RSPH4A

GENE INFORMATION

? »

Gene name

RSPH4A (HGNC Symbol)

Synonyms

CILD11, dJ412I7.1, FLJ37974, RSHL3, RSPH6B

Description

Radial spoke head 4 homolog A (Chlamydomonas) (HGNC Symbol)

Entrez gene 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]

Chromosome

6

Cytoband

q22.1

Chromosome location (bp)

116937642 - 116954148

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000111834 (version 75.37)

Entrez gene

345895

UniProt

Q5TD94 (UniProt - Evidence at protein level)

neXtProt

NX_Q5TD94

Antibodypedia

RSPH4A antibodies
 

PROTEIN VIEW

? »
 
 
 
RSPH4A-001
 
RSPH4A-002
 
RSPH4A-201
 
 
 
 
 

PROTEIN INFORMATION

? »

Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

RSPH4A-001 ENSP00000357569
ENST00000368580
Q5TD94
Show all »
Show » Show » 469 52.6 No 0
RSPH4A-002 ENSP00000229554
ENST00000229554
Q5TD94
Show all »
Show » Show » 716 80.7 No 0
RSPH4A-201 ENSP00000357570
ENST00000368581
Q5TD94
Show all »
Show » Show » 600 67.4 No 0