FAM161A Gene

Name	family with sequence similarity 161, member A
Description	This gene belongs to the FAM161 family. It is expressed mainly in the retina. Mouse studies suggested that this gene is involved in development of retinal progenitors during embryogenesis, and that its activity is restricted to mature photoreceptors after birth. Mutations in this gene cause autosomal recessive retinitis pigmentosa-28. Alternatively spliced transcript variants have been identified.[provided by RefSeq, Jan 2011]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n FAM161A is a ciliary‐centrosomal protein that plays a key role in the maintenance and function of photoreceptors. It is highly expressed in the retina—particularly in photoreceptor cells—where it localizes to the connecting cilium, basal body, and adjacent centrioles."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "3"}]}, {"type": "t", "text": " In these locations, FAM161A appears to regulate microtubule dynamics by directly binding to microtubules, enhancing their acetylation and stabilizing the cytoskeletal architecture that is critical for protein transport between the inner and outer segments of photoreceptors."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "3"}]}, {"type": "t", "text": " Moreover, studies in animal models have demonstrated that loss-of-function mutations in FAM161A lead to defects in the connecting cilium—such as shortening or disorganization—and result in abnormal disk formation and mislocalization of essential outer segment proteins, which ultimately contribute to retinal degeneration."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "5"}]}, {"type": "t", "text": ""}]}, {"type": "t", "text": "\n \n "}, {"type": "p", "children": [{"type": "t", "text": "\n In addition to its structural role, FAM161A interacts with multiple other proteins involved in ciliary function and intracellular transport. Its evolutionarily conserved UPF0564 domain mediates both microtubule association and homo-/heterotypic interactions with paralogs and other ciliopathy-associated proteins (e.g., lebercilin, CEP290, OFD1), suggesting that FAM161A is an integral component of a Golgi-centrosomal network that assures proper photoreceptor maintenance."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "3"}, {"type": "fg_f", "ref": "7"}]}, {"type": "t", "text": ""}]}, {"type": "t", "text": "\n \n "}, {"type": "p", "children": [{"type": "t", "text": "\n Thus, FAM161A is essential for the integrity of photoreceptor structure, most notably by ensuring the proper formation and stabilization of the connecting cilium and facilitating transport processes along microtubule tracks. Its dysfunction disrupts these critical cellular processes and underlies a significant fraction of retinitis pigmentosa cases.\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Dikla Bandah-Rozenfeld, Liliana Mizrahi-Meissonnier, Chen Farhy, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Homozygosity mapping reveals null mutations in FAM161A as a cause of autosomal-recessive retinitis pigmentosa."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Hum Genet (2010)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.ajhg.2010.07.022"}], "href": "https://doi.org/10.1016/j.ajhg.2010.07.022"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "20705279"}], "href": "https://pubmed.ncbi.nlm.nih.gov/20705279"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Thomas Langmann, Silvio Alessandro Di Gioia, Isabella Rau, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Nonsense mutations in FAM161A cause RP28-associated recessive retinitis pigmentosa."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Hum Genet (2010)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.ajhg.2010.07.018"}], "href": "https://doi.org/10.1016/j.ajhg.2010.07.018"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "20705278"}], "href": "https://pubmed.ncbi.nlm.nih.gov/20705278"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Frank Zach, Felix Grassmann, Thomas Langmann, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The retinitis pigmentosa 28 protein FAM161A is a novel ciliary protein involved in intermolecular protein interaction and microtubule association."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Mol Genet (2012)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/hmg/dds268"}], "href": "https://doi.org/10.1093/hmg/dds268"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "22791751"}], "href": "https://pubmed.ncbi.nlm.nih.gov/22791751"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Frank Zach, Heidi Stöhr "}, {"type": "b", "children": [{"type": "t", "text": "FAM161A, a novel centrosomal-ciliary protein implicated in autosomal recessive retinitis pigmentosa."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Adv Exp Med Biol (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/978-1-4614-3209-8_24"}], "href": "https://doi.org/10.1007/978-1-4614-3209-8_24"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "24664697"}], "href": "https://pubmed.ncbi.nlm.nih.gov/24664697"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Marcus Karlstetter, Nasrin Sorusch, Albert Caramoy, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Disruption of the retinitis pigmentosa 28 gene Fam161a in mice affects photoreceptor ciliary structure and leads to progressive retinal degeneration."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Mol Genet (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/hmg/ddu242"}], "href": "https://doi.org/10.1093/hmg/ddu242"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "24833722"}], "href": "https://pubmed.ncbi.nlm.nih.gov/24833722"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Silvio Alessandro Di Gioia, Stef J F Letteboer, Corinne Kostic, et al. "}, {"type": "b", "children": [{"type": "t", "text": "FAM161A, associated with retinitis pigmentosa, is a component of the cilia-basal body complex and interacts with proteins involved in ciliopathies."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Mol Genet (2012)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/hmg/dds368"}], "href": "https://doi.org/10.1093/hmg/dds368"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "22940612"}], "href": "https://pubmed.ncbi.nlm.nih.gov/22940612"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Silvio Alessandro Di Gioia, Pietro Farinelli, Stef J F Letteboer, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Interactome analysis reveals that FAM161A, deficient in recessive retinitis pigmentosa, is a component of the Golgi-centrosomal network."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Mol Genet (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/hmg/ddv085"}], "href": "https://doi.org/10.1093/hmg/ddv085"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "25749990"}], "href": "https://pubmed.ncbi.nlm.nih.gov/25749990"}]}]}]}
Synonyms	RP28
Proteins	F161A_HUMAN
NCBI Gene ID	84140
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Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

FAM161A has 4,677 functional associations with biological entities spanning 9 categories (molecular profile, organism, disease, phenotype or trait, functional term, phrase or reference, chemical, structural feature, cell line, cell type or tissue, gene, protein or microRNA, sequence feature) extracted from 109 datasets.

