SAXO4 stabilizer of axonemal microtubules 4 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SAXO4provided by HGNC
Official Full Name: stabilizer of axonemal microtubules 4provided by HGNC
Primary source: HGNC:HGNC:28869
See related: Ensembl:ENSG00000162148 MIM:619047; AllianceGenome:HGNC:28869
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: IIIG9; PPP1R32; C11orf66
Summary: Enables phosphatase binding activity. Predicted to be involved in flagellated sperm motility. Located in ciliary basal body. [provided by Alliance of Genome Resources, Dec 2024]
Expression: Biased expression in testis (RPKM 29.1) and lung (RPKM 2.8) See more
Orthologs: mouse all
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Genomic context

Location:: 11q12.2

Exon count:: 14

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (61481120..61490928)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (61470007..61479841)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (61248592..61258400)

Chromosome 11 - NC_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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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?

Is IIIG9 a New Protein with Exclusive Ciliary Function? Analysis of Its Potential Role in Cancer and Other Pathologies.
Title: Is IIIG9 a New Protein with Exclusive Ciliary Function? Analysis of Its Potential Role in Cancer and Other Pathologies.

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

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 phosphatase binding	IBA Inferred from Biological aspect of Ancestor more info
enables phosphatase binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in flagellated sperm motility	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
is_active_in axonemal A tubule inner sheath	ISS Inferred from Sequence or Structural Similarity more info
located_in ciliary basal body	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	ISS Inferred from Sequence or Structural Similarity more info
is_active_in sperm flagellum	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: stabilizer of axonemal microtubules 4

Names: protein phosphatase 1 regulatory subunit 32

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)

NM_001170753.2 → NP_001164224.1 stabilizer of axonemal microtubules 4 isoform 2

See identical proteins and their annotated locations for NP_001164224.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks an alternate in-frame exon, compared to variant 1, resulting in a shorter protein (isoform 2), compared to isoform 1.

Source sequence(s)

BC043246, BC053995

Consensus CDS

CCDS53641.1

UniProtKB/Swiss-Prot

Q7Z5V6

Related

ENSP00000391560.2, ENST00000432063.6

Conserved Domains (1) summary

pfam15691
Location:2 → 396

PPP1R32; Protein phosphatase 1 regulatory subunit 32
NM_145017.3 → NP_659454.2 stabilizer of axonemal microtubules 4 isoform 1

See identical proteins and their annotated locations for NP_659454.2

Status: VALIDATED

Description

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

Source sequence(s)

BC053995, BI561157

Consensus CDS

CCDS8008.1

UniProtKB/Swiss-Prot

Q4G0P4, Q7Z5V6, Q96M77

UniProtKB/TrEMBL

G3F4G3

Related

ENSP00000344140.2, ENST00000338608.7

Conserved Domains (1) summary

pfam15691
Location:2 → 416

PPP1R32; Protein phosphatase 1 regulatory subunit 32