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

Gene ID: 83861, updated on 31-Oct-2022

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
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Genomic context

See RSPH3 in Genome Data Viewer
Location:
6q25.3
Exon count:
10
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (158962980..159000202, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (160218492..160245813, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (159393903..159421234, 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 TAGAP antisense RNA 1 Neighboring gene T cell activation RhoGTPase activating protein Neighboring gene uncharacterized LOC112267968 Neighboring gene uncharacterized LOC124901449

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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

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

EBI GWAS Catalog

Description
Genome-wide interaction study of smoking and bladder cancer risk.
EBI GWAS Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
is_active_in cilium IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in cilium IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
 
located_in 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)

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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

  1. NG_051819.2 RefSeqGene

    Range
    5000..32331
    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
    CCDS5260.2
    UniProtKB/TrEMBL
    A0A0C4DFU3
    Related
    ENSP00000356036.1, ENST00000367069.7
    Conserved Domains (1) summary
    pfam06098
    Location:46326
    Radial_spoke_3; Radial spoke protein 3

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

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

    Range
    158962980..159000202 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047419393.1XP_047275349.1  radial spoke head protein 3 homolog isoform X1

RNA

  1. XR_001743668.3 RNA Sequence

  2. XR_001743670.3 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060930.1 Alternate T2T-CHM13v2.0

    Range
    160218492..160245813 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)