TERB1
Telomere repeats-binding bouquet formation protein 1
Also known as: CCDC79, FLJ35894, TERB1_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q8NA31
- Gene
- TERB1
- Ensembl
- ENSG00000249961
- Chromosome
- 16
- Canonical length
- 727 aa
- Protein class
- Disease related genes, Human disease related genes, Predicted intracellular proteins
- Subcellular location
- Nucleoplasm,Cell Junctions,Cytosol
OverviewNCBI Gene
Predicted to be involved in homologous chromosome pairing at meiosis and meiotic attachment of telomere to nuclear envelope. Predicted to act upstream of or within double-strand break repair involved in meiotic recombination. Predicted to be located in nuclear inner membrane and shelterin complex. Implicated in spermatogenic failure 60. [provided by Alliance of Genome Resources, Jul 2025]
Canonical amino-acid sequenceUniProt
727 residues, UniProt reviewed canonical sequence.
>Q8NA31|TERB1
1 MESEDTKKTQ EMKTDLNLLL ECLKYQMDNA FSQKEALVTI HSICQQNSNA SVYFREIGGL
61 MFVKNLAKSS EHSMVKEAAL YTLGAIAEKN VYCQQTLCTS ELFEDLTWFL SNDSNINLKR
121 MSVYVILVLV SNNRTGQTLV RETGCITVLS RLFRTVISKH ELDLSDKNVF QSYQLWSSVC
181 STLCVCVNNP QNDENQMFCC SLFPHANEWL KNCTTPEIIR PICSFIGLTL ANNTYVQKYF
241 VSVGGLDVLS QVLMQLESDS HETLSSAKLA VVVTKTVDAC IADNPTFGIV LSKYHIVSKL
301 LALLLHESLD SGEKFSIMLT LGHCTEDCEE NQYDLFKNNG LPLMIQALTE SQNEELNKAA
361 TFVLHNCKKI TEKLSLSLGE YPFDENETQQ LKDISVKENN LEEHWRKAKE ILHRIEQLER
421 EGNEEEIQRE NYQDNISSMN ISIQNTWKHL HADRIGRGSK AEDEDKSHSR QLQSYKSHGV
481 MSKACTNDDQ MKTPLKSANP VHACYRESEQ NKTLYKAKSS CNQNLHEETT FEKNFVSQSS
541 DHVFKHPVHI AKNIKQQLPV TDPFTLCSDI INKEVVSFLA TPSCSEMLTY RCSGCIAVEK
601 SLNSRNFSKL LHSCPYQCDR HKVIVEAEDR YKSELRKSLI CNKKILLTPR RRQRLSNEST
661 TPGGIKKRRI RKNFTEEEVN YLFNGVKKMG NHWNSILWSF PFQQGRKAVD LAHKYHKLTK
721 HPTCAASLocalizationUniProt · AlphaFold · HPA
Whether an antibody against TERB1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.38
- Highest tissue expression
- 12 nTPM
Expression across tissuesHPA
Tissue
- testis: 12 nTPM
- bone marrow: 1.4 nTPM
- skin: 0.6 nTPM
- retina: 0.4 nTPM
- adrenal gland: 0.3 nTPM
- cerebral cortex: 0.3 nTPM
Single-cell type
- early primary spermatocytes: 370 nCPM
- differentiating spermatogonia: 55 nCPM
- late primary spermatocytes: 53 nCPM
- undifferentiated spermatogonia: 27 nCPM
- early spermatids: 22 nCPM
- late spermatids: 15 nCPM
Immune cell
- basophil: 1.8 nTPM
- neutrophil: 0.7 nTPM
- NK-cell: 0.4 nTPM
- naive B-cell: 0.3 nTPM
- classical monocyte: 0.2 nTPM
- memory B-cell: 0.2 nTPM
Brain region
- choroid plexus: 7.9 nTPM
- cerebellum: 7.6 nTPM
- medulla oblongata: 7.6 nTPM
- white matter: 7.6 nTPM
- cerebral cortex: 6.5 nTPM
- pons: 6.5 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about TERB1.
Disease | AllUniProt
Conditions TERB1 is implicated in, by any mechanism.
- Spermatogenic failure 60 (SPGF60) MIM:619646
Disease | GeneticClinVar
4 pathogenic / likely-pathogenic of 20 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Spermatogenic failure 60
- Non-obstructive azoospermia
- Azoospermia
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.73
- gnomAD pLI
- 0
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- double-strand break repair involved in meiotic recombination
- homologous chromosome pairing at meiosis
- meiotic attachment of telomere to nuclear envelope
- meiotic telomere clustering
Cellular components
Protein domainsUniProt · Pfam · InterPro
- SANT/Myb domain
- Homedomain-like superfamily
- Armadillo-like helical
- Armadillo-type fold
- Myb-like DNA-binding domain
- Telomere repeats-binding bouquet formation protein 1
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of TERB1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads TERB1 as an antibody target. Whether an autoantibody or antibody against TERB1 could matter depends on whether native TERB1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
TERB1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label TERB1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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