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

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: mouse all
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Genomic context

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_000021.9 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Whole-exome sequencing reveals a combination of extremely rare single-nucleotide polymorphism of DNAH9 and RSPH1 genes in a Japanese fetus with situs viscerum inversus.
Title: Whole-exome sequencing reveals a combination of extremely rare single-nucleotide polymorphism of DNAH9 and RSPH1 genes in a Japanese fetus with situs viscerum inversus.
Deep phenotyping, including quantitative ciliary beating parameters, and extensive genotyping in primary ciliary dyskinesia.
Title: Deep phenotyping, including quantitative ciliary beating parameters, and extensive genotyping in primary ciliary dyskinesia.
RSPH1 mutations in primary ciliary dyskinesia cause structural defects in the cilia.
Title: Cryo-electron tomography reveals ciliary defects underlying human RSPH1 primary ciliary dyskinesia.
Milder disease in patients with biallelic mutations in RSPH1 provides evidence of a unique genotype-phenotype relationship in primary ciliary dyskinesia, suggesting that mutations in RSPH1 may be associated with residual ciliary function.
Title: Mutations in RSPH1 cause primary ciliary dyskinesia with a unique clinical and ciliary phenotype.
RSPH1 mutations thus appear as a major etiology for primary ciliary dyskinesia phenotype.
Title: Loss-of-function mutations in RSPH1 cause primary ciliary dyskinesia with central-complex and radial-spoke defects.
Radial spoke protein 44 denotes the restricted localization of the protein to the radial spokes of the axonemes of both sperm and cilia.
Title: Radial spoke protein 44 (human meichroacidin) is an axonemal alloantigen of sperm and cilia.

Submit: New GeneRIF Correction

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

Associated conditions

Description	Tests
Primary ciliary dyskinesia 24 MedGen: C3809634 OMIM: 615481 GeneReviews: Primary Ciliary Dyskinesia	Compare labs

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

SHGC-30133 (e-PCR)
- UniSTS:64790

NoName (e-PCR)
- UniSTS:483679

D21S49 (e-PCR)
- UniSTS:148159

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 more info	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 more info	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

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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)

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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.

Genomic

NG_034257.1 RefSeqGene

Range

5131..28869

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001286506.2 → NP_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:50 → 71

MORN; Possible plasma membrane-binding motif in junctophilins, PIP-5-kinases and protein kinases

COG4642
Location:19 → 149

COG4642; Uncharacterized conserved protein [Function unknown]

pfam02493
Location:29 → 51

MORN; MORN repeat
NM_080860.4 → NP_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:20 → 148

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

NC_000021.9 Reference GRCh38.p14 Primary Assembly

Range

42472486..42496224 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011529786.2 → XP_011528088.1 radial spoke head 1 homolog isoform X1

Conserved Domains (3) summary

smart00698
Location:88 → 109

MORN; Possible plasma membrane-binding motif in junctophilins, PIP-5-kinases and protein kinases

COG4642
Location:37 → 163

COG4642; Uncharacterized conserved protein [Function unknown]

pfam02493
Location:67 → 89

MORN; MORN repeat
XM_005261208.3 → XP_005261265.1 radial spoke head 1 homolog isoform X2

Conserved Domains (2) summary

smart00698
Location:42 → 62

MORN; Possible plasma membrane-binding motif in junctophilins, PIP-5-kinases and protein kinases

pfam02493
Location:23 → 43

MORN; MORN repeat