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Q96HA7

- TONSL_HUMAN

UniProt

Q96HA7 - TONSL_HUMAN

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Protein
Tonsoku-like protein
Gene
TONSL, IKBR, NFKBIL2
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

Component of the MMS22L-TONSL complex, a complex that stimulates the recombination-dependent repair of stalled or collapsed replication forks. The MMS22L-TONSL complex is required to maintain genome integrity during DNA replication by promoting homologous recombination-mediated repair of replication fork-associated double-strand breaks. It may act by mediating the assembly of RAD51 filaments on ssDNA. Within the complex, may act as a scaffold.4 Publications

GO - Molecular functioni

  1. histone binding Source: UniProtKB
  2. protein binding Source: UniProtKB
  3. transcription corepressor activity Source: ProtInc
Complete GO annotation...

GO - Biological processi

  1. cytoplasmic sequestering of transcription factor Source: ProtInc
  2. double-strand break repair via homologous recombination Source: UniProtKB
  3. regulation of RNA biosynthetic process Source: GOC
  4. replication fork processing Source: UniProtKB
Complete GO annotation...

Keywords - Biological processi

DNA damage, DNA repair

Names & Taxonomyi

Protein namesi
Recommended name:
Tonsoku-like protein
Alternative name(s):
Inhibitor of kappa B-related protein
Short name:
I-kappa-B-related protein
Short name:
IkappaBR
NF-kappa-B inhibitor-like protein 2
Nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 2
Gene namesi
Name:TONSL
Synonyms:IKBR, NFKBIL2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 8

Organism-specific databases

HGNCiHGNC:7801. TONSL.

Subcellular locationi

Cytoplasm. Nucleus
Note: Mainly nuclear. Localizes to DNA damage sites, accumulates at stressed replication forks.3 Publications

GO - Cellular componenti

  1. cytoplasm Source: ProtInc
  2. nuclear replication fork Source: UniProtKB
  3. nucleus Source: HPA
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Nucleus

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA31605.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 13781378Tonsoku-like protein
PRO_0000326634Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei719 – 7191Phosphoserine2 Publications

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQBiQ96HA7.
PaxDbiQ96HA7.
PRIDEiQ96HA7.

PTM databases

PhosphoSiteiQ96HA7.

Expressioni

Tissue specificityi

Expressed in heart, skeletal muscle and tracheal epithelial cells.1 Publication

Gene expression databases

BgeeiQ96HA7.
CleanExiHS_NFKBIL2.
GenevestigatoriQ96HA7.

Organism-specific databases

HPAiHPA024679.
HPA046494.

Interactioni

Subunit structurei

Component of the MMS22L-TONSL complex, a complex at least composed of MMS22L and TONSL/NFKBIL2. Interacts with the MCM complex, the FACT complex and the RPA complex. Binds histones.3 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
MMS22LQ6ZRQ55EBI-1052467,EBI-718662

Protein-protein interaction databases

BioGridi110863. 28 interactions.
IntActiQ96HA7. 20 interactions.
MINTiMINT-6780272.
STRINGi9606.ENSP00000386239.

Structurei

3D structure databases

ProteinModelPortaliQ96HA7.
SMRiQ96HA7. Positions 27-363, 470-679, 975-1360.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Repeati27 – 6034TPR 1
Add
BLAST
Repeati67 – 10034TPR 2
Add
BLAST
Repeati107 – 14741TPR 3
Add
BLAST
Repeati162 – 19534TPR 4
Add
BLAST
Repeati202 – 23534TPR 5
Add
BLAST
Repeati242 – 27534TPR 6
Add
BLAST
Repeati311 – 34434TPR 7
Add
BLAST
Repeati352 – 38534TPR 8
Add
BLAST
Repeati528 – 55730ANK 1
Add
BLAST
Repeati561 – 59030ANK 2
Add
BLAST
Repeati597 – 62630ANK 3
Add
BLAST
Repeati1069 – 109325LRR 1
Add
BLAST
Repeati1097 – 112226LRR 2
Add
BLAST
Repeati1128 – 115124LRR 3
Add
BLAST
Repeati1188 – 121225LRR 4
Add
BLAST
Repeati1247 – 127024LRR 5
Add
BLAST
Repeati1275 – 130026LRR 6
Add
BLAST
Repeati1331 – 135424LRR 7
Add
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi448 – 50962Glu-rich
Add
BLAST

