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Protein

Clarin-3

Gene

CLRN3

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 3 out of 5-Experimental evidence at transcript leveli

Functioni

Protein family/group databases

TCDBi9.A.46.1.3. the clarin (clrn) family.

Names & Taxonomyi

Protein namesi
Recommended name:
Clarin-3
Alternative name(s):
Transmembrane protein 12
Usher syndrome type-3A-like protein 1
Gene namesi
Name:CLRN3
Synonyms:TMEM12, USH3AL1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 10

Organism-specific databases

EuPathDBiHostDB:ENSG00000180745.4.
HGNCiHGNC:20795. CLRN3.

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
Transmembranei8 – 28HelicalSequence analysisAdd BLAST21
Transmembranei92 – 112HelicalSequence analysisAdd BLAST21
Transmembranei129 – 149HelicalSequence analysisAdd BLAST21
Transmembranei181 – 201HelicalSequence analysisAdd BLAST21

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Organism-specific databases

DisGeNETi119467.
OpenTargetsiENSG00000180745.
PharmGKBiPA162382510.

Polymorphism and mutation databases

BioMutaiCLRN3.
DMDMi74751198.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002746981 – 226Clarin-3Add BLAST226

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi83N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

MaxQBiQ8NCR9.
PaxDbiQ8NCR9.
PeptideAtlasiQ8NCR9.
PRIDEiQ8NCR9.

PTM databases

iPTMnetiQ8NCR9.
PhosphoSitePlusiQ8NCR9.

Expressioni

Gene expression databases

BgeeiENSG00000180745.
CleanExiHS_CLRN3.
GenevisibleiQ8NCR9. HS.

Organism-specific databases

HPAiHPA014482.

Interactioni

Protein-protein interaction databases

BioGridi125642. 2 interactors.
IntActiQ8NCR9. 1 interactor.
MINTiMINT-5000712.
STRINGi9606.ENSP00000357660.

Structurei

3D structure databases

ProteinModelPortaliQ8NCR9.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the clarin family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IXPT. Eukaryota.
ENOG4112478. LUCA.
GeneTreeiENSGT00850000132319.
HOGENOMiHOG000111796.
HOVERGENiHBG081252.
InParanoidiQ8NCR9.
OMAiMEYAPRD.
OrthoDBiEOG091G0SC0.
PhylomeDBiQ8NCR9.
TreeFamiTF331875.

Family and domain databases

InterProiView protein in InterPro
IPR026748. Clarin.
PANTHERiPTHR31548. PTHR31548. 1 hit.

Sequences (2)i

Sequence statusi: Complete.

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

Isoform 1 (identifier: Q8NCR9-1) [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
MPTTKKTLMF LSSFFTSLGS FIVICSILGT QAWITSTIAV RDSASNGSIF
60 70 80 90 100
ITYGLFRGES SEELSHGLAE PKKKFAVLEI LNNSSQKTLH SVTILFLVLS
110 120 130 140 150
LITSLLSSGF TFYNSISNPY QTFLGPTGVY TWNGLGASFV FVTMILFVAN
160 170 180 190 200
TQSNQLSEEL FQMLYPATTS KGTTHSYGYS FWLILLVILL NIVTVTIIIF
210 220
YQKARYQRKQ EQRKPMEYAP RDGILF
Length:226
Mass (Da):25,321
Last modified:October 1, 2002 - v1
Checksum:i3139127324A08CF1
GO
Isoform 2 (identifier: Q8NCR9-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-68: Missing.
     69-76: AEPKKKFA → MHSQNIVL

Note: No experimental confirmation available.
Show »
Length:158
Mass (Da):18,007
Checksum:i4D493CC716CC9F9C
GO

Sequence cautioni

The sequence CAE45899 differs from that shown. Reason: Erroneous initiation.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06939922I → N1 Publication1
Natural variantiVAR_05382875F → I. Corresponds to variant dbSNP:rs35070529Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0228711 – 68Missing in isoform 2. 1 PublicationAdd BLAST68
Alternative sequenceiVSP_02287269 – 76AEPKKKFA → MHSQNIVL in isoform 2. 1 Publication8

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
BX640823 mRNA. Translation: CAE45899.1. Different initiation.
AL158166 Genomic DNA. Translation: CAI14770.1.
BC029478 mRNA. Translation: AAH29478.1.
CCDSiCCDS7656.1. [Q8NCR9-1]
RefSeqiNP_689524.1. NM_152311.4. [Q8NCR9-1]
UniGeneiHs.242014.

Genome annotation databases

EnsembliENST00000368671; ENSP00000357660; ENSG00000180745. [Q8NCR9-1]
GeneIDi119467.
KEGGihsa:119467.
UCSCiuc001lka.2. human. [Q8NCR9-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiCLRN3_HUMAN
AccessioniPrimary (citable) accession number: Q8NCR9
Secondary accession number(s): Q6MZX8
Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 6, 2007
Last sequence update: October 1, 2002
Last modified: September 27, 2017
This is version 108 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. Human chromosome 10
    Human chromosome 10: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. SIMILARITY comments
    Index of protein domains and families