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UniProtKB - O95995 (DRC4_HUMAN)

Entry version 139 (13 Feb 2019)
Sequence version 1 (01 May 1999)
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Protein

Dynein regulatory complex subunit 4

Gene

GAS8

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

Component of the nexin-dynein regulatory complex (N-DRC), a key regulator of ciliary/flagellar motility which maintains the alignment and integrity of the distal axoneme and regulates microtubule sliding in motile axonemes. Plays an important role in the assembly of the N-DRC linker (By similarity). Plays dual roles at both the primary (or non-motile) cilia to regulate hedgehog signaling and in motile cilia to coordinate cilia movement. Required for proper motile cilia functioning (PubMed:26387594, PubMed:27120127, PubMed:27472056). Positively regulates ciliary smoothened (SMO)-dependent Hedgehog (Hh) signaling pathway by faciltating the trafficking of SMO into the cilium and the stimulation of SMO activity in a GRK2-dependent manner (By similarity).By similarity3 Publications

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

  • microtubule binding Source: UniProtKB
  • Rab GTPase binding Source: GO_Central
View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-5635838 Activation of SMO

<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:
Dynein regulatory complex subunit 41 Publication
Alternative name(s):
Growth arrest-specific protein 11
Short name:
GAS-11
Growth arrest-specific protein 8
Short name:
GAS-8
<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:GAS8
Synonyms:DRC41 Publication, GAS11
<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 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_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 16

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...EuPathDBi		HostDB:ENSG00000141013.14

Human Gene Nomenclature Database

More...HGNCi		HGNC:4166 GAS8

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		605178 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_O95995

<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

<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>Keywords - Cellular componenti

Cell projection, Cilium, Cytoplasm, Cytoskeleton, Flagellum, Golgi apparatus, Microtubule

<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

Ciliary dyskinesia, primary, 33 (CILD33)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of primary ciliary dyskinesia, a disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. CILD33 inheritance is autosomal recessive.
See also OMIM:616726
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_080336183 – 478Missing in CILD33; loss of localization to cilia; abnormal cilia with axonemal disorganization. 1 PublicationAdd BLAST296
Natural variantiVAR_080337334 – 478Missing in CILD33; loss of localization to cilia; abnormal cilia with axonemal disorganization. 1 PublicationAdd BLAST145
Natural variantiVAR_080338391A → V in CILD33; the same mutation in the mouse sequence shows a moderate decrease in cilia motility. 1 PublicationCorresponds to variant dbSNP:rs147993982Ensembl.1

Keywords - Diseasei

Ciliopathy, Primary ciliary dyskinesia

Organism-specific databases

DisGeNET

More...DisGeNETi		2622

MalaCards human disease database

More...MalaCardsi		GAS8
MIMi616726 phenotype

Open Targets

More...OpenTargetsi		ENSG00000141013

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

More...Orphaneti		244 Primary ciliary dyskinesia

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA28579

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		GAS8

<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_00002203771 – 478Dynein regulatory complex subunit 4Add BLAST478

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		O95995

MaxQB - The MaxQuant DataBase

More...MaxQBi		O95995

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

More...PaxDbi		O95995

PeptideAtlas

More...PeptideAtlasi		O95995

PRoteomics IDEntifications database

More...PRIDEi		O95995

ProteomicsDB human proteome resource

More...ProteomicsDBi		51170

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		O95995

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

More...PhosphoSitePlusi		O95995

<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

Expressed in respiratory epithelial cells (at protein level) (PubMed:26387594). Expressed in the heart, skeletal muscle, pancreas, liver, brain, trachea and lung. Weakly or not expressed in placenta and kidney (PubMed:9790751).3 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000141013 Expressed in 203 organ(s), highest expression level in testis

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		O95995 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		O95995 HS

Organism-specific databases

Human Protein Atlas

More...HPAi		HPA041311
HPA048238

<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_section">'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_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Component of the nexin-dynein regulatory complex (N-DRC). Interacts with microtubules (By similarity). Interacts with SMO (PubMed:21659505). Interacts (via coiled-coil domains) with RAB3B (in GTP-bound form) (By similarity).By similarity1 Publication

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

WithEntry#Exp.IntActNotes
GRIPAP1Q4V3284EBI-1052570,EBI-717919

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...BioGridi		108892, 6 interactors

CORUM comprehensive resource of mammalian protein complexes

More...CORUMi		O95995

Protein interaction database and analysis system

More...IntActi		O95995, 109 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000268699

<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

More...ProteinModelPortali		O95995

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

More...SMRi		O95995

Database of comparative protein structure models

More...ModBasei		Search...

