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Q96T21

- SEBP2_HUMAN

UniProt

Q96T21 - SEBP2_HUMAN

Protein

Selenocysteine insertion sequence-binding protein 2

Gene

SECISBP2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 105 (01 Oct 2014)
      Sequence version 2 (27 Sep 2004)
      Previous versions | rss
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    Functioni

    Binds to the SECIS element in the 3'-UTR of some mRNAs encoding selenoproteins. Binding is stimulated by SELB.

    GO - Molecular functioni

    1. mRNA 3'-UTR binding Source: UniProtKB
    2. poly(A) RNA binding Source: UniProtKB
    3. ribonucleoprotein complex binding Source: Ensembl
    4. selenocysteine insertion sequence binding Source: Ensembl

    GO - Biological processi

    1. translation Source: UniProtKB-KW

    Keywords - Biological processi

    Protein biosynthesis

    Keywords - Ligandi

    RNA-binding

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Selenocysteine insertion sequence-binding protein 2
    Short name:
    SECIS-binding protein 2
    Gene namesi
    Name:SECISBP2
    Synonyms:SBP2
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 9

    Organism-specific databases

    HGNCiHGNC:30972. SECISBP2.

    Subcellular locationi

    Nucleus Curated

    GO - Cellular componenti

    1. mitochondrion Source: Ensembl
    2. nucleus Source: HPA
    3. ribonucleoprotein complex Source: Ensembl

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Involvement in diseasei

    Abnormal thyroid hormone metabolism (ATHYHM) [MIM:609698]: A disorder associated with a reduction in type II iodothyronine deiodinase activity.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti540 – 5401R → Q in ATHYHM. 1 Publication
    VAR_025282

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

    MIMi609698. phenotype.
    Orphaneti171706. Short stature-delayed bone age due to thyroid hormone metabolism deficiency.
    PharmGKBiPA134863749.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 854854Selenocysteine insertion sequence-binding protein 2PRO_0000097655Add
    BLAST

    Proteomic databases

    MaxQBiQ96T21.
    PaxDbiQ96T21.
    PRIDEiQ96T21.

    PTM databases

    PhosphoSiteiQ96T21.

    Expressioni

    Tissue specificityi

    Expressed at high levels in testis.1 Publication

    Gene expression databases

    ArrayExpressiQ96T21.
    BgeeiQ96T21.
    CleanExiHS_SECISBP2.
    GenevestigatoriQ96T21.

    Organism-specific databases

    HPAiHPA044314.
    HPA054905.

    Interactioni

    Subunit structurei

    Interacts with SELB.By similarity

    Protein-protein interaction databases

    BioGridi122507. 3 interactions.
    IntActiQ96T21. 4 interactions.
    MINTiMINT-1188778.
    STRINGi9606.ENSP00000364965.

    Structurei

    3D structure databases

    DisProtiDP00420.
    ProteinModelPortaliQ96T21.
    SMRiQ96T21. Positions 669-759.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni673 – 69422RNA-bindingSequence AnalysisAdd
    BLAST

    Motif

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Motifi380 – 3878Nuclear localization signalSequence Analysis

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi380 – 3878Poly-Lys

    Phylogenomic databases

    eggNOGiNOG71832.
    HOVERGENiHBG056137.
    OMAiPMGYVVR.
    OrthoDBiEOG7RRF7R.
    PhylomeDBiQ96T21.
    TreeFamiTF328821.

    Family and domain databases

    Gene3Di3.30.1330.30. 1 hit.
    InterProiIPR029064. L30e-like.
    IPR004038. Ribosomal_L7Ae/L30e/S12e/Gad45.
    [Graphical view]
    PfamiPF01248. Ribosomal_L7Ae. 1 hit.
    [Graphical view]
    SUPFAMiSSF55315. SSF55315. 1 hit.

    Sequences (3)i

    Sequence statusi: Complete.

    This entry describes 3 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q96T21-1) [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

