RSPH4A

Last updated
RSPH4A
Identifiers
Aliases RSPH4A , CILD11, RSHL3, RSPH6B, dJ412I7.1, radial spoke head 4 homolog A, radial spoke head component 4A
External IDs OMIM: 612647 MGI: 3027894 HomoloGene: 71779 GeneCards: RSPH4A
Orthologs
SpeciesHumanMouse
Entrez

345895

212892

Ensembl

ENSG00000111834

ENSMUSG00000039552

UniProt

Q5TD94

Q8BYM7

RefSeq (mRNA)

NM_001010892
NM_001161664

NM_001162957

RefSeq (protein)

NP_001010892
NP_001155136

NP_001156429

Location (UCSC) Chr 6: 116.62 – 116.63 Mb Chr 10: 33.78 – 33.79 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Radial spoke head protein 4 homolog A, also known as radial spoke head-like protein 3, is a protein that in humans is encoded by the RSPH4A gene. [5] [6]

Contents

Function

TRadial spoke head protein 4 homolog A 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. [5]

Clinical significance

Mutations in the RSPH4A gene are associated with primary ciliary dyskinesia. [6]

Related Research Articles

Primary ciliary dyskinesia Medical condition

Primary ciliary dyskinesia (PCD) is a rare, autosomal recessive genetic ciliopathy, that causes defects in the action of cilia lining the upper and lower respiratory tract, sinuses, Eustachian tube, middle ear, Fallopian tube, and flagella of sperm cells. The alternative name of "immotile ciliary syndrome" is no longer favored as the cilia do have movement, but are merely inefficient or unsynchronized. When accompanied by situs inversus the condition is known as Kartagener syndrome.

Intraflagellar transport

Intraflagellar transport (IFT) is a bidirectional motility along axoneme microtubules that is essential for the formation (ciliogenesis) and maintenance of most eukaryotic cilia and flagella. It is thought to be required to build all cilia that assemble within a membrane projection from the cell surface. Plasmodium falciparum cilia and the sperm flagella of Drosophila are examples of cilia that assemble in the cytoplasm and do not require IFT. The process of IFT involves movement of large protein complexes called IFT particles or trains from the cell body to the ciliary tip and followed by their return to the cell body. The outward or anterograde movement is powered by kinesin-2 while the inward or retrograde movement is powered by cytoplasmic dynein 2/1b. The IFT particles are composed of about 20 proteins organized in two subcomplexes called complex A and B.

ANKH Protein-coding gene in the species Homo sapiens

Progressive ankylosis protein homolog is a protein that in humans is encoded by the ANKH gene.

DNAH5

Dynein axonemal heavy chain 5 is a protein that in humans is encoded by the DNAH5 gene.

DNAI1 Protein-coding gene in the species Homo sapiens

Dynein axonemal intermediate chain 1 is a protein that in humans is encoded by the DNAI1 gene.

DNAH11 Protein-coding gene in the species Homo sapiens

Dynein heavy chain 11, axonemal is a protein that in humans is encoded by the DNAH11 gene.

TMEM216

Transmembrane protein 216 is a protein in humans that is encoded by the TMEM216 gene.

LRRC50

Leucine-rich repeat-containing protein 50 is a protein that in humans is encoded by the LRRC50 gene.

RSPH9 Protein-coding gene in the species Homo sapiens

Radial spoke head protein 9 homolog is a protein that in humans is encoded by the RSPH9 gene.

DNAI2

Dynein axonemal intermediate chain 2 also known as axonemal dynein intermediate chain 2, is a protein that in humans is encoded by the DNAI2 gene.

NME8

Thioredoxin domain-containing protein 3 (TXNDC3), also known as spermatid-specific thioredoxin-2 (Sptrx-2), is a protein that in humans is encoded by the NME8 gene on chromosome 7.

ARL13B Protein-coding gene in the species Homo sapiens

ADP-ribosylation factor-like protein 13B (ARL13B), also known as ADP-ribosylation factor-like protein 2-like 1, is a protein that in humans is encoded by the ARL13B gene.

Dynein axonemal light chain 1 Protein-coding gene in the species Homo sapiens

Dynein axonemal light chain 1, (LC1) is a protein that in humans is encoded by the DNAL1 gene.

DNAAF2 Protein-coding gene in the species Homo sapiens

Kintoun, is a protein that is encoded by the DNAAF2 gene.

RSPH10B

Radial spoke head 10 homolog B2 is a protein that in humans is encoded by the RSPH10B gene.

RSPH6A Protein-coding gene in the species Homo sapiens

Radial spoke head protein 6 homolog A (RSPH6A) also known as radial spoke head-like protein 1 (RSHL1) is a protein that in humans is encoded by the RSPH6A gene.

RSPH3 Protein-coding gene in the species Homo sapiens

Radial spoke head protein 3 homolog (RSPH3), also known as radial spoke head-like protein 2 (RSHL2), is a protein that in humans is encoded by the RSPH3 gene.

RSPH1 Protein-coding gene in the species Homo sapiens

Radial spoke head 1 homolog (RSPH1), also known as cancer/testis antigen 79 (CT79) or testis-specific gene A2 protein (TSGA2), is a protein that in humans is encoded by the RSPH1 gene.

WDR72 Protein-coding gene in the species Homo sapiens

WD repeat-containing protein 72 is a protein that in humans is encoded by the WDR72 gene. WDR72 contains 7 WD40 repeats, which are predicted to form the blades of a 7 beta propeller structure.

DNAH1

Dynein axonemal heavy chain 1 is a protein that in humans is encoded by the DNAH1 gene.

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000111834 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000039552 - Ensembl, May 2017
  3. ↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. 1 2 "Entrez Gene: radial spoke head 4 homolog A (Chlamydomonas)".
  6. 1 2 Castleman VH, Romio L, Chodhari R, Hirst RA, de Castro SC, Parker KA, Ybot-Gonzalez P, Emes RD, Wilson SW, Wallis C, Johnson CA, Herrera RJ, Rutman A, Dixon M, Shoemark A, Bush A, Hogg C, Gardiner RM, Reish O, Greene ND, O'Callaghan C, Purton S, Chung EM, Mitchison HM (February 2009). "Mutations in radial spoke head protein genes RSPH9 and RSPH4A cause primary ciliary dyskinesia with central-microtubular-pair abnormalities". Am. J. Hum. Genet. 84 (2): 197–209. doi:10.1016/j.ajhg.2009.01.011. PMC   2668031 . PMID   19200523.

Further reading

This article incorporates text from the United States National Library of Medicine, which is in the public domain.


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