Family Search for PF15232 (DUF4585)

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PF15232 hits 6 sequences in PaperBLAST's database above the trusted cutoff. Showing all hits. Or show only hits to curated sequences or try another family.

LOC105357479 uncharacterized protein LOC105357479 from Oryzias latipes
Aligns to 1182:1252 / 1371 (5.2%), covers 98.6% of PF15232, 104.6 bits

• Disruption of dmc1 Produces Abnormal Sperm in Medaka (Oryzias latipes)
  Chen, Scientific reports 2016
  • “...analysis of the transcriptome data, it was clear that several factors (such as LOC105355516, LOC101175181, LOC105357479 and LOC105353804) involved in DNA repair, such as the base excision repair and nucleotide excision repair pathways, were up-regulated ( Table S3 ; Figs 5b and S5). These factors might...”

CEFIP_HUMAN / Q711Q0 Cardiac-enriched FHL2-interacting protein from Homo sapiens (Human) (see paper)
XP_005269535 cardiac-enriched FHL2-interacting protein isoform X1 from Homo sapiens
Aligns to 1269:1340 / 1435 (5.0%), covers 98.6% of PF15232, 96.8 bits

• function: Plays an important role in cardiomyocyte hypertrophy via activation of the calcineurin/NFAT signaling pathway.
  subunit: Interacts with FHL2.
• Autosomal recessive congenital cataract is associated with a novel 4-bp splicing deletion mutation in a novel C10orf71 human gene.
  Chograni, Human genomics 2023
  • GeneRIF: Autosomal recessive congenital cataract is associated with a novel 4-bp splicing deletion mutation in a novel C10orf71 human gene.
• The novel cardiac z-disc protein CEFIP regulates cardiomyocyte hypertrophy by modulating calcineurin signaling.
  Dierck, The Journal of biological chemistry 2017
  • GeneRIF: Data suggest that CEFIP (cardiac-enriched FHL2-interacting protein) interacts with FHL2 (four and a half LIM domains protein-2) and modulates calcineurin signaling in cardiomyocytes; CEFIP is located at sarcomeric z-disc and is up-regulated in several models of cardiomegaly.

CEFIP_MOUSE / D3Z1D3 Cardiac-enriched FHL2-interacting protein from Mus musculus (Mouse) (see paper)
XP_006518380 cardiac-enriched FHL2-interacting protein isoform X1 from Mus musculus
Aligns to 1251:1322 / 1412 (5.1%), covers 100.0% of PF15232, 92.6 bits

• function: Plays an important role in cardiomyocyte hypertrophy via activation of the calcineurin/NFAT signaling pathway.
  subunit: Interacts with FHL2.
• The novel cardiac z-disc protein CEFIP regulates cardiomyocyte hypertrophy by modulating calcineurin signaling.
  Dierck, The Journal of biological chemistry 2017
  • GeneRIF: Data suggest that Cefip (cardiac-enriched Fhl2-interacting protein) interacts with Fhl2 (four and a half LIM domains protein-2) and modulates calcineurin signaling in cardiomyocytes; Cefip is located at sarcomeric z-disc and is up-regulated in several models of cardiomegaly.

CEFIP_RAT / M0RD54 Cardiac-enriched FHL2-interacting protein from Rattus norvegicus (Rat) (see paper)
Aligns to 1260:1331 / 1422 (5.1%), covers 100.0% of PF15232, 92.5 bits

• function: Plays an important role in cardiomyocyte hypertrophy via activation of the calcineurin/NFAT signaling pathway.
  subunit: Interacts with FHL2.

CD054_HUMAN / D6RIA3 Uncharacterized protein C4orf54; Familial obliterative portal venopathy from Homo sapiens (Human) (see paper)
Aligns to 1604:1673 / 1793 (3.9%), covers 97.3% of PF15232, 90.8 bits

• Effects of DISC1 on Alzheimer's disease cell models assessed by iTRAQ proteomics analysis
  Lu, Bioscience reports 2022
  • “...Q9NRI5 DISC1 Disrupted in schizophrenia 1 protein 2.175152568 Q9UK76 JPT1 Jupiter microtubule-associated homolog 1 2.129304373 D6RIA3 C4orf54 Uncharacterized protein C4orf54 1.976621657 Q6P1L8 MRPL14 39S ribosomal protein L14, mitochondrial 1.946385443 Q71DI3 HIST2H3A Histone H3.2 1.807106261 P05160 F13B Coagulation factor XIII B chain 1.656737482 Q93077 HIST1H2AC Histone H2A...”

NP_001155018 proline-rich basic protein 1 from Homo sapiens
E7EW31 Proline-rich basic protein 1 from Homo sapiens
Aligns to 874:944 / 1015 (7.0%), covers 95.9% of PF15232, 82.4 bits

• Variants in SKP1, PROB1, and IL17B genes at keratoconus 5q31.1-q35.3 susceptibility locus identified by whole-exome sequencing.
  Karolak, European journal of human genetics : EJHG 2017
  • GeneRIF: Segregation analysis revealed that variants c.475T>G in SKP1, c.671G>A in PROB1, and c.527G>A in IL17B in the 5q31.1-q35.3 linkage region, and c.850G>A in HKDC1 in the 10q22 locus completely segregated with the phenotype in the studied Keratoconus family
• Integrated genomic analysis implicates haploinsufficiency of multiple chromosome 5q31.2 genes in de novo myelodysplastic syndromes pathogenesis.
  Graubert, PloS one 2009
  • GeneRIF: Observational study of gene-disease association. (HuGE Navigator)
• Chronic Occupational Exposure to Ionizing Radiation Induces Alterations in the Structure and Metabolism of the Heart: A Proteomic Analysis of Human Formalin-Fixed Paraffin-Embedded (FFPE) Cardiac Tissue.
  Azimzadeh, International journal of molecular sciences 2020
  • “...light chain 2, ventricular/cardiac 0.75 2.03 10 2 Q0ZGT2 NEXN Nexilin 0.74 4.74 10 2 E7EW31 PROB1 Proline rich basic protein 1 0.74 4.33 10 2 P52179 MYOM1 Myomesin-1 0.73 8.85 10 3 Q9Y265 RUVBL1 RuvB-like 1 0.73 3.98 10 2 P46777 RPL5 60S ribosomal protein...”

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