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RSPH4A radial spoke head component 4A [ Homo sapiens (human) ]

Gene ID: 345895, updated on 17-Jun-2019

Summary

Official Symbol
RSPH4Aprovided by HGNC
Official Full Name
radial spoke head component 4Aprovided by HGNC
Primary source
HGNC:HGNC:21558
See related
Ensembl:ENSG00000111834 MIM:612647
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
RSHL3; CILD11; RSPH6B; dJ412I7.1
Summary
This gene encodes a protein that appears to be a component the radial spoke head, as determined by homology to similar proteins in the biflagellate alga Chlamydomonas reinhardtii and other ciliates. Radial spokes, which are regularly spaced along cilia, sperm, and flagella axonemes, consist of a thin 'stalk' and a bulbous 'head' that form a signal transduction scaffold between the central pair of microtubules and dynein. Mutations in this gene cause primary ciliary dyskinesia 1, a disease arising from dysmotility of motile cilia and sperm. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]
Expression
Biased expression in lung (RPKM 1.6), testis (RPKM 0.8) and 13 other tissues See more
Orthologs

Genomic context

See RSPH4A in Genome Data Viewer
Location:
6q22.1
Exon count:
7
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (116598184..116633051)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (116937642..116954148)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene trafficking protein particle complex 3 like Neighboring gene calcium homeostasis modulator family member 4 Neighboring gene RWD domain containing 1 Neighboring gene zinc finger containing ubiquitin peptidase 1 Neighboring gene karyopherin subunit alpha 5

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 FunctionsWhat's a GeneRIF?

General gene information

Homology

Clone Names

  • FLJ37974, MGC126303

Gene Ontology Provided by GOA

Function Evidence Code Pubs
molecular_function ND
No biological Data available
more info
 
Process Evidence Code Pubs
axoneme assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
cilium movement IMP
Inferred from Mutant Phenotype
more info
PubMed 
cilium movement involved in cell motility IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
axoneme IC
Inferred by Curator
more info
PubMed 
axoneme IDA
Inferred from Direct Assay
more info
PubMed 
motile cilium IC
Inferred by Curator
more info
PubMed 
nucleolus IDA
Inferred from Direct Assay
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleus IDA
Inferred from Direct Assay
more info
 
radial spoke ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

Preferred Names
radial spoke head protein 4 homolog A
Names
radial spoke head 4 homolog A
radial spoke head-like protein 3
radial spokehead-like 3

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_012934.1 RefSeqGene

    Range
    5001..21507
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001010892.3NP_001010892.1  radial spoke head protein 4 homolog A isoform 1

    See identical proteins and their annotated locations for NP_001010892.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AK095293, AK299754, CB851663
    Consensus CDS
    CCDS34521.1
    UniProtKB/Swiss-Prot
    Q5TD94
    UniProtKB/TrEMBL
    B3KTA9
    Related
    ENSP00000229554.5, ENST00000229554.9
    Conserved Domains (1) summary
    pfam04712
    Location:211693
    Radial_spoke; Radial spokehead-like protein
  2. NM_001161664.1NP_001155136.1  radial spoke head protein 4 homolog A isoform 2

    See identical proteins and their annotated locations for NP_001155136.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) is missing an exon in the 3' coding region compared to variant 1. This results in a frame-shift, and a shorter isoform (2) with a distinct C-terminus compared to isoform 1.
    Source sequence(s)
    AK299754, BC106949, CB851663
    Consensus CDS
    CCDS55051.1
    UniProtKB/Swiss-Prot
    Q5TD94
    Related
    ENSP00000357570.4, ENST00000368581.8
    Conserved Domains (2) summary
    pfam04712
    Location:211554
    Radial_spoke; Radial spokehead-like protein
    cl26386
    Location:18217
    DNA_pol3_gamma3; DNA polymerase III subunits gamma and tau domain III

RefSeqs of Annotated Genomes: Homo sapiens 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
    116598184..116633051
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017010826.1XP_016866315.1  radial spoke head protein 4 homolog A isoform X1

    UniProtKB/Swiss-Prot
    Q5TD94
    Conserved Domains (2) summary
    pfam04712
    Location:211554
    Radial_spoke; Radial spokehead-like protein
    cl26386
    Location:18217
    DNA_pol3_gamma3; DNA polymerase III subunits gamma and tau domain III
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