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Rsph1 Gene Detail
Summary
  • Symbol
    Rsph1
  • Name
    radial spoke head 1 homolog (Chlamydomonas)
  • Synonyms
    MCA, meichroacidin, Tsga2
  • Feature Type
    protein coding gene
  • IDs
    MGI:1194909
    NCBI Gene: 22092
  • Alliance
    gene page
  • Transcription Start Sites
    7 TSS
Location &
Maps
more
  • Sequence Map
    Chr17:31473993-31496270 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 17, 15.94 cM
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    634 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1194909
 protein coding gene Chr17:31473993-31496357 (-)
129S1/SvImJ MGP_129S1SvImJ_G0023486
 protein coding gene Chr17:31000096-31032844 (-)
A/J MGP_AJ_G0023444
 protein coding gene Chr17:29988111-30013109 (-)
AKR/J MGP_AKRJ_G0023409
 protein coding gene Chr17:30240548-30266304 (-)
BALB/cJ MGP_BALBcJ_G0023449
 protein coding gene Chr17:30092223-30116173 (-)
C3H/HeJ MGP_C3HHeJ_G0023210
 protein coding gene Chr17:30623926-30647520 (-)
C57BL/6NJ MGP_C57BL6NJ_G0023891
 protein coding gene Chr17:32073386-32095499 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0021365
 protein coding gene Chr17:27124728-27150661 (-)
CAST/EiJ MGP_CASTEiJ_G0022711
 protein coding gene Chr17:30650462-30680577 (+)
CBA/J MGP_CBAJ_G0023185
 protein coding gene Chr17:33485993-33517946 (-)
DBA/2J MGP_DBA2J_G0023315
 protein coding gene Chr17:29400314-29423491 (-)
FVB/NJ MGP_FVBNJ_G0023285
 protein coding gene Chr17:29187977-29212335 (-)
LP/J MGP_LPJ_G0023393
 protein coding gene Chr17:31224133-31250093 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0023303
 protein coding gene Chr17:32562897-32591106 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0023933
 protein coding gene Chr17:30611589-30637001 (-)
PWK/PhJ MGP_PWKPhJ_G0022461
 protein coding gene Chr17:28231820-28267798 (-)
SPRET/EiJ MGP_SPRETEiJ_G0022279
 protein coding gene Chr17:28598417-28622183 (-)
WSB/EiJ MGP_WSBEiJ_G0022773
 protein coding gene Chr17:30568947-30598546 (-)



Homology
more
  • Human Ortholog
    RSPH1, radial spoke head component 1
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    RSPH1, radial spoke head component 1
  • Synonyms
    CT79, RSP44, RSPH10A, TSA2, TSGA2
  • Links
    NCBI Gene ID: 89765
    neXtProt AC: NX_Q8WYR4
    UniProt: Q8WYR4

  • Chr Location
    21q22.3; chr21:42472486-42496246 (-)  GRCh38
Human Diseases
more
  • Diseases
    2 with human RSPH1 associations

Human Disease Mouse Models
      
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • References
    3 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    12 phenotypes from 1 allele in 1 genetic background
    2 images
    33 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Mice homozygous for a targeted null mutation exhibit male infertility and azoospermia due to impaired spermatid formation, including deformation of the nucleus/head, acrosome, and flagellar mitochondrial sheath. Homozygous null females are fertile.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    29
  • GO References
    12
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    1005
  • Tissues
    168
  • cDNA Data
    46
  • Literature Summary
    6
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 22092 NCBI Gene Model | MGI Sequence Detail 22278 C57BL/6J ±  kb
    transcript NM_025290 RefSeq | MGI Sequence Detail 1104 ZRU/MplStud  
    polypeptide Q8VIG3 UniProt | EBI | MGI Sequence Detail 301 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 49
      cDNA 46
      Primer pair 2
      Other 1

      Microarray probesets 3
    References
    more
    • Summaries
      All 71
      Developmental Gene Expression 6
      Diseases 3
      Gene Ontology 12
      Phenotypes 33
    • Earliest
      J:36973 Taketo MM, et al., Mapping of eight testis-specific genes to mouse chromosomes. Genomics. 1997 Nov 15;46(1):138-42
    • Latest
      J:351211 Wu Y, et al., Cathepsin B abundance, activity and microglial localisation in Alzheimer's disease-Down syndrome and early onset Alzheimer's disease; the role of elevated cystatin B. Acta Neuropathol Commun. 2023 Aug 14;11(1):132
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    10/22/2024
    MGI 6.24     		The Jackson Laboratory