Family Search for PF12480 (DUF3699)

PF12480 hits 19 sequences in PaperBLAST's database above the trusted cutoff. Showing all hits. Or show only hits to curated sequences or try another family.

GAR3_HUMAN / Q8TC56 Golgi-associated RAB2 interactor protein 3 from Homo sapiens (Human) (see 2 papers)
Aligns to 116:186 / 605 (11.7%), covers 98.6% of PF12480, 102.8 bits

• function: May be involved in RNA biogenesis.
  subunit: Interacts (via N-terminus) with RAB2B (in GTP-bound form) (By similarity). Interacts with FRG1 (PubMed:17103222).
• Effect of transient scrotal hyperthermia on human sperm: an iTRAQ-based proteomic analysis.
  Wu, Reproductive biology and endocrinology : RB&E 2020
  • “...0.62445 5 GAPDHS O14556 Glyceraldehyde-3-phosphate dehydrogenase, testis-specific 0.65205 6 TEKT5 Q96M29 Tektin-5 0.61830 7 FAM71B Q8TC56 Protein FAM71B 0.55335 8 LRRC37B Q96QE4 Leucine-rich repeat-containing protein 37B 0.62535 9 TPI1 P60174 Triosephosphate isomerase 0.59305 10 ODF1 Q14990 Outer dense fiber protein 1 0.60095 11 GLUL P15104 Glutamine...”
• Quantitative proteomic analysis of sperm in unexplained recurrent pregnancy loss
  Xue, Reproductive biology and endocrinology : RB&E 2019
  • “...2 FSIP2 1.18 2.85668E-06 O75976 Carboxypeptidase D CPD 0.78 0.004574668 Q8TEX9 Importin-4 IPO4 1.20 0.002037515 Q8TC56 Protein FAM71B FAM71B 0.92 0.00900713 Q9BXF9 Tektin-3 TEKT3 0.70 0.016060278 A0A0C4DGB6 Serum albumin ALB 1.28 0.006274223 A0A0G2JML4 C6orf10 C6orf10 1.01 0.041954588 Q6ZU69 Protein FAM205A FAM205A 1.26 0.010902458 Q9UII2 ATPase inhibitor,...”
• Proteomic analysis reveals dysregulated cell signaling in ejaculated spermatozoa from infertile men.
  Samanta, Asian journal of andrology 2019
  • “...32.7 53.3 60.0 76.7 Actin-related protein T2 Q8TDY3 42 33.0 59.0 64.7 87.0 Protein FAM71B Q8TC56 65 41.3 60.0 81.0 103.3 Sodium/potassium-transporting ATPase subunit alpha-4 isoform 1 Q13733 114 46.0 93.0 105.3 131.3 Beta-galactosidase-1-like protein precursor Q6UWU2 74 48.3 63.7 71.3 105.3 Carnitine O--acetyltransferase precursor P43155...”
• Molecular signatures of sanguinarine in human pancreatic cancer cells: A large scale label-free comparative proteomics approach.
  Singh, Oncotarget 2015
  • “...domains & ankyrin repeats 162,505 3 2 3 3 9 1.26% 2.56% 3.55E-03 2.131 8 Q8TC56 FAM71B Protein FAM71B 64,756 2 2 5 4 7 6.61% 5.87% 1.20E-02 2.129 9 P50479 PDLIM4 PDZ and LIM domain protein 4 35,398 2 4 7 3 9 10.54% 5.98%...”

F1RQD7 Golgi associated RAB2B interactor family member 3 from Sus scrofa
Aligns to 120:190 / 593 (12.0%), covers 98.6% of PF12480, 101.2 bits

• Comparative Proteomics and Phosphoproteomics Analysis Reveal the Possible Breed Difference in Yorkshire and Duroc Boar Spermatozoa
  Xu, Frontiers in cell and developmental biology 2021
  • “...Family with sequence similarity 71, member A Thr115, Ser399/Ser405, Ser182, Ser405 Down RNA biogenesis 85 F1RQD7 FAM71B Family with sequence similarity 71, member B Ser184, Ser518, Ser494, Ser181/Ser183/Ser184, Ser494/Ser495, Ser183/Ser184, Ser24 Down RNA biogenesis 86 A0A286ZY95 FN1 Fibronectin Ser2378 Down Sperm maturation 87 F1RYK8 FSIP2 Fibrous...”

