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Entry version 141 (26 Feb 2020)
Sequence version 2 (05 Feb 2008)
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Protein

Cadherin-related family member 1

Gene

CDHR1

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

Potential calcium-dependent cell-adhesion protein. May be required for the structural integrity of the outer segment (OS) of photoreceptor cells (By similarity).By similarity

<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

<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 functionReceptor
Biological processCell adhesion
LigandCalcium

<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:
Cadherin-related family member 1
Alternative name(s):
Photoreceptor cadherin
Short name:
prCAD
Protocadherin-21
<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:CDHR1
Synonyms:KIAA1775, PCDH21, PRCAD
<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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<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 10

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:14550 CDHR1

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
609502 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q96JP9

<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 & Seán O’Donoghue; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini20 – 700ExtracellularSequence analysisAdd BLAST681
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'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>Transmembranei701 – 721HelicalSequence analysisAdd BLAST21
Topological domaini722 – 859CytoplasmicSequence analysisAdd BLAST138

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

Cone-rod dystrophy 15 (CORD15)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa, due to cone photoreceptors degenerating at a higher rate than rod photoreceptors.
Related information in OMIM
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_075501574P → A in CORD15. 1 Publication1

Keywords - Diseasei

Cone-rod dystrophy

Organism-specific databases

DisGeNET

More...
DisGeNETi
92211

MalaCards human disease database

More...
MalaCardsi
CDHR1
MIMi613660 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000148600

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

More...
Orphaneti
1872 Cone rod dystrophy
791 Retinitis pigmentosa

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA33005

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q96JP9 Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
CDHR1

Domain mapping of disease mutations (DMDM)

More...
DMDMi
166980558

<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 denotes the presence of an N-terminal signal peptide.<p><a href='/help/signal' target='_top'>More...</a></p>Signal peptidei1 – 19Sequence analysisAdd BLAST19
<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_000031849820 – 859Cadherin-related family member 1Add BLAST840

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">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>Glycosylationi58N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi89N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi296N-linked (GlcNAc...) asparagineSequence analysis1

<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

Undergoes proteolytic cleavage; produces a soluble 95 kDa N-terminal fragment and a 25 kDa cell-associated C-terminal fragment.By similarity

Keywords - PTMi

Glycoprotein

Proteomic databases

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q96JP9

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

More...
PaxDbi
Q96JP9

PeptideAtlas

More...
PeptideAtlasi
Q96JP9

PRoteomics IDEntifications database

More...
PRIDEi
Q96JP9

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
77001 [Q96JP9-1]
77002 [Q96JP9-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q96JP9

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

More...
PhosphoSitePlusi
Q96JP9

<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

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Bgeei
ENSG00000148600 Expressed in skin of abdomen and 132 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q96JP9 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q96JP9 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA036819

<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

Interacts with PROM1.

1 Publication

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
124919, 4 interactors

Protein interaction database and analysis system

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IntActi
Q96JP9, 2 interactors

STRING: functional protein association networks

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STRINGi
9606.ENSP00000485478

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
Q96JP9 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

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SMRi
Q96JP9

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

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family%5Fand%5Fdomains%5Fsection">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini36 – 135Cadherin 1PROSITE-ProRule annotationAdd BLAST100
Domaini136 – 246Cadherin 2PROSITE-ProRule annotationAdd BLAST111
Domaini247 – 353Cadherin 3PROSITE-ProRule annotationAdd BLAST107
Domaini359 – 472Cadherin 4PROSITE-ProRule annotationAdd BLAST114
Domaini473 – 576Cadherin 5PROSITE-ProRule annotationAdd BLAST104
Domaini573 – 688Cadherin 6PROSITE-ProRule annotationAdd BLAST116

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi773 – 829Pro-richAdd BLAST57

Keywords - Domaini

Repeat, Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG3594 Eukaryota
ENOG410XQHI LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000155509

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
CLU_017357_0_0_1

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q96JP9

KEGG Orthology (KO)

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KOi
K16501

Identification of Orthologs from Complete Genome Data

More...
OMAi
VDYSIMQ

Database of Orthologous Groups

More...
OrthoDBi
237790at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q96JP9

TreeFam database of animal gene trees

More...
TreeFami
TF332908

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR002126 Cadherin-like_dom
IPR015919 Cadherin-like_sf
IPR020894 Cadherin_CS

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00028 Cadherin, 5 hits

Protein Motif fingerprint database; a protein domain database

More...
PRINTSi
PR00205 CADHERIN

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00112 CA, 6 hits

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF49313 SSF49313, 6 hits

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS00232 CADHERIN_1, 2 hits
PS50268 CADHERIN_2, 6 hits

<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 (2+)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.

<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 in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 <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

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

Isoform 1 (identifier: Q96JP9-1) [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
MRRCRWAALA LGLLRLCLAQ ANFAPHFFDN GVGSTNGNMA LFSLPEDTPV
60 70 80 90 100
GSHVYTLNGT DPEGDPISYH ISFDPSTRSV FSVDPTFGNI TLVEELDRER
110 120 130 140 150
EDEIEAIISI SDGLNLVAEK VVILVTDAND EAPRFIQEPY VALVPEDIPA
160 170 180 190 200
GSIIFKVHAV DRDTGSGGSV TYFLQNLHSP FAVDRHSGVL RLQAGATLDY
210 220 230 240 250
ERSRTHYITV VAKDGGGRLH GADVVFSATT TVTVNVEDVQ DMAPVFVGTP
260 270 280 290 300
YYGYVYEDTL PGSEVLKVVA MDGDRGKPNR ILYSLVNGND GAFEINETSG
310 320 330 340 350
AISITQSPAQ LQREVYELHV QVTEMSPAGS PAAQATVPVT IRIVDLNNHP
360 370 380 390 400
PTFYGESGPQ NRFELSMNEH PPQGEILRGL KITVNDSDQG ANAKFNLQLV
410 420 430 440 450
GPRGIFRVVP QTVLNEAQVT IIVENSAAID FEKSKVLTFK LLAVEVNTPE
460 470 480 490 500
KFSSTADVVI QLLDTNDNVP KFDSLYYVAR IPENAPGGSS VVAVTAVDPD
510 520 530 540 550
TGPWGEVKYS TYGTGADLFL IHPSTGLIYT QPWASLDAEA TARYNFYVKA
560 570 580 590 600
EDMEGKYSVA EVFITLLDVN DHPPQFGKSV QKKTMVLGTP VKIEAIDEDA
610 620 630 640 650
EEPNNLVDYS ITHAEPANVF DINSHTGEIW LKNSIRSLDA LHNITPGRDC
660 670 680 690 700
LWSLEVQAKD RGSPSFSTTA LLKIDITDAE TLSRSPMAAF LIQTKDNPMK
710 720 730 740 750
AVGVLAGTMA TVVAITVLIS TATFWRNKKS NKVLPMRRVL RKRPSPAPRT
760 770 780 790 800
IRIEWLKSKS TKAATKFMLK EKPPNENCNN NSPESSLLPR APALPPPPSV
810 820 830 840 850
APSTGAAQWT VPTVSGSLTP QPTQPPPKPK TMGSPVQSTL ISELKQKFEK

KSVHNKAYF
Length:859
Mass (Da):93,595
Last modified:February 5, 2008 - 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:i7D5D9E3E3353039A
GO
Isoform 2 (identifier: Q96JP9-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     681-744: TLSRSPMAAF...PMRRVLRKRP → VRRLRYMKNS...RVFQGAAQAS
     745-859: Missing.

Show »
Length:745
Mass (Da):81,503
Checksum:i2DC1824EBB4AA7D9
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 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A0A6YYA3A0A0A6YYA3_HUMAN
Cadherin-related family member 1
CDHR1
598Annotation score:

Annotation score:2 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>
A0A096LNP9A0A096LNP9_HUMAN
Cadherin-related family member 1
CDHR1
135Annotation 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>
A0A096LNV6A0A096LNV6_HUMAN
Cadherin-related family member 1
CDHR1
78Annotation 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>
A0A096LP91A0A096LP91_HUMAN
Cadherin-related family member 1
CDHR1
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>

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03874453H → Q. Corresponds to variant dbSNP:rs12781048EnsemblClinVar.1
Natural variantiVAR_038745212A → T1 PublicationCorresponds to variant dbSNP:rs200880106Ensembl.1
Natural variantiVAR_038746243A → V. Corresponds to variant dbSNP:rs7086200EnsemblClinVar.1
Natural variantiVAR_038747532P → A1 PublicationCorresponds to variant dbSNP:rs143662988Ensembl.1
Natural variantiVAR_075501574P → A in CORD15. 1 Publication1
Natural variantiVAR_080429716T → S Found in a patient with Joubert syndrome; unknown pathological significance. 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.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_031190681 – 744TLSRS…LRKRP → VRRLRYMKNSNFPGTTKSVR KPKFKPKKPHSSQGLFLHPH CEIALFNLSNVNLYSRVFQG AAQAS in isoform 2. 1 PublicationAdd BLAST64
Alternative sequenceiVSP_031191745 – 859Missing in isoform 2. 1 PublicationAdd BLAST115

