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Q96HA7

- TONSL_HUMAN

UniProt

Q96HA7 - TONSL_HUMAN

Protein

Tonsoku-like protein

Gene

TONSL

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 116 (01 Oct 2014)
      Sequence version 2 (08 Apr 2008)
      Previous versions | rss
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    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

    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

    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.

    GO - Cellular componenti

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

    Keywords - Cellular componenti

    Cytoplasm, Nucleus

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA31605.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 13781378Tonsoku-like proteinPRO_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.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

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

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi448 – 50962Glu-richAdd
    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.Curated
    Contains 3 ANK repeats.PROSITE-ProRule annotation
    Contains 7 LRR (leucine-rich) repeats.Curated
    Contains 8 TPR repeats.Curated

    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.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti193 – 1942EQ → DE in AAA85819. (PubMed:7738005)Curated
    Sequence conflicti268 – 2681A → R in AAA85819. (PubMed:7738005)Curated
    Sequence conflicti427 – 4271P → A in CAB63467. (PubMed:11246458)Curated
    Sequence conflicti482 – 4821A → R in AAA85819. (PubMed:7738005)Curated
    Sequence conflicti516 – 5161R → P in AAA85819. (PubMed:7738005)Curated

    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. 1 PublicationVSP_032686Add
    BLAST

    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...
    MobiDBi 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

    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: October 1, 2014
    This is version 116 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