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RSPH6A Gene

protein-coding   GIFtS: 44
GCID: GC19M046298

Radial Spoke Head 6 Homolog A (Chlamydomonas)

(Previous name: radial spokehead-like 1)
(Previous symbol: RSHL1)
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Radial Spoke Head 6 Homolog A (Chlamydomonas)1 2     RSP62
RSHL11 2 3 5     RSPH4B2
Radial Spokehead-Like 11 2     Ortholog Of Mouse Radial Spokehead-Like 12
Radial Spoke Head-Like Protein 12 3     Radial Spoke Head Protein 6 Homolog A2
RSP42     

External Ids:    HGNC: 142411   Entrez Gene: 814922   Ensembl: ENSG000001049417   OMIM: 6075485   UniProtKB: Q9H0K43   

Export aliases for RSPH6A gene to outside databases

Previous GC identifers: GC19M050991 GC19M042727


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for RSPH6A Gene:
The protein encoded by this gene is similar to a sea urchin radial spoke head protein. Radial spoke protein
complexes form part of the axoneme of eukaryotic flagella and are located between the axoneme's outer ring of
doublet microtubules and central pair of microtubules. In Chlamydomonas, radial spoke proteins are thought to
regulate the activity of dynein and the symmetry of flagellar bending patterns. This gene maps to a region of
chromosome 19 that is linked to primary ciliary dyskinesia-2 (CILD2). (provided by RefSeq, Jul 2008)

GeneCards Summary for RSPH6A Gene:
RSPH6A (radial spoke head 6 homolog A (Chlamydomonas)) is a protein-coding gene. An important paralog of this gene is RSPH4A.

Gene Wiki entry for RSPH6A Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000019.9  NC_018930.2  NT_011109.17  
Regulatory elements:
   Search for regulatory transcription factor binding sites for RSPH6A
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidRSPH6A promoter sequence
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Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat RSPH6A


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 19q13.3   Ensembl cytogenetic band:  19q13.32   HGNC cytogenetic band: 19q13.3

RSPH6A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RSPH6A gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19M046298:  view genomic region     (about GC identifiers)

Start:
46,298,968 bp from pter      End:
46,318,605 bp from pter
Size:
19,638 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
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UniProtKB/Swiss-Prot: RSH6A_HUMAN, Q9H0K4 (See protein sequence)
Recommended Name: Radial spoke head protein 6 homolog A  
Size: 717 amino acids; 80913 Da
Secondary accessions: Q53FE2 Q6PEZ9

Explore the universe of human proteins at neXtProt for RSPH6A: NX_Q9H0K4

Explore proteomics data for RSPH6A at MOPED


See RSPH6A Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_110412.1  
ENSEMBL proteins: 
 ENSP00000221538   ENSP00000471559   ENSP00000472630  

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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1 InterPro protein domain:
 IPR006802 Radial_spoke

Graphical View of Domain Structure for InterPro Entry Q9H0K4

ProtoNet protein and cluster: Q9H0K4

UniProtKB/Swiss-Prot: RSH6A_HUMAN, Q9H0K4
Similarity: Belongs to the flagellar radial spoke RSP4/6 family


Find genes that share domains with RSPH6A           About GenesLikeMe


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Animal Models:
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(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
cytosol2
nucleus2
extracellular1
golgi apparatus1

Gene Ontology (GO): 1 cellular component term:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005622intracellular IDA--

Find genes that share ontologies with RSPH6A           About GenesLikeMe


(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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Interactions:

    Search GeneGlobe Interaction Network for RSPH6A

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Tocris compounds for RSPH6A (RSH6A)



(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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REFSEQ mRNAs for RSPH6A gene: 
NM_030785.3  

Unigene Cluster for RSPH6A:

Radial spoke head 6 homolog A (Chlamydomonas)
Hs.146544  [show with all ESTs]
Unigene Representative Sequence: NM_030785
3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000221538(uc002pdl.3 uc002pdm.3) ENST00000600188 ENST00000597055

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Additional mRNA sequence: 

AK093068.1 AK098837.1 AK223347.1 AL136761.1 BC057785.1 BC136351.1 BC136352.1 BC144018.1 

2 DOTS entries:

DT.75125198  DT.100017297 

11 AceView cDNA sequences:

BC057785 NM_030785 BX093848 AL136761 AX747899 AK093068 BP370406 AI125323 
AK098837 BI460741 CD171734 

GeneLoc Exon Structure


(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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RSPH6A expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: GATTATATTT
RSPH6A Expression
About this image

RSPH6A Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

RSPH6A Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.146544
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(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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This gene was present in the common ancestor of animals.

