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

    Gene ID: 89765, updated on 27-Nov-2024

    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; AllianceGenome:HGNC:12371
    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
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    Genomic context

    See RSPH1 in Genome Data Viewer
    Location:
    21q22.3
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 21 NC_000021.9 (42472486..42496224, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 21 NC_060945.1 (40861997..40886024, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 21 NC_000021.8 (43892596..43916334, complement)

    Chromosome 21 - NC_000021.9Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:43792792-43793740 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:43796799-43797369 Neighboring gene transmembrane serine protease 3 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:43808797-43809682 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18513 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr21:43814254-43815453 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr21:43834765-43835964 Neighboring gene ubiquitin associated and SH3 domain containing A Neighboring gene RNA, U6 small nuclear 1149, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18516 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:43857898-43858585 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:43858586-43859272 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13343 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18517 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:43883987-43884498 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18518 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr21:43887967-43889166 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18519 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18520 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18521 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr21:43912470-43913669 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13344 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13345 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:43919416-43919916 Neighboring gene RSPH1 divergent transcript Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:43932366-43933088 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:43933089-43933811 Neighboring gene solute carrier family 37 member 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13347 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13348 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18522 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:43940701-43941202 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:43941203-43941702 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18523 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 Functions

    What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC126568, MGC141927

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in axoneme assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in axoneme assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in meiotic cell cycle IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in spermatid development IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    located_in condensed nuclear chromosome IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cytosol HDA PubMed 
    located_in meiotic spindle IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in motile cilium IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in motile cilium IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleus HDA PubMed 
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in outer dense fiber IEA
    Inferred from Electronic Annotation
    more info
     
    part_of radial spoke head ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    part_of radial spoke head 1 IEA
    Inferred from Electronic Annotation
    more info
     
    part_of radial spoke head 3 IEA
    Inferred from Electronic Annotation
    more info
     
    located_in sperm flagellum ISS
    Inferred from Sequence or Structural Similarity
    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)

    NEW Try the new Transcript table

    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
      5131..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
      A8MWV0, B2RBN9, Q3MJA1, Q8WYR4
      Related
      ENSP00000291536.3, ENST00000291536.8
      Conserved Domains (1) summary
      cl27415
      Location:20148
      COG4642; Uncharacterized conserved protein [Function unknown]

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000021.9 Reference GRCh38.p14 Primary Assembly

      Range
      42472486..42496224 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011529786.2XP_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_005261208.3XP_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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060945.1 Alternate T2T-CHM13v2.0

      Range
      40861997..40886024 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054324955.1XP_054180930.1  radial spoke head 1 homolog isoform X2

    2. XM_054324954.1XP_054180929.1  radial spoke head 1 homolog isoform X1