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

Gene ID: 345895, updated on 7-Aug-2014
Official Symbol
RSPH4Aprovided by HGNC
Official Full Name
radial spoke head 4 homolog A (Chlamydomonas)provided by HGNC
Primary source
HGNC:21558
See related
Ensembl:ENSG00000111834; HPRD:18005; MIM:612647; Vega:OTTHUMG00000015444
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]
See RSPH4A in Epigenomics, MapViewer
Location:
6q22.1
Exon count:
6
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 6 NC_000006.12 (116616411..116632985)
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 family with sequence similarity 26, member D Neighboring gene RWD domain containing 1 Neighboring gene zinc finger with UFM1-specific peptidase domain Neighboring gene karyopherin alpha 5 (importin alpha 6)

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

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 
Component Evidence Code Pubs
axoneme IC
Inferred by Curator
more info
PubMed 
cytoskeleton IEA
Inferred from Electronic Annotation
more info
 
motile cilium IC
Inferred by Curator
more info
PubMed 
nucleolus IDA
Inferred from Direct Assay
more info
 
NOT nucleolus 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
 
Preferred Names
radial spoke head protein 4 homolog A
Names
radial spoke head protein 4 homolog A
radial spokehead-like 3
radial spoke head-like protein 3

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 

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

mRNA and Protein(s)

  1. NM_001010892.2NP_001010892.1  radial spoke head protein 4 homolog A isoform 1

    See proteins identical to 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/TrEMBL
    B3KTA9
    UniProtKB/Swiss-Prot
    Q5TD94
    Related
    ENSP00000229554, OTTHUMP00000017071, ENST00000229554, OTTHUMT00000041960
    Conserved Domains (1) summary
    pfam04712
    Location:207694
    Blast Score: 1702
    Radial_spoke; Radial spokehead-like protein
  2. NM_001161664.1NP_001155136.1  radial spoke head protein 4 homolog A isoform 2

    See proteins identical to 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, ENST00000368581
    Conserved Domains (1) summary
    pfam04712
    Location:207563
    Blast Score: 1259
    Radial_spoke; Radial spokehead-like protein

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000006.12 

    Range
    116616411..116632985
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006715469.1XP_006715532.1  

    Conserved Domains (1) summary
    pfam04712
    Location:207565
    Blast Score: 1309
    Radial_spoke; Radial spokehead-like protein

Alternate HuRef

Genomic

  1. AC_000138.1 

    Range
    114517217..114533724
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018917.2 

    Range
    117201269..117217765
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)