Domaini

The ANK repeats mediate the interaction with the MCM complex and histones, while the LRR repeats mediate the interaction with MMS22L.1 Publication

Sequence similaritiesi

Belongs to the Tonsoku family.
Contains 3 ANK repeats.
Contains 8 TPR repeats.

Keywords - Domaini

ANK repeat, Leucine-rich repeat, Repeat, TPR repeat

Phylogenomic databases

eggNOGiCOG0666.
HOGENOMiHOG000113022.
HOVERGENiHBG107999.
InParanoidiQ96HA7.
KOiK09257.
OMAiLAPCFQK.
OrthoDBiEOG7VQJC6.
PhylomeDBiQ96HA7.
TreeFamiTF326440.

Family and domain databases

Gene3Di1.25.40.10. 2 hits.
1.25.40.20. 1 hit.
InterProiIPR002110. Ankyrin_rpt.
IPR020683. Ankyrin_rpt-contain_dom.
IPR013026. TPR-contain_dom.
IPR011990. TPR-like_helical.
IPR019734. TPR_repeat.
[Graphical view]
PfamiPF00023. Ank. 3 hits.
[Graphical view]
PRINTSiPR01415. ANKYRIN.
SMARTiSM00248. ANK. 3 hits.
SM00028. TPR. 6 hits.
[Graphical view]
SUPFAMiSSF48403. SSF48403. 1 hit.
PROSITEiPS50297. ANK_REP_REGION. 1 hit.
PS50088. ANK_REPEAT. 3 hits.
PS50293. TPR_REGION. 2 hits.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q96HA7-1) [UniParc]FASTAAdd to Basket

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.

