RSPH1 (radial spoke head component 1)

2014-11-01  

Identity

HGNC
RSPH1
LOCATION
21q22.3
LOCUSID
89765
ALIAS
CT79,RSP44,RSPH10A,TSA2,TSGA2

Other Information

Locus ID:

NCBI: 89765
MIM: 609314
HGNC: 12371
Ensembl: ENSG00000160188

Variants:

dbSNP: 89765
ClinVar: 89765
TCGA: ENSG00000160188
COSMIC: RSPH1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000160188ENST00000291536Q8WYR4
ENSG00000160188ENST00000398352Q8WYR4

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
245685682014Mutations in RSPH1 cause primary ciliary dyskinesia with a unique clinical and ciliary phenotype.53
239931972013Loss-of-function mutations in RSPH1 cause primary ciliary dyskinesia with central-complex and radial-spoke defects.43
254738082014Cryo-electron tomography reveals ciliary defects underlying human RSPH1 primary ciliary dyskinesia.40
174518912007Radial spoke protein 44 (human meichroacidin) is an axonemal alloantigen of sperm and cilia.10

Citation

Dessen P

RSPH1 (radial spoke head component 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/72906/rsph1