Family Search for PF06565 (DUF1126)
PF06565.12 hits 22 sequences in PaperBLAST's database above the trusted cutoff. Showing all hits. Or show only hits to curated sequences or try another family.
XP_018117414 EF-hand domain (C-terminal) containing 1 L homeolog isoform X1 from Xenopus laevis
3 alignments in 86:513 / 551 (59.7%), covering up to 100.0% of PF06565, 346.9 bits
EFHC1_HUMAN / Q5JVL4 EF-hand domain-containing protein 1; Myoclonin-1 from Homo sapiens (Human) (see 8 papers)
NP_060570 EF-hand domain-containing protein 1 isoform 1 from Homo sapiens
3 alignments in 86:512 / 640 (51.4%), covering up to 100.0% of PF06565, 336.3 bits
- function: Microtubule-associated protein which regulates cell division and neuronal migration during cortical development. Necessary for mitotic spindle organization (PubMed:19734894, PubMed:28370826). Necessary for radial and tangential cell migration during brain development, possibly acting as a regulator of cell morphology and process formation during migration (PubMed:22926142). May enhance calcium influx through CACNA1E and stimulate programmed cell death (PubMed:15258581).
subunit: Interacts with the C-terminus of CACNA1E (PubMed:15258581). Interacts with alpha-tubulin (PubMed:19734894). - EFHC1 variants in juvenile myoclonic epilepsy: reanalysis according to NHGRI and ACMG guidelines for assigning disease causality.
Bailey, Genetics in medicine : official journal of the American College of Medical Genetics 2017 (PubMed)- GeneRIF: NHGRI gene-level evidence and variant-level evidence establish EFHC1 as the first non-ion channel microtubule-associated protein whose mutations disturb R-type VDCC and TRPM2 calcium currents in overgrown synapses and dendrites within abnormally migrated dislocated neurons, thus explaining CTC convulsions and "microdysgenesis" neuropathology of juvenile myoclonic epilepsy
- Microtubule-associated defects caused by EFHC1 mutations in juvenile myoclonic epilepsy.
Raju, Human mutation 2017 (PubMed)- GeneRIF: EFHC1 mutations cause microtubule-associated defects in juvenile myoclonic epilepsy
- Pathogenic EFHC1 mutations are tolerated in healthy individuals dependent on reported ancestry.
Subaran, Epilepsia 2015 - GeneRIF: some EFHC1 mutations may be pathogenic only when introduced into specific genetic backgrounds to juvenile myoclonic epilepsy
- The quest for juvenile myoclonic epilepsy genes.
Delgado-Escueta, Epilepsy & behavior : E&B 2013 (PubMed)- GeneRIF: Myoclonin1/EFHC1 mutation was suggested releated to juvenile myoclonic epilepsy.
- Juvenile myoclonic epilepsy as a possible neurodevelopmental disease: role of EFHC1 or Myoclonin1.
de, Epilepsy & behavior : E&B 2013 (PubMed)- GeneRIF: Three SNP alleles in BRD2, Cx-36, and ME2 and microdeletions in 15q13.3, 15q11.2, and 16p13.11 also contribute risk to juvenile myclonic epilepsy.
- The juvenile myoclonic epilepsy-related protein EFHC1 interacts with the redox-sensitive TRPM2 channel linked to cell death.
Katano, Cell calcium 2012 (PubMed)- GeneRIF: The juvenile myoclonic epilepsy-related protein EFHC1 interacts with the redox-sensitive TRPM2 channel linked to cell death.
- Intractable epilepsy of infancy due to homozygous mutation in the EFHC1 gene.
Berger, Epilepsia 2012 (PubMed)- GeneRIF: homozygous Phe229Leu mutation associated with primary intractable epilepsy in infancy
- Novel Myoclonin1/EFHC1 mutations in Mexican patients with juvenile myoclonic epilepsy.
Jara-Prado, Seizure 2012 (PubMed)- GeneRIF: we conclude that mutations in the Myoclonin1/EFHC1 gene are an important cause of juvenile myoclonic epilepsy in Mexican patients.