GAR3_MOUSE / Q5STT6 Golgi-associated RAB2B interactor protein 3; Protein FAM71B from Mus musculus (Mouse) (see 2 papers)
Aligns to 123:192 / 665 (10.5%), covers 91.5% of PF12480, 99.7 bits

• function: May be involved in RNA biogenesis.
  subunit: Interacts (via N-terminus) with RAB2B (in GTP-bound form) (PubMed:18256213). Interacts with FRG1.

Q5VWN6 Protein TASOR 2 from Homo sapiens
Aligns to 94:167 / 2430 (3.0%), covers 98.6% of PF12480, 98.3 bits

• Role of BCLAF-1 in PD-L1 stabilization in response to ionizing irradiation.
  Ma, Cancer science 2021
  • “...ligand 1 Q9NZQ7 12.11 6 1.7 Polyadenylatebinding protein 4 Q13310 (+1) 8.57 3 Protein FAM208B Q5VWN6 7.70 7 6.0 Fragile X mental retardation syndromerelated protein 1 P51114 6.07 5 2.0 Spermspecific antigen 2 P28290 5.83 4 1.7 FilaminB O75369 5.2 4 2.9 DNA topoisomerase 2alpha P11388...”

F1S2W0 Family with sequence similarity 71 member A from Sus scrofa
Aligns to 117:187 / 597 (11.9%), covers 98.6% of PF12480, 98.3 bits

• Comparative Proteomics and Phosphoproteomics Analysis Reveal the Possible Breed Difference in Yorkshire and Duroc Boar Spermatozoa
  Xu, Frontiers in cell and developmental biology 2021
  • “...A0A287AEH4 FAM205C Family with sequence similarity 205 member C Ser28, Ser22 Down RNA biogenesis 84 F1S2W0 FAM71A Family with sequence similarity 71, member A Thr115, Ser399/Ser405, Ser182, Ser405 Down RNA biogenesis 85 F1RQD7 FAM71B Family with sequence similarity 71, member B Ser184, Ser518, Ser494, Ser181/Ser183/Ser184, Ser494/Ser495,...”

Q96KD3 Golgi-associated RAB2 interactor protein 1B from Homo sapiens
Aligns to 140:208 / 344 (20.1%), covers 98.6% of PF12480, 89.9 bits

• Proteomic Differences in Blood Plasma Associated with Antidepressant Treatment Response.
  Turck, Frontiers in molecular neuroscience 2017
  • “...activity Q96PY6 Serine/threonine-protein kinase Nek1 NEK1 >5.00 Cell communication Serine/threonine kinase Protein serine/threonine kinase activity Q96KD3 Protein FAM71F1 FAM71F1 >5.00 Unknown Unclassified Molecular function unknown Q92750 Transcription initiation factor TFIID subunit 4B TAF4B >5.00 Cell growth and maintenance Transcription factor Transcription factor activity P12814 Alpha-actinin-1 ACTN1...”

GAR1A_MOUSE / B2RXB0 Golgi-associated RAB2 interactor protein 1A from Mus musculus (Mouse) (see 2 papers)
Aligns to 107:175 / 297 (23.2%), covers 98.6% of PF12480, 89.4 bits

• function: RAB2B effector protein required for accurate acrosome formation and normal male fertility.
  subunit: Interacts (via N-terminus) with RAB2B (in GTP-bound form).
  disruption phenotype: Mutant male fertility is significantly impaired compared with that of the controls (PubMed:34714330). Spermatozoa from mutant mice showed abnormal head shapes with an abnormal acrosome morphology (PubMed:34714330).

