Family Search for PF14652 (DUF4457)
April 2024: See Interactive Tools for Functional Annotation of Bacterial Genomes for advice on using these tools.
PF14652 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.
KATIP_HUMAN / O60303 Katanin-interacting protein from Homo sapiens (Human) (see 2 papers)
2 alignments in 979:1533 / 1618 (30.0%), covering up to 99.7% of PF14652, 668.6 bits
XP_005255258 katanin-interacting protein isoform X1 from Homo sapiens
2 alignments in 1040:1594 / 1679 (28.9%), covering up to 99.7% of PF14652, 668.4 bits
- The Scaffold Protein KATNIP Enhances CILK1 Control of Primary Cilia.
Turner, Molecular and cellular biology 2023 - GeneRIF: The Scaffold Protein KATNIP Enhances CILK1 Control of Primary Cilia.
- Co-occurrence of mutations in KIF7 and KIAA0556 in Joubert syndrome with ocular coloboma, pituitary malformation and growth hormone deficiency: a case report and literature review.
Niceta, BMC pediatrics 2020 - GeneRIF: Co-occurrence of mutations in KIF7 and KIAA0556 in Joubert syndrome with ocular coloboma, pituitary malformation and growth hormone deficiency: a case report and literature review.
- Overlap of polymicrogyria, hydrocephalus, and Joubert syndrome in a family with novel truncating mutations in ADGRG1/GPR56 and KIAA0556.
Cauley, Neurogenetics 2019 (PubMed)- GeneRIF: homozygous truncating mutations in both ADGRG1/GPR56 and KIAA0556 are found in brothers displaying an overlap of polymicrogyria, hydrocephalus, and Joubert syndrome
- Pathogenic variants of DYNC2H1, KIAA0556, and PTPN11 associated with hypothalamic hamartoma.
Fujita, Neurology 2019 (PubMed)- GeneRIF: Pathogenic germline variants of KIAA0556 associated with hypothalamic hamartoma were found.
- Identification of a homozygous nonsense mutation in KIAA0556 in a consanguineous family displaying Joubert syndrome.
Roosing, Human genetics 2016 - GeneRIF: Whole exome sequencing in a multiplex consanguineous family from India revealed a KIAA0556 homozygous single base pair deletion mutation (c.4420del; p.Met1474Cysfs*11). Knockdown of the gene in zebrafish resulted in a ciliopathy phenotype, rescued by co-injection of wildtype cDNA
- KIAA0556 is a novel ciliary basal body component mutated in Joubert syndrome.
Sanders, Genome biology 2015 - GeneRIF: KIAA0556 mutation identified in patients with Joubert syndrome. KIAA0556 binds to microtubules, p60/p80 katanins and genetically interacts with ARL13B.
- Gene expression in the mouse eye: an online resource for genetics using 103 strains of mice.
Geisert, Molecular vision 2009 - GeneRIF: KIAA0056 (also known as mouse MGC31549) is a strong candidate gene for retinitis pigmentosa, RP22 (human 16p12.3-p12.1). Conclusion is based on a massive expression data set for mouse (103 strains in Genenetwork.org) and joint analysis of RetNet database.
KATIP_MOUSE / Q8C753 Katanin-interacting protein from Mus musculus (Mouse) (see paper)
2 alignments in 969:1524 / 1610 (29.8%), covering up to 99.7% of PF14652, 663.7 bits
- function: May influence the stability of microtubules (MT), possibly through interaction with the MT-severing katanin complex.
subunit: Interacts with microtubules. Interacts with 4 subunits of the katanin complex: KATNA1, KATNAL1, KATNB1 and KATNBL1.
disruption phenotype: Knockout mice frequently display brain-specific defects, resulting in a noncommunicating (obstructive) hydrocephalus.
DDB_G0275861 hypothetical protein from Dictyostelium discoideum AX4
3 alignments in 1506:2390 / 2516 (29.5%), covering up to 99.4% of PF14652, 489.2 bits
- Katnip is needed to maintain microtubule function and lysosomal delivery to autophagosomes and phagosomes
Starling, Molecular biology of the cell 2023 - “...2003b ; Otto etal. , 2004 ). One of these was the previously unstudied gene DDB_G0275861, which we validate and characterize in this study. DDB_G0275861 has highly conserved orthologues throughout the eukaryotes, with the notable exceptions of all fungi and the fruit fly Drosophila melanogaster ....”
- The Atypical MAP Kinase ErkB Transmits Distinct Chemotactic Signals through a Core Signaling Module
Nichols, Developmental cell 2019 - “...ATP/ADP SepA Septase NCPR. Cytokinesis and delayed aggregation GefL RasGEF NCPR. cAMP wave, slug taxis DDB_G0275861 NCPR. Aggregation DDB_G0275843 ArfGAP DDB_G0275345 RabGAP-like DDB_G0275317 DDB_G0275315 DDB_G0274847 Nucleotidyltransferase ArgB N-acetylglutamate kinase DDB_G0274643 UdkB Uridine kinase DDB_G0274425 PP2C-related GacF RhoGAP DhkC Histidine kinase cAMP chemotaxis. Precocious aggregation DhkI Histidine...”
- Gene discovery by chemical mutagenesis and whole-genome sequencing in Dictyostelium
Li, Genome research 2016 - “...identified two or more variants each in five other genes ( tor , splA , DDB_G0275861 , DDB_G0283339 , and DDB_G0283893 ) ( Fig. 3 ; Supplemental Table S1 ). Only one of them, tor, has been previously implicated in aggregation ( Lee et al. 2005...”
KATIP_CAEEL / O44770 Protein KATNIP homolog from Caenorhabditis elegans (see paper)
3 alignments in 2:553 / 568 (97.2%), covering up to 99.1% of PF14652, 341.0 bits
- function: May regulate ciliary A-tubule number and, along with arl-13, controls cilium integrity.
disruption phenotype: No obvious phenotype. Ultrastructural analyses reveal disruption of ciliary microtubule load and organization, although various aspects of gross cilium length, function and transport are mostly normal.
Or search for genetic data about PF14652 in the Fitness Browser
by Morgan Price,
Arkin group
Lawrence Berkeley National Laboratory