Q9Y4F4 · TGRM1_HUMAN
- ProteinTOG array regulator of axonemal microtubules protein 1
- GeneTOGARAM1
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids1720 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Function
function
Involved in ciliogenesis (PubMed:32453716).
It is required for appropriate acetylation and polyglutamylation of ciliary microtubules, and regulation of cilium length (PubMed:32453716).
Interacts with microtubules and promotes microtubule polymerization via its HEAT repeat domains, especially those in TOG region 2 and 4 (By similarity).
It is required for appropriate acetylation and polyglutamylation of ciliary microtubules, and regulation of cilium length (PubMed:32453716).
Interacts with microtubules and promotes microtubule polymerization via its HEAT repeat domains, especially those in TOG region 2 and 4 (By similarity).
GO annotations
all annotations | all molecular function | virus receptor activity | dna binding | rna binding | cytoskeletal motor activity | catalytic activity | gtpase activity | structural molecule activity | transporter activity | cytoskeletal protein binding | lipid binding | cyclase activity | antioxidant activity | oxidoreductase activity | transferase activity | hydrolase activity | lyase activity | isomerase activity | ligase activity | protein tag activity | cargo receptor activity | histone binding | protein folding chaperone | translation regulator activity | nutrient reservoir activity | receptor ligand activity | molecular transducer activity | molecular adaptor activity | toxin activity | cell adhesion mediator activity | molecular function regulator activity | virus coreceptor activity | catalytic activity, acting on a protein | catalytic activity, acting on dna | catalytic activity, acting on rna | molecular carrier activity | transcription regulator activity | general transcription initiation factor activity | molecular sensor activity | molecular sequestering activity | atp-dependent activity | other molecular function | all biological process | mitotic cell cycle | cytokinesis | cytoplasmic translation | immune system process | muscle system process | circulatory system process | renal system process | respiratory system process | carbohydrate metabolic process | generation of precursor metabolites and energy | dna replication | dna repair | dna recombination | chromatin organization | dna-templated transcription | regulation of dna-templated transcription | trna metabolic process | protein folding | protein glycosylation | amino acid metabolic process | modified amino acid metabolic process | lipid metabolic process | vitamin metabolic process | sulfur compound metabolic process | intracellular protein transport | nucleocytoplasmic transport | autophagy | inflammatory response | mitochondrion organization | cytoskeleton organization | microtubule-based movement | peroxisome organization | lysosome organization | chromosome segregation | cell adhesion | establishment or maintenance of cell polarity | programmed cell death | photosynthesis | mrna metabolic process | snrna metabolic process | vesicle-mediated transport | reproductive process | digestive system process | signaling | cell differentiation | protein catabolic process | extracellular matrix organization | regulatory ncrna-mediated gene silencing | telomere organization | cell junction organization | wound healing | ribosome biogenesis | cilium organization | anatomical structure development | cell motility | nervous system process | endocrine process | protein maturation | transmembrane transport | nucleobase-containing small molecule metabolic process | hepaticobiliary system process | membrane organization | protein-containing complex assembly | cell wall organization or biogenesis | nitrogen cycle metabolic process | protein localization to plasma membrane | defense response to other organism | detoxification | meiotic nuclear division | mitotic nuclear division | mitochondrial gene expression | carbohydrate derivative metabolic process | other biological process | all cellular component | nuclear chromosome | extracellular region | extracellular space | cell wall | nucleus | nuclear envelope | nucleoplasm | chromosome | nucleolus | mitochondrion | lysosome | endosome | vacuole | peroxisome | endoplasmic reticulum | golgi apparatus | lipid droplet | microtubule organizing center | cytosol | ribosome | cytoskeleton | plasma membrane | cilium | plastid | thylakoid | external encapsulating structure | extracellular matrix | cytoplasmic vesicle | organelle | other cellular component | |||
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Aspect | Term | |
---|---|---|
Cellular Component | axoneme | |
Cellular Component | ciliary basal body | |
Cellular Component | cilium | |
Cellular Component | cytoplasmic microtubule | |
Molecular Function | microtubule binding | |
Biological Process | axoneme assembly | |
Biological Process | cilium assembly | |
Biological Process | microtubule cytoskeleton organization | |
Biological Process | non-motile cilium assembly | |
Biological Process | positive regulation of microtubule polymerization |
Keywords
- Biological process
Enzyme and pathway databases
Names & Taxonomy
Protein names
- Recommended nameTOG array regulator of axonemal microtubules protein 1
- Alternative names
Gene names
Organism names
- Organism
- Taxonomic lineageEukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Primates > Haplorrhini > Catarrhini > Hominidae > Homo
Accessions
- Primary accessionQ9Y4F4
- Secondary accessions
Proteomes
Organism-specific databases
Subcellular Location
UniProt Annotation
GO Annotation
Note: Detected along the length of primary cilia and at the basal body. Colocalization with the cytoplasmic microtubule cytoskeleton upon heterologous expression is most likely an artifact.
