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    RSPH6A radial spoke head 6 homolog A [ Homo sapiens (human) ]

    Gene ID: 81492, updated on 2-Nov-2024

    Summary

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    Official Symbol
    RSPH6Aprovided by HGNC
    Official Full Name
    radial spoke head 6 homolog Aprovided by HGNC
    Primary source
    HGNC:HGNC:14241
    See related
    Ensembl:ENSG00000104941 MIM:607548; AllianceGenome:HGNC:14241
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    RSP4; RSP6; RSHL1; RSPH4B
    Summary
    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]
    Expression
    Restricted expression toward testis (RPKM 14.9) See more
    Orthologs
    mouse all
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    Genomic context

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    See RSPH6A in Genome Data Viewer
    Location:
    19q13.32
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (45795713..45815308, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (48623189..48642749, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (46298971..46318566, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene origin of replication in DMPK trinucleotide repeat region Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14818 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14819 Neighboring gene dystrophia myotonica protein kinase repeat instability region Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10796 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14820 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10797 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:46274849-46275406 Neighboring gene DM1 locus antisense RNA Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:46280233-46280966 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10798 Neighboring gene DM1 protein kinase Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14821 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14822 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10799 Neighboring gene DM1 locus, WD repeat containing Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:46304143-46305004 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr19:46313062-46314261 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14823 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10800 Neighboring gene symplekin scaffold protein Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:46329961-46330728 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:46365430-46366068 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14824 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10801 Neighboring gene forkhead box A3

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. A mammalian radial spokehead-like gene, RSHL1, at the myotonic dystrophy-1 locus. Eriksson M, et al. Biochem Biophys Res Commun, 2001 Mar 9. PMID 11237735
    2. GWAS for discovery and replication of genetic loci associated with sudden cardiac arrest in patients with coronary artery disease. Aouizerat BE, et al. BMC Cardiovasc Disord, 2011 Jun 10. PMID 21658281, Free PMC Article
    3. Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing. Simpson JC, et al. EMBO Rep, 2000 Sep. PMID 11256614, Free PMC Article
    4. A germline-specific class of small RNAs binds mammalian Piwi proteins. Girard A, et al. Nature, 2006 Jul 13. PMID 16751776
    5. The LIFEdb database in 2006. Mehrle A, et al. Nucleic Acids Res, 2006 Jan 1. PMID 16381901, Free PMC Article

    See all (16) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    GWAS for discovery and replication of genetic loci associated with sudden cardiac arrest in patients with coronary artery disease.
    EBI GWAS Catalog

    Variation

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    See Variation Viewer (GRCh37.p13)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in axoneme assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in cilium movement IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in manchette disassembly ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in sperm flagellum assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    is_active_in axoneme IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of radial spoke head ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in sperm flagellum ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    radial spoke head protein 6 homolog A
    Names
    ortholog of mouse radial spokehead-like 1
    radial spoke head-like protein 1
    radial spokehead-like 1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_030785.4 → NP_110412.1  radial spoke head protein 6 homolog A

      See identical proteins and their annotated locations for NP_110412.1

      Status: REVIEWED

      Source sequence(s)
      BC057785, DB037465
      Consensus CDS
      CCDS12675.1
      UniProtKB/Swiss-Prot
      Q53FE2, Q6PEZ9, Q9H0K4
      UniProtKB/TrEMBL
      B9EGB4
      Related
      ENSP00000221538.2, ENST00000221538.8
      Conserved Domains (1) summary
      pfam04712
      Location:198 → 693
      Radial_spoke; Radial spokehead-like protein

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      45795713..45815308 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011527351.3 → XP_011525653.1  radial spoke head protein 6 homolog A isoform X1

      UniProtKB/TrEMBL
      M0R2K1
      Conserved Domains (1) summary
      pfam04712
      Location:198 → 639
      Radial_spoke; Radial spokehead-like protein

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      48623189..48642749 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054322245.1 → XP_054178220.1  radial spoke head protein 6 homolog A isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9H0K4.1 GenPept UniProtKB/Swiss-Prot:Q9H0K4

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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