RSPH6A Gene
protein-coding GIFtS: 44
GCID: GC19M046298
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radial spoke head 6 homolog A (Chlamydomonas)(Previous name: radial spokehead-like 1 )
(Previous symbol: RSHL1)
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Aliases
for RSPH6A gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Radial Spoke Head 6 Homolog A (Chlamydomonas)1 2 | | Radial Spokehead-Like 11 2 | | RSHL11 2 3 5 | | Radial Spoke Head-Like Protein 12 3 | | RSP41 2 | | Ortholog Of Mouse Radial Spokehead-Like 12 | | RSP61 2 | | Radial Spoke Head Protein 6 Homolog A2 | | RSPH4B1 2 | | |
Export aliases for RSPH6A gene to outside databasesPrevious GC identifers: GC19M050991 GC19M042727 |
Summaries
for RSPH6A gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for RSPH6A:
The protein encoded by this gene is similar to a sea urchin radial spoke head protein. Radial spoke protein complexesform part of the axoneme of eukaryotic flagella and are located between the axoneme's outer ring of doubletmicrotubules and central pair of microtubules. In Chlamydomonas, radial spoke proteins are thought to regulate theactivity of dynein and the symmetry of flagellar bending patterns. This gene maps to a region of chromosome 19 that islinked to primary ciliary dyskinesia-2 (CILD2). (provided by RefSeq, Jul 2008)
Gene Wiki entry for RSPH6A
|
Genomic Views
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 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000019.9 NC_018930.1 NT_011109.16
Regulatory elements:
 Search SABiosciences Regulatory transcription factor binding sites for RSPH6A
Other transcription factors
Search SABiosciences Chromatin IP Primers for RSPH6A
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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: 19q13.3RSPH6A Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 19 GeneLoc Exon Structure GeneLoc location for GC19M046298: view genomic region
(about GC identifiers)
Start:
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46,298,968 bp from pter |
End:
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46,318,605 bp from pter |
Size:
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19,638 bases |
Orientation:
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minus strand |
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Proteins
for RSPH6A gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
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, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
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 Q6PEZ9Explore the universe of human proteins at neXtProt for RSPH6A: NX_Q9H0K4
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q9H0K4
RSPH6A Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_110412.1
ENSEMBL proteins: ENSP00000221538
Human Recombinant Protein Products:
Gene Ontology (GO): 1 cellular component term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0005622 | intracellular |
IDA | -- |
RSPH6A for ontologies About GeneDecksing
RSPH6A Antibody Products:
Assay Products for RSPH6A: |
Protein
Domains /
Families
for RSPH6A gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
RSPH6A for domains About GeneDecksing
1 InterPro domain/family:Graphical View of Domain Structure for InterPro Entry Q9H0K4ProtoNet protein and cluster: Q9H0K4 UniProtKB/Swiss-Prot: RSH6A_HUMAN, Q9H0K4Similarity: Belongs to the flagellar radial spoke RSP4/6 family |
Function
for RSPH6A gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for RSPH6A (see all 4)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for RSPH6A
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In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RSPH6A |
|
Pathways & Interactions
for RSPH6A gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
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 Mar 2013 via
Entrez Gene).
About This Section
|
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for RSPH6A
|
Drugs & Compounds
for RSPH6A gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
 Browse Tocris compounds for RSPH6A
Search CenterWatch for drugs/clinical trials and news about RSPH6A / RSH6A
|
Transcripts
for RSPH6A gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 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,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
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_0307851 Ensembl transcript including schematic representation, and UCSC links where relevant: ENST00000221538(uc002pdl.3 uc002pdm.3)
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for RSPH6A (see all 4)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for RSPH6A
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
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Additional cDNA 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: NM_030785 AK093068 BC057785 BX093848 AX747899 AL136761 AK098837 BP370406 AI125323 BI460741 CD171734
GeneLoc Exon Structure
|
Expression
for RSPH6A gene
(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™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| RSPH6A expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GATTATATTT
About this image
See RSPH6A Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for RSPH6A
SOURCE GeneReport for Unigene cluster: Hs.146544
SABiosciences Custom PCR Arrays for RSPH6A
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for RSPH6A
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat RSPH6A | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat RSPH6A | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat RSPH6A | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RSPH6A |
Orthologs
for RSPH6A gene
(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)
About This Section
|
This gene was present in the common ancestor of animals.
Orthologs for RSPH6A gene from 3/16 species (see all 16) 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 |
80.15(n)1
78.9(a)1 |
|
7 (9.46 cM)5
834341 NM_031255.21 NP_112545.21
190546905 |
zebrafish
(Danio rerio) |
Actinopterygii |
rsph4a6 |
radial spoke head 4 homolog A (Chlamydomonas) |
54(a) |
1 → many |
5(64980990-64992633) |
fruit fly
(Drosophila melanogaster) |
Insecta |
CG31216 |
-- |
24(a) |
1 → many |
2R(19904944-19907418) |
ENSEMBL Gene Tree for RSPH6A (if available)
TreeFam Gene Tree for RSPH6A (if available) |
Paralogs
for RSPH6A gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for RSPH6A gene
- RSPH4A2
2 SIMAP similar genes for RSPH6A using alignment to 3 protein entries: RSH6A_HUMAN (see all proteins):RSHL1 RSPH4A
RSPH6A for paralogs About GeneDecksing
|
Genomic Variants
for RSPH6A gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, 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) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 19 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for RSPH6A (46298968 - 46318605 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for RSPH6A: -- | SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing RSPH6A |
|
Disorders
/ Diseases
for RSPH6A gene
(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.)
About This Section
|
RSPH6A for disorders About GeneDecksing
OMIM gene information: 607548
OMIM disorders: --
3  diseases for RSPH6A: About MalaCardsprimary ciliary dyskinesia ciliary dyskinesia myotonic dystrophy
1 disease from the University of Copenhagen DISEASES database for RSPH6A:Primary ciliary dyskinesia Export disorders for RSPH6A gene to outside databases
|
Publications
for RSPH6A gene (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)
About This Section
|
PubMed articles for RSPH6A gene, integrated from 9 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 |
- A mammalian radial spokehead-like gene, RSHL1, at the myotonic dystrophy-1 locus. (PubMed id 11237735)1, 3, 9 Eriksson M....Carey N. (2001)
- 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. (2001)
- GWAS for discovery and replication of genetic loci as sociated with sudden cardiac arrest in patients with coronary artery disease. (PubMed id 21658281)1 Aouizerat B.E....Tseng Z.H. (2011)
- A germline-specific class of small RNAs binds mammali an Piwi proteins. (PubMed id 16751776)1 Girard A....Carmell M.A. (2006)
- The LIFEdb database in 2006. (PubMed id 16381901)1 Mehrle A....Wiemann S. (2006)
- Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (2006)
- 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. (2004)
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1 Ota T.... Sugano S. (2004)
- From ORFeome to biology: a functional genomics pipeline. (PubMed id 15489336)1 Wiemann S....Poustka A. (2004)
- 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. (2002)
|
External Searches for RSPH6A gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
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Genome Databases showing RSPH6A gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing RSPH6A gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing RSPH6A gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
| Name | Description |
| PharmGKB entry for RSPH6A | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| 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
|
Products
for RSPH6A gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section
|
 | |
 | |
 |
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 | | | RSPH6A Proteins, Antibodies, CLIAs, and ELISAs |
| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RSPH6A |
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