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

Gene ID: 81492, updated on 2-Mar-2021

Summary

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
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
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Genomic context

See RSPH6A in Genome Data Viewer
Location:
19q13.32
Exon count:
6
Annotation release Status Assembly Chr Location
109.20210226 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (45795713..45815342, complement)
105.20201022 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 dystrophia myotonica protein kinase repeat instability region Neighboring gene DM1 locus antisense RNA Neighboring gene DM1 protein kinase Neighboring gene DM1 locus, WD repeat containing Neighboring gene symplekin Neighboring gene forkhead box A3

Genomic regions, transcripts, and products

Expression

  • 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

Phenotypes

Associated conditions

Description Tests
GWAS for discovery and replication of genetic loci associated with sudden cardiac arrest in patients with coronary artery disease.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
axoneme assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cilium movement IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cilium movement involved in cell motility IEA
Inferred from Electronic Annotation
more info
 
manchette disassembly ISS
Inferred from Sequence or Structural Similarity
more info
 
motile cilium assembly ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
axoneme IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
radial spoke IEA
Inferred from Electronic Annotation
more info
 
sperm flagellum ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

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_030785.4NP_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
    Q9H0K4
    Related
    ENSP00000221538.2, ENST00000221538.8
    Conserved Domains (1) summary
    pfam04712
    Location:198693
    Radial_spoke; Radial spokehead-like protein

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210226

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p13 Primary Assembly

    Range
    45795713..45815342 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011527351.2XP_011525653.1  radial spoke head protein 6 homolog A isoform X1

    Conserved Domains (1) summary
    pfam04712
    Location:198639
    Radial_spoke; Radial spokehead-like protein
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