RSPH9 radial spoke head component 9 [Homo sapiens (human)] - Gene

Summary

Official Symbol: RSPH9provided by HGNC
Official Full Name: radial spoke head component 9provided by HGNC
Primary source: HGNC:HGNC:21057
See related: Ensembl:ENSG00000172426 MIM:612648; AllianceGenome:HGNC:21057
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: CILD12; C6orf206; MRPS18AL1
Summary: This gene encodes a protein thought to be a component of the radial spoke head in motile cilia and flagella. Mutations in this gene are associated with primary ciliary dyskinesia 12. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Jul 2010]
Expression: Biased expression in testis (RPKM 11.2), lung (RPKM 1.7) and 1 other tissue See more
Orthologs: mouse all
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Genomic context

Location:: 6p21.1

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (43645036..43672600)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (43473769..43501327)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (43612773..43640337)

Chromosome 6 - NC_000006.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

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?

Mutations in RSPH9 leads to ultrastructural cilia defects and ciliary dyskinesia.
Title: Mutations in radial spoke head genes and ultrastructural cilia defects in East-European cohort of primary ciliary dyskinesia patients.
Study focused on an extended 5 generation Bedouin family, analysed mutation segregation, and calculated the age of the mutated allele in 2 families based on haplotypes and haplotype+microsatellite in an attempt to define the source of the mutation.
Title: Founder mutation(s) in the RSPH9 gene leading to primary ciliary dyskinesia in two inbred Bedouin families.

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 12 MedGen: C2675228 OMIM: 612650 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

RH81005 (e-PCR)
- UniSTS:86815

WI-14320 (e-PCR)
- UniSTS:76141

D6S1173E (e-PCR)
- UniSTS:39547

STS-W44431 (e-PCR)
- UniSTS:77253

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 axonemal central apparatus assembly	ISS Inferred from Sequence or Structural Similarity more info
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 cilium movement	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cilium movement involved in cell motility	IBA Inferred from Biological aspect of Ancestor more info
involved_in motile cilium assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in radial spoke assembly	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in 9+2 motile cilium	IDA Inferred from Direct Assay more info	PubMed
located_in 9+2 motile cilium	ISS Inferred from Sequence or Structural Similarity more info
is_active_in axoneme	IBA Inferred from Biological aspect of Ancestor more info
located_in axoneme	IC Inferred by Curator more info	PubMed
located_in axoneme	IDA Inferred from Direct Assay more info	PubMed
located_in axoneme	ISS Inferred from Sequence or Structural Similarity more info
located_in kinocilium	IEA Inferred from Electronic Annotation more info
located_in motile cilium	IC Inferred by Curator more info	PubMed
located_in motile cilium	ISS Inferred from Sequence or Structural Similarity 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 protein 9 homolog

Names: radial spoke head 9 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_023436.1 RefSeqGene

Range

5007..32571

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001193341.2 → NP_001180270.1 radial spoke head protein 9 homolog isoform 2

See identical proteins and their annotated locations for NP_001180270.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 5' coding region and has an alternate exon in the 3' coding region which results in a frameshift compared to variant 1. The resulting protein (isoform 2) is longer and has a distinct C-terminus compared to isoform 1; no homology support for C-ter.

Source sequence(s)

AK055407, AL136131, DA486918

Consensus CDS

CCDS55005.1

UniProtKB/Swiss-Prot

Q9H1X1

Related

ENSP00000361238.4, ENST00000372165.8
NM_001424119.1 → NP_001411048.1 radial spoke head protein 9 homolog isoform 3

Status: REVIEWED

Description

Transcript Variant: This variant (3) encodes the longest isoform (3).

Source sequence(s)

AL136131
NM_001424120.1 → NP_001411049.1 radial spoke head protein 9 homolog isoform 4

Status: REVIEWED

Source sequence(s)

AL136131
NM_001424121.1 → NP_001411050.1 radial spoke head protein 9 homolog isoform 5

Status: REVIEWED

Source sequence(s)

AL136131
NM_152732.5 → NP_689945.2 radial spoke head protein 9 homolog isoform 1

See identical proteins and their annotated locations for NP_689945.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the shorter transcript and encodes the shorter protein (isoform 1).

Source sequence(s)

AL136131, BC029519, DA486918

Consensus CDS

CCDS4905.1

UniProtKB/Swiss-Prot

A8K5T4, Q96NH9, Q9H1X1

Related

ENSP00000361236.4, ENST00000372163.5

Conserved Domains (1) summary

pfam04712
Location:235 → 274

Radial_spoke; Radial spokehead-like protein