Q8NA31 · TERB1_HUMAN
- ProteinTelomere repeats-binding bouquet formation protein 1
- GeneTERB1
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids727 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Function
function
Meiosis-specific telomere-associated protein involved in meiotic telomere attachment to the nucleus inner membrane, a crucial step for homologous pairing and synapsis. Component of the MAJIN-TERB1-TERB2 complex, which promotes telomere cap exchange by mediating attachment of telomeric DNA to the inner nuclear membrane and replacement of the protective cap of telomeric chromosomes: in early meiosis, the MAJIN-TERB1-TERB2 complex associates with telomeric DNA and the shelterin/telosome complex. During prophase, the complex matures and promotes release of the shelterin/telosome complex from telomeric DNA. In the MAJIN-TERB1-TERB2 complex, TERB1 probably mediates association with the shelterin/telosome complex via interaction with TERF1, promoting priming telomeric DNA attachment'. Promotes telomere association with the nuclear envelope and deposition of the SUN-KASH/LINC complex. Also recruits cohesin to telomeres to develop structural rigidity.
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 | chromosome, telomeric region | |
Cellular Component | nuclear inner membrane | |
Cellular Component | shelterin complex | |
Biological Process | double-strand break repair involved in meiotic recombination | |
Biological Process | homologous chromosome pairing at meiosis | |
Biological Process | meiotic attachment of telomere to nuclear envelope | |
Biological Process | meiotic telomere clustering |
Keywords
- Biological process
Enzyme and pathway databases
Names & Taxonomy
Protein names
- Recommended nameTelomere repeats-binding bouquet formation 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 accessionQ8NA31
- Secondary accessions
Proteomes
Organism-specific databases
Subcellular Location
UniProt Annotation
GO Annotation
Note: Localizes to telomeres during meiotic prophase. In leptotene spermatocytes, localizes to telomeres that localize to the nucleus inner membrane.
Keywords
- Cellular component
Disease & Variants
Involvement in disease
Spermatogenic failure 60 (SPGF60)
- Note
- DescriptionAn autosomal recessive male infertility disorder characterized by non-obstructive azoospermia, due to sperm maturation arrest before the pachytene stage.
- See alsoMIM:619646
Natural variants in SPGF60
Variant ID | Position(s) | Change | Description | |
---|---|---|---|---|
VAR_087422 | 79 | A>V | in SPGF60; uncertain significance | |
VAR_086535 | 326 | E>G | in SPGF60; uncertain significance | |
VAR_086536 | 568-727 | missing | in SPGF60 | |
VAR_087423 | 605-727 | missing | in SPGF60 |
Features
Showing features for natural variant.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Natural variant | VAR_087422 | 79 | in SPGF60; uncertain significance | |||
Sequence: A → V | ||||||
Natural variant | VAR_086535 | 326 | in SPGF60; uncertain significance | |||
Sequence: E → G | ||||||
Natural variant | VAR_086536 | 568-727 | in SPGF60 | |||
Sequence: Missing | ||||||
Natural variant | VAR_087423 | 605-727 | in SPGF60 | |||
Sequence: Missing |
Variants
We now provide the "Disease & Variants" viewer in its own tab.
The viewer provides 729 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), modified residue.
Type | ID | Position(s) | Source | Description | |||
---|---|---|---|---|---|---|---|
Chain | PRO_0000320156 | 1-727 | UniProt | Telomere repeats-binding bouquet formation protein 1 | |||
Sequence: MESEDTKKTQEMKTDLNLLLECLKYQMDNAFSQKEALVTIHSICQQNSNASVYFREIGGLMFVKNLAKSSEHSMVKEAALYTLGAIAEKNVYCQQTLCTSELFEDLTWFLSNDSNINLKRMSVYVILVLVSNNRTGQTLVRETGCITVLSRLFRTVISKHELDLSDKNVFQSYQLWSSVCSTLCVCVNNPQNDENQMFCCSLFPHANEWLKNCTTPEIIRPICSFIGLTLANNTYVQKYFVSVGGLDVLSQVLMQLESDSHETLSSAKLAVVVTKTVDACIADNPTFGIVLSKYHIVSKLLALLLHESLDSGEKFSIMLTLGHCTEDCEENQYDLFKNNGLPLMIQALTESQNEELNKAATFVLHNCKKITEKLSLSLGEYPFDENETQQLKDISVKENNLEEHWRKAKEILHRIEQLEREGNEEEIQRENYQDNISSMNISIQNTWKHLHADRIGRGSKAEDEDKSHSRQLQSYKSHGVMSKACTNDDQMKTPLKSANPVHACYRESEQNKTLYKAKSSCNQNLHEETTFEKNFVSQSSDHVFKHPVHIAKNIKQQLPVTDPFTLCSDIINKEVVSFLATPSCSEMLTYRCSGCIAVEKSLNSRNFSKLLHSCPYQCDRHKVIVEAEDRYKSELRKSLICNKKILLTPRRRQRLSNESTTPGGIKKRRIRKNFTEEEVNYLFNGVKKMGNHWNSILWSFPFQQGRKAVDLAHKYHKLTKHPTCAAS | |||||||
Modified residue (large scale data) | 124 | PRIDE | Phosphotyrosine | ||||
Sequence: Y | |||||||
Modified residue | 648 | UniProt | Phosphothreonine | ||||
Sequence: T |
Post-translational modification
Phosphorylated by CDK. Phosphorylation by CDK takes place in late prophase when the cap exchange is prominent. is important for the stabilization of telomere attachment but dispenable for the cap exchange.
Keywords
- PTM
Proteomic databases
PTM databases
Expression
Interaction
Subunit
Component of the MAJIN-TERB1-TERB2 complex, composed of MAJIN, TERB1 and TERB2. Interacts with TERF1, STAG3 and SUN1. Interacts (via Myb-like domain) with the cohesin complex; probably mediated via interaction with STAG3.
Binary interactions
Type | Entry 1 | Entry 2 | Number of experiments | Intact | |
---|---|---|---|---|---|
BINARY | Q8NA31 | TERF1 P54274 | 4 | EBI-21942840, EBI-710997 |
Protein-protein interaction databases
Miscellaneous
Structure
Family & Domains
Features
Showing features for repeat, coiled coil, compositional bias, region, domain.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Repeat | 101-144 | ARM 1 | ||||
Sequence: ELFEDLTWFLSNDSNINLKRMSVYVILVLVSNNRTGQTLVRETG | ||||||
Repeat | 339-382 | ARM 2 | ||||
Sequence: NGLPLMIQALTESQNEELNKAATFVLHNCKKITEKLSLSLGEYP | ||||||
Coiled coil | 398-446 | |||||
Sequence: ENNLEEHWRKAKEILHRIEQLEREGNEEEIQRENYQDNISSMNISIQNT | ||||||
Compositional bias | 457-472 | Basic and acidic residues | ||||
Sequence: RGSKAEDEDKSHSRQL | ||||||
Region | 457-493 | Disordered | ||||
Sequence: RGSKAEDEDKSHSRQLQSYKSHGVMSKACTNDDQMKT | ||||||
Compositional bias | 473-493 | Polar residues | ||||
Sequence: QSYKSHGVMSKACTNDDQMKT | ||||||
Region | 523-662 | Interaction with TERF1 | ||||
Sequence: QNLHEETTFEKNFVSQSSDHVFKHPVHIAKNIKQQLPVTDPFTLCSDIINKEVVSFLATPSCSEMLTYRCSGCIAVEKSLNSRNFSKLLHSCPYQCDRHKVIVEAEDRYKSELRKSLICNKKILLTPRRRQRLSNESTTP | ||||||
Domain | 666-719 | Myb-like | ||||
Sequence: KKRRIRKNFTEEEVNYLFNGVKKMGNHWNSILWSFPFQQGRKAVDLAHKYHKLT |
Sequence similarities
Belongs to the TERB1 family.
Keywords
- Domain
Phylogenomic databases
Family and domain databases
Sequence & Isoforms
- Sequence statusComplete
This entry describes 3 isoforms produced by Alternative splicing.
Q8NA31-1
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
- Length727
- Mass (Da)83,064
- Last updated2011-02-08 v3
- Checksum266C9F347B9D4966
Q8NA31-2
- Name2
Q8NA31-3
- Name3
Computationally mapped potential isoform sequences
There are 3 potential isoforms mapped to this entry
Entry | Entry name | Gene name | Length | ||
---|---|---|---|---|---|
J3KSG9 | J3KSG9_HUMAN | TERB1 | 110 | ||
J3KT78 | J3KT78_HUMAN | TERB1 | 25 | ||
A0A669KAY0 | A0A669KAY0_HUMAN | TERB1 | 358 |
Features
Showing features for alternative sequence, compositional bias.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Alternative sequence | VSP_031613 | 329-371 | in isoform 3 | |||
Sequence: EENQYDLFKNNGLPLMIQALTESQNEELNKAATFVLHNCKKIT → A | ||||||
Compositional bias | 457-472 | Basic and acidic residues | ||||
Sequence: RGSKAEDEDKSHSRQL | ||||||
Compositional bias | 473-493 | Polar residues | ||||
Sequence: QSYKSHGVMSKACTNDDQMKT | ||||||
Alternative sequence | VSP_031614 | 540-550 | in isoform 2 and isoform 3 | |||
Sequence: SDHVFKHPVHI → RSIYIMFRYNK | ||||||
Alternative sequence | VSP_031615 | 551-727 | in isoform 2 and isoform 3 | |||
Sequence: Missing |
Keywords
- Coding sequence diversity
- Technical term
Sequence databases
Nucleotide Sequence | Protein Sequence | Molecule Type | Status | |
---|---|---|---|---|
AK093213 EMBL· GenBank· DDBJ | BAC04098.1 EMBL· GenBank· DDBJ | mRNA | ||
AC044802 EMBL· GenBank· DDBJ | - | Genomic DNA | No translation available. | |
BC126109 EMBL· GenBank· DDBJ | AAI26110.1 EMBL· GenBank· DDBJ | mRNA |