Family Search for PF12480 (GARIL_Rab2_bd)

PF12480 hits 18 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, 103.8 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).
• 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
  • “...Sperm/oocyte interaction Q8IYQ7 THNSL1 Threonine synthase-like 1 3 [ 26 55 ] - - - Q8TC56 GARIN3 Golgi-associated RAB2 interactor protein 3 3 [ 26 31 48 ] Testis (enriched) - - Q8TDY3 ACTRT2 Actin-related protein T2 3 [ 26 33 48 ] Testis (enriched) -...”
  • “...and 2, obesity [ 37 ]; Severe OAT [ 38 ] Testis (enhanced) - - Q8TC56 GARIN3 Golgi-associated RAB2 interactor protein 3 7 GZS [ 53 ]; RPL [ 57 ]; Hyperthermia [ 52 ]; AZS [ 26 31 48 ] Severe OAT [ 38 ]...”
• 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, 102.5 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, 100.5 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, 98.4 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...”

Q96KD3 Golgi-associated RAB2 interactor protein 1B from Homo sapiens
Aligns to 140:208 / 344 (20.1%), covers 98.6% of PF12480, 92.9 bits

• Proteomics and Metabolomics Analysis Reveals the Toxicity of ZnO Quantum Dots on Human SMMC-7721 Cells.
  Yang, International journal of nanomedicine 2023
  • “...1 DCBD1 Up P36894 Bone morphogenetic protein receptor type-1A BMR1A Up Q9ULJ8 Neurabin-1 NEB1 Up Q96KD3 Protein FAM71F1 F71F1 Up Q16650 T-box brain protein 1 TBR1 Up P04264 Keratin, type II cytoskeletal 1 K2C1 Up Q8IWV8 E3 ubiquitin-protein ligase UBR2 UBR2 Up Q9UHR6 Zinc finger HIT...”
• 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, 92.3 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).

Q6NXP2 Golgi-associated RAB2 interactor protein 1A from Homo sapiens
Aligns to 117:185 / 309 (22.3%), covers 98.6% of PF12480, 89.7 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...”

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, 89.4 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).

XP_030111331 Golgi-associated RAB2 interactor protein 1B isoform X7 from Mus musculus
Aligns to 108:176 / 310 (22.3%), covers 98.6% of PF12480, 88.7 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.

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 Golgi-associated RAB2 interactor protein 4 from Homo sapiens
Aligns to 115:184 / 594 (11.8%), covers 97.2% of PF12480, 88.3 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
• 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
  • “...]; AZS [ 31 ]; Severe OAT [ 38 ] Testis (enriched) - Cell differentiation Q8IYT1 GARIN4 Golgi-associated RAB2 interactor protein 4 5 GZS [ 53 ]; Hypertermia [ 52 ]; Severe OAT [ 38 ]; AZS [ 26 48 ] Testis (enriched) - - Q96QE4...”
• 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...”

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, 84.4 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 Golgi-associated RAB2 interactor protein 2 isoform X1 from Homo sapiens
Aligns to 115:185 / 422 (16.8%), covers 97.2% of PF12480, 83.9 bits

• function: Seems to play a role in sperm motility.
  subunit: Interacts with CALM1.
• Deleterious variant in FAM71D cause male infertility with asthenoteratospermia.
  Zhu, Molecular genetics and genomics : MGG 2024 (PubMed)
  • GeneRIF: Deleterious variant in FAM71D cause male infertility with asthenoteratospermia.
• FAM71D is dispensable for spermatogenesis and male fertility in mice.
  Mo, Molecular reproduction and development 2023 (PubMed)
  • GeneRIF: FAM71D is dispensable for spermatogenesis and male fertility in mice.
• 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.

NP_001138874 Golgi-associated RAB2 interactor protein 5B 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, 83.3 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...”

NP_001269718 Golgi-associated RAB2 interactor protein 1B isoform 3 from Homo sapiens
Aligns to 57:109 / 243 (21.8%), covers 63.4% of PF12480, 60.3 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)

GAR5A_MOUSE / A1L3C1 Golgi-associated RAB2 interactor protein 5A; Golgi-associated RAB2B interactor-like 5; GARIL5 from Mus musculus (Mouse) (see 2 papers)
Aligns to 93:160 / 212 (32.1%), covers 88.7% of PF12480, 60.2 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 Golgi-associated RAB2 interactor protein 5A isoform X10 from Mus musculus
Aligns to 1:63 / 175 (36.0%), covers 84.5% of PF12480, 59.9 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_612420 Golgi-associated RAB2 interactor protein 5A isoform 2 from Homo sapiens
Aligns to 159:225 / 231 (29.0%), covers 78.9% of PF12480, 52.8 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, 52.7 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