« Hide

MSLERELRQL SKAKAKAQRA GQRREEAALC HQLGELLAGH GRYAEALEQH     50
WQELQLRERA DDPLGCAVAH RKIGERLAEM EDYPAALQHQ HQYLELAHSL 100
RNHTELQRAW ATIGRTHLDI YDHCQSRDAL LQAQAAFEKS LAIVDEELEG 150
TLAQGELNEM RTRLYLNLGL TFESLQQTAL CNDYFRKSIF LAEQNHLYED 200
LFRARYNLGT IHWRAGQHSQ AMRCLEGARE CAHTMRKRFM ESECCVVIAQ 250
VLQDLGDFLA AKRALKKAYR LGSQKPVQRA AICQNLQHVL AVVRLQQQLE 300
EAEGRDPQGA MVICEQLGDL FSKAGDFPRA AEAYQKQLRF AELLDRPGAE 350
RAIIHVSLAT TLGDMKDHHG AVRHYEEELR LRSGNVLEEA KTWLNIALSR 400
EEAGDAYELL APCFQKALSC AQQAQRPQLQ RQVLQHLHTV QLRLQPQEAP 450
ETETRLRELS VAEDEDEEEE AEEAAATAES EALEAGEVEL SEGEDDTDGL 500
TPQLEEDEEL QGHLGRRKGS KWNRRNDMGE TLLHRACIEG QLRRVQDLVR 550
QGHPLNPRDY CGWTPLHEAC NYGHLEIVRF LLDHGAAVDD PGGQGCEGIT 600
PLHDALNCGH FEVAELLLER GASVTLRTRK GLSPLETLQQ WVKLYRRDLD 650
LETRQKARAM EMLLQAAASG QDPHSSQAFH TPSSLLFDPE TSPPLSPCPE 700
PPSNSTRLPE ASQAHVRVSP GQAAPAMARP RRSRHGPASS SSSSEGEDSA 750
GPARPSQKRP RCSATAQRVA AWTPGPASNR EAATASTSRA AYQAAIRGVG 800
SAQSRLGPGP PRGHSKALAP QAALIPEEEC LAGDWLELDM PLTRSRRPRP 850
RGTGDNRRPS STSGSDSEES RPRARAKQVR LTCMQSCSAP VNAGPSSLAS 900
EPPGSPSTPR VSEPSGDSSA AGQPLGPAPP PPIRVRVQVQ DHLFLIPVPH 950
SSDTHSVAWL AEQAAQRYYQ TCGLLPRLTL RKEGALLAPQ DLIPDVLQSN 1000
DEVLAEVTSW DLPPLTDRYR RACQSLGQGE HQQVLQAVEL QGLGLSFSAC 1050
SLALDQAQLT PLLRALKLHT ALRELRLAGN RLGDKCVAEL VAALGTMPSL 1100
ALLDLSSNHL GPEGLRQLAM GLPGQATLQS LEELDLSMNP LGDGCGQSLA 1150
SLLHACPLLS TLRLQACGFG PSFFLSHQTA LGSAFQDAEH LKTLSLSYNA 1200
LGAPALARTL QSLPAGTLLH LELSSVAAGK GDSDLMEPVF RYLAKEGCAL 1250
AHLTLSANHL GDKAVRDLCR CLSLCPSLIS LDLSANPEIS CASLEELLST 1300
LQKRPQGLSF LGLSGCAVQG PLGLGLWDKI AAQLRELQLC SRRLCAEDRD 1350
ALRQLQPSRP GPGECTLDHG SKLFFRRL 1378
Length:1,378
Mass (Da):150,929
Last modified:April 8, 2008 - v2
Checksum:i8E3013861864DCDE
GO
Isoform 2 (identifier: Q96HA7-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     631-641: GLSPLETLQQW → ASARWRRCSSG

Note: No experimental confirmation available.

Show »
Length:1,378
Mass (Da):150,894
Checksum:i22AF7F6F65F703E8
GO

Sequence cautioni

The sequence AAA85819.1 differs from that shown. Reason: Frameshift at several positions.
The sequence AAH08782.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.
The sequence CAB63467.1 differs from that shown. Reason: Erroneous gene model prediction.

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti488 – 4881V → M.
Corresponds to variant rs2229314 [ dbSNP | Ensembl ].
VAR_042411
Natural varianti493 – 4931G → S.2 Publications
Corresponds to variant rs2229315 [ dbSNP | Ensembl ].
VAR_042412
Natural varianti714 – 7141A → V.1 Publication
Corresponds to variant rs7830832 [ dbSNP | Ensembl ].
VAR_042413
Natural varianti1276 – 12761P → L.
Corresponds to variant rs4925856 [ dbSNP | Ensembl ].
VAR_042414

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei631 – 64111GLSPLETLQQW → ASARWRRCSSG in isoform 2.
VSP_032686Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti193 – 1942EQ → DE in AAA85819. 1 Publication
Sequence conflicti268 – 2681A → R in AAA85819. 1 Publication
Sequence conflicti427 – 4271P → A in CAB63467. 1 Publication
Sequence conflicti482 – 4821A → R in AAA85819. 1 Publication
Sequence conflicti516 – 5161R → P in AAA85819. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
U16258 mRNA. Translation: AAA85819.1. Frameshift.
AC084125 Genomic DNA. No translation available.
AF205589 Genomic DNA. No translation available.
BC008782 mRNA. Translation: AAH08782.1. Different initiation.
AJ249601 Genomic DNA. Translation: CAB63467.1. Sequence problems.
CCDSiCCDS34968.2. [Q96HA7-1]
PIRiA56429.
RefSeqiNP_038460.4. NM_013432.4. [Q96HA7-1]
UniGeneiHs.675285.