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NP_001116419 EF-hand domain-containing protein 1 from Rattus norvegicus
3 alignments in 86:512 / 648 (50.8%), covering up to 100.0% of PF06565, 336.2 bits
EFHC1_MOUSE / Q9D9T8 EF-hand domain-containing protein 1; Myoclonin-1 from Mus musculus (Mouse) (see 2 papers)
3 alignments in 86:512 / 648 (50.8%), covering up to 100.0% of PF06565, 334.4 bits
- function: Microtubule-associated protein which regulates cell division and neuronal migration during cortical development. Necessary for mitotic spindle organization. Necessary for radial and tangential cell migration during brain development, possibly acting as a regulator of cell morphology and process formation during migration (By similarity). May enhance calcium influx through CACNA1E and stimulate programmed cell death. Overexpression of EFHC1 in hippocampal primary culture neurons induced apoptosis.
subunit: Interacts with the C-terminus of CACNA1E. InteractS with alpha-tubulin.
FLJ22843 hypothetical protein FLJ22843 from Homo sapiens
Q5JST6 EF-hand domain-containing family member C2 from Homo sapiens
4 alignments in 68:530 / 749 (49.1%), covering up to 100.0% of PF06565, 320.0 bits
I7M0S7 Flagellar microtugule protofilament ribbon protein from Tetrahymena thermophila (strain SB210)
TTHERM_00143690 flagellar microtugule protofilament ribbon protein from Tetrahymena thermophila SB210
3 alignments in 82:512 / 613 (51.9%), covering up to 99.0% of PF06565, 313.9 bits
- Subnanometre-resolution structure of the doublet microtubule reveals new classes of microtubule-associated proteins
Ichikawa, Nature communications 2017 - “...for statistical treatment and data visualization. Among proteins identified, we detected homologues of Rib72 (UniprotId I7M0S7 & I7MCU1), Rib43a (A4VDZ5 & Q240R7), FAP20 (Q22NU3), PACRG (I7M317 & I7MLV6), FAP59 (Q23BW0) and FAP172 (Q233L0). Data availability EM reconstructions and refined tubulin models are available in the Electron...”
- The inner junction complex of the cilia is an interaction hub that involves tubulin post-translational modifications
Khalifa, eLife 2020 - “...215.59 TBA_TETTH TUBA1C Doublet TUB1 50 625.46 125.09 TBB_TETTH TUBB4B Doublet RIB72 72 116.72 16.21 TTHERM_00143690 EFHC1 MIP PACRG 25 38.39 15.35 TTHERM_00446290 PACRG IJ PF16 50 74.09 14.82 TTHERM_000157929 SPAG6 Central Pair RSP9 30 41.79 13.93 TTHERM_00430020 RSPH9 Radial Spoke FAP86 30 36.11 12.04 -...”
- Tetrahymena RIB72A and RIB72B are microtubule inner proteins in the ciliary doublet microtubules
Stoddard, Molecular biology of the cell 2018 - “...Tetrahymena There are two genes encoding RIB72 in the genome of T. thermophila : RIB72A TTHERM_00143690 ) and RIB72B ( TTHERM_00584850 ) ( Eisen etal. , 2006 ). Previous proteomics studies revealed RIB72A protein as a basal body component in Tetrahymena ( Kilburn etal. , 2007...”
- “...mating strains CU428 and B2068 (obtained from the Tetrahymena Stock Center, Cornell University). RIB72A ( TTHERM_00143690 ) was interrupted by insertion of neo3 cassette ( Shang etal. , 2002 ), while RIB72B ( TTHERM_00584850 ) was disrupted by neo4 ( Mochizuki, 2008 ). Single- and double-knockout...”
- Mining the Giardia genome and proteome for conserved and unique basal body proteins
Lauwaet, International journal for parasitology 2011 - “.../ Calmodulin BB, pPFR, MB / BB, C 28, 36, Fig. 2A 104685, 5333 Bbc73 TTHERM_00143690 T 4 41512(3.2e-270) Flagella associated protein BB, C Fig. 2A 41512 POC9/Rib72 NP_060570.2 H 5 41512(9.2e-263) Flagella associated protein BB, C Fig. 2A 41512 Tubulins and ring complex components alpha...”