    MASEGPREPE SEGIKLSADV KPFVPRFAGL NVAWLESSEA CVFPSSAATY    50
    YPFVQEPPVT EQKIYTEDMA FGASTFPPQY LSSEITLHPY AYSPYTLDST 100
    QNVYSVPGSQ YLYNQPSCYR GFQTVKHRNE NTCPLPQEMK ALFKKKTYDE 150
    KKTYDQQKFD SERADGTISS EIKSARGSHH LSIYAENSLK SDGYHKRTDR 200
    KSRIIAKNVS TSKPEFEFTT LDFPELQGAE NNMSEIQKQP KWGPVHSVST 250
    DISLLREVVK PAAVLSKGEI VVKNNPNESV TANAATNSPS CTRELSWTPM 300
    GYVVRQTLST ELSAAPKNVT SMINLKTIAS SADPKNVSIP SSEALSSDPS 350
    YNKEKHIIHP TQKSKASQGS DLEQNEASRK NKKKKEKSTS KYEVLTVQEP 400
    PRIEDAEEFP NLAVASERRD RIETPKFQSK QQPQDNFKNN VKKSQLPVQL 450
    DLGGMLTALE KKQHSQHAKQ SSKPVVVSVG AVPVLSKECA SGERGRRMSQ 500
    MKTPHNPLDS SAPLMKKGKQ REIPKAKKPT SLKKIILKER QERKQRLQEN 550
    AVSPAFTSDD TQDGESGGDD QFPEQAELSG PEGMDELIST PSVEDKSEEP 600
    PGTELQRDTE ASHLAPNHTT FPKIHSRRFR DYCSQMLSKE VDACVTDLLK 650
    ELVRFQDRMY QKDPVKAKTK RRLVLGLREV LKHLKLKKLK CVIISPNCEK 700
    IQSKGGLDDT LHTIIDYACE QNIPFVFALN RKALGRSLNK AVPVSVVGIF 750
    SYDGAQDQFH KMVELTVAAR QAYKTMLENV QQELVGEPRP QAPPSLPTQG 800
    PSCPAEDGPP ALKEKEEPHY IEIWKKHLEA YSGCTLELEE SLEASTSQMM 850
    NLNL 854
    Length:854
    Mass (Da):95,462
    Last modified:September 27, 2004 - v2
    Checksum:iA911370853BE4E6E
    GO
    Isoform 2 (identifier: Q96T21-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-73: Missing.
         74-101: STFPPQYLSSEITLHPYAYSPYTLDSTQ → MVRVLRSMCLPQLCSHILSVCSGTTSDR

    Show »
    Length:781
    Mass (Da):87,393
    Checksum:i1D88AA98E858F00F
    GO
    Isoform 3 (identifier: Q96T21-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-68: Missing.

    Note: No experimental confirmation available. Gene prediction based on cDNA data.

    Show »
    Length:786
    Mass (Da):87,985
    Checksum:i87F5B414EEB2D3BC
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti553 – 5531S → G in AAH36109. (PubMed:15489334)Curated
    Sequence conflicti797 – 7971P → L in AAK57518. (PubMed:12095701)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti428 – 4281Q → E.
    Corresponds to variant rs45452691 [ dbSNP | Ensembl ].
    VAR_061704
    Natural varianti540 – 5401R → Q in ATHYHM. 1 Publication
    VAR_025282

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 7373Missing in isoform 2. 2 PublicationsVSP_039070Add
    BLAST
    Alternative sequencei1 – 6868Missing in isoform 3. CuratedVSP_055755Add
    BLAST
    Alternative sequencei74 – 10128STFPP…LDSTQ → MVRVLRSMCLPQLCSHILSV CSGTTSDR in isoform 2. 2 PublicationsVSP_039071Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF380995 mRNA. Translation: AAK57518.1.
    AL136881 mRNA. Translation: CAB66815.1.
    AK290182 mRNA. Translation: BAF82871.1.
    BX000356, AL160054, AL929575 Genomic DNA. Translation: CAI41358.2.
    AL160054, AL929575, BX000356 Genomic DNA. Translation: CAI41364.2.
    BX000356, AL160054, AL929575 Genomic DNA. Translation: CAI95386.1.
    AL160054, AL929575, BX000356 Genomic DNA. Translation: CAI95388.1.
    AL929575, AL160054, BX000356 Genomic DNA. Translation: CAI95792.1.
    AL929575, AL160054, BX000356 Genomic DNA. Translation: CAI95793.1.
    CH471089 Genomic DNA. Translation: EAW62763.1.
    CH471089 Genomic DNA. Translation: EAW62764.1.
    BC036109 mRNA. Translation: AAH36109.1.
    CCDSiCCDS65076.1. [Q96T21-2]
    CCDS6683.1. [Q96T21-1]
    RefSeqiNP_001269617.1. NM_001282688.1.
    NP_001269618.1. NM_001282689.1. [Q96T21-2]
    NP_076982.3. NM_024077.4. [Q96T21-1]
    XP_006717345.1. XM_006717282.1. [Q96T21-2]
    UniGeneiHs.59804.
    Hs.667515.

    Genome annotation databases

    EnsembliENST00000339901; ENSP00000364959; ENSG00000187742. [Q96T21-2]
    ENST00000375807; ENSP00000364965; ENSG00000187742. [Q96T21-1]
    ENST00000534113; ENSP00000436650; ENSG00000187742. [Q96T21-3]
    GeneIDi79048.
    KEGGihsa:79048.
    UCSCiuc004aqj.1. human. [Q96T21-1]
    uc004aqk.1. human. [Q96T21-2]

