPAiHPA054636
MalaCardsiCLRN1
MIMi276902 phenotype
606397 gene
614180 phenotype
neXtProtiNX_P58418
OpenTargetsiENSG00000163646
Orphaneti791 Retinitis pigmentosa
231183 Usher syndrome type 3
PharmGKBiPA37231

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

GeneTreeiENSGT00850000132319
HOGENOMiHOG000060265
HOVERGENiHBG061269
InParanoidiP58418
OMAiAYKTQSE
OrthoDBiEOG091G0H1F
PhylomeDBiP58418
TreeFamiTF331875

Miscellaneous databases

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
CLRN1

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

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GenomeRNAii
7401

Protein Ontology

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PROi
PR:P58418

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000163646 Expressed in 32 organ(s), highest expression level in adrenal tissue
CleanExiHS_CLRN1
ExpressionAtlasiP58418 baseline and differential
GenevisibleiP58418 HS

Family and domain databases

InterProiView protein in InterPro
IPR026748 Clarin
PANTHERiPTHR31548 PTHR31548, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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<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 nameiCLRN1_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: P58418
Secondary accession number(s): D3DNJ3, E1ACU9, Q8N6A9
<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_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 5, 2001
Last sequence update: February 6, 2007
Last modified: November 7, 2018
This is version 139 of the entry and version 2 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

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 3
    Human chromosome 3: entries, gene names and cross-references to MIM
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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