PITG_07886 EF-hand domain-containing protein, putative from Phytophthora infestans T30-4
3 alignments in 69:529 / 621 (54.9%), covering up to 99.0% of PF06565, 292.4 bits
TTHERM_00584850 EF-hand protein from Tetrahymena thermophila SB210
I7MCU1 EF-hand protein from Tetrahymena thermophila (strain SB210)
3 alignments in 89:506 / 516 (60.1%), covering up to 99.0% of PF06565, 286.6 bits
- Tetrahymena RIB72A and RIB72B are microtubule inner proteins in the ciliary doublet microtubules
Stoddard, Molecular biology of the cell 2018 - “...encoding RIB72 in the genome of T. thermophila : RIB72A TTHERM_00143690 ) and RIB72B ( TTHERM_00584850 ) ( Eisen etal. , 2006 ). Previous proteomics studies revealed RIB72A protein as a basal body component in Tetrahymena ( Kilburn etal. , 2007 ). We expressed RIB72A-mCherry fusion...”
- “...interrupted by insertion of neo3 cassette ( Shang etal. , 2002 ), while RIB72B ( TTHERM_00584850 ) was disrupted by neo4 ( Mochizuki, 2008 ). Single- and double-knockout homozygous heterokaryons were obtained by crosses as previously described ( Dave etal. , 2009 ). Genotyping of heterokaryon...”
- Subnanometre-resolution structure of the doublet microtubule reveals new classes of microtubule-associated proteins
Ichikawa, Nature communications 2017 - “...treatment and data visualization. Among proteins identified, we detected homologues of Rib72 (UniprotId I7M0S7 & I7MCU1), Rib43a (A4VDZ5 & Q240R7), FAP20 (Q22NU3), PACRG (I7M317 & I7MLV6), FAP59 (Q23BW0) and FAP172 (Q233L0). Data availability EM reconstructions and refined tubulin models are available in the Electron Microscopy Data...”
PITG_04513 RIB72 protein from Phytophthora infestans T30-4
3 alignments in 81:525 / 531 (60.3%), covering up to 100.0% of PF06565, 270.5 bits
GL50803_41512 Flagella associated protein from Giardia lamblia ATCC 50803
3 alignments in 150:623 / 647 (52.9%), covering up to 99.0% of PF06565, 265.1 bits
- Eight unique basal bodies in the multi-flagellated diplomonad Giardia lamblia
McInally, Cilia 2016 - “...All basal bodies PRO, EPI GL50803_4692 Hypothetical protein None None All basal bodies PRO, EPI GL50803_41512 Flagella associated protein Rib72 DUF1126 domain of unknown function PF06565 All basal bodies, cytoplasm PRO, EPI GL50803_114546 Hypothetical protein None None All basal bodies, all cytoplasmic axonemes GFP GL50803_3582 DUF390...”
- Mining the Giardia genome and proteome for conserved and unique basal body proteins
Lauwaet, International journal for parasitology 2011 - “...for Gene IDs GL50803_104685, GL50803_6744, GL50803_16973, GL50803_4689, GL50803_4692, GL50803_11867, GL50803_13352, GL50803_15218, GL50803_16279, GL50803_92498, GL50803_104150, GL50803_12057, GL50803_41512, GL50803_16202, GL50803_14373, GL50803_134441, GL50803_11992, and GL50803_15455 were amplified from G. lamblia strain WB clone C6 genomic DNA with appropriate primers ( Supplementary Table S2 ) (see www.giardiadb.org for gene details)....”
- “...between calmodulin and other basal body proteins. We also identified another EF-hand protein (Gene ID GL50803_41512) in the BBEF proteome, currently annotated as flagella associated protein, that is homologous to the protofilament ribbon protein Rib72/POC9 in Chlamydomonas , and basal body component 73 (Bbc73) in Tetrahymena...”