Keywords
- Cellular component
Disease & Variants
Involvement in disease
Joubert syndrome 37 (JBTS37)
- Note
- DescriptionA form of Joubert syndrome, a disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy, renal disease, liver fibrosis, and polydactyly. JBTS37 inheritance is autosomal recessive.
- See alsoMIM:619185
Natural variants in JBTS37
Variant ID | Position(s) | Change | Description | |
---|---|---|---|---|
VAR_085345 | 362-1720 | missing | in JBTS37 | |
VAR_085346 | 368 | R>W | in JBTS37; loss of interaction with ARMC9; dbSNP:rs368448387 | |
VAR_085347 | 371 | A>D | in JBTS37; uncertain significance; dbSNP:rs370676288 | |
VAR_085348 | 375 | L>P | in JBTS37; loss of interaction with ARMC9; dbSNP:rs150433582 | |
VAR_085349 | 1083-1720 | missing | in JBTS37 | |
VAR_085350 | 1207-1720 | missing | in JBTS37 | |
VAR_085351 | 1311 | R>C | in JBTS37; affects ciliogenesis resulting in shorter cilia; does not affect the interaction with ARMC9; dbSNP:rs759684383 | |
VAR_085352 | 1675-1720 | missing | in JBTS37; uncertain significance |
Features
Showing features for natural variant.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Natural variant | VAR_085345 | 362-1720 | in JBTS37 | |||
Sequence: Missing | ||||||
Natural variant | VAR_085346 | 368 | in JBTS37; loss of interaction with ARMC9; dbSNP:rs368448387 | |||
Sequence: R → W | ||||||
Natural variant | VAR_085347 | 371 | in JBTS37; uncertain significance; dbSNP:rs370676288 | |||
Sequence: A → D | ||||||
Natural variant | VAR_085348 | 375 | in JBTS37; loss of interaction with ARMC9; dbSNP:rs150433582 | |||
Sequence: L → P | ||||||
Natural variant | VAR_027739 | 416 | in dbSNP:rs3825629 | |||
Sequence: E → Q | ||||||
Natural variant | VAR_027740 | 511 | in dbSNP:rs3742591 | |||
Sequence: L → V | ||||||
Natural variant | VAR_085349 | 1083-1720 | in JBTS37 | |||
Sequence: Missing | ||||||
Natural variant | VAR_085350 | 1207-1720 | in JBTS37 | |||
Sequence: Missing | ||||||
Natural variant | VAR_085351 | 1311 | in JBTS37; affects ciliogenesis resulting in shorter cilia; does not affect the interaction with ARMC9; dbSNP:rs759684383 | |||
Sequence: R → C | ||||||
Natural variant | VAR_085352 | 1675-1720 | in JBTS37; uncertain significance | |||
Sequence: Missing |
Variants
We now provide the "Disease & Variants" viewer in its own tab.
The viewer provides 2,138 variants from UniProt as well as other sources including ClinVar and dbSNP.
Keywords
- Disease
Organism-specific databases
Miscellaneous
Genetic variation databases
PTM/Processing
Features
Showing features for chain, modified residue (large scale data).
