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

Gene ID: 83861, updated on 7-Jun-2020

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
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

Genomic context

See RSPH3 in Genome Data Viewer
Location:
6q25.3
Exon count:
11
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (158947012..159000426, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (159398077..159421424, complement)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene YKT6 v-SNARE homolog (S. cerevisiae) pseudogene Neighboring gene RNA, U6 small nuclear 293, pseudogene Neighboring gene uncharacterized LOC105378083 Neighboring gene uncharacterized LOC107986664 Neighboring gene T cell activation RhoGTPase activating protein Neighboring gene uncharacterized LOC112267968

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

Bibliography

Phenotypes

Associated conditions

Description Tests
Ciliary dyskinesia, primary, 32
MedGen: C4225311 OMIM: 616481 GeneReviews: Not available
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NHGRI GWAS Catalog

Description
Genome-wide interaction study of smoking and bladder cancer risk.
NHGRI GWA Catalog

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 
Component Evidence Code Pubs
cilium IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm IEA
Inferred from Electronic Annotation
more info
 
cytoskeleton IEA
Inferred from Electronic Annotation
more info
 

General protein information

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)

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

  1. NG_051819.1 RefSeqGene

    Range
    4986..32317
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001346418.1NP_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
  2. NM_031924.8NP_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
    CCDS5260.1
    Related
    ENSP00000252655.1, ENST00000252655.1

RNA

  1. 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
    Related
    ENST00000367069.7

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p13 Primary Assembly

    Range
    158947012..159000426 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024446566.1XP_024302334.1  radial spoke head protein 3 homolog isoform X1

    Conserved Domains (1) summary
    pfam06098
    Location:1196
    Radial_spoke_3; Radial spoke protein 3
  2. XM_017011347.2XP_016866836.1  radial spoke head protein 3 homolog isoform X1

    Conserved Domains (1) summary
    pfam06098
    Location:1196
    Radial_spoke_3; Radial spoke protein 3

RNA

  1. XR_001743669.2 RNA Sequence

  2. XR_001743668.2 RNA Sequence

  3. XR_001743670.2 RNA Sequence

  4. XR_001743671.2 RNA Sequence

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