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

Gene ID: 27156, updated on 13-May-2022

Summary

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
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Genomic context

See RSPH14 in Genome Data Viewer
Location:
22q11.22-q11.23
Exon count:
13
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (23059415..23180729, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (23482278..23564854, complement)
105.20220307 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 ATP synthase-coupling factor 6, mitochondrial-like Neighboring gene immunoglobulin lambda constant 7 Neighboring gene U7 small nuclear RNA Neighboring gene Sharpr-MPRA regulatory region 7478 Neighboring gene RAB36-BCR intergenic enhancer-blocking element 22-1 Neighboring gene G protein subunit alpha z Neighboring gene BCR-ABL minor-breakpoint cluster region Neighboring gene RNA, 7SL, cytoplasmic 6, pseudogene Neighboring gene Sharpr-MPRA regulatory region 5876 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

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

Phenotypes

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC16968

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables molecular_function ND
No biological Data available
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in biological_process ND
No biological Data available
more info
 
Component Evidence Code Pubs
is_active_in cellular_component ND
No biological Data available
more info
 

General protein information

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_014433.3NP_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:220255
    Arm; Armadillo/beta-catenin-like repeat
    sd00044
    Location:2755
    HEAT; HEAT repeat [structural motif]
    sd00043
    Location:224259
    ARM; armadillo repeat [structural motif]

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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_017028774.2XP_016884263.1  radial spoke head 14 homolog isoform X1

    Conserved Domains (4) summary
    cd00020
    Location:188255
    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:28131
    HEAT_2; HEAT repeats
    sd00044
    Location:2755
    HEAT; HEAT repeat [structural motif]
    sd00043
    Location:224256
    ARM; armadillo repeat [structural motif]
  2. XM_011530150.2XP_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:188255
    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:28131
    HEAT_2; HEAT repeats
    sd00044
    Location:2755
    HEAT; HEAT repeat [structural motif]
    sd00043
    Location:224256
    ARM; armadillo repeat [structural motif]
  3. XM_011530149.3XP_011528451.1  radial spoke head 14 homolog isoform X2

    Conserved Domains (5) summary
    cd00020
    Location:188255
    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:28131
    HEAT_2; HEAT repeats
    sd00044
    Location:2755
    HEAT; HEAT repeat [structural motif]
    sd00043
    Location:224256
    ARM; armadillo repeat [structural motif]
    cl22454
    Location:226351
    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_011530152.3XP_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:188255
    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:28131
    HEAT_2; HEAT repeats
    sd00044
    Location:2755
    HEAT; HEAT repeat [structural motif]
    sd00043
    Location:224256
    ARM; armadillo repeat [structural motif]
  5. XM_011530151.3XP_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:188255
    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:28131
    HEAT_2; HEAT repeats
    sd00044
    Location:2755
    HEAT; HEAT repeat [structural motif]
    sd00043
    Location:224256
    ARM; armadillo repeat [structural motif]
  6. XM_011530154.3XP_011528456.1  radial spoke head 14 homolog isoform X3

    Conserved Domains (4) summary
    cd00020
    Location:120187
    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:126187
    HEAT_2; HEAT repeats
    sd00044
    Location:429
    HEAT; HEAT repeat [structural motif]
    sd00043
    Location:156188
    ARM; armadillo repeat [structural motif]
  7. XM_047441334.1XP_047297290.1  radial spoke head 14 homolog isoform X5

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

    Conserved Domains (3) summary
    cd00020
    Location:56123
    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:62123
    HEAT_2; HEAT repeats
    sd00043
    Location:92124
    ARM; armadillo repeat [structural motif]

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060946.1 Alternate T2T-CHM13v2.0

    Range
    23482278..23564854 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)