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    RSPH14 radial spoke head 14 homolog [ Homo sapiens (human) ]

    Gene ID: 27156, updated on 27-Nov-2024

    Summary

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    Official Symbol
    RSPH14provided by HGNC
    Official Full Name
    radial spoke head 14 homologprovided by HGNC
    Primary source
    HGNC:HGNC:13437
    See related
    Ensembl:ENSG00000100218 MIM:605663; AllianceGenome:HGNC:13437
    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
    RTDR1
    Summary
    This gene encodes a protein with no known function but with slight similarity to a yeast vacuolar protein. The gene is located in a region deleted in pediatric rhabdoid tumors of the brain, kidney and soft tissues, but mutations in this gene have not been associated with the disease. [provided by RefSeq, Jul 2008]
    Expression
    Biased expression in testis (RPKM 3.7), kidney (RPKM 1.1) and 2 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See RSPH14 in Genome Data Viewer
    Location:
    22q11.22-q11.23
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (23059415..23180729, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (23482278..23603314, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (23401593..23484177, complement)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene immunoglobulin lambda locus Neighboring gene uncharacterized LOC105372947 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18734 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18735 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18736 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18737 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13528 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18738 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18739 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18740 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18741 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13529 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18742 Neighboring gene NANOG hESC enhancer GRCh37_chr22:23371522-23372419 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:23372942-23373717 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:23389476-23389976 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:23389977-23390477 Neighboring gene immunoglobulin lambda constant 7 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18743 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18744 Neighboring gene ATP5PF pseudogene 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:23400965-23401466 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:23408338-23408545 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13531 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:23413406-23414286 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13530 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:23414287-23415168 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:23419536-23420472 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:23420473-23421408 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:23427689-23428684 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:23443582-23444481 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:23444482-23445380 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:23449187-23450051 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:23454971-23455874 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:23458713-23459630 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:23464199-23464700 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:23468351-23469228 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:23469593-23470182 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:23470183-23470770 Neighboring gene U7 small nuclear RNA Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18746 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18747 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:23483471-23484363 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13532 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr22:23492161-23492661 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr22:23491660-23492160 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:23498179-23498784 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:23508841-23509342 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18748 Neighboring gene Sharpr-MPRA regulatory region 7478 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13533 Neighboring gene RAB36-BCR intergenic enhancer-blocking element 22-1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:23521616-23522426 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18749 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13534 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13536 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13535 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:23526972-23527478 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:23534525-23535026 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:23535027-23535526 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:23536731-23537231 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:23541159-23542100 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:23543528-23543704 Neighboring gene G protein subunit alpha z Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:23559755-23560544 Neighboring gene BCR-ABL minor-breakpoint cluster region Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18750 Neighboring gene Sharpr-MPRA regulatory region 5876 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:23564024-23564225 Neighboring gene RNA, 7SL, cytoplasmic 6, pseudogene Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:23571548-23572282 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18751 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:23584482-23585232 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:23585233-23585984 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:23591289-23591814 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:23599428-23600084 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18753 Neighboring gene RAB36, member RAS oncogene family Neighboring gene BCR pseudogene 8 Neighboring gene RNA, 7SL, cytoplasmic 263, pseudogene Neighboring gene BCR activator of RhoGEF and GTPase Neighboring gene F-box and WD repeat domain containing 4 pseudogene 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. RSPH14 regulates the proliferation, cell cycle progression, and apoptosis of non-small cell lung cancer cells. Ma K, et al. FEBS Open Bio, 2021 Oct. PMID 34351079, Free PMC Article
    2. Isolation of genes from the rhabdoid tumor deletion region in chromosome band 22q11.2. Zhou J, et al. Gene, 2000 Jan 4. PMID 10607907
    3. Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture. Estrada K, et al. Nat Genet, 2012 Apr 15. PMID 22504420, Free PMC Article
    4. Ephrin-As, Eph receptors and integrin α3 interact and colocalise at membrane protrusions of U251MG glioblastoma cells. Makarov A, et al. Cell Biol Int, 2013 Oct. PMID 23686814
    5. A genome annotation-driven approach to cloning the human ORFeome. Collins JE, et al. Genome Biol, 2004. PMID 15461802, Free PMC Article