XP_001698964 DM10 domain-containing protein from Chlamydomonas reinhardtii
3 alignments in 123:529 / 714 (46.4%), covering up to 97.1% of PF06565, 242.1 bits
- Proteomic analysis of isolated ciliary transition zones reveals the presence of ESCRT proteins
Diener, Current biology : CB 2015 - “...1e-137 DNA damage inducible protein RP_DDI, UBQ, UBA XP_001698476 CAD67552.1 3e-61 DM10 domain-containing protein DUF1126 XP_001698964 NP_060570.2 2e-72 FOX1 Multicopper ferroxidase XP_001694585 EAX05385.1 1e-156 Predicted protein C2 XP_001699936 BAF82219.1 2e-11 Predicted protein CDC50, LEM3 XP_001695413 NP_001017970.1 7e-44 Predicted protein Dzip-like_N, ApoLp-III_like XP_001689748 AAH33308.1 9e-16 Predicted protein...”
XP_006724625 EF-hand domain-containing family member C2 isoform X2 from Homo sapiens
3 alignments in 23:334 / 553 (47.2%), covering up to 100.0% of PF06565, 221.4 bits
- A novel contiguous deletion involving NDP, MAOB and EFHC2 gene in a patient with familial Norrie disease: bilateral blindness and leucocoria without other deficits.
Jia, Journal of genetics 2017 (PubMed)- GeneRIF: Our observations provide new information on the genotype-phenotype relations of MAOA/B and EFHC2 genes involved in the contiguous deletions of Norrie disease.Based on the case of our observation, contiguous deletion with only one of the MAO genes (MAOB) may not cause psychomotor disability, and deletion of EFHC2may not contribute to epilepsy.
- Variation in the X-linked EFHC2 gene is associated with social cognitive abilities in males.
Startin, PloS one 2015 - GeneRIF: EFHC2 variation at SNP rs7055196 is associated with social cognitive abilities in males
- No relation between EFHC2 gene polymorphism and Idiopathic generalized epilepsy.
Berrin, African health sciences 2015 - GeneRIF: In our series of 96 IGE patients and 96 healthy controls, there was no relation between S430Y polymorphism in EFHC2 gene and IGE presence.
- Preliminary evidence of association between EFHC2, a gene implicated in fear recognition, and harm avoidance.
Blaya, Neuroscience letters 2009 (PubMed)- GeneRIF: This study found that the association between a variant in EFHC2 with the processing of fear and social threat and harm reduction.
- GeneRIF: Observational study of gene-disease association. (HuGE Navigator)
- EFHC2 SNP rs7055196 is not associated with fear recognition in 45,X Turner syndrome.
Zinn, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2008 (PubMed)- GeneRIF: no evidence of an association between rs7055196 genotype and fear recognition
- GeneRIF: Observational study of gene-disease association. (HuGE Navigator)
- Identification of EFHC2 as a quantitative trait locus for fear recognition in Turner syndrome.
Weiss, Human molecular genetics 2007 (PubMed)- GeneRIF: EFHC2 shows genealogy and extended LD consistent with directional selection. This novel QTL may influence social cognition in the general population and in autism.
- A new EF-hand containing gene EFHC2 on Xp11.4: tentative evidence for association with juvenile myoclonic epilepsy.
Gu, Epilepsy research (PubMed)- GeneRIF: An association with the gonosomal gene EFHC2 would be in accordance with the observed preponderance of maternal inheritance in juvenile myoclonic epilepsy maternal inheritance of juvenile myoclonic epilepsy.
NP_509738 EF-Hand domain-Containing protein 1 homolog from Caenorhabditis elegans
2 alignments in 69:314 / 447 (47.0%), covering up to 93.3% of PF06565, 124.9 bits
NP_649926 nmdyn-D7 from Drosophila melanogaster
Aligns to 3:89 / 387 (22.5%), covers 87.6% of PF06565, 38.2 bits
- Nme gene family evolutionary history reveals pre-metazoan origins and high conservation between humans and the sea anemone, Nematostella vectensis
Desvignes, PloS one 2010 - “...XP_001626602 125694 Scaffold_222 17,37924,092 T. castaneum Nme7 XP_974333 Linkage Group 7 18,619,00818,620,171 D. melanogaster Nme7 NP_649926 FBpp0081561 Chr 3R 5,505,6635,507,224 A. aegypti Nme7 XP_001661412 AAEL011098-PA SuperContig1.541 206,988220,408 L. gigantea Nme7 187020 Scaffold_18 1,179,8801,185,739 C. teleta Nme7 160391 Scaffold_422 28,19233,650 S. purpuratus Nme7 XP_795051 Scaffold9766 108,673117,014 C....”
