RSPH3 radial spoke head 3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: RSPH3provided by HGNC
Official Full Name: radial spoke head 3provided by HGNC
Primary source: HGNC:HGNC:21054
See related: Ensembl:ENSG00000130363 MIM:615876; AllianceGenome:HGNC:21054
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: RSP3; RSHL2; CILD32; dJ111C20.1
Summary: The protein encoded by this gene acts as a protein kinase A anchoring protein. Mutations in this gene cause primary ciliary dyskinesia; a disorder characterized by defects of the axoneme in motile cilia and sperm flagella. The homolog of this gene was first identified in the blue-green algae Chlamydomonas as encoding a radial spoke protein that formed a structural component of motile cilia and flagella. Alternate splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Dec 2016]
Expression: Ubiquitous expression in thyroid (RPKM 4.1), testis (RPKM 3.3) and 25 other tissues See more
Orthologs: all
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Genomic context

Location:: 6q25.3

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (158962980..159000202, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (160212959..160245813, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (159393903..159421234, complement)

Chromosome 6 - NC_000006.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Patients with severe asthenoteratospermia carrying SPAG6 or RSPH3 mutations have a positive pregnancy outcome following intracytoplasmic sperm injection.
Title: Patients with severe asthenoteratospermia carrying SPAG6 or RSPH3 mutations have a positive pregnancy outcome following intracytoplasmic sperm injection.
RSPH3 Mutations Cause Primary Ciliary Dyskinesia with Central-Complex Defects and a Near Absence of Radial Spokes.
Title: RSPH3 Mutations Cause Primary Ciliary Dyskinesia with Central-Complex Defects and a Near Absence of Radial Spokes.
Radial spoke protein 3 is a mammalian protein kinase A-anchoring protein that binds ERK1/2.
Title: Radial spoke protein 3 is a mammalian protein kinase A-anchoring protein that binds ERK1/2.

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

Associated conditions

Description	Tests
Primary ciliary dyskinesia 32 MedGen: C4225311 OMIM: 616481 GeneReviews: Not available	not available

EBI GWAS Catalog

Description
Genome-wide interaction study of smoking and bladder cancer risk. 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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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Component	Evidence Code	Pubs
located_in 9+2 motile cilium	ISS Inferred from Sequence or Structural Similarity more info
is_active_in cilium	IBA Inferred from Biological aspect of Ancestor more info
located_in cilium	IDA Inferred from Direct Assay more info	PubMed
part_of radial spoke head	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: radial spoke head protein 3 homolog

Names: A-kinase anchor protein RSPH3; radial spoke 3 homolog; radial spoke head 3 homolog; radial spoke head-like protein 2

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.

Genomic

NG_051819.2 RefSeqGene

Range

5000..32331

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001346418.1 → NP_001333347.1 radial spoke head protein 3 homolog isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks two exons in the central coding region, compared to variant 1, which results in a shorter isoform (2), compared to isoform 1.

Source sequence(s)

AI028007, AK057655, AK057931, AL035530

UniProtKB/Swiss-Prot

Q86UC2, Q96LQ5, Q96LX2, Q9BX75
NM_031924.8 → NP_114130.4 radial spoke head protein 3 homolog isoform 1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1).

Source sequence(s)

AF353618, AL035530

Consensus CDS

CCDS5260.2

UniProtKB/TrEMBL

A0A0C4DFU3

Related

ENSP00000356036.1, ENST00000367069.7

Conserved Domains (1) summary

pfam06098
Location:46 → 326

Radial_spoke_3; Radial spoke protein 3

RNA

NR_144434.1 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (3) contains an alternate intron in the 3' UTR, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AI028007, AL035530