Genome annotation databases

EnsembliENST00000409379; ENSP00000386239; ENSG00000160949. [Q96HA7-1]
GeneIDi4796.
KEGGihsa:4796.
UCSCiuc011llg.2. human. [Q96HA7-1]

Polymorphism databases

DMDMi182662416.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
U16258 mRNA. Translation: AAA85819.1 . Frameshift.
AC084125 Genomic DNA. No translation available.
AF205589 Genomic DNA. No translation available.
BC008782 mRNA. Translation: AAH08782.1 . Different initiation.
AJ249601 Genomic DNA. Translation: CAB63467.1 . Sequence problems.
CCDSi CCDS34968.2. [Q96HA7-1 ]
PIRi A56429.
RefSeqi NP_038460.4. NM_013432.4. [Q96HA7-1 ]
UniGenei Hs.675285.

3D structure databases

ProteinModelPortali Q96HA7.
SMRi Q96HA7. Positions 27-363, 470-679, 975-1360.
ModBasei Search...

Protein-protein interaction databases

BioGridi 110863. 28 interactions.
IntActi Q96HA7. 20 interactions.
MINTi MINT-6780272.
STRINGi 9606.ENSP00000386239.

PTM databases

PhosphoSitei Q96HA7.

Polymorphism databases

DMDMi 182662416.

Proteomic databases

MaxQBi Q96HA7.
PaxDbi Q96HA7.
PRIDEi Q96HA7.

Protocols and materials databases

DNASUi 4796.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000409379 ; ENSP00000386239 ; ENSG00000160949 . [Q96HA7-1 ]
GeneIDi 4796.
KEGGi hsa:4796.
UCSCi uc011llg.2. human. [Q96HA7-1 ]

Organism-specific databases

CTDi 4796.
GeneCardsi GC08M145659.
H-InvDB HIX0007858.
HGNCi HGNC:7801. TONSL.
HPAi HPA024679.
HPA046494.
MIMi 604546. gene.
neXtProti NX_Q96HA7.
PharmGKBi PA31605.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG0666.
HOGENOMi HOG000113022.
HOVERGENi HBG107999.
InParanoidi Q96HA7.
KOi K09257.
OMAi LAPCFQK.
OrthoDBi EOG7VQJC6.
PhylomeDBi Q96HA7.
TreeFami TF326440.

Miscellaneous databases

GenomeRNAii 4796.
NextBioi 18484.
PROi Q96HA7.
SOURCEi Search...

Gene expression databases

Bgeei Q96HA7.
CleanExi HS_NFKBIL2.
Genevestigatori Q96HA7.