Type | ID | Position(s) | Source | Description | |||
---|---|---|---|---|---|---|---|
Chain | PRO_0000251952 | 1-1720 | UniProt | TOG array regulator of axonemal microtubules protein 1 | |||
Sequence: MAAAPSALLLLPPFPVLSTYRLQSRSRPSAPETDDSRVGGIMRGEKNYYFRGAAGDHGSCPTTTSPLASALLMPSEAVSSSWSESGGGLSGGDEEDTRLLQLLRTARDPSEAFQALQAALPRRGGRLGFPRRKEALYRALGRVLVEGGSDEKRLCLQLLSDVLRGQGEAGQLEEAFSLALLPQLVVSLREENPALRKDALQILHICLKRSPGEVLRTLIQQGLESTDARLRASTALLLPILLTTEDLLLGLDLTEVIISLARKLGDQETEEESETAFSALQQIGERLGQDRFQSYISRLPSALRRHYNRRLESQFGSQVPYYLELEASGFPEDPLPCAVTLSNSNLKFGIIPQELHSRLLDQEDYKNRTQAVEELKQVLGKFNPSSTPHSSLVGFISLLYNLLDDSNFKVVHGTLEVLHLLVIRLGEQVQQFLGPVIAASVKVLADNKLVIKQEYMKIFLKLMKEVGPQQVLCLLLEHLKHKHSRVREEVVNICICSLLTYPSEDFDLPKLSFDLAPALVDSKRRVRQAALEAFAVLASSMGSGKTSILFKAVDTVELQDNGDGVMNAVQARLARKTLPRLTEQGFVEYAVLMPSSAGGRSNHLAHGADTDWLLAGNRTQSAHCHCGDHVRDSMHIYGSYSPTICTRRVLSAGKGKNKLPWENEQPGIMGENQTSTSKDIEQFSTYDFIPSAKLKLSQGMPVNDDLCFSRKRVSRNLFQNSRDFNPDCLPLCAAGTTGTHQTNLSGKCAQLGFSQICGKTGSVGSDLQFLGTTSSHQEKVYASLNFGSKTQQTFGSQTECTSSNGQNPSPGAYILPSYPVSSPRTSPKHTSPLIISPKKSQDNSVNFSNSWPLKSFEGLSKPSPQKKLVSQKSSDPTGRNHGENSQEKPPVQLTPALVRSPSSRRGLNGTKPVPPIPRGISLLPDKADLSTVGHKKKEPDDIWKCEKDSLPIDLSELNFKDKDLDQEEMHSSLRSLRNSAAKKRAKLSGSTSDLESPDSAMKLDLTMDSPSLSSSPNINSYSESGVYSQESLTSSLSTTPQGKRIMSDIFPTFGSKPCPTRLSSAKKKISHIAEQSPSAGSSSNPQQISSFDFTTTKALSEDSVVVVGKGVFGSLSSAPATCSQSVISSVENGDTFSIKQSIEPPSGIYGRSVQQNISSYLDVENEKDAKVSISKSTYNKMRQKRKEEKELFHNKDCEKKEKNSWERMRHTGTEKMASESETPTGAISQYKERMPSVTHSPEIMDLSELRPFSKPEIALTEALRLLADEDWEKKIEGLNFIRCLAAFHSEILNTKLHETNFAVVQEVKNLRSGVSRAAVVCLSDLFTYLKKSMDQELDTTVKVLLHKAGESNTFIREDVDKALRAMVNNVTPARAVVSLINGGQRYYGRKMLFFMMCHPNFEKMLEKYVPSKDLPYIKDSVRNLQQKGLGEIPLDTPSAKGRRSHTGSVGNTRSSSVSRDAFNSAERAVTEVREVTRKSVPRNSLESAEYLKLITGLLNAKDFRDRINGIKQLLSDTENNQDLVVGNIVKIFDAFKSRLHDSNSKVNLVALETMHKMIPLLRDHLSPIINMLIPAIVDNNLNSKNPGIYAAATNVVQALSQHVDNYLLLQPFCTKAQFLNGKAKQDMTEKLADIVTELYQRKPHATEQKVLVVLWHLLGNMTNSGSLPGAGGNIRTATAKLSKALFAQMGQNLLNQAASQPPHIKKSLEELLDMTILNEL | |||||||
Modified residue (large scale data) | 484 | PRIDE | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue (large scale data) | 836 | PRIDE | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue (large scale data) | 863 | PRIDE | Phosphoserine | ||||
Sequence: S |
Proteomic databases
PTM databases
Expression
Structure
Family & Domains
Features
Showing features for region, repeat, compositional bias.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Region | 94-312 | TOG 1 | ||||
Sequence: EEDTRLLQLLRTARDPSEAFQALQAALPRRGGRLGFPRRKEALYRALGRVLVEGGSDEKRLCLQLLSDVLRGQGEAGQLEEAFSLALLPQLVVSLREENPALRKDALQILHICLKRSPGEVLRTLIQQGLESTDARLRASTALLLPILLTTEDLLLGLDLTEVIISLARKLGDQETEEESETAFSALQQIGERLGQDRFQSYISRLPSALRRHYNRRLE | ||||||
Repeat | 175-212 | HEAT 1 | ||||
Sequence: AFSLALLPQLVVSLREENPALRKDALQILHICLKRSPG | ||||||
Repeat | 214-247 | HEAT 2 | ||||
Sequence: VLRTLIQQGLESTDARLRASTALLLPILLTTEDL | ||||||
Repeat | 251-289 | HEAT 3 | ||||
Sequence: LDLTEVIISLARKLGDQETEEESETAFSALQQIGERLGQ | ||||||