GAR4_HUMAN / Q8IYT1 Golgi-associated RAB2 interactor protein 4; Golgi-associated Rab2B interactor-like 4; GARI-L4; GARI-like 4 from Homo sapiens (Human) (see paper)
NP_705834 protein FAM71A from Homo sapiens
Aligns to 115:184 / 594 (11.8%), covers 97.2% of PF12480, 87.6 bits

• function: RAB2B effector protein required for the compacted Golgi morphology, probably through interaction with small GTPase RAB2B.
  subunit: Interacts (via N-terminus) with RAB2B (in GTP-bound form).
• Small GTPase Rab2B and Its Specific Binding Protein Golgi-associated Rab2B Interactor-like 4 (GARI-L4) Regulate Golgi Morphology.
  Aizawa, The Journal of biological chemistry 2015
  • GeneRIF: Data identified Golgi-associated Rab2B interactor-like 4 (GARI-L4) as a novel Golgi-resident Rab2B-specific binding protein whose knockdown induced fragmentation of the Golgi
• Effect of transient scrotal hyperthermia on human sperm: an iTRAQ-based proteomic analysis.
  Wu, Reproductive biology and endocrinology : RB&E 2020
  • “...protein T2 0.66370 16 RSPH9 Q9H1X1 Radial spoke head protein 9 homolog 0.65810 17 FAM71A Q8IYT1 Protein FAM71A 0.59755 18 MENT Q9BUN1 Protein MENT 0.55490 19 ACTL9 Q8TC94 Actin-like protein 9 0.65075 20 CYCL1 P35663 Cylicin-1 0.57220 21 CYCL2 Q14093 Cylicin-2 0.50275 22 VRK3 Q8IV63 Inactive...”

GAR1B_MOUSE / Q3UZD7 Golgi-associated RAB2 interactor protein 1B; Golgi-associated RAB2 interactor-like 1; GARI-L1 from Mus musculus (Mouse) (see paper)
Aligns to 140:208 / 341 (20.2%), covers 98.6% of PF12480, 86.1 bits

• function: RAB2B effector protein required for accurate acrosome formation and normal male fertility (PubMed:34714330). In complex with RAB2A/RAB2B, seems to suppress excessive vesicle trafficking during acrosome formation (PubMed:34714330).
  disruption phenotype: Mutant males are sterile (PubMed:34714330). Spermatozoa from mutant mice showed abnormal head shapes with an abnormal swollen acrosome morphology and impaired acrosome reaction (PubMed:34714330).

Q6NXP2 Golgi-associated RAB2 interactor protein 1A from Homo sapiens
Aligns to 117:185 / 309 (22.3%), covers 98.6% of PF12480, 85.9 bits

• Affinity proteomics reveals elevated muscle proteins in plasma of children with cerebral malaria.
  Bachmann, PLoS pathogens 2014
  • “...Q96A19 coiled-coil domain containing 102A HPA040598 EEF2 P13639 eukaryotic translation elongation factor 2 HPA040534 FAM71F2 Q6NXP2 family with sequence similarity 71, member F2 HPA052240 TIPIN Q9BVW5 TIMELESS interacting protein HPA039704 Severe Malaria CEBPA P49715 CCAAT/enhancer binding protein (C/EBP), alpha HPA052734 DAPK1 P53355 death-associated protein kinase 1...”

XP_030111331 protein FAM71F1 isoform X7 from Mus musculus
Aligns to 108:176 / 310 (22.3%), covers 98.6% of PF12480, 85.7 bits

• FAM71F1 binds to RAB2A and RAB2B and is essential for acrosome formation and male fertility in mice.
  Morohoshi, Development (Cambridge, England) 2021
  • GeneRIF: FAM71F1 binds to RAB2A and RAB2B and is essential for acrosome formation and male fertility in mice.

NP_001138874 protein FAM71E2 from Homo sapiens
Q8N5Q1 Golgi-associated RAB2 interactor protein 5B from Homo sapiens
Aligns to 97:167 / 922 (7.7%), covers 95.8% of PF12480, 85.5 bits

• Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
  Bailey, Diabetes care 2010
  • GeneRIF: Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
• Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
  Talmud, American journal of human genetics 2009
  • GeneRIF: Observational study of gene-disease association. (HuGE Navigator)
• The ribosome inhibitor chloramphenicol induces motility deficits in human spermatozoa: A proteomic approach identifies potentially involved proteins.
  Bisconti, Frontiers in cell and developmental biology 2022
  • “...2 1.47 0.034 Q9BWH2 FUN14 domain-containing protein 2 FUNDC2 2 1.45 0.0098 2 1.30 0.022 Q8N5Q1 Golgi associated RAB2 interactor protein 5B GARIN5B 4 1.41 0.017 P55789 FAD-linked sulfhydryl oxidase ALR GFER 3 1.39 0.0032 Q2M243 Coiled-coil domain-containing protein 27 CCDC27 3 1.39 0.029 Q8NFH5 Nucleoporin...”
• Zona pellucida-binding protein 2 (ZPBP2) and several proteins containing BX7B motifs in human sperm may have hyaluronic acid binding or recognition properties
  Torabi, Molecular human reproduction 2017
  • “...2 ZPBP2 Link-like domain Q86YZ3 hornerin HRNR N/D Q8N5Q1 family with sequence similarity 71, member E2 FAM71E2 BX7B (3) Q8TC27 ADAM metallopeptidase domain 32...”

GAR2_MOUSE / D3YV92 Golgi-associated RAB2 interactor protein 2 from Mus musculus (Mouse) (see paper)
Aligns to 114:184 / 440 (16.1%), covers 98.6% of PF12480, 83.4 bits

• function: Seems to play a role in sperm motility.
  subunit: Interacts with CALM1.
• Identification of tissue-enriched novel transcripts and novel exons in mice.
  Hong, BMC genomics 2014
  • “...Different 5UTR tNE-3 Skp2 chr15:9082539-9082780 242 - Q9Z0Z3 Different 5UTR tNE-4 Fam71d chr12:79824797-79824939 143 + D3YV92 26 shorter AA, different C term tNE-5 Fam71d chr12:79796826-79797030 205 + D3YV92 Different 5UTR tNE-6 Rfx1 chr8:86608465-86608794 330 + tNE-7 Fam71d chr12:79823117-79823280 164 + D3YV92 tNE-8 Pfkm chr15:97925522-97925641 120 +...”

GAR2_HUMAN / Q8N9W8 Golgi-associated RAB2 interactor protein 2 from Homo sapiens (Human) (see paper)
XP_011534805 protein FAM71D isoform X1 from Homo sapiens
Aligns to 115:185 / 422 (16.8%), covers 97.2% of PF12480, 83.3 bits

• function: Seems to play a role in sperm motility.
  subunit: Interacts with CALM1.
• The expression characteristics of FAM71D and its association with sperm motility.
  Ma, Human reproduction (Oxford, England) 2017 (PubMed)
  • GeneRIF: Our results showed that FAM71D was exclusively expressed in the testis in an age-dependent manner. FAM71D expression exhibited dynamic change in the cytoplasm of spermatids during spermiogenesis and was finally retained in sperm flagella. FAM71D could interact with calmodulin.
• Next-generation sequencing reveals novel rare fusion events with functional implication in prostate cancer.
  Teles, Oncogene 2015 (PubMed)
  • GeneRIF: The unique in-frame MPP5-FAM71D fusion product is important for proliferation of PC346C cells.

GAR5A_MOUSE / A1L3C1 Golgi-associated RAB2 interactor protein 5A; Golgi-associated RAB2B interactor-like 5; GARIL5 from Mus musculus (Mouse) (see paper)
Aligns to 93:160 / 212 (32.1%), covers 85.9% of PF12480, 61.9 bits

• function: RAB2B effector protein which promotes cytosolic DNA-induced innate immune responses. Regulates IFN responses against DNA viruses by regulating the CGAS-STING signaling axis.
  subunit: Interacts (via N-terminus) with RAB2B (in GTP-bound form).

XP_030098915 protein FAM71E1 isoform X10 from Mus musculus
Aligns to 1:63 / 175 (36.0%), covers 84.5% of PF12480, 61.7 bits

• The RAB2B-GARIL5 Complex Promotes Cytosolic DNA-Induced Innate Immune Responses.
  Takahama, Cell reports 2017
  • GeneRIF: the RAB2B-GARIL5 complex promotes IFN responses against DNA viruses by regulating the cGAS-STING signaling axis.

