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

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; 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

Location:: 19q13.32

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2023_03	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (45795713..45815308, complement)
RS_2023_03	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_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Submit: New GeneRIF Correction

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 EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH11655 (e-PCR)
- UniSTS:35107

D19S207 (e-PCR)
- UniSTS:147296

Homology

Orthologs from Annotation Pipeline: 200 organisms have orthologs with human gene RSPH6A
Orthologs

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	PubMed
involved_in cilium movement	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in cilium movement involved in cell motility	IEA Inferred from Electronic Annotation more info
involved_in manchette disassembly	ISS Inferred from Sequence or Structural Similarity more info
involved_in motile cilium 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	PubMed
part_of radial spoke head	IEA Inferred from Electronic Annotation 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)

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

Q6PEZ9, Q9H0K4

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_03

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000019.10 Reference GRCh38.p14 Primary Assembly

Range

45795713..45815308 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

Conserved Domains (1) summary

pfam04712
Location:198 → 639

Radial_spoke; Radial spokehead-like protein