Repeat | 345-384 | HEAT 4 | ||||
Sequence: NLKFGIIPQELHSRLLDQEDYKNRTQAVEELKQVLGKFNP | ||||||
Region | 352-596 | TOG 2 | ||||
Sequence: PQELHSRLLDQEDYKNRTQAVEELKQVLGKFNPSSTPHSSLVGFISLLYNLLDDSNFKVVHGTLEVLHLLVIRLGEQVQQFLGPVIAASVKVLADNKLVIKQEYMKIFLKLMKEVGPQQVLCLLLEHLKHKHSRVREEVVNICICSLLTYPSEDFDLPKLSFDLAPALVDSKRRVRQAALEAFAVLASSMGSGKTSILFKAVDTVELQDNGDGVMNAVQARLARKTLPRLTEQGFVEYAVLMPSS | ||||||
Repeat | 390-427 | HEAT 5 | ||||
Sequence: SSLVGFISLLYNLLDDSNFKVVHGTLEVLHLLVIRLGE | ||||||
Repeat | 431-466 | HEAT 6 | ||||
Sequence: QFLGPVIAASVKVLADNKLVIKQEYMKIFLKLMKEV | ||||||
Repeat | 467-504 | HEAT 7 | ||||
Sequence: GPQQVLCLLLEHLKHKHSRVREEVVNICICSLLTYPSE | ||||||
Repeat | 506-543 | HEAT 8 | ||||
Sequence: FDLPKLSFDLAPALVDSKRRVRQAALEAFAVLASSMGS | ||||||
Compositional bias | 794-811 | Polar residues | ||||
Sequence: FGSQTECTSSNGQNPSPG | ||||||
Region | 794-924 | Disordered | ||||
Sequence: FGSQTECTSSNGQNPSPGAYILPSYPVSSPRTSPKHTSPLIISPKKSQDNSVNFSNSWPLKSFEGLSKPSPQKKLVSQKSSDPTGRNHGENSQEKPPVQLTPALVRSPSSRRGLNGTKPVPPIPRGISLLP | ||||||
Compositional bias | 819-856 | Polar residues | ||||
Sequence: PVSSPRTSPKHTSPLIISPKKSQDNSVNFSNSWPLKSF | ||||||
Compositional bias | 864-907 | Polar residues | ||||
Sequence: PQKKLVSQKSSDPTGRNHGENSQEKPPVQLTPALVRSPSSRRGL | ||||||
Region | 970-998 | Disordered | ||||
Sequence: HSSLRSLRNSAAKKRAKLSGSTSDLESPD | ||||||
Compositional bias | 973-997 | Polar residues | ||||
Sequence: LRSLRNSAAKKRAKLSGSTSDLESP | ||||||
Region | 1067-1087 | Disordered | ||||
Sequence: KKISHIAEQSPSAGSSSNPQQ | ||||||
Compositional bias | 1069-1087 | Polar residues | ||||
Sequence: ISHIAEQSPSAGSSSNPQQ | ||||||
Region | 1256-1425 | TOG 3 | ||||
Sequence: EIALTEALRLLADEDWEKKIEGLNFIRCLAAFHSEILNTKLHETNFAVVQEVKNLRSGVSRAAVVCLSDLFTYLKKSMDQELDTTVKVLLHKAGESNTFIREDVDKALRAMVNNVTPARAVVSLINGGQRYYGRKMLFFMMCHPNFEKMLEKYVPSKDLPYIKDSVRNLQ | ||||||
Repeat | 1294-1331 | HEAT 9 | ||||
Sequence: TKLHETNFAVVQEVKNLRSGVSRAAVVCLSDLFTYLKK | ||||||
Repeat | 1335-1372 | HEAT 10 | ||||
Sequence: QELDTTVKVLLHKAGESNTFIREDVDKALRAMVNNVTP | ||||||
Region | 1430-1462 | Disordered | ||||
Sequence: GEIPLDTPSAKGRRSHTGSVGNTRSSSVSRDAF | ||||||
Compositional bias | 1441-1462 | Polar residues | ||||
Sequence: GRRSHTGSVGNTRSSSVSRDAF | ||||||
Region | 1484-1720 | TOG 4 | ||||
Sequence: SLESAEYLKLITGLLNAKDFRDRINGIKQLLSDTENNQDLVVGNIVKIFDAFKSRLHDSNSKVNLVALETMHKMIPLLRDHLSPIINMLIPAIVDNNLNSKNPGIYAAATNVVQALSQHVDNYLLLQPFCTKAQFLNGKAKQDMTEKLADIVTELYQRKPHATEQKVLVVLWHLLGNMTNSGSLPGAGGNIRTATAKLSKALFAQMGQNLLNQAASQPPHIKKSLEELLDMTILNEL | ||||||
Repeat | 1485-1522 | HEAT 11 | ||||
Sequence: LESAEYLKLITGLLNAKDFRDRINGIKQLLSDTENNQD | ||||||
Repeat | 1526-1563 | HEAT 12 | ||||
Sequence: GNIVKIFDAFKSRLHDSNSKVNLVALETMHKMIPLLRD | ||||||
Repeat | 1567-1605 | HEAT 13 | ||||
Sequence: PIINMLIPAIVDNNLNSKNPGIYAAATNVVQALSQHVDN |
Domain
The TOG regions are composed of HEAT-type repeats that assemble into a solenoid structure. They mediate interaction with microtubules.
Sequence similarities
Belongs to the Crescerin family.
Keywords
- Domain
Phylogenomic databases
Family and domain databases
Sequence & Isoforms
- Sequence statusComplete
This entry describes 3 isoforms produced by Alternative splicing.
Q9Y4F4-1
This isoform has been chosen as the canonical sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
- Name1
- Length1,720
- Mass (Da)189,360
- Last updated2010-05-18 v4
- ChecksumB07E731FDE69EE7D
Q9Y4F4-2
- Name2
Q9Y4F4-3
- Name3
Computationally mapped potential isoform sequences
There are 4 potential isoforms mapped to this entry
Sequence caution
Features
Showing features for sequence conflict, compositional bias, alternative sequence.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Sequence conflict | 191 | in Ref. 4; CAH18354 | ||||
Sequence: E → G | ||||||
Sequence conflict | 477 | in Ref. 1; BAA24853 | ||||
Sequence: E → K | ||||||
Compositional bias | 794-811 | Polar residues | ||||
Sequence: FGSQTECTSSNGQNPSPG | ||||||
Compositional bias | 819-856 | Polar residues | ||||
Sequence: PVSSPRTSPKHTSPLIISPKKSQDNSVNFSNSWPLKSF | ||||||
Compositional bias | 864-907 | Polar residues | ||||
Sequence: PQKKLVSQKSSDPTGRNHGENSQEKPPVQLTPALVRSPSSRRGL | ||||||
Alternative sequence | VSP_020822 | 969-974 | in isoform 2 | |||
Sequence: MHSSLR → VRTKYF | ||||||
Alternative sequence | VSP_020821 | 969-995 | in isoform 3 | |||
Sequence: MHSSLRSLRNSAAKKRAKLSGSTSDLE → VRHISNIWVKTLSNKTFFCKEKNFSYC | ||||||
Compositional bias | 973-997 | Polar residues | ||||
Sequence: LRSLRNSAAKKRAKLSGSTSDLESP | ||||||
Alternative sequence | VSP_020823 | 975-1720 | in isoform 2 | |||
Sequence: Missing | ||||||
Sequence conflict | 992 | in Ref. 1; BAA24853 | ||||
Sequence: S → L | ||||||
Alternative sequence | VSP_020824 | 996-1720 | in isoform 3 | |||
Sequence: Missing | ||||||
Compositional bias | 1069-1087 | Polar residues | ||||
Sequence: ISHIAEQSPSAGSSSNPQQ | ||||||
Compositional bias | 1441-1462 | Polar residues | ||||
Sequence: GRRSHTGSVGNTRSSSVSRDAF |
Keywords
- Coding sequence diversity
- Technical term
Sequence databases
Nucleotide Sequence | Protein Sequence | Molecule Type | Status | |
---|---|---|---|---|
AB007883 EMBL· GenBank· DDBJ | BAA24853.2 EMBL· GenBank· DDBJ | mRNA | Different initiation | |
CR749557 EMBL· GenBank· DDBJ | CAH18354.1 EMBL· GenBank· DDBJ | mRNA | Frameshift | |
AL049870 EMBL· GenBank· DDBJ | - | Genomic DNA | No translation available. | |
AL121809 EMBL· GenBank· DDBJ | - | Genomic DNA | No translation available. | |
BC057255 EMBL· GenBank· DDBJ | AAH57255.1 EMBL· GenBank· DDBJ | mRNA |