NP_001269718 protein FAM71F1 isoform 3 from Homo sapiens
Aligns to 57:109 / 243 (21.8%), covers 63.4% of PF12480, 57.6 bits

• Body Adiposity Changes After Lifestyle Interventions in Children/Adolescents and the NYD-SP18 and TMEM18 Variants.
  Zlatohlavek, Medical science monitor : international medical journal of experimental and clinical research 2018
  • GeneRIF: Decreased body weight in overweight/obese children is not significantly influenced by the NYD-SP18 rs6971091 or TMEM18 rs4854344 polymorphisms. Gene Indexing Project Expand All Collapse All Decreased body weight in overweight/obese children is not significantly influenced by the NYD-SP18 rs6971091 or TMEM18 rs4854344 polymorphisms.
• Lack of Association between NYD-SP18 Variant and Obesity. The Health Alcohol and Psychosocial Factors in Eastern Europe Study.
  Hubacek, Annals of nutrition & metabolism 2016
  • GeneRIF: genetic association studies in populations in Eastern Europe (Czech Republic, Lithuania, Poland, and Russia): Data suggest that an SNP in NYD-SP18 (rs6971091) is not associated with overweight/obesity in the adult populations studied (aged 45-75).
• Strong gender-specific additive effects of the NYD-SP18 and FTO variants on BMI values.
  Hubacek, Physiological research 2015 (PubMed)
  • GeneRIF: Genetic variants within NYD-SP18 genes revealed a significant additive effect on BMI values in males.
• Body Composition Changes in Adult Females after Lifestyle Intervention Are Influenced by the NYD-SP18 Variant.
  Suchánek, Central European journal of public health 2015 (PubMed)
  • GeneRIF: Overweight/obese female carriers of the NYD-SP18 rs6971091 GG genotype exhibited a more beneficial response to the intensive lifestyle intervention than others.
• NYD-SP18 is associated with obesity in the NHLBI Family Heart Study.
  Wilk, International journal of obesity (2005) 2008
  • GeneRIF: The effect of the NYD-SP18 SNP on obesity was larger than the effect of FTO in FHS. The NYD-SP18 gene is described as testes development related, but little is known about the gene's function or the mechanism by which it may influence risk for obesity.
  • GeneRIF: Observational study of gene-disease association. (HuGE Navigator)

NP_612420 protein FAM71E1 isoform 2 from Homo sapiens
Aligns to 159:225 / 231 (29.0%), covers 78.9% of PF12480, 53.1 bits

• The RAB2B-GARIL5 Complex Promotes Cytosolic DNA-Induced Innate Immune Responses.
  Takahama, Cell reports 2017
  • GeneRIF: The RAB2B-GARIL5 complex promotes cytosolic DNA-induced innate immune responses (Golgi-associated Rab2B interactor-like 5 = GARIL5, also known as FAM71E1)

Q6IPT2 Golgi-associated RAB2 interactor protein 5A from Homo sapiens
Aligns to 175:241 / 247 (27.1%), covers 78.9% of PF12480, 52.9 bits

• Predicting Functions of Uncharacterized Human Proteins: From Canonical to Proteoforms.
  Poverennaya, Genes 2020
  • “...was assigned for the largest number of proteins (24 proteins). For 10 proteins (A2RUT3, A6PVS8, Q6IPT2, Q6IPT2-2, Q7Z5L2, Q8N3J3, Q8N3J3-3, Q8TD91, Q8TD91-2, Q9HA90), a combination of biological processes including proteolysis (GO:0006508), cognition (GO:0050890), and regulation of cell migration (GO:0030334) was predicted. For 19 proteins (rightmost column),...”
  • “...for 93 uPE1 proteins. * denotes the following set of proteins: A2RUT3, A6PVS8, Q2NL68, Q4KMZ1, Q6IPT2, Q6IPT2-2, Q7Z5L2, Q8N3J3, Q8N3J3-3, Q8TD91, Q8TD91-2, Q9H741, Q9HA90, Q9NWQ9. ** denotes the following set of proteins: Q0P6D6, Q2M3V2, Q53LP3, Q68CR1, Q6P995, Q6ZRI6-2, Q86X40, Q8IV32, Q8IW50, Q8N6V9, Q8NCJ5, Q8NCT3, Q8NCU4, Q8NEF3,...”

Or search for genetic data about PF12480 in the Fitness Browser