Family Search for PF12516 (DUF3719)

PF12516 hits 4 sequences in PaperBLAST's database above the trusted cutoff. Showing all hits. Or show only hits to curated sequences or try another family.

F149B_HUMAN / Q96BN6 Primary cilium assembly protein FAM149B1 from Homo sapiens (Human) (see paper)
NP_775483 primary cilium assembly protein FAM149B1 from Homo sapiens
Aligns to 114:179 / 582 (11.3%), covers 100.0% of PF12516, 98.4 bits

• function: Involved in the localization of proteins to the cilium and cilium assembly. Indirectly regulates the signaling functions of the cilium, being required for normal SHH/smoothened signaling and proper development.
  subunit: Interacts with TBC1D32; may play a role in cilium assembly.
• BROMI/TBC1D32 together with CCRK/CDK20 and FAM149B1/JBTS36 contributes to intraflagellar transport turnaround involving ICK/CILK1.
  Satoda, Molecular biology of the cell 2022
  • GeneRIF: BROMI/TBC1D32 together with CCRK/CDK20 and FAM149B1/JBTS36 contributes to intraflagellar transport turnaround involving ICK/CILK1.
• Expanding the Phenotype of the FAM149B1-Related Ciliopathy and Identification of Three Neurogenetic Disorders in a Single Family.
  Siegert, Genes 2021
  • GeneRIF: Expanding the Phenotype of the FAM149B1-Related Ciliopathy and Identification of Three Neurogenetic Disorders in a Single Family.
• Bi-allelic Mutations in FAM149B1 Cause Abnormal Primary Cilium and a Range of Ciliopathy Phenotypes in Humans.
  Shaheen, American journal of human genetics 2019
  • GeneRIF: FAM149B1 is required for normal ciliary biology and its deficiency results in a range of ciliopathy phenotypes in humans along the spectrum of Joubert syndrome

F149B_MOUSE / Q6NSV7 Primary cilium assembly protein FAM149B1 from Mus musculus (Mouse) (see paper)
Aligns to 116:181 / 578 (11.4%), covers 100.0% of PF12516, 96.9 bits

• function: Involved in the localization of proteins to the cilium and cilium assembly. Indirectly regulates the signaling functions of the cilium, being required for normal SHH/smoothened signaling and proper development.
  subunit: Interacts with TBC1D32; may play a role in cilium assembly.

A0JNF3 Primary cilium assembly protein FAM149B1 from Bos taurus
Aligns to 21:86 / 491 (13.4%), covers 100.0% of PF12516, 92.8 bits

• Post-Translational Protein Deimination Signatures in Serum and Serum-Extracellular Vesicles of Bos taurus Reveal Immune, Anti-Pathogenic, Anti-Viral, Metabolic and Cancer-Related Pathways for Deimination
  Criscitiello, International journal of molecular sciences 2020
  • “...H3 E1BGN3 1 46 Uncharacterised protein (CROCCCiliary rootlet coiled-coil, rootletin) E1BBS9 3 46 Protein FAM149B1 A0JNF3 2 45 Alpha-enolase F1MB08 2 45 Uncharacterised protein (UBR4Ubiquitin protein ligase E3 component n-recognin 4) E1BHT5 3 45 Complement component C9 Q3MHN2 1 44 Uncharacterised protein (DOCK8 Bos taurus dedicator...”

NP_500165 DUF3719 domain-containing protein from Caenorhabditis elegans
Aligns to 35:104 / 111 (63.1%), covers 69.7% of PF12516, 36.6 bits

• xbx-4, a homolog of the Joubert syndrome gene FAM149B1, acts via the CCRK and RCK kinase cascade to regulate cilia morphology.
  Maurya, Current biology : CB 2021
  • GeneRIF: xbx-4, a homolog of the Joubert syndrome gene FAM149B1, acts via the CCRK and RCK kinase cascade to regulate cilia morphology.

Or search for genetic data about PF12516 in the Fitness Browser