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Q96T21

- SEBP2_HUMAN

UniProt

Q96T21 - SEBP2_HUMAN

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Protein
Selenocysteine insertion sequence-binding protein 2
Gene
SECISBP2, SBP2
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

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
Complete GO annotation...

GO - Biological processi

  1. translation Source: UniProtKB-KW
Complete GO annotation...

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
Synonyms:SBP2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 9

Organism-specific databases

HGNCiHGNC:30972. SECISBP2.