    See all (14) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC16968

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in motile cilium IEA
    Inferred from Electronic Annotation
    more info
    		  
    part_of radial spoke ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    radial spoke head 14 homolog
    Names
    rhabdoid tumor deletion region gene 1
    rhabdoid tumor deletion region protein 1

    NCBI Reference Sequences (RefSeq)

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    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.

    mRNA and Protein(s)

    1. NM_014433.3 → NP_055248.1  radial spoke head 14 homolog

      See identical proteins and their annotated locations for NP_055248.1

      Status: REVIEWED

      Source sequence(s)
      AC000029, AC245054
      Consensus CDS
      CCDS13803.1
      UniProtKB/Swiss-Prot
      Q9UHP6
      Related
      ENSP00000216036.4, ENST00000216036.9
      Conserved Domains (3) summary
      pfam00514
      Location:220 → 255
      Arm; Armadillo/beta-catenin-like repeat
      sd00044
      Location:27 → 55
      HEAT; HEAT repeat [structural motif]
      sd00043
      Location:224 → 259
      ARM; armadillo repeat [structural motif]

    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_000022.11 Reference GRCh38.p14 Primary Assembly

      Range
      23059415..23180729 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017028774.2 → XP_016884263.1  radial spoke head 14 homolog isoform X1

      Conserved Domains (4) summary
      cd00020
      Location:188 → 255
      ARM; Armadillo/beta-catenin-like repeats. An approximately 40 amino acid long tandemly repeated sequence motif first identified in the Drosophila segment polarity gene armadillo; these repeats were also found in the mammalian armadillo homolog beta-catenin, ...
      pfam13646
      Location:28 → 131
      HEAT_2; HEAT repeats
      sd00044
      Location:27 → 55
      HEAT; HEAT repeat [structural motif]
      sd00043
      Location:224 → 256
      ARM; armadillo repeat [structural motif]

    2. XM_011530150.2 → XP_011528452.1  radial spoke head 14 homolog isoform X1

      See identical proteins and their annotated locations for XP_011528452.1

      Conserved Domains (4) summary
      cd00020
      Location:188 → 255
      ARM; Armadillo/beta-catenin-like repeats. An approximately 40 amino acid long tandemly repeated sequence motif first identified in the Drosophila segment polarity gene armadillo; these repeats were also found in the mammalian armadillo homolog beta-catenin, ...
      pfam13646
      Location:28 → 131
      HEAT_2; HEAT repeats
      sd00044
      Location:27 → 55
      HEAT; HEAT repeat [structural motif]
      sd00043
      Location:224 → 256
      ARM; armadillo repeat [structural motif]

    3. XM_011530149.3 → XP_011528451.1  radial spoke head 14 homolog isoform X2

      Conserved Domains (5) summary
      cd00020
      Location:188 → 255
      ARM; Armadillo/beta-catenin-like repeats. An approximately 40 amino acid long tandemly repeated sequence motif first identified in the Drosophila segment polarity gene armadillo; these repeats were also found in the mammalian armadillo homolog beta-catenin, ...
      pfam13646
      Location:28 → 131
      HEAT_2; HEAT repeats
      sd00044
      Location:27 → 55
      HEAT; HEAT repeat [structural motif]
      sd00043
      Location:224 → 256
      ARM; armadillo repeat [structural motif]
      cl22454
      Location:226 → 351
      ARM; Armadillo/beta-catenin-like repeats. An approximately 40 amino acid long tandemly repeated sequence motif first identified in the Drosophila segment polarity gene armadillo; these repeats were also found in the mammalian armadillo homolog beta-catenin, ...