XP_001626602 nucleoside diphosphate kinase 7 from Nematostella vectensis
Aligns to 3:84 / 376 (21.8%), covers 88.6% of PF06565, 29.5 bits
- Nme gene family evolutionary history reveals pre-metazoan origins and high conservation between humans and the sea anemone, Nematostella vectensis
Desvignes, PloS one 2010 - “...Nme7 XP_001749106 11267 Scaffold_27 519,462520,004 T. adhaerens Nme7 XP_002108466 51403 Scaffold_1 1,598,7311,601,855 N. vectensis Nme7 XP_001626602 125694 Scaffold_222 17,37924,092 T. castaneum Nme7 XP_974333 Linkage Group 7 18,619,00818,620,171 D. melanogaster Nme7 NP_649926 FBpp0081561 Chr 3R 5,505,6635,507,224 A. aegypti Nme7 XP_001661412 AAEL011098-PA SuperContig1.541 206,988220,408 L. gigantea Nme7 187020...”
NP_988903 nucleoside diphosphate kinase 7 from Xenopus tropicalis
Aligns to 2:83 / 376 (21.8%), covers 86.7% of PF06565, 27.6 bits
- Nme gene family evolutionary history reveals pre-metazoan origins and high conservation between humans and the sea anemone, Nematostella vectensis
Desvignes, PloS one 2010 - “...XP_002588622 287848 Scaffold_254 342,459356,708 H. sapiens NME7 NP_037462 ENSP00000356785 Chr 1 169,101,769169,337,205 X. tropicalis Nme7 NP_988903 ENSXETP00000005150 Scaffold_169 1,646,1651,680,298 D. rerio Nme7 NP_571004 ENSDARP00000073091 Chr 6 31,135,86731,196,533 Nme8 M. brevicollis Nme8 XP_001746342 32671 Scaffold_12 606,463609,773 T. adhaerens Nme8 XP_002110931 22954 Scaffold_3 3,392,4603,393,060 N. vectensis Nme8 XP_001634297...”
- Nme protein family evolutionary history, a vertebrate perspective
Desvignes, BMC evolutionary biology 2009 - “...Chr 1 87,015,645-87,088,484 Nme7 A. carolinensis Nme7 NDK-7 ENSACAP00000008165 Scaffold_2735 3,138-10,113 X. tropicalis Nme7 MGC75677 NP_988903 ENSXETP00000005150 Scaffold_169 1,646,165-1,680,298 D. rerio Nme7 Ndpkz4; Ndpkz7 NP_571004 ENSDARP00000073091 Chr 6 20,659,126-20,718,810 O. latipes Nme7 DK039970 * ENSORLP00000019661 Chr 4 29,680,976-29,697,346 G. aculeatus Nme7 NDK 7 ENSGACP00000018067 GroupVIII 17,708,704-17,717,807...”
NP_571004 nucleoside diphosphate kinase 7 from Danio rerio
Aligns to 2:81 / 374 (21.4%), covers 83.8% of PF06565, 26.7 bits
- Nme gene family evolutionary history reveals pre-metazoan origins and high conservation between humans and the sea anemone, Nematostella vectensis
Desvignes, PloS one 2010 - “...NP_037462 ENSP00000356785 Chr 1 169,101,769169,337,205 X. tropicalis Nme7 NP_988903 ENSXETP00000005150 Scaffold_169 1,646,1651,680,298 D. rerio Nme7 NP_571004 ENSDARP00000073091 Chr 6 31,135,86731,196,533 Nme8 M. brevicollis Nme8 XP_001746342 32671 Scaffold_12 606,463609,773 T. adhaerens Nme8 XP_002110931 22954 Scaffold_3 3,392,4603,393,060 N. vectensis Nme8 XP_001634297 101462 Scaffold_61 602,301615,863 T. castaneum TRX-Nme8 XP_972627...”
