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UniProtKB - A2RUB6 (CCD66_HUMAN)

Entry version 105 (10 Feb 2021)
Sequence version 4 (03 Mar 2009)
Previous versions | rss
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Protein

Coiled-coil domain-containing protein 66

Gene

CCDC66

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

Microtubule-binding protein required for ciliogenesis (PubMed:28235840). May function in ciliogenesis by mediating the transport of proteins like BBS4 to the cilium, but also through the organization of the centriolar satellites (PubMed:28235840). Plays a role in retina morphogenesis and/or homeostasis (By similarity).By similarity1 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 - 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

Biological processCilium biogenesis/degradation

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		A2RUB6

<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:
Coiled-coil domain-containing protein 66Curated
<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:CCDC66Imported
<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 3

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:27709, CCDC66

neXtProt; the human protein knowledge platform

More...neXtProti		NX_A2RUB6

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000180376.16

<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

Keywords - Cellular componenti

Cell projection, Cilium, Cytoplasm, Cytoskeleton

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

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology%5Fand%5Fbiotech%5Fsection">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi208 – 948Missing : Loss of association with microtubules and localization to centrosomes. 1 PublicationAdd BLAST741

Organism-specific databases

DisGeNET

More...DisGeNETi		285331

Open Targets

More...OpenTargetsi		ENSG00000180376

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA143485418

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		A2RUB6, Tdark

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		CCDC66

<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_00003200371 – 948Coiled-coil domain-containing protein 66Add BLAST948

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 residuei115PhosphothreonineCombined sources1
Modified residuei121PhosphothreonineCombined sources1
Modified residuei369PhosphoserineBy similarity1
Modified residuei606PhosphoserineBy similarity1

Keywords - PTMi

Disulfide bond, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		A2RUB6

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		A2RUB6

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		A2RUB6

MaxQB - The MaxQuant DataBase

More...MaxQBi		A2RUB6

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

More...PaxDbi		A2RUB6

PeptideAtlas

More...PeptideAtlasi		A2RUB6

PRoteomics IDEntifications database

More...PRIDEi		A2RUB6

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		507 [A2RUB6-1]
508 [A2RUB6-2]
509 [A2RUB6-3]
510 [A2RUB6-4]

Consortium for Top Down Proteomics

More...TopDownProteomicsi		A2RUB6-4 [A2RUB6-4]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		A2RUB6

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

More...PhosphoSitePlusi		A2RUB6

<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 (at protein level) (PubMed:28235840). Expressed in retina, mainly in photoreceptors but also in outer plexiform and ganglion cell layers (at protein level) (PubMed:19777273).2 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000180376, Expressed in sural nerve and 193 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		A2RUB6, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		A2RUB6, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000180376, 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

Homodimer; disulfide-linked (By similarity).

Interacts with CEP290 (PubMed:28235840).

Interacts with PCM1 (PubMed:28235840).

By similarity1 Publication

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		130082, 20 interactors

Protein interaction database and analysis system

More...IntActi		A2RUB6, 16 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000378167

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		A2RUB6, 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		A2RUB6

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

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 coili467 – 558Sequence analysisAdd BLAST92

Keywords - Domaini

Coiled coil

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		ENOG502R1PQ, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00390000012411

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_016964_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		A2RUB6

Identification of Orthologs from Complete Genome Data

More...OMAi		KNSNYER

Database of Orthologous Groups

More...OrthoDBi		1468611at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		A2RUB6

TreeFam database of animal gene trees

More...TreeFami		TF350489

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR039183, CCD66
IPR040467, CCDC66_dom

The PANTHER Classification System

More...PANTHERi		PTHR22736, PTHR22736, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF15236, CCDC66, 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 (4+)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 4 <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