    4. XM_011530152.3 → XP_011528454.1  radial spoke head 14 homolog isoform X1

      See identical proteins and their annotated locations for XP_011528454.1

      Conserved Domains (4) summary
      cd00020
      Location:188 → 255
      ARM; Armadillo/beta-catenin-like repeats. An approximately 40 amino acid long tandemly repeated sequence motif first identified in the Drosophila segment polarity gene armadillo; these repeats were also found in the mammalian armadillo homolog beta-catenin, ...
      pfam13646
      Location:28 → 131
      HEAT_2; HEAT repeats
      sd00044
      Location:27 → 55
      HEAT; HEAT repeat [structural motif]
      sd00043
      Location:224 → 256
      ARM; armadillo repeat [structural motif]

    5. XM_011530151.3 → XP_011528453.1  radial spoke head 14 homolog isoform X1

      See identical proteins and their annotated locations for XP_011528453.1

      Conserved Domains (4) summary
      cd00020
      Location:188 → 255
      ARM; Armadillo/beta-catenin-like repeats. An approximately 40 amino acid long tandemly repeated sequence motif first identified in the Drosophila segment polarity gene armadillo; these repeats were also found in the mammalian armadillo homolog beta-catenin, ...
      pfam13646
      Location:28 → 131
      HEAT_2; HEAT repeats
      sd00044
      Location:27 → 55
      HEAT; HEAT repeat [structural motif]
      sd00043
      Location:224 → 256
      ARM; armadillo repeat [structural motif]

    6. XM_011530154.3 → XP_011528456.1  radial spoke head 14 homolog isoform X3

      Conserved Domains (4) summary
      cd00020
      Location:120 → 187
      ARM; Armadillo/beta-catenin-like repeats. An approximately 40 amino acid long tandemly repeated sequence motif first identified in the Drosophila segment polarity gene armadillo; these repeats were also found in the mammalian armadillo homolog beta-catenin, ...
      pfam13646
      Location:126 → 187
      HEAT_2; HEAT repeats
      sd00044
      Location:4 → 29
      HEAT; HEAT repeat [structural motif]
      sd00043
      Location:156 → 188
      ARM; armadillo repeat [structural motif]

    7. XM_047441334.1 → XP_047297290.1  radial spoke head 14 homolog isoform X5

    8. XM_011530155.3 → XP_011528457.1  radial spoke head 14 homolog isoform X4

      Conserved Domains (3) summary
      cd00020
      Location:56 → 123
      ARM; Armadillo/beta-catenin-like repeats. An approximately 40 amino acid long tandemly repeated sequence motif first identified in the Drosophila segment polarity gene armadillo; these repeats were also found in the mammalian armadillo homolog beta-catenin, ...
      pfam13646
      Location:62 → 123
      HEAT_2; HEAT repeats
      sd00043
      Location:92 → 124
      ARM; armadillo repeat [structural motif]

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060946.1 Alternate T2T-CHM13v2.0

      Range
      23482278..23603314 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054325550.1 → XP_054181525.1  radial spoke head 14 homolog isoform X1

    2. XM_054325549.1 → XP_054181524.1  radial spoke head 14 homolog isoform X1

    3. XM_054325552.1 → XP_054181527.1  radial spoke head 14 homolog isoform X2

    4. XM_054325554.1 → XP_054181529.1  radial spoke head 14 homolog isoform X1

    5. XM_054325551.1 → XP_054181526.1  radial spoke head 14 homolog isoform X1

    6. XM_054325553.1 → XP_054181528.1  radial spoke head 14 homolog isoform X3

    7. XM_054325556.1 → XP_054181531.1  radial spoke head 14 homolog isoform X5

    8. XM_054325555.1 → XP_054181530.1  radial spoke head 14 homolog isoform X4

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9UHP6.1 GenPept UniProtKB/Swiss-Prot:Q9UHP6

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