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

Gene ID: 81492, updated on 3-Apr-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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Location:
19q13.32
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (45795713..45815308, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (48623189..48642749, complement)
105.20220307 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
  • 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 variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

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_2023_10

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

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