MobiDB: a database of protein disorder and mobility annotations

More...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

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni1 – 114Regulates microtubule-bindingBy similarityAdd BLAST114
Regioni115 – 258Microtubule-bindingBy similarityAdd BLAST144
Regioni357 – 478Interaction with SMO1 PublicationAdd BLAST122

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 coili242 – 427Sequence analysisAdd BLAST186

<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 DRC4 family.Curated

Keywords - Domaini

Coiled coil

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		ENOG410IE2T Eukaryota
ENOG410XPBD LUCA

Ensembl GeneTree

More...GeneTreei		ENSGT00390000009477

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		HOG000038763

The HOVERGEN Database of Homologous Vertebrate Genes

More...HOVERGENi		HBG039458

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		O95995

KEGG Orthology (KO)

More...KOi		K19942

Identification of Orthologs from Complete Genome Data

More...OMAi		AREEMSE

Database of Orthologous Groups

More...OrthoDBi		1257437at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		O95995

TreeFam database of animal gene trees

More...TreeFami		TF323819

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR039308 GAS8
IPR025593 GAS8_dom

The PANTHER Classification System

More...PANTHERi		PTHR31543 PTHR31543, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF13851 GAS, 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 (2+)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 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 5 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: O95995-1) [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
MAPKKKGKKG KAKGTPIVDG LAPEDMSKEQ VEEHVSRIRE ELDREREERN 
        60         70         80         90        100
YFQLERDKIH TFWEITRRQL EEKKAELRNK DREMEEAEER HQVEIKVYKQ 
       110        120        130        140        150
KVKHLLYEHQ NNLTEMKAEG TVVMKLAQKE HRIQESVLRK DMRALKVELK 
       160        170        180        190        200
EQELASEVVV KNLRLKHTEE ITRMRNDFER QVREIEAKYD KKMKMLRDEL 
       210        220        230        240        250
DLRRKTELHE VEERKNGQIH TLMQRHEEAF TDIKNYYNDI TLNNLALINS 
       260        270        280        290        300
LKEQMEDMRK KEDHLEREMA EVSGQNKRLA DPLQKAREEM SEMQKQLANY 
       310        320        330        340        350
ERDKQILLCT KARLKVREKE LKDLQWEHEV LEQRFTKVQQ ERDELYRKFT 
       360        370        380        390        400
AAIQEVQQKT GFKNLVLERK LQALSAAVEK KEVQFNEVLA ASNLDPAALT 
       410        420        430        440        450
LVSRKLEDVL ESKNSTIKDL QYELAQVCKA HNDLLRTYEA KLLAFGIPLD 
       460        470 
NVGFKPLETA VIGQTLGQGP AGLVGTPT
Length:478
Mass (Da):56,356
Last modified:May 1, 1999 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i2EDBC7981868EB12
GO
Isoform 2 (identifier: O95995-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-25: Missing.

Show »
Length:453
Mass (Da):53,809
Checksum:i2EAE549BCB61A155
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
A0A087WZT7A0A087WZT7_HUMAN
Dynein regulatory complex subunit 4
GAS8
395Annotation 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>
H3BP65H3BP65_HUMAN
Dynein regulatory complex subunit 4
GAS8
95Annotation 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>
H3BUA7H3BUA7_HUMAN
Dynein regulatory complex subunit 4
GAS8
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>
H3BQT7H3BQT7_HUMAN
Dynein regulatory complex subunit 4
GAS8
111Annotation 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>
H3BME0H3BME0_HUMAN
Dynein regulatory complex subunit 4
GAS8
35Annotation 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>

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 conflicti33E → G in BAH12677 (PubMed:14702039).Curated1
Sequence conflicti87A → V in BAH12677 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_080336183 – 478Missing in CILD33; loss of localization to cilia; abnormal cilia with axonemal disorganization. 1 PublicationAdd BLAST296
Natural variantiVAR_016006199E → K1 PublicationCorresponds to variant dbSNP:rs868044EnsemblClinVar.1
Natural variantiVAR_049230259R → Q. Corresponds to variant dbSNP:rs17178299Ensembl.1
Natural variantiVAR_080337334 – 478Missing in CILD33; loss of localization to cilia; abnormal cilia with axonemal disorganization. 1 PublicationAdd BLAST145
Natural variantiVAR_080338391A → V in CILD33; the same mutation in the mouse sequence shows a moderate decrease in cilia motility. 1 PublicationCorresponds to variant dbSNP:rs147993982Ensembl.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_0548051 – 25Missing in isoform 2. 1 PublicationAdd BLAST25

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
AF050079 mRNA Translation: AAC69519.1
AF050078
, AF050068, AF050069, AF050070, AF050071, AF050072, AF050073, AF050074, AF050075, AF050076, AF050077 Genomic DNA Translation: AAC69518.1
AK315261 mRNA Translation: BAG37678.1
AK297857 mRNA Translation: BAH12677.1
AC133919 Genomic DNA No translation available.
CH471184 Genomic DNA Translation: EAW66661.1
CH471184 Genomic DNA Translation: EAW66659.1
BC104785 mRNA Translation: AAI04786.1
BC112121 mRNA Translation: AAI12122.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS10992.1 [O95995-1]
CCDS67101.1 [O95995-2]

