SSNA1 SS nuclear autoantigen 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SSNA1provided by HGNC
Official Full Name: SS nuclear autoantigen 1provided by HGNC
Primary source: HGNC:HGNC:11321
See related: Ensembl:ENSG00000176101 MIM:610882; AllianceGenome:HGNC:11321
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: N14; NA14; NA-14
Summary: Enables identical protein binding activity. Predicted to act upstream of or within ciliary receptor clustering involved in smoothened signaling pathway and intraciliary transport. Located in centrosome. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in testis (RPKM 42.7), kidney (RPKM 20.7) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 9q34.3

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	9	NC_000009.12 (137188676..137190366)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	9	NC_060933.1 (149426339..149428029)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	9	NC_000009.11 (140083128..140084818)

Chromosome 9 - NC_000009.12 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?

SSNA1 Promotes Hepatocellular Carcinoma Metastasis Via STAT3/EMT Induction.
Title: SSNA1 Promotes Hepatocellular Carcinoma Metastasis Via STAT3/EMT Induction.
SSNA1 stabilizes dynamic microtubules and detects microtubule damage.
Title: SSNA1 stabilizes dynamic microtubules and detects microtubule damage.
NA14 may act as an adaptor protein regulating SPG4 localization to centrosomes, temporally and spatially regulating the microtubule-severing activity of SPG4 that is particularly critical during the cell cycle and neuronal development.
Title: Spastin-interacting protein NA14/SSNA1 functions in cytokinesis and axon development.
purification and characterization of NA14 and some variants; NA14 structure may be stabilized by two Glu-COO(-) ||| HO-Tyr H-bonds, highly conserved in NA14-like proteins in other species
Title: Characterization of the structure and self-recognition of the human centrosomal protein NA14: implications for stability and function.

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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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Markers

RH78795 (e-PCR)
- UniSTS:18554

RH75093 (e-PCR)
- UniSTS:86744

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables microtubule 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 axon arborization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in axon extension	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in axon extension	ISS Inferred from Sequence or Structural Similarity more info
involved_in axonogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in cell division	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in intraciliary transport	IEA Inferred from Electronic Annotation more info
involved_in microtubule cytoskeleton organization	IDA Inferred from Direct Assay more info	PubMed
involved_in microtubule cytoskeleton organization	ISS Inferred from Sequence or Structural Similarity more info
involved_in microtubule nucleation	IDA Inferred from Direct Assay more info	PubMed
involved_in receptor clustering	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in axon	ISS Inferred from Sequence or Structural Similarity more info
located_in axoneme	IDA Inferred from Direct Assay more info	PubMed
located_in centriole	IDA Inferred from Direct Assay more info	PubMed
is_active_in centrosome	IBA Inferred from Biological aspect of Ancestor more info
located_in centrosome	IDA Inferred from Direct Assay more info	PubMed
is_active_in ciliary basal body	IBA Inferred from Biological aspect of Ancestor more info
located_in ciliary basal body	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
located_in midbody	IDA Inferred from Direct Assay more info	PubMed
located_in motile cilium	IEA Inferred from Electronic Annotation more info
located_in nucleus	IEA Inferred from Electronic Annotation more info
located_in plasma membrane	IEA Inferred from Electronic Annotation more info
located_in supramolecular fiber	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: microtubule nucleation factor SSNA1

Names: Sjogren syndrome nuclear autoantigen 1; Sjogren's syndrome nuclear autoantigen 1; nuclear autoantigen of 14 kDa; sjoegren syndrome nuclear autoantigen 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.