Family Search for PF16043 (DUF4795)

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PF16043 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.

QRIC2_MOUSE / Q3V2A7 Glutamine-rich protein 2 from Mus musculus (Mouse) (see paper)
Aligns to 97:304 / 592 (35.1%), covers 99.5% of PF16043, 281.9 bits

• function: Has an essential role in the formation of sperm flagella and flagellar structure maintainance. It acts as a suppressor of ubiquitination and degradation of proteins involved in flagellar development and motility.
  subunit: Interacts with AKAP3, ODF2 and TSSK4.
  disruption phenotype: Knockout mice show coiled, bent, irregular, short or absent flagella, defects of sperm flagellar ultrastructure, a significant reduction in sperm locomotion, and decreased sperm count.

XP_006533168 glutamine-rich protein 2 isoform X7 from Mus musculus
Aligns to 1762:1969 / 2257 (9.2%), covers 99.5% of PF16043, 278.9 bits

• Loss-of-function missense variant of AKAP4 induced male infertility through reduced interaction with QRICH2 during sperm flagella development.
  Zhang, Human molecular genetics 2021 (PubMed)
  • GeneRIF: Loss-of-function missense variant of AKAP4 induced male infertility through reduced interaction with QRICH2 during sperm flagella development.
• Loss-of-function mutations in QRICH2 cause male infertility with multiple morphological abnormalities of the sperm flagella.
  Shen, Nature communications 2019
  • GeneRIF: The findings strongly suggest that the genetic mutations of QRICH2 can lead to male infertility with multiple morphological abnormalities of the flagella, and that QRICH2 is essential for sperm flagellar formation.

QRIC2_HUMAN / Q9H0J4 Glutamine-rich protein 2 from Homo sapiens (Human) (see paper)
Aligns to 1252:1459 / 1663 (12.5%), covers 99.5% of PF16043, 277.4 bits

• function: Has an essential role in the formation of sperm flagella and flagellar structure maintainance. It acts as a suppressor of ubiquitination and degradation of proteins involved in flagellar development and motility.
  subunit: Interacts with AKAP3, ODF2 and TSSK4.
• Protein Expression Profile in IVF Follicular Fluid and Pregnancy Outcome Analysis in Euthyroid Women with Thyroid Autoimmunity.
  Liu, ACS omega 2020
  • “...FAM10A4 11.095 3 27.406 0.0486 up Q8TDB4 MGARP protein MGARP 1.2223 1 25.389 0.0118 up Q9H0J4 QRICH2 glutamine-rich protein2 2 1 180.82 0.0438 up Q9H8L6 MMRN2 multimerin-2 22.904 3 104.41 0.0126 up Q9UBF2 COPG2 coatomer subunit -2 1.5956 1 97.621 0.0115 up Q9UHG3 PCYOX1 prenylcysteine oxidase1...”
• Protein Oxidative Damage in UV-Related Skin Cancer and Dysplastic Lesions Contributes to Neoplastic Promotion and Progression.
  Tramutola, Cancers 2020
  • “...6.70 6.43 8.3 7501 P01023 Alpha-2-macroglobulin (Alpha-2-M) A2M 14.77 6.04 163.2 6.46 ns 20.7 7803 Q9H0J4 Glutamine-rich protein 2 (Qrich-2) QRICH2 1.72 2.71 180.7 6.73 ns 20.5 5602 P18206 Vinculin (Vcl) VCL 32.83 9.26 123.7 5.66 5.62 ns P02452 Collagen alpha-1(I) chain (Alpha-1 t-I col) COL1A1...”

