Version 5.4
Homo sapiens Protein: FAM161A
Summary
InnateDB Protein IDBP-293094.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol FAM161A
Protein Name family with sequence similarity 161, member A
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000385158
InnateDB Gene IDBG-53408 (FAM161A)
Protein Structure
UniProt Annotation
Function Involved in ciliogenesis. {ECO:0000269PubMed:22940612}.
Subcellular Localization Cytoplasm, cytoskeleton, cilium basal body {ECO:0000269PubMed:22940612}. Cell projection, cilium {ECO:0000269PubMed:22940612}. Note=Localized to the region between the outer and inner photoreceptor segments, corresponding to the photoreceptor connecting cilium.
Disease Associations Retinitis pigmentosa 28 (RP28) [MIM:606068]: A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. {ECO:0000269PubMed:20705278, ECO:0000269PubMed:20705279}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity Isoform 1 and isoform 3 are widely expressed with highest levels in retina and testis, with isoform 1 being the most abundant in all tissues tested. {ECO:0000269PubMed:20705278, ECO:0000269PubMed:20705279}.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.
Experimentally validated
Total 1 [view]
Protein-Protein 1 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
Biological Process
GO:0007601 visual perception
GO:0042384 cilium assembly
GO:0050896 response to stimulus
Cellular Component
GO:0005737 cytoplasm
GO:0005813 centrosome
GO:0032391 photoreceptor connecting cilium
GO:0036064 ciliary basal body
Protein Structure and Domains
PDB ID
InterPro IPR019579 Uncharacterised protein family UPF0564
PFAM PF10595
PRINTS
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q3B820
PhosphoSite PhosphoSite-Q3B820
TrEMBL
UniProt Splice Variant
Entrez Gene 84140
UniGene Hs.440466
RefSeq NP_001188472
HUGO HGNC:25808
OMIM 613596
CCDS CCDS56120
HPRD
IMGT
EMBL AC107081 AK023367 AK296255 BC107162 BC107163 BX648834 BX649029
GenPept BAB14544 BAG58969

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca