Family Search for PF10595 (FAM161A_B)

April 2024: See Interactive Tools for Functional Annotation of Bacterial Genomes for advice on using these tools.

PF10595 hits 12 sequences in PaperBLAST's database above the trusted cutoff. Showing all hits. Or show only hits to curated sequences or try another family.

F161B_HUMAN / Q96MY7 Protein FAM161B from Homo sapiens (Human) (see paper)
Aligns to 167:536 / 647 (57.2%), covers 99.7% of PF10595, 327.1 bits

• subunit: Interacts with FAM161A.

NP_001188472 protein FAM161A isoform 1 from Homo sapiens
Aligns to 234:598 / 716 (51.0%), covers 99.7% of PF10595, 173.5 bits

• The evolution of centriole degradation in mouse sperm
  Khanal, Nature communications 2024
  • “...photoreceptors, as type 1 (house mouse 80 KDa, 700 aa, XP_006514891; human 83KDa, 716 aa, NP_001188472). We refer to the shorter isoform, comprised of exons 13 and 57 and expressed ubiquitously, as type 2 (house mouse 74 KDa, 644 aa, XP_006514893; human 76 KDa, 660 aa,...”

F161A_HUMAN / Q3B820 Protein FAM161A from Homo sapiens (Human) (see 8 papers)
NP_115556 protein FAM161A isoform 2 from Homo sapiens
Aligns to 234:592 / 660 (54.4%), covers 93.7% of PF10595, 162.8 bits

• function: Involved in ciliogenesis.
  subunit: Interacts (via central region) with CFAP418 (via N-terminus); the interaction is direct (PubMed:36233334). Interacts (via C-terminus) with microtubules (PubMed:22791751). Interacts with LCA5 (PubMed:22940612). Interacts with CEP290 (PubMed:22940612). Interacts with SDCCAG8 (PubMed:22940612). Interacts with FAM161B (PubMed:22791751). Interacts with POC1B (PubMed:25018096). Interacts with CEP78 (PubMed:27588451).
• Interactions between C8orf37 and FAM161A, Two Ciliary Proteins Essential for Photoreceptor Survival.
  Liu, International journal of molecular sciences 2022
  • GeneRIF: Interactions between C8orf37 and FAM161A, Two Ciliary Proteins Essential for Photoreceptor Survival.
• Unique combination of clinical features in a large cohort of 100 patients with retinitis pigmentosa caused by FAM161A mutations.
  Beryozkin, Scientific reports 2020
  • GeneRIF: Unique combination of clinical features in a large cohort of 100 patients with retinitis pigmentosa caused by FAM161A mutations.
• Structural bioinformatics predicts that the Retinitis Pigmentosa-28 protein of unknown function FAM161A is a homologue of the microtubule nucleation factor Tpx2.
  Levine, F1000Research 2020
  • GeneRIF: Structural bioinformatics predicts that the Retinitis Pigmentosa-28 protein of unknown function FAM161A is a homologue of the microtubule nucleation factor Tpx2.
• Ocular Phenotype of a Family with FAM161A-associated Retinal Degeneration.
  Duncan, Ophthalmic genetics 2016
  • GeneRIF: Exome analysis revealed a nonsense homozygous mutation in FAM161A segregating with retinal degeneration with severe vision loss and a range of disease onset and progression.
• Interactome analysis reveals that FAM161A, deficient in recessive retinitis pigmentosa, is a component of the Golgi-centrosomal network.
  Di, Human molecular genetics 2015 (PubMed)
  • GeneRIF: FAM161A's activities are probably not limited to ciliary tasks but also extend to more general cellular functions, highlighting possible novel mechanisms for the molecular pathology of retinal disease.
• Diverse clinical phenotypes associated with a nonsense mutation in FAM161A.
  Rose, Eye (London, England) 2015
  • GeneRIF: We screened a panel of 120 probands with recessive Retinitis Pigmentosa, and two were found to harbour biallelic FAM161A variants.
• Whole-exome sequencing reveals a novel frameshift mutation in the FAM161A gene causing autosomal recessive retinitis pigmentosa in the Indian population.
  Zhou, Journal of human genetics 2015 (PubMed)
  • GeneRIF: novel homozygous frameshift mutations of RP28-linked RP gene FAM161A in Indian population.
• A Nonsense Mutation in FAM161A Is a Recurrent Founder Allele in Dutch and Belgian Individuals With Autosomal Recessive Retinitis Pigmentosa.
  Van, Investigative ophthalmology & visual science 2015 (PubMed)
  • GeneRIF: founder mutation in FAM161A p.(Arg437*) underlies approximately 2% of arRP cases in the Dutch and Belgian populations.
• More
• Sperm acquire epididymis-derived proteins through epididymosomes.
  Barrachina, Human reproduction (Oxford, England) 2022
• Structural bioinformatics predicts that the Retinitis Pigmentosa-28 protein of unknown function FAM161A is a homologue of the microtubule nucleation factor Tpx2.
  Levine, F1000Research 2020
  • “...stated ( Zimmermann et al. , 2018 ). FAM161A isoform 2 (660 aa, accession number Q3B820) was used in searches, and numbering is for this isoform. Likewise, the Tpx2 sequence used is isoform X1 (747 aa, Q9ULW0). PSI-BLAST was carried out querying the nr30 or nr50...”
  • “...by directed mutagenesis of residues that align with Tpx2. Data availability Underlying data UniProtKB - Q3B820 (F161A_HUMAN), Accession number Q3B820: https://www.uniprot.org/uniprot/Q3B820 UniProtKB - Q9ULW0 (TPX2_HUMAN), Accession number Q9ULW0: https://www.uniprot.org/uniprot/Q9ULW0 Extended data Harvard Dataverse: Extended data, https://doi.org/10.7910/DVN/EVAGZU ( Levine, 2020 ). This project contains the file Supplementary...”

XP_005626198 protein FAM161A isoform X3 from Canis lupus familiaris
Aligns to 234:593 / 660 (54.5%), covers 93.4% of PF10595, 161.3 bits

• FAM161A and TTC8 are Differentially Expressed in Non-Allelelic Early Onset Retinal Degeneration.
  Downs, Advances in experimental medicine and biology 2016
  • GeneRIF: Data indicate taht the expression of eye proteins FAM161A and TTC8 was highest at 3 and 5 weeks of age, followed by decreased expression to the levels in the 16 week retina.

G5C1Y6 Protein FAM161A from Heterocephalus glaber
Aligns to 231:591 / 706 (51.1%), covers 99.7% of PF10595, 157.4 bits

• Acute Hypoxia Alters Extracellular Vesicle Signatures and the Brain Citrullinome of Naked Mole-Rats (Heterocephalus glaber)
  D'Alessio, International journal of molecular sciences 2022
  • “...Keratin, type II cytoskeletal 7 G5BAK9 Fatty acid-binding protein, epidermal G5B1Y7 Alpha-1-acid glycoprotein 1 (fragment) G5C1Y6 Protein FAM161A G5B3Z0 Xanthine dehydrogenase/oxidase G5ANL3 Serum paraoxonase/arylesterase 1 G5C682 Phosphatidylcholine-sterol acyltransferase G5C8M3 Malate dehydrogenase G5AU84 Beta-actin-like protein 2 G5C311 Desmoglein-1 E3VX78 Transferrin receptor protein 1 G5B899 Cytosolic phospholipase A2...”

XP_011242064 protein FAM161A isoform X5 from Mus musculus
Aligns to 150:336 / 620 (30.2%), covers 45.6% of PF10595, 125.2 bits

• A new mouse model for retinal degeneration due to Fam161a deficiency.
  Beryozkin, Scientific reports 2021
  • GeneRIF: A new mouse model for retinal degeneration due to Fam161a deficiency.
• Disruption of the retinitis pigmentosa 28 gene Fam161a in mice affects photoreceptor ciliary structure and leads to progressive retinal degeneration.
  Karlstetter, Human molecular genetics 2014 (PubMed)
  • GeneRIF: Fam161a is required for the molecular delivery into the outer segment cilium, a function which is essential for outer segment disk formation and ultimately visual function.
• FAM161A, associated with retinitis pigmentosa, is a component of the cilia-basal body complex and interacts with proteins involved in ciliopathies.
  Di, Human molecular genetics 2012 (PubMed)
  • GeneRIF: FAM161A-associated RP can be considered as a novel retinal ciliopathy and that its molecular pathogenesis may be related to other ciliopathies.
• Nonsense mutations in FAM161A cause RP28-associated recessive retinitis pigmentosa.
  Langmann, American journal of human genetics 2010
  • GeneRIF: Null mutations in FAM161A are responsible for the RP28-associated autosomal-recessive retinitis pigmentosa.
• Homozygosity mapping reveals null mutations in FAM161A as a cause of autosomal-recessive retinitis pigmentosa.
  Bandah-Rozenfeld, American journal of human genetics 2010
  • GeneRIF: These data suggest a pivotal role for FAM161A in photoreceptors and reveal that FAM161A loss-of-function mutations are a major cause of autosomal-recessive Retinitis pigmentosa.