- Nme protein family evolutionary history, a vertebrate perspective
Desvignes, BMC evolutionary biology 2009 - “...Scaffold_2735 3,138-10,113 X. tropicalis Nme7 MGC75677 NP_988903 ENSXETP00000005150 Scaffold_169 1,646,165-1,680,298 D. rerio Nme7 Ndpkz4; Ndpkz7 NP_571004 ENSDARP00000073091 Chr 6 20,659,126-20,718,810 O. latipes Nme7 DK039970 * ENSORLP00000019661 Chr 4 29,680,976-29,697,346 G. aculeatus Nme7 NDK 7 ENSGACP00000018067 GroupVIII 17,708,704-17,717,807 T. rubripes Nme7 NDK 7 ENSTRUP00000012937 Scaffold_13 352,791-361,358 T....”
XP_001568488 putative nucleoside diphosphate kinase from Leishmania braziliensis MHOM/BR/75/M2904
Aligns to 5:82 / 337 (23.1%), covers 71.4% of PF06565, 26.0 bits
NDK7_RAT / Q9QXL7 Nucleoside diphosphate kinase 7; NDK 7; NDP kinase 7; nm23-R7; EC 2.7.4.6 from Rattus norvegicus (Rat) (see paper)
NP_612541 nucleoside diphosphate kinase 7 from Rattus norvegicus
Aligns to 16:102 / 395 (22.0%), covers 90.5% of PF06565, 25.5 bits
- function: Major role in the synthesis of nucleoside triphosphates other than ATP. The ATP gamma phosphate is transferred to the NDP beta phosphate via a ping-pong mechanism, using a phosphorylated active-site intermediate
catalytic activity: a 2'-deoxyribonucleoside 5'-diphosphate + ATP = a 2'- deoxyribonucleoside 5'-triphosphate + ADP (RHEA:44640)
catalytic activity: a ribonucleoside 5'-diphosphate + ATP = a ribonucleoside 5'- triphosphate + ADP (RHEA:18113)
cofactor: Mg(2+) - Expression profiling of Nme7 interactome in experimental models of metabolic syndrome.
Šedová, Physiological research 2018 (PubMed)- GeneRIF: ln a rat model of metabolic syndrome, expression of Nme7 may have relevance for carbohydrate and lipid metabolism as well as ciliogenesis.
Q6PAG9 Nucleoside diphosphate kinase 7 from Rattus norvegicus
Aligns to 16:102 / 395 (22.0%), covers 90.5% of PF06565, 25.5 bits
PITG_03634 nucleoside diphosphate kinase, putative from Phytophthora infestans T30-4
Aligns to 1:82 / 339 (24.2%), covers 87.6% of PF06565, 24.2 bits
NP_612187 nucleoside diphosphate kinase 7 isoform 1 from Mus musculus
Aligns to 16:102 / 395 (22.0%), covers 90.5% of PF06565, 23.2 bits
- Nme protein family evolutionary history, a vertebrate perspective
Desvignes, BMC evolutionary biology 2009 - “...H. sapiens NME7 NDK-7; NM23-H7 NP_037462 ENSP00000356785 Chr 1 167,368,399-167,603,810 M. musculus Nme7 NDK-7; Nm23-M7 NP_612187 ENSMUSP00000027862 Chr 1 166,237,803-166,334,805 G. gallus Nme7 NDK-7 ENSGALP00000024531 Chr 1 87,015,645-87,088,484 Nme7 A. carolinensis Nme7 NDK-7 ENSACAP00000008165 Scaffold_2735 3,138-10,113 X. tropicalis Nme7 MGC75677 NP_988903 ENSXETP00000005150 Scaffold_169 1,646,165-1,680,298 D. rerio...”
Or search for genetic data about PF06565 in the Fitness Browser
by Morgan Price,
Arkin group
Lawrence Berkeley National Laboratory