Orthologs for RSPH6A gene from Selected species (see all 7)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Rsph6a1 , 5 radial spoke head 6 homolog A (Chlamydomonas)1, 5 79.85(n)1
78.52(a)1
  7 (9.46 cM)5
834341  NM_031255.21  NP_112545.21 
 190546905 
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii BX073998.12   -- 80.16(n)    BX073998.1 
fruit fly
(Drosophila melanogaster)
Insecta CG31216
--
25(a)
1 → many
2R(19904944-19907418)


ENSEMBL Gene Tree for RSPH6A (if available)
TreeFam Gene Tree for RSPH6A (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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Paralogs for RSPH6A gene
RSPH4A2  
2 SIMAP similar genes for RSPH6A using alignment to 3 protein entries:     RSH6A_HUMAN (see all proteins):
RSHL1    RSPH4A

Find genes that share paralogs with RSPH6A           About GenesLikeMe



(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Selected SNPs for RSPH6A (see all 547)    About this table                                 

Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 19 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs2022121901,2
Cuntested146317960(+) ACCTTC/TAGAGA 2 K E mis11Minor allele frequency- T:0.00EU 1323
rs724557671,2
C--42743493(+) ATTTG-/TAT   
  TATTAT
TATTA
1 -- int10--------
rs1932723351,2
--46298526(+) GACAGG/TCAGAT 1 -- ds50010--------
rs1392817611,2
--46298639(+) GCCTGC/TAGTCC 1 -- ds50010--------
rs360732771,2
C,F,H--46298677(+) AAAATA/GCAAAA 1 -- ds500110Minor allele frequency- G:0.03NS NA 1364
rs1500089511,2
--46298711(+) CCTGCA/GGTCTC 1 -- ds50010--------
rs1146265481,2
F--46298725(+) TACTCC/TGGAGG 1 -- ds50011Minor allele frequency- T:0.07WA 118
rs1425221711,2
C--46298975(+) ATGCCA/GTGGAG 1 -- ut310--------
rs1836934161,2
C--46299070(+) AACTAC/TCTCTA 1 -- ut311Minor allele frequency- T:0.00EU 1323
rs2020178301,2
--46299087(+) AATTTG/TCTATC 1 -- ut310--------

HapMap Linkage Disequilibrium report for RSPH6A (46298968 - 46318605 bp)

Structural Variations
     Database of Genomic Variants (DGV) 7 variations for RSPH6A:    About this table    
Variant IDTypeSubtypePubMed ID
esv2660293CNV Deletion23128226
esv2718642CNV Deletion23290073
dgv3957n71CNV Loss21882294
nsv912166CNV Loss21882294
dgv3954n71CNV Loss21882294
nsv912172CNV Loss21882294
dgv3956n71CNV Loss21882294

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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OMIM gene information: 607548    OMIM disorders: --

1 disease from the University of Copenhagen DISEASES database for RSPH6A:
Primary ciliary dyskinesia

Find genes that share disorders with RSPH6A           About GenesLikeMe

Genetic Association Database (GAD): RSPH6A

Export disorders for RSPH6A gene to outside databases

(in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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PubMed articles for RSPH6A gene, integrated from 10 sources (see all 13):
(articles sorted by number of sources associating them with RSPH6A)
    Utopia: connect your pdf to the dynamic
world of online information

  1. A mammalian radial spokehead-like gene, RSHL1, at the myotonic dystrophy-1 locus. (PubMed id 11237735)1, 3, 9 Eriksson M....Carey N. (Biochem. Biophys. Res. Commun. 2001)
  2. GWAS for discovery and replication of genetic loci associated with sudden cardiac arrest in patients with coronary artery disease. (PubMed id 21658281)1, 4 Aouizerat B.E....Tseng Z.H. (BMC Cardiovasc Disord 2011)
  3. Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PubMed id 11230166)1, 2 Wiemann S.... Poustka A. (Genome Res. 2001)
  4. A germline-specific class of small RNAs binds mammalian Piwi proteins. (PubMed id 16751776)1 Girard A....Carmell M.A. (Nature 2006)
  5. The LIFEdb database in 2006. (PubMed id 16381901)1 Mehrle A....Wiemann S. (Nucleic Acids Res. 2006)
  6. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (Genome Res. 2006)
  7. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S.... Malek J. (Genome Res. 2004)
  8. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1 Ota T.... Sugano S. (Nat. Genet. 2004)
  9. From ORFeome to biology: a functional genomics pipeline. (PubMed id 15489336)1 Wiemann S....Poustka A. (Genome Res. 2004)
  10. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)

(in PubMed, OMIM, and NCBI Bookshelf)
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 ANDOR
Aliases
Free Text  

  Query String
PubMed
OMIM
NCBI Bookshelf
  (Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 81492 HGNC: 14241 AceView: RSHL1 Ensembl:ENSG00000104941 euGenes: HUgn81492
ECgene: RSPH6A H-InvDB: RSPH6A

(According to HUGE)
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  --

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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NameDescription
PharmGKB entry for RSPH6A Pharmacogenomics, SNPs, Pathways

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
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Patent Information for RSPH6A gene:
Search GeneIP for patents involving RSPH6A

GeneCards and IP:
Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from genOway)
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GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014 , 7 Oct 2014

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