Family Search for PF12494 (DUF3695)

PF12494 hits 5 sequences in PaperBLAST's database above the trusted cutoff. Showing all hits. Or show only hits to curated sequences or try another family.

CF276_HUMAN / Q5T5A4 Cilia- and flagella-associated protein 276 from Homo sapiens (Human) (see 2 papers)
Aligns to 29:127 / 169 (58.6%), covers 95.0% of PF12494, 142.1 bits

• function: Microtubule inner protein (MIP) part of the dynein-decorated doublet microtubules (DMTs) in cilia axoneme, which is required for motile cilia beating (PubMed:36191189). May play an important role for the maintenance of myelin-axon integrity (By similarity). May affect intracellular Ca(2+) homeostasis (PubMed:31199454).
• Differential Proteomic Analysis of Human Sperm: A Systematic Review to Identify Candidate Targets to Monitor Sperm Quality.
  Corda, The world journal of men's health 2024
  • “...33 ]; Severe OAT [ 38 ]; AZS [ 26 55 ] - - - Q5T5A4 CFAP276 Protein CFAP276 4 AZS and obesity [ 33 ]; LM [ 34 ]; Blastocyst development [ 43 ]; Severe OAT [ 38 ] Testis enhanced Impaired embryo implantation -...”

CF276_BOVIN / E1B9I5 Cilia- and flagella-associated protein 276 from Bos taurus (Bovine) (see paper)
Aligns to 29:128 / 170 (58.8%), covers 98.0% of PF12494, 140.3 bits

• function: Microtubule inner protein (MIP) part of the dynein-decorated doublet microtubules (DMTs) in cilia axoneme, which is required for motile cilia beating (PubMed:34715025). May play an important role for the maintenance of myelin-axon integrity (By similarity). May affect intracellular Ca(2+) homeostasis (By similarity).

CF276_MOUSE / Q9DAD0 Cilia- and flagella-associated protein 276 from Mus musculus (Mouse) (see paper)
Aligns to 29:126 / 168 (58.3%), covers 96.0% of PF12494, 121.3 bits

• function: May play an important role for the maintenance of myelin-axon integrity (PubMed:31199454). May affect intracellular Ca(2+) homeostasis.
  function: Microtubule inner protein (MIP) part of the dynein-decorated doublet microtubules (DMTs) in cilia axoneme, which is required for motile cilia beating (By similarity). May play an important role for the maintenance of myelin-axon integrity (PubMed:31199454). May affect intracellular Ca(2+) homeostasis (By similarity).

c1orf194 protein C1orf194 homolog from Xenopus tropicalis
Aligns to 27:126 / 164 (61.0%), covers 87.1% of PF12494, 111.7 bits

• Comprehensive and Quantitative Proteomic Analysis of Metamorphosis-Related Proteins in the Veined Rapa Whelk, Rapana venosa
  Song, International journal of molecular sciences 2016
  • “...3 Angiotensin-converting enzyme (Fragment) Gallus gallus immune-related protein c154571_g1 2.22 1.81 10 3 Uncharacterized protein C1orf194 homolog Danio rerio immune-related protein c120194_g1 2.15 5.35 10 5 Hemocyanin A-type, units Ode to Odg (Fragment) Enteroctopus dofleini oxygen supply, immune-related protein c147531_g1 2.31 2.43 10 5 Hemocyanin A-type,...”
• Molecular characterization of the apical organ of the anthozoan Nematostella vectensis
  Sinigaglia, Developmental biology 2015
  • “...142 162410 No KOG - - - - - - - - DUF3695 Conserved, uncharacterized (C1orf194) X +/+ SPU_013076 145 199721 KOG3645 Signal transduction mechanisms Neurotransmitter-gated ion channel ligand binding domain, neurotransmitter-gated ion channel transmembrane domain (Pfam) Nicotinic Acetylcholine Receptor alpha +/+ SPU_001774 146 131533 KOG3714...”

NP_001353131 cilia- and flagella-associated protein 276 isoform 5 from Homo sapiens
Aligns to 3:76 / 118 (62.7%), covers 65.3% of PF12494, 76.0 bits

• C1orf194 deficiency leads to incomplete early embryonic lethality and dominant intermediate Charcot-Marie-Tooth disease in a knockout mouse model.
  Huang, Human molecular genetics 2020 (PubMed)
  • GeneRIF: C1orf194 deficiency leads to incomplete early embryonic lethality and dominant intermediate Charcot-Marie-Tooth disease in a knockout mouse model.
• Mutations in C1orf194, encoding a calcium regulator, cause dominant Charcot-Marie-Tooth disease.
  Sun, Brain : a journal of neurology 2019 (PubMed)
  • GeneRIF: the identification of two heterozygous missense mutations in the C1orf194 gene at 1p21.2-p13.2 with Charcot-Marie-Tooth disease are reported

Or search for genetic data about PF12494 in the Fitness Browser