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RSPH1 radial spoke head component 1 [ Homo sapiens (human) ]

Gene ID: 89765, updated on 17-Jun-2019

Summary

Official Symbol
RSPH1provided by HGNC
Official Full Name
radial spoke head component 1provided by HGNC
Primary source
HGNC:HGNC:12371
See related
Ensembl:ENSG00000160188 MIM:609314
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
CT79; TSA2; RSP44; TSGA2; RSPH10A
Summary
This gene encodes a male meiotic metaphase chromosome-associated acidic protein. This gene is expressed in tissues with motile cilia or flagella, including the trachea, lungs, airway brushings, and testes. Mutations in this gene result in primary ciliary dyskinesia-24. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2014]
Expression
Biased expression in testis (RPKM 13.7), lung (RPKM 8.0) and 12 other tissues See more
Orthologs

Genomic context

See RSPH1 in Genome Data Viewer
Location:
21q22.3
Exon count:
9
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 21 NC_000021.9 (42472486..42496246, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 21 NC_000021.8 (43892596..43916417, complement)

Chromosome 21 - NC_000021.9Genomic Context describing neighboring genes Neighboring gene transmembrane serine protease 3 Neighboring gene ubiquitin associated and SH3 domain containing A Neighboring gene RNA, U6 small nuclear 1149, pseudogene Neighboring gene uncharacterized LOC101930094 Neighboring gene solute carrier family 37 member 1 Neighboring gene uncharacterized LOC107987299

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC126568, MGC141927

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
axoneme assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
meiotic cell cycle IEA
Inferred from Electronic Annotation
more info
 
spermatid development IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
condensed nuclear chromosome IEA
Inferred from Electronic Annotation
more info
 
cytosol HDA PubMed 
meiotic spindle IEA
Inferred from Electronic Annotation
more info
 
motile cilium IDA
Inferred from Direct Assay
more info
PubMed 
nucleus HDA PubMed 
outer dense fiber IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
radial spoke head 1 homolog
Names
cancer/testis antigen 79
male meiotic metaphase chromosome-associated acidic protein
meichroacidin
testes specific gene A2 homolog
testis specific A2 homolog

NCBI Reference Sequences (RefSeq)

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_034257.1 RefSeqGene

    Range
    5001..28869
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001286506.2NP_001273435.1  radial spoke head 1 homolog isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an in-frame coding exon compared to variant 1. The resulting shorter isoform (2) lacks an internal protein segment compared to isoform 1.
    Source sequence(s)
    AB006536, BG822861, BU684013
    Consensus CDS
    CCDS68210.1
    UniProtKB/Swiss-Prot
    Q8WYR4
    Related
    ENSP00000381395.3, ENST00000398352.3
    Conserved Domains (3) summary
    smart00698
    Location:5071
    MORN; Possible plasma membrane-binding motif in junctophilins, PIP-5-kinases and protein kinases
    COG4642
    Location:19149
    COG4642; Uncharacterized conserved protein [Function unknown]
    pfam02493
    Location:2951
    MORN; MORN repeat
  2. NM_080860.4NP_543136.1  radial spoke head 1 homolog isoform 1

    See identical proteins and their annotated locations for NP_543136.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the predominant transcript and encodes the longer isoform (1).
    Source sequence(s)
    AB006536, BU684013
    Consensus CDS
    CCDS13688.1
    UniProtKB/Swiss-Prot
    Q8WYR4
    Related
    ENSP00000291536.3, ENST00000291536.8
    Conserved Domains (1) summary
    cl27415
    Location:20148
    COG4642; Uncharacterized conserved protein [Function unknown]

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000021.9 Reference GRCh38.p13 Primary Assembly

    Range
    42472486..42496246 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011529786.1XP_011528088.1  radial spoke head 1 homolog isoform X1

    Conserved Domains (3) summary
    smart00698
    Location:88109
    MORN; Possible plasma membrane-binding motif in junctophilins, PIP-5-kinases and protein kinases
    COG4642
    Location:37163
    COG4642; Uncharacterized conserved protein [Function unknown]
    pfam02493
    Location:6789
    MORN; MORN repeat
  2. XM_005261208.2XP_005261265.1  radial spoke head 1 homolog isoform X2

    Conserved Domains (2) summary
    smart00698
    Location:4262
    MORN; Possible plasma membrane-binding motif in junctophilins, PIP-5-kinases and protein kinases
    pfam02493
    Location:2343
    MORN; MORN repeat
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