Human Gene FAM161A (ENST00000404929.6) from GENCODE V44
Description: Homo sapiens FAM161 centrosomal protein A (FAM161A), transcript variant 1, mRNA. (from RefSeq NM_001201543) RefSeq Summary (NM_001201543): 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]. Gencode Transcript: ENST00000404929.6 Gencode Gene: ENSG00000170264.13 Transcript (Including UTRs) Position: hg38 chr2:61,824,848-61,854,060 Size: 29,213 Total Exon Count: 7 Strand: - Coding Region Position: hg38 chr2:61,826,455-61,854,041 Size: 27,587 Coding Exon Count: 7
ID:F161A_HUMAN DESCRIPTION: RecName: Full=Protein FAM161A; FUNCTION: Involved in ciliogenesis. SUBUNIT: Interacts (via C-terminus) with microtubules. Interacts with LCA5, CEP290 and SDCCAG8. Interacts with FAM161B. SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, cilium basal body. Cell projection, cilium. Note=Localized to the region between the outer and inner photoreceptor segments, corresponding to the photoreceptor connecting cilium. 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. DISEASE: Defects in FAM161A are the cause of retinitis pigmentosa type 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. SIMILARITY: Belongs to the FAM161 family. SEQUENCE CAUTION: Sequence=BAG58969.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
Pfam Domains: PF10595 - Uncharacterised protein family UPF0564
ModBase Predicted Comparative 3D Structure on Q3B820
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
US Server