This entry has 4 described isoforms and 5 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: A2RUB6-1) [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
MNLGDGLKLE TELLDGKTKL ILSPYEHKSK ISVKMGNKAK IAKCPLRTKT 
        60         70         80         90        100
GHILKSTQDT CIGSEKLLQK KPVGSETSQA KGEKNGMTFS STKDLCKQCI 
       110        120        130        140        150
DKDCLHIQKE ISPATPNMQK TRNTVNTSLV GKQKPHKKHI TAENMKSSLV 
       160        170        180        190        200
CLTQDQLQQI LMTVNQGNRS LSLTENGKEA KSQYSLYLNS ISNQPKDENI 
       210        220        230        240        250
MGLFKKTEMV SSVPAENKSV LNEHQETSKQ CEQKIAIENE WKPADIFSTL 
       260        270        280        290        300
GERECDRSSL EAKKAQWRKE LDEQVALKKK EKEVSEKWND PWKKSESDKI 
       310        320        330        340        350
IWEKHQILDQ SRETVLLEHP FSAVKQELQR KWIEELNKQI EDDRQRKIEE 
       360        370        380        390        400
KIIYSKGEEH DRWAMHFDSL KSYPGSQSQL FSQSTHKQPE YFCVSPDTQE 
       410        420        430        440        450
LADVSSVCTP TTGSQVEPSE EEHIAKPIKD VVMANSKKTN FLRSMTALLD 
       460        470        480        490        500
PAQIEERDRR RQKQLEHQKA ITAQVEEKRR KKQLEEEQRK KEEQEEELRL 
       510        520        530        540        550
AQEREEMQKQ YEEDILKQKQ KEEIMTLKTN ELFQTMQRAQ ELAQRLKQEQ 
       560        570        580        590        600
RIRELAQKGH DTSRLIKNLG VDTIQMEYNA SNISNSRHDS DEISGKMNTY 
       610        620        630        640        650
MNSTTSKKDT GVQTDDLNIG IFTNAESHCG SLMERDITNC SSPEISAELI 
       660        670        680        690        700
GQFSTKKNKQ ELTQDKGASL EKENNRCNDQ CNQFTRIEKQ TKHMKKYPKR 
       710        720        730        740        750
PDWNINKPPK RYIPASEKYP KQLQKQREEK KVRRQMELLH LVEKNNPGHL 
       760        770        780        790        800
SQNRGISPEI FHSSHQETES KLRWHLVKKE EEPLNIHSFS KERSPSSPVP 
       810        820        830        840        850
VVKNRTQQTQ NTLHLPLKNS SYERENLISG SNQTELSSGI SESSHFIPYV 
       860        870        880        890        900
RTNEIYYLDP DAPLSGPSTQ DPQYQNSQDC GQKRQLFDSD CVRDPLLNPN 
       910        920        930        940 
MVKNRDRQQA ILKGLSELRQ GLLQKQKELE SSLLPLAENQ EESFGSSF
Length:948
Mass (Da):109,411
Last modified:March 3, 2009 - v4
<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:i2F7516E4C32C0310
GO
Isoform 2 (identifier: A2RUB6-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     272-287: DEQVALKKKEKEVSEK → VLQTVQAWYQHLLGFW
     288-948: Missing.

Show »
Length:287
Mass (Da):32,307
Checksum:iAD9045604723611A
GO
Isoform 3 (identifier: A2RUB6-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-34: Missing.

Show »
Length:914
Mass (Da):105,630
Checksum:i11E3CAF37D3F2AF6
GO
Isoform 4 (identifier: A2RUB6-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-34: Missing.
     231-948: Missing.

Show »
Length:196
Mass (Da):21,735
Checksum:i556250D8CECAF6C8
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 5 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
C9JYB8C9JYB8_HUMAN
Coiled-coil domain-containing prote...
CCDC66
633Annotation 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>
F8WDJ0F8WDJ0_HUMAN
Coiled-coil domain-containing prote...
CCDC66
287Annotation 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>
F8WCY0F8WCY0_HUMAN
Coiled-coil domain-containing prote...
CCDC66
230Annotation 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>
F2Z2K6F2Z2K6_HUMAN
Coiled-coil domain-containing prote...
CCDC66
60Annotation 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>
F8WB87F8WB87_HUMAN
Coiled-coil domain-containing prote...
CCDC66
38Annotation 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>

<p>This subsection of the 'Sequence' section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence AAH47509 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
The sequence AAI32828 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
The sequence BAC04607 differs from that shown. Reason: Frameshift.Curated

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 conflicti104C → Y in BAC04607 (PubMed:14702039).Curated1
Sequence conflicti605T → TS in AAI32828 (PubMed:15489334).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_039111383Q → R2 PublicationsCorresponds to variant dbSNP:rs1491170Ensembl.1
Natural variantiVAR_039112460R → Q2 PublicationsCorresponds to variant dbSNP:rs7637449Ensembl.1
Natural variantiVAR_039113592E → K. Corresponds to variant dbSNP:rs4681904Ensembl.1
Natural variantiVAR_080466592E → Q1 PublicationCorresponds to variant dbSNP:rs4681904Ensembl.1
Natural variantiVAR_080467681C → Y1 PublicationCorresponds to variant dbSNP:rs758090911Ensembl.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_0365451 – 34Missing in isoform 3 and isoform 4. 2 PublicationsAdd BLAST34
Alternative sequenceiVSP_036546231 – 948Missing in isoform 4. 1 PublicationAdd BLAST718
Alternative sequenceiVSP_031586272 – 287DEQVA…EVSEK → VLQTVQAWYQHLLGFW in isoform 2. 1 PublicationAdd BLAST16
Alternative sequenceiVSP_031587288 – 948Missing in isoform 2. 1 PublicationAdd BLAST661

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
AK095688 mRNA Translation: BAC04607.1 Frameshift.
AK125303 mRNA Translation: BAG54180.1
AC098478 Genomic DNA No translation available.
AC099781 Genomic DNA No translation available.
BC047509 mRNA Translation: AAH47509.1 Different initiation.
BC132827 mRNA Translation: AAI32828.2 Different initiation.