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
AC022389 Genomic DNA No translation available.
BC038799 mRNA Translation: AAH38799.1
AB053448 mRNA Translation: BAB61905.1
AL080188 mRNA Translation: CAH10732.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS53548.1 [Q96JP9-2]
CCDS7372.1 [Q96JP9-1]

NCBI Reference Sequences

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RefSeqi
NP_001165442.1, NM_001171971.2 [Q96JP9-2]
NP_149091.1, NM_033100.3 [Q96JP9-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000332904; ENSP00000331063; ENSG00000148600 [Q96JP9-2]
ENST00000623527; ENSP00000485478; ENSG00000148600 [Q96JP9-1]

Database of genes from NCBI RefSeq genomes

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GeneIDi
92211

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:92211

UCSC genome browser

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UCSCi
uc001kcv.4 human [Q96JP9-1]

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

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AC022389 Genomic DNA No translation available.
BC038799 mRNA Translation: AAH38799.1
AB053448 mRNA Translation: BAB61905.1
AL080188 mRNA Translation: CAH10732.1
CCDSiCCDS53548.1 [Q96JP9-2]
CCDS7372.1 [Q96JP9-1]
RefSeqiNP_001165442.1, NM_001171971.2 [Q96JP9-2]
NP_149091.1, NM_033100.3 [Q96JP9-1]

3D structure databases

SMRiQ96JP9
ModBaseiSearch...

Protein-protein interaction databases

BioGridi124919, 4 interactors
IntActiQ96JP9, 2 interactors
STRINGi9606.ENSP00000485478

PTM databases

iPTMnetiQ96JP9
PhosphoSitePlusiQ96JP9

Polymorphism and mutation databases

BioMutaiCDHR1
DMDMi166980558

Proteomic databases

MassIVEiQ96JP9
PaxDbiQ96JP9
PeptideAtlasiQ96JP9
PRIDEiQ96JP9
ProteomicsDBi77001 [Q96JP9-1]
77002 [Q96JP9-2]

Genome annotation databases

EnsembliENST00000332904; ENSP00000331063; ENSG00000148600 [Q96JP9-2]
ENST00000623527; ENSP00000485478; ENSG00000148600 [Q96JP9-1]
GeneIDi92211
KEGGihsa:92211
UCSCiuc001kcv.4 human [Q96JP9-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
92211
DisGeNETi92211

GeneCards: human genes, protein and diseases

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GeneCardsi
CDHR1
HGNCiHGNC:14550 CDHR1
HPAiHPA036819
MalaCardsiCDHR1
MIMi609502 gene
613660 phenotype
neXtProtiNX_Q96JP9
OpenTargetsiENSG00000148600
Orphaneti1872 Cone rod dystrophy
791 Retinitis pigmentosa
PharmGKBiPA33005

Human Unidentified Gene-Encoded large proteins database

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HUGEi
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GenAtlas: human gene database

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GenAtlasi
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Phylogenomic databases

eggNOGiKOG3594 Eukaryota
ENOG410XQHI LUCA
GeneTreeiENSGT00940000155509
HOGENOMiCLU_017357_0_0_1
InParanoidiQ96JP9
KOiK16501
OMAiVDYSIMQ
OrthoDBi237790at2759
PhylomeDBiQ96JP9
TreeFamiTF332908

Miscellaneous databases

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

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ChiTaRSi
CDHR1 human

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

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GenomeRNAii
92211
PharosiQ96JP9 Tbio

Protein Ontology

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PROi
PR:Q96JP9
RNActiQ96JP9 protein

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
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Gene expression databases

BgeeiENSG00000148600 Expressed in skin of abdomen and 132 other tissues
ExpressionAtlasiQ96JP9 baseline and differential
GenevisibleiQ96JP9 HS

Family and domain databases

InterProiView protein in InterPro
IPR002126 Cadherin-like_dom
IPR015919 Cadherin-like_sf
IPR020894 Cadherin_CS
PfamiView protein in Pfam
PF00028 Cadherin, 5 hits
PRINTSiPR00205 CADHERIN
SMARTiView protein in SMART
SM00112 CA, 6 hits
SUPFAMiSSF49313 SSF49313, 6 hits
PROSITEiView protein in PROSITE
PS00232 CADHERIN_1, 2 hits
PS50268 CADHERIN_2, 6 hits

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
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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 nameiCDHR1_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: Q96JP9
Secondary accession number(s): Q69YZ8, Q8IXY5
<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: February 5, 2008
Last sequence update: February 5, 2008
Last modified: February 26, 2020
This is version 141 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

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. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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