RSPH4A radial spoke head component 4A [Homo sapiens (human)] - Gene

Summary

Official Symbol: RSPH4Aprovided by HGNC
Official Full Name: radial spoke head component 4Aprovided by HGNC
Primary source: HGNC:HGNC:21558
See related: Ensembl:ENSG00000111834 MIM:612647; AllianceGenome:HGNC:21558
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: RSHL3; CILD11; RSPH6B; dJ412I7.1
Summary: This gene encodes a protein that appears to be a component the radial spoke head, as determined by homology to similar proteins in the biflagellate alga Chlamydomonas reinhardtii and other ciliates. Radial spokes, which are regularly spaced along cilia, sperm, and flagella axonemes, consist of a thin 'stalk' and a bulbous 'head' that form a signal transduction scaffold between the central pair of microtubules and dynein. Mutations in this gene cause primary ciliary dyskinesia 1, a disease arising from dysmotility of motile cilia and sperm. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]
Expression: Biased expression in lung (RPKM 1.6), testis (RPKM 0.8) and 13 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 6q22.1

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (116616479..116632985)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (117779906..117816694)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (116937642..116954148)

Chromosome 6 - NC_000006.12 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 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?

The RSPH4A Gene in Primary Ciliary Dyskinesia.
Title: The RSPH4A Gene in Primary Ciliary Dyskinesia.
Structural insights into the cause of human RSPH4A primary ciliary dyskinesia.
Title: Structural insights into the cause of human RSPH4A primary ciliary dyskinesia.
A novel mutation causing primary ciliary dyskinesia was found in Japanese patients.
Title: A targeted next-generation sequencing panel reveals novel mutations in Japanese patients with primary ciliary dyskinesia.
Absence of RSPH4A due to mutations in RSPH4A results in deficient axonemal assembly of the RS head components RSPH1 and RSPH9.
Title: Immunofluorescence Analysis and Diagnosis of Primary Ciliary Dyskinesia with Radial Spoke Defects.
the c.921+3_6delAAGT splice site mutation in RSPH4A is a founder mutation that is a common cause of PCD without situs abnormalities in patients of Hispanic Puerto Rican descent.
Title: Founder mutation in RSPH4A identified in patients of Hispanic descent with primary ciliary dyskinesia.
Mutations in RSPH4A 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.

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 11 MedGen: C2675229 OMIM: 612649 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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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables molecular_function	ND No biological Data available more info

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 cilium movement	IBA Inferred from Biological aspect of Ancestor more info
involved_in cilium movement	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cilium movement involved in cell motility	IEA Inferred from Electronic Annotation more info
involved_in epithelial cilium movement involved in extracellular fluid movement	IEA Inferred from Electronic Annotation more info
involved_in establishment of localization in cell	IEA Inferred from Electronic Annotation more info
involved_in maintenance of ciliary planar beating movement pattern	IEA Inferred from Electronic Annotation 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	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 extracellular region	IEA Inferred from Electronic Annotation more info
located_in motile cilium	IC Inferred by Curator more info	PubMed
part_of radial spoke	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 2	IEA Inferred from Electronic Annotation more info
part_of radial spoke head 3	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: radial spoke head protein 4 homolog A

Names: radial spoke head 4 homolog A; radial spoke head-like protein 3; radial spokehead-like 3

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_012934.1 RefSeqGene

Range

5001..21507

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001010892.3 → NP_001010892.1 radial spoke head protein 4 homolog A isoform 1

See identical proteins and their annotated locations for NP_001010892.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longer isoform (1).

Source sequence(s)

AK095293, AK299754, CB851663

Consensus CDS

CCDS34521.1

UniProtKB/Swiss-Prot

B4DSI1, Q3KP24, Q5TD94, Q5TD95

Related

ENSP00000229554.5, ENST00000229554.10

Conserved Domains (1) summary

pfam04712
Location:211 → 693

Radial_spoke; Radial spokehead-like protein
NM_001161664.2 → NP_001155136.1 radial spoke head protein 4 homolog A isoform 2

See identical proteins and their annotated locations for NP_001155136.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) is missing an exon in the 3' coding region compared to variant 1. This results in a frame-shift, and a shorter isoform (2) with a distinct C-terminus compared to isoform 1.

Source sequence(s)

AK299754, BC106949, CB851663

Consensus CDS

CCDS55051.1

UniProtKB/Swiss-Prot

Q5TD94

Related

ENSP00000357570.4, ENST00000368581.8

Conserved Domains (2) summary

pfam04712
Location:211 → 554

Radial_spoke; Radial spokehead-like protein

cl26386
Location:18 → 217

DNA_pol3_gamma3; DNA polymerase III subunits gamma and tau domain III

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_000006.12 Reference GRCh38.p14 Primary Assembly

Range

116616479..116632985

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047418725.1 → XP_047274681.1 radial spoke head protein 4 homolog A isoform X1

RNA

XR_007059261.1 RNA Sequence
XR_007059262.1 RNA Sequence
XR_007059263.1 RNA Sequence
XR_007059264.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

NC_060930.1 Alternate T2T-CHM13v2.0

Range

117779906..117816694

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054355323.1 → XP_054211298.1 radial spoke head protein 4 homolog A isoform X2
XM_054355324.1 → XP_054211299.1 radial spoke head protein 4 homolog A isoform X1
XM_054355325.1 → XP_054211300.1 radial spoke head protein 4 homolog A isoform X3