XP_047292867 glutamine-rich protein 2 isoform X4 from Homo sapiens
Aligns to 1203:1410 / 1672 (12.4%), covers 99.5% of PF16043, 277.4 bits

• Loss-of-function missense variant of AKAP4 induced male infertility through reduced interaction with QRICH2 during sperm flagella development.
  Zhang, Human molecular genetics 2021 (PubMed)
  • GeneRIF: Loss-of-function missense variant of AKAP4 induced male infertility through reduced interaction with QRICH2 during sperm flagella development.
• Loss-of-function mutations in QRICH2 cause male infertility with multiple morphological abnormalities of the sperm flagella.
  Shen, Nature communications 2019
  • GeneRIF: The findings strongly suggest that the genetic mutations of QRICH2 can lead to male infertility with multiple morphological abnormalities of the flagella, and that QRICH2 is essential for sperm flagellar formation.
• Whole exome sequencing of men with multiple morphological abnormalities of the sperm flagella reveals novel homozygous QRICH2 mutations.
  Kherraf, Clinical genetics 2019 (PubMed)
  • GeneRIF: Whole exome sequencing of men with multiple morphological abnormalities of the sperm flagella reveals novel homozygous QRICH2 mutations.

A6NNT2 Uncharacterized protein C16orf96 from Homo sapiens
Aligns to 728:945 / 1141 (19.1%), covers 84.6% of PF16043, 212.1 bits

• Quantitative Analysis of Ubiquitinated Proteins in Human Pituitary and Pituitary Adenoma Tissues
  Qian, Frontiers in endocrinology 2019
  • “...enzyme 6 IDAHLNK*VCPTTETIYNDEFYTK 23 544 1 4.54E+06 A4D2P6 GRID2IP Delphilin GK*MGTVSK*SR 10 570;576 1; 1 A6NNT2 C16orf96 Uncharacterized protein C16orf96 SALAGK*ASR 9 819 1 A6ZKI3 FAM127A Protein FAM127A K*ESPLLNDYR 10 86 1 1.64E+07 A8K6M4 cDNA FLJ75725, highly similar to Homo sapiens vesicle transport through interaction with...”
• Apolipoprotein E and clusterin inhibit the early phase of amyloid-β aggregation in an in vitro model of cerebral amyloid angiopathy.
  Endo, Acta neuropathologica communications 2019
  • “...protein 50 0.0265 60 0.0116 0.662 Q9BQE3 Tubulin alpha-1C chain 50 0.0051 60 0.0018 0.662 A6NNT2 Putative uncharacterized protein C16orf96 50 0.004 60 0.0011 0.662 P04350 Tubulin beta-4A chain 50 0.0064 80 0.0045 0.792 P98160 Basement membrane-specific heparan sulfate proteoglycan core protein 50 0.0004 60 0.0004...”
• Altered blood proteome in girls with high urine concentrations of bisphenol a, genistein, mono-ethyl hexylphthalate and mono-benzyl phthalate.
  Wang, MOJ proteomics & bioinformatics 2015
  • “...0.95 2 2.21 1.22 Q8WW4 chromosome 2 Open Reading Frame 47 0.93 2 4.56 0.91 A6NNT2 chromosome 16 open reading frame 96 0.95 3 2.07 5.27 P53621 coatomer alpha subunit 0.99 5 2.18 1.10 O43293 death associated kinase 0.86 3 2.77 1.38 P52429 diacylglycerol kinase epsilon...”

LOC102654344 glutamine-rich protein 2 from Apis mellifera
Aligns to 466:674 / 839 (24.9%), covers 98.6% of PF16043, 187.8 bits

• Effects of larval exposure to the insecticide flumethrin on the development of honeybee (Apis mellifera) workers
  Liu, Frontiers in physiology 2022
  • “...11.92 12.14 8.92 inosine-5-monophosphate dehydrogenase 1b LOC551772 1.71 1.46 1.46 2.36 zeta-sarcoglycan transcript variant X1 LOC102654344 3.23 1.76 1.60 2.50 glutamine-rich protein 2 LOC113219007 3.36 2.84 2.27 4.92 zinc finger protein 524-like LOC409000 6.69 6.20 5.54 8.41 cell adhesion molecule 2 transcript variant X2 LOC726150 0.04...”

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