XP_006514891 protein FAM161A isoform X1 from Mus musculus
Aligns to 230:416 / 700 (26.7%), covers 45.6% of PF10595, 124.7 bits

• The evolution of centriole degradation in mouse sperm
  Khanal, Nature communications 2024
  • “...exons 17 and expressed in photoreceptors, as type 1 (house mouse 80 KDa, 700 aa, XP_006514891; human 83KDa, 716 aa, NP_001188472). We refer to the shorter isoform, comprised of exons 13 and 57 and expressed ubiquitously, as type 2 (house mouse 74 KDa, 644 aa, XP_006514893;...”

XP_017454621 protein FAM161A isoform X2 from Rattus norvegicus
Aligns to 170:377 / 638 (32.6%), covers 44.5% of PF10595, 121.5 bits

• FAM161A, associated with retinitis pigmentosa, is a component of the cilia-basal body complex and interacts with proteins involved in ciliopathies.
  Di, Human molecular genetics 2012 (PubMed)
  • GeneRIF: FAM161A-associated RP can be considered as a novel retinal ciliopathy and that its molecular pathogenesis may be related to other ciliopathies.

XP_006514893 protein FAM161A isoform X3 from Mus musculus
Aligns to 230:416 / 644 (29.0%), covers 45.6% of PF10595, 118.6 bits

• The evolution of centriole degradation in mouse sperm
  Khanal, Nature communications 2024
  • “...13 and 57 and expressed ubiquitously, as type 2 (house mouse 74 KDa, 644 aa, XP_006514893; human 76 KDa, 660 aa, NP_001188472). Fig. 3 Murids express an evolutionarily novel FAM161A isoform in the testes. a Exon organization of FAM161A isoform types 1, 2, and 3. ID...”
  • “...common transcript, NP_001350211, coding for a 555-aa isoform, and an additional three minor transcripts, including XP_006514893, the type 2, 644-aa isoform (Supplementary Fig. 2 ) 104 . The new, 555-aa isoform has a predicted molecular weight of 64 KDa and is expected to be the type...”

F161A_MOUSE / Q8QZV6 Protein FAM161A from Mus musculus (Mouse) (see 2 papers)
B1AVK0 Protein FAM161A from Mus musculus
Aligns to 150:336 / 475 (39.4%), covers 45.6% of PF10595, 116.7 bits

• function: Involved in ciliogenesis.
  subunit: Interacts (via central region) with CFAP418 (via N-terminus); the interaction is direct (By similarity). Interacts (via C-terminus) with microtubules (By similarity). Interacts with LCA5 (By similarity). Interacts with CEP290 (By similarity). Interacts with SDCCAG8 (By similarity). Interacts with FAM161B (By similarity). Interacts with POC1B (By similarity). Interacts with CEP78 (By similarity).
• Motoneurons derived from induced pluripotent stem cells develop mature phenotypes typical of endogenous spinal motoneurons.
  Toma, The Journal of neuroscience : the official journal of the Society for Neuroscience 2015

NP_001350211 protein FAM161A isoform 1 from Mus musculus
Aligns to 230:416 / 555 (33.7%), covers 45.6% of PF10595, 116.1 bits

• The evolution of centriole degradation in mouse sperm
  Khanal, Nature communications 2024
  • “...shotgun sequencing data predicted that house mouse testes express four transcripts: a most common transcript, NP_001350211, coding for a 555-aa isoform, and an additional three minor transcripts, including XP_006514893, the type 2, 644-aa isoform (Supplementary Fig. 2 ) 104 . The new, 555-aa isoform has a...”

F161A_RAT / Q6AY14 Protein FAM161A from Rattus norvegicus (Rat) (see paper)
Aligns to 170:378 / 474 (44.1%), covers 44.5% of PF10595, 114.6 bits

• function: Involved in ciliogenesis.
  subunit: Interacts (via central region) with CFAP418 (via N-terminus); the interaction is direct (By similarity). Interacts (via C-terminus) with microtubules (By similarity). Interacts with LCA5 (By similarity). Interacts with CEP290 (By similarity). Interacts with SDCCAG8 (By similarity). Interacts with FAM161B (By similarity). Interacts with POC1B (By similarity). Interacts with CEP78 (By similarity).

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