Click the + buttons to view associations for FAM161A from the datasets below.

If available, associations are ranked by standardized value

Harmonizome 3.0

FAM161A Gene

Functional Associations

Please acknowledge the Harmonizome in your publications by citing the following reference(s):

	Dataset	Summary
	Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of FAM161A gene relative to other tissues from the Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles	tissues with high or low expression of FAM161A gene relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles	tissue samples with high or low expression of FAM161A gene relative to other tissue samples from the Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq	tissue samples with high or low expression of FAM161A gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq dataset.
	Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of FAM161A gene relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.
	BioGPS Mouse Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of FAM161A gene relative to other cell types and tissues from the BioGPS Mouse Cell Type and Tissue Gene Expression Profiles dataset.
	CCLE Cell Line Gene CNV Profiles	cell lines with high or low copy number of FAM161A gene relative to other cell lines from the CCLE Cell Line Gene CNV Profiles dataset.
	CCLE Cell Line Gene Expression Profiles	cell lines with high or low expression of FAM161A gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	CellMarker Gene-Cell Type Associations	cell types associated with FAM161A gene from the CellMarker Gene-Cell Type Associations dataset.
	ChEA Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of FAM161A gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of FAM161A gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets dataset.
	ChEA Transcription Factor Targets 2022	transcription factors binding the promoter of FAM161A gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset.
	ClinVar Gene-Phenotype Associations	phenotypes associated with FAM161A gene from the curated ClinVar Gene-Phenotype Associations dataset.
	ClinVar Gene-Phenotype Associations 2025	phenotypes associated with FAM161A gene from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores	cellular components containing FAM161A protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores 2025	cellular components containing FAM161A protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Experimental Protein Localization Evidence Scores 2025	cellular components containing FAM161A protein in low- or high-throughput protein localization assays from the COMPARTMENTS Experimental Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores	cellular components co-occuring with FAM161A protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025	cellular components co-occuring with FAM161A protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
	COSMIC Cell Line Gene CNV Profiles	cell lines with high or low copy number of FAM161A gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with FAM161A gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Disease Associations	diseases associated with FAM161A gene/protein from the curated CTD Gene-Disease Associations dataset.
	DeepCoverMOA Drug Mechanisms of Action	small molecule perturbations with high or low expression of FAM161A protein relative to other small molecule perturbations from the DeepCoverMOA Drug Mechanisms of Action dataset.
	DepMap CRISPR Gene Dependency	cell lines with fitness changed by FAM161A gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores	diseases involving FAM161A gene from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores 2025	diseases involving FAM161A gene from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores	diseases co-occuring with FAM161A gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores 2025	diseases co-occuring with FAM161A gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
	DisGeNET Gene-Disease Associations	diseases associated with FAM161A gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
	DisGeNET Gene-Phenotype Associations	phenotypes associated with FAM161A gene in GWAS and other genetic association datasets from the DisGeNET Gene-Phenoptype Associations dataset.
	ENCODE Histone Modification Site Profiles	histone modification site profiles with high histone modification abundance at FAM161A gene from the ENCODE Histone Modification Site Profiles dataset.
	ENCODE Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of FAM161A gene from the ENCODE Transcription Factor Binding Site Profiles dataset.
	ENCODE Transcription Factor Targets	transcription factors binding the promoter of FAM161A gene in ChIP-seq datasets from the ENCODE Transcription Factor Targets dataset.
	ESCAPE Omics Signatures of Genes and Proteins for Stem Cells	PubMedIDs of publications reporting gene signatures containing FAM161A from the ESCAPE Omics Signatures of Genes and Proteins for Stem Cells dataset.
	GeneRIF Biological Term Annotations	biological terms co-occuring with FAM161A gene in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.
	GeneSigDB Published Gene Signatures	PubMedIDs of publications reporting gene signatures containing FAM161A from the GeneSigDB Published Gene Signatures dataset.
	GEO Signatures of Differentially Expressed Genes for Diseases	disease perturbations changing expression of FAM161A gene from the GEO Signatures of Differentially Expressed Genes for Diseases dataset.
	GEO Signatures of Differentially Expressed Genes for Gene Perturbations	gene perturbations changing expression of FAM161A gene from the GEO Signatures of Differentially Expressed Genes for Gene Perturbations dataset.
	GEO Signatures of Differentially Expressed Genes for Kinase Perturbations	kinase perturbations changing expression of FAM161A gene from the GEO Signatures of Differentially Expressed Genes for Kinase Perturbations dataset.
	GEO Signatures of Differentially Expressed Genes for Small Molecules	small molecule perturbations changing expression of FAM161A gene from the GEO Signatures of Differentially Expressed Genes for Small Molecules dataset.