RSPH6A

Radial spoke head protein 6 homolog A (RSPH6A) also known as radial spoke head-like protein 1 (RSHL1) is a protein that in humans is encoded by the RSPH6A gene.^[5][6]

RSPH6A
Identifiers
Aliases	RSPH6A, RSHL1, RSP4, RSP6, RSPH4B, radial spoke head 6 homolog A
External IDs	OMIM: 607548; MGI: 1927643; HomoloGene: 36476; GeneCards: RSPH6A; OMA:RSPH6A - orthologs
Gene location (Human) Chr. Chromosome 19 (human)[1] Band 19q13.32 Start 45,795,713 bp[1] End 45,815,308 bp[1]
Gene location (Mouse) Chr. Chromosome 7 (mouse)[2] Band 7|7 A3 Start 18,788,615 bp[2] End 18,808,372 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in left testis right testis right lobe of thyroid gland left lobe of thyroid gland human penis mucosa of nose human musculoskeletal system muscular system muscle muscle Top expressed in seminiferous tubule spermatid spermatocyte lumbar subsegment of spinal cord mucosa of small intestine primary visual cortex pancreas islet of Langerhans More reference expression data BioGPS More reference expression data
Orthologs Species Human Mouse Entrez 81492 83434 Ensembl ENSG00000104941 ENSMUSG00000040866 UniProt Q9H0K4 Q8CDR2 RefSeq (mRNA) NM_030785 NM_001159671 NM_031255 RefSeq (protein) NP_110412 NP_001153143 NP_112545 Location (UCSC) Chr 19: 45.8 – 45.82 Mb Chr 7: 18.79 – 18.81 Mb PubMed search [3] [4]
Wikidata
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Function

Radial spoke head protein 6 homolog A 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.^[6]

Clinical significance

The RSPH6A gene maps to a region of chromosome 19 that is linked to primary ciliary dyskinesia-2 (CILD2).^[6]