    Polymorphism databases

    DMDMi52788293.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF380995 mRNA. Translation: AAK57518.1 .
    AL136881 mRNA. Translation: CAB66815.1 .
    AK290182 mRNA. Translation: BAF82871.1 .
    BX000356 , AL160054 , AL929575 Genomic DNA. Translation: CAI41358.2 .
    AL160054 , AL929575 , BX000356 Genomic DNA. Translation: CAI41364.2 .
    BX000356 , AL160054 , AL929575 Genomic DNA. Translation: CAI95386.1 .
    AL160054 , AL929575 , BX000356 Genomic DNA. Translation: CAI95388.1 .
    AL929575 , AL160054 , BX000356 Genomic DNA. Translation: CAI95792.1 .
    AL929575 , AL160054 , BX000356 Genomic DNA. Translation: CAI95793.1 .
    CH471089 Genomic DNA. Translation: EAW62763.1 .
    CH471089 Genomic DNA. Translation: EAW62764.1 .
    BC036109 mRNA. Translation: AAH36109.1 .
    CCDSi CCDS65076.1. [Q96T21-2 ]
    CCDS6683.1. [Q96T21-1 ]
    RefSeqi NP_001269617.1. NM_001282688.1.
    NP_001269618.1. NM_001282689.1. [Q96T21-2 ]
    NP_076982.3. NM_024077.4. [Q96T21-1 ]
    XP_006717345.1. XM_006717282.1. [Q96T21-2 ]
    UniGenei Hs.59804.
    Hs.667515.

    3D structure databases

    DisProti DP00420.
    ProteinModelPortali Q96T21.
    SMRi Q96T21. Positions 669-759.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 122507. 3 interactions.
    IntActi Q96T21. 4 interactions.
    MINTi MINT-1188778.
    STRINGi 9606.ENSP00000364965.

    PTM databases

    PhosphoSitei Q96T21.

    Polymorphism databases

    DMDMi 52788293.

    Proteomic databases

    MaxQBi Q96T21.
    PaxDbi Q96T21.
    PRIDEi Q96T21.

    Protocols and materials databases

    DNASUi 79048.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000339901 ; ENSP00000364959 ; ENSG00000187742 . [Q96T21-2 ]
    ENST00000375807 ; ENSP00000364965 ; ENSG00000187742 . [Q96T21-1 ]
    ENST00000534113 ; ENSP00000436650 ; ENSG00000187742 . [Q96T21-3 ]
    GeneIDi 79048.
    KEGGi hsa:79048.
    UCSCi uc004aqj.1. human. [Q96T21-1 ]
    uc004aqk.1. human. [Q96T21-2 ]

    Organism-specific databases

    CTDi 79048.
    GeneCardsi GC09P091933.
    HGNCi HGNC:30972. SECISBP2.
    HPAi HPA044314.
    HPA054905.
    MIMi 607693. gene.
    609698. phenotype.
    neXtProti NX_Q96T21.
    Orphaneti 171706. Short stature-delayed bone age due to thyroid hormone metabolism deficiency.
    PharmGKBi PA134863749.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG71832.
    HOVERGENi HBG056137.
    OMAi PMGYVVR.
    OrthoDBi EOG7RRF7R.
    PhylomeDBi Q96T21.
    TreeFami TF328821.

    Miscellaneous databases

    ChiTaRSi SECISBP2. human.
    GeneWikii SECISBP2.
    GenomeRNAii 79048.
    NextBioi 67791.
    PROi Q96T21.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q96T21.
    Bgeei Q96T21.
    CleanExi HS_SECISBP2.
    Genevestigatori Q96T21.

    Family and domain databases

    Gene3Di 3.30.1330.30. 1 hit.
    InterProi IPR029064. L30e-like.
    IPR004038. Ribosomal_L7Ae/L30e/S12e/Gad45.
    [Graphical view ]
    Pfami PF01248. Ribosomal_L7Ae. 1 hit.
    [Graphical view ]
    SUPFAMi SSF55315. SSF55315. 1 hit.
    ProtoNeti Search...

    Publicationsi

    1. "cDNA cloning, expression pattern and RNA binding analysis of human selenocysteine insertion sequence (SECIS) binding protein 2."
      Lescure A., Allmang C., Yamada K., Carbon P., Krol A.
      Gene 291:279-285(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY.
    2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
      Tissue: Testis.
    3. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
      Tissue: Thalamus.
    4. "DNA sequence and analysis of human chromosome 9."
      Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L., Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R., Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S., Bagguley C.L.
      , Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E., Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M., Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J., Frankish A., Frankland J.A., French L., Fricker D.G., Garner P., Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S., Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E., Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D., Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E., Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K., Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J., Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E., McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V., Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S., Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K., Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J., Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L., Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M., Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J., Dunham I.
      Nature 429:369-374(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    6. "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] (ISOFORM 1).
      Tissue: Testis.
    7. Cited for: VARIANT ATHYHM GLN-540.

    Entry informationi

    Entry nameiSEBP2_HUMAN
    AccessioniPrimary (citable) accession number: Q96T21
    Secondary accession number(s): F8W892
    , Q5HYY1, Q8IYC0, Q9H0A1
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: January 31, 2002
    Last sequence update: September 27, 2004
    Last modified: October 1, 2014
    This is version 105 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 9
      Human chromosome 9: 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

    External Data

    Dasty 3