The Consensus CDS (CCDS) project

More...CCDSi		CCDS33770.2 [A2RUB6-3]
CCDS46852.1 [A2RUB6-1]

NCBI Reference Sequences

More...RefSeqi		NP_001012524.4, NM_001012506.4 [A2RUB6-3]
NP_001135419.1, NM_001141947.1 [A2RUB6-1]
XP_016861723.1, XM_017006234.1
XP_016861724.1, XM_017006235.1

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000326595; ENSP00000326050; ENSG00000180376 [A2RUB6-3]
ENST00000394672; ENSP00000378167; ENSG00000180376 [A2RUB6-1]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		285331

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:285331

UCSC genome browser

More...UCSCi		uc003dhu.4, human [A2RUB6-1]

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
AK095688 mRNA Translation: BAC04607.1 Frameshift.
AK125303 mRNA Translation: BAG54180.1
AC098478 Genomic DNA No translation available.
AC099781 Genomic DNA No translation available.
BC047509 mRNA Translation: AAH47509.1 Different initiation.
BC132827 mRNA Translation: AAI32828.2 Different initiation.
CCDSiCCDS33770.2 [A2RUB6-3]
CCDS46852.1 [A2RUB6-1]
RefSeqiNP_001012524.4, NM_001012506.4 [A2RUB6-3]
NP_001135419.1, NM_001141947.1 [A2RUB6-1]
XP_016861723.1, XM_017006234.1
XP_016861724.1, XM_017006235.1

3D structure databases

SMRiA2RUB6
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi130082, 20 interactors
IntActiA2RUB6, 16 interactors
STRINGi9606.ENSP00000378167

PTM databases

iPTMnetiA2RUB6
PhosphoSitePlusiA2RUB6

Genetic variation databases

BioMutaiCCDC66

Proteomic databases

EPDiA2RUB6
jPOSTiA2RUB6
MassIVEiA2RUB6
MaxQBiA2RUB6
PaxDbiA2RUB6
PeptideAtlasiA2RUB6
PRIDEiA2RUB6
ProteomicsDBi507 [A2RUB6-1]
508 [A2RUB6-2]
509 [A2RUB6-3]
510 [A2RUB6-4]
TopDownProteomicsiA2RUB6-4 [A2RUB6-4]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		31476, 99 antibodies

The DNASU plasmid repository

More...DNASUi		285331

Genome annotation databases

EnsembliENST00000326595; ENSP00000326050; ENSG00000180376 [A2RUB6-3]
ENST00000394672; ENSP00000378167; ENSG00000180376 [A2RUB6-1]
GeneIDi285331
KEGGihsa:285331
UCSCiuc003dhu.4, human [A2RUB6-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		285331
DisGeNETi285331

GeneCards: human genes, protein and diseases

More...GeneCardsi		CCDC66
HGNCiHGNC:27709, CCDC66
HPAiENSG00000180376, Low tissue specificity
neXtProtiNX_A2RUB6
OpenTargetsiENSG00000180376
PharmGKBiPA143485418
VEuPathDBiHostDB:ENSG00000180376.16

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiENOG502R1PQ, Eukaryota
GeneTreeiENSGT00390000012411
HOGENOMiCLU_016964_0_0_1
InParanoidiA2RUB6
OMAiKNSNYER
OrthoDBi1468611at2759
PhylomeDBiA2RUB6
TreeFamiTF350489

Enzyme and pathway databases

PathwayCommonsiA2RUB6

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		285331, 11 hits in 877 CRISPR screens

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

More...ChiTaRSi		CCDC66, human

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

More...GenomeRNAii		285331
PharosiA2RUB6, Tdark

Protein Ontology

More...PROi		PR:A2RUB6
RNActiA2RUB6, protein

Gene expression databases

BgeeiENSG00000180376, Expressed in sural nerve and 193 other tissues
ExpressionAtlasiA2RUB6, baseline and differential
GenevisibleiA2RUB6, HS

Family and domain databases

InterProiView protein in InterPro
IPR039183, CCD66
IPR040467, CCDC66_dom
PANTHERiPTHR22736, PTHR22736, 1 hit
PfamiView protein in Pfam
PF15236, CCDC66, 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 nameiCCD66_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: A2RUB6
Secondary accession number(s): B3KWL8, Q4VC34, Q8N949
<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 26, 2008
Last sequence update: March 3, 2009
Last modified: February 10, 2021
This is version 105 of the entry and version 4 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 variants curated from literature reports
    Index of human variants curated from literature reports
  2. Human chromosome 3
    Human chromosome 3: entries, gene names and cross-references to MIM
  3. Human entries with genetic variants
    List of human entries with genetic variants
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