NCBI Reference Sequences

More...RefSeqi		NP_001273134.1, NM_001286205.1
NP_001273137.1, NM_001286208.1
NP_001273138.1, NM_001286209.1 [O95995-2]
NP_001472.1, NM_001481.2 [O95995-1]
XP_005256361.1, XM_005256304.4

UniGene gene-oriented nucleotide sequence clusters

More...UniGenei		Hs.431792

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000268699; ENSP00000268699; ENSG00000141013 [O95995-1]
ENST00000536122; ENSP00000440977; ENSG00000141013 [O95995-2]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		2622

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:2622

UCSC genome browser

More...UCSCi		uc002fqi.1 human [O95995-1]

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
AF050079 mRNA Translation: AAC69519.1
AF050078
, AF050068, AF050069, AF050070, AF050071, AF050072, AF050073, AF050074, AF050075, AF050076, AF050077 Genomic DNA Translation: AAC69518.1
AK315261 mRNA Translation: BAG37678.1
AK297857 mRNA Translation: BAH12677.1
AC133919 Genomic DNA No translation available.
CH471184 Genomic DNA Translation: EAW66661.1
CH471184 Genomic DNA Translation: EAW66659.1
BC104785 mRNA Translation: AAI04786.1
BC112121 mRNA Translation: AAI12122.1
CCDSiCCDS10992.1 [O95995-1]
CCDS67101.1 [O95995-2]
RefSeqiNP_001273134.1, NM_001286205.1
NP_001273137.1, NM_001286208.1
NP_001273138.1, NM_001286209.1 [O95995-2]
NP_001472.1, NM_001481.2 [O95995-1]
XP_005256361.1, XM_005256304.4
UniGeneiHs.431792

3D structure databases

ProteinModelPortaliO95995
SMRiO95995
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi108892, 6 interactors
CORUMiO95995
IntActiO95995, 109 interactors
STRINGi9606.ENSP00000268699

PTM databases

iPTMnetiO95995
PhosphoSitePlusiO95995

Polymorphism and mutation databases

BioMutaiGAS8

Proteomic databases

EPDiO95995
MaxQBiO95995
PaxDbiO95995
PeptideAtlasiO95995
PRIDEiO95995
ProteomicsDBi51170

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000268699; ENSP00000268699; ENSG00000141013 [O95995-1]
ENST00000536122; ENSP00000440977; ENSG00000141013 [O95995-2]
GeneIDi2622
KEGGihsa:2622
UCSCiuc002fqi.1 human [O95995-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		2622
DisGeNETi2622
EuPathDBiHostDB:ENSG00000141013.14

GeneCards: human genes, protein and diseases

More...GeneCardsi		GAS8

H-Invitational Database, human transcriptome db

More...H-InvDBi		HIX0202326
HGNCiHGNC:4166 GAS8
HPAiHPA041311
HPA048238
MalaCardsiGAS8
MIMi605178 gene
616726 phenotype
neXtProtiNX_O95995
OpenTargetsiENSG00000141013
Orphaneti244 Primary ciliary dyskinesia
PharmGKBiPA28579

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiENOG410IE2T Eukaryota
ENOG410XPBD LUCA
GeneTreeiENSGT00390000009477
HOGENOMiHOG000038763
HOVERGENiHBG039458
InParanoidiO95995
KOiK19942
OMAiAREEMSE
OrthoDBi1257437at2759
PhylomeDBiO95995
TreeFamiTF323819

Enzyme and pathway databases

ReactomeiR-HSA-5635838 Activation of SMO

Miscellaneous databases

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

More...ChiTaRSi		GAS8 human

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

More...GenomeRNAii		2622

Protein Ontology

More...PROi		PR:O95995

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000141013 Expressed in 203 organ(s), highest expression level in testis
ExpressionAtlasiO95995 baseline and differential
GenevisibleiO95995 HS

Family and domain databases

InterProiView protein in InterPro
IPR039308 GAS8
IPR025593 GAS8_dom
PANTHERiPTHR31543 PTHR31543, 1 hit
PfamiView protein in Pfam
PF13851 GAS, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		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 nameiDRC4_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: O95995
Secondary accession number(s): B2RCT1
, B7Z4U1, G3V1L5, Q2M234
<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: July 19, 2003
Last sequence update: May 1, 1999
Last modified: February 13, 2019
This is version 139 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 16
    Human chromosome 16: entries, gene names and cross-references to MIM
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  5. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
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