Family and domain databases

Gene3Di 1.25.40.10. 2 hits.
1.25.40.20. 1 hit.
InterProi IPR002110. Ankyrin_rpt.
IPR020683. Ankyrin_rpt-contain_dom.
IPR013026. TPR-contain_dom.
IPR011990. TPR-like_helical.
IPR019734. TPR_repeat.
[Graphical view ]
Pfami PF00023. Ank. 3 hits.
[Graphical view ]
PRINTSi PR01415. ANKYRIN.
SMARTi SM00248. ANK. 3 hits.
SM00028. TPR. 6 hits.
[Graphical view ]
SUPFAMi SSF48403. SSF48403. 1 hit.
PROSITEi PS50297. ANK_REP_REGION. 1 hit.
PS50088. ANK_REPEAT. 3 hits.
PS50293. TPR_REGION. 2 hits.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Cloning of a differentially expressed I kappa B-related protein."
    Ray P., Zhang D.H., Elias J.A., Ray A.
    J. Biol. Chem. 270:10680-10685(1995) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), FUNCTION, TISSUE SPECIFICITY, VARIANT SER-493.
    Tissue: Cervix carcinoma.
  2. "DNA sequence and analysis of human chromosome 8."
    Nusbaum C., Mikkelsen T.S., Zody M.C., Asakawa S., Taudien S., Garber M., Kodira C.D., Schueler M.G., Shimizu A., Whittaker C.A., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Yang X., Allen N.R., Anderson S., Asakawa T.
    , Blechschmidt K., Bloom T., Borowsky M.L., Butler J., Cook A., Corum B., DeArellano K., DeCaprio D., Dooley K.T., Dorris L. III, Engels R., Gloeckner G., Hafez N., Hagopian D.S., Hall J.L., Ishikawa S.K., Jaffe D.B., Kamat A., Kudoh J., Lehmann R., Lokitsang T., Macdonald P., Major J.E., Matthews C.D., Mauceli E., Menzel U., Mihalev A.H., Minoshima S., Murayama Y., Naylor J.W., Nicol R., Nguyen C., O'Leary S.B., O'Neill K., Parker S.C.J., Polley A., Raymond C.K., Reichwald K., Rodriguez J., Sasaki T., Schilhabel M., Siddiqui R., Smith C.L., Sneddon T.P., Talamas J.A., Tenzin P., Topham K., Venkataraman V., Wen G., Yamazaki S., Young S.K., Zeng Q., Zimmer A.R., Rosenthal A., Birren B.W., Platzer M., Shimizu N., Lander E.S.
    Nature 439:331-335(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 6-1378 (ISOFORM 1), VARIANT VAL-714.
    Tissue: Brain.
  4. "Isolation, sequence, and chromosomal localisation of the human IkappaBR gene (NFKBIL2)."
    Norman D.A., Barton P.J.
    Ann. Hum. Genet. 64:15-23(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 64-671, VARIANT SER-493.
  5. "Selective up-regulation of cytokine-induced RANTES gene expression in lung epithelial cells by overexpression of IkappaBR."
    Ray P., Yang L., Zhang D.H., Ghosh S.K., Ray A.
    J. Biol. Chem. 272:20191-20197(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: SUBCELLULAR LOCATION.
  6. "Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle."
    Daub H., Olsen J.V., Bairlein M., Gnad F., Oppermann F.S., Korner R., Greff Z., Keri G., Stemmann O., Mann M.
    Mol. Cell 31:438-448(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-719, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  7. Cited for: FUNCTION, SUBCELLULAR LOCATION, IDENTIFICATION IN THE MMS22L-TONSL COMPLEX.
  8. "Identification of the MMS22L-TONSL complex that promotes homologous recombination."
    Duro E., Lundin C., Ask K., Sanchez-Pulido L., MacArtney T.J., Toth R., Ponting C.P., Groth A., Helleday T., Rouse J.
    Mol. Cell 40:632-644(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, SUBCELLULAR LOCATION, IDENTIFICATION IN THE MMS22L-TONSL COMPLEX, DOMAIN.
  9. "A genome-wide camptothecin sensitivity screen identifies a mammalian MMS22L-NFKBIL2 complex required for genomic stability."
    O'Connell B.C., Adamson B., Lydeard J.R., Sowa M.E., Ciccia A., Bredemeyer A.L., Schlabach M., Gygi S.P., Elledge S.J., Harper J.W.
    Mol. Cell 40:645-657(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, IDENTIFICATION IN THE MMS22L-TONSL COMPLEX.
  10. "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
    Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.
    Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-719, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  11. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

Entry informationi

Entry nameiTONSL_HUMAN
AccessioniPrimary (citable) accession number: Q96HA7
Secondary accession number(s): B5MDP0
, C9JKB1, C9JNV8, Q13006, Q9UGJ2
Entry historyi
Integrated into UniProtKB/Swiss-Prot: April 8, 2008
Last sequence update: April 8, 2008
Last modified: July 9, 2014
This is version 115 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 8
    Human chromosome 8: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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