TERB1
entrez
283847
canonical
uniprot
Q8NA31
canonical
ensembl
ENSG00000249961
resolver
ensp
ENSP00000462883
resolver
ensp
ENSP00000463762
resolver
ensp
ENSP00000464579
resolver
ensp
ENSP00000500999
resolver
genesymbol
TERB1
resolver
genesymbol_syn
CCDC79
resolver
hgnc
HGNC:26675
resolver
uniprot
A0AUW1
resolver
uniprot_entry
TERB1_HUMAN
resolver
uniprot_sec
A0AUW1
resolver
amino_acid_sequence
MESEDTKKTQEMKTDLNLLLECLKYQMDNAFSQKEALVTIHSICQQNSNASVYFREIGGLMFVKNLAKSSEHSMVKEAALYTLGAIAEKNVYCQQTLCTSELFEDLTWFLSNDSNINLKRMSVYVILVLVSNNRTGQTLVRETGCITVLSRLFRTVISKHELDLSDKNVFQSYQLWSSVCSTLCVCVNNPQNDENQMFCCSLFPHANEWLKNCTTPEIIRPICSFIGLTLANNTYVQKYFVSVGGLDVLSQVLMQLESDSHETLSSAKLAVVVTKTVDACIADNPTFGIVLSKYHIVSKLLALLLHESLDSGEKFSIMLTLGHCTEDCEENQYDLFKNNGLPLMIQALTESQNEELNKAATFVLHNCKKITEKLSLSLGEYPFDENETQQLKDISVKENNLEEHWRKAKEILHRIEQLEREGNEEEIQRENYQDNISSMNISIQNTWKHLHADRIGRGSKAEDEDKSHSRQLQSYKSHGVMSKACTNDDQMKTPLKSANPVHACYRESEQNKTLYKAKSSCNQNLHEETTFEKNFVSQSSDHVFKHPVHIAKNIKQQLPVTDPFTLCSDIINKEVVSFLATPSCSEMLTYRCSGCIAVEKSLNSRNFSKLLHSCPYQCDRHKVIVEAEDRYKSELRKSLICNKKILLTPRRRQRLSNESTTPGGIKKRRIRKNFTEEEVNYLFNGVKKMGNHWNSILWSFPFQQGRKAVDLAHKYHKLTKHPTCAAS
uniprot
proteins
disease_involvement
DISEASE: Spermatogenic failure 60 (SPGF60) [MIM:619646]: An autosomal recessive male infertility disorder characterized by non-obstructive azoospermia, due to sperm maturation arrest before the pachytene stage. {ECO:0000269|PubMed:32741963, ECO:0000269|PubMed:33211200}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
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. {ECO:0000250|UniProtKB:Q8C0V1}.
uniprot
proteins
mass_dalton
83064
uniprot
proteins
post_translational_modification
PTM: 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. {ECO:0000250|UniProtKB:Q8C0V1}.
uniprot
proteins
protein_family
TERB1 family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15616553
uniprot
proteins
pubmed
32741963
uniprot
proteins
pubmed
33211200
uniprot
proteins
pubmed
33377991
uniprot
proteins
sequence_length
727
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Chromosome, telomere {ECO:0000250|UniProtKB:Q8C0V1}. Nucleus inner membrane {ECO:0000250|UniProtKB:Q8C0V1}. Note=Localizes to telomeres during meiotic prophase. In leptotene spermatocytes, localizes to telomeres that localize to the nucleus inner membrane. {ECO:0000250|UniProtKB:Q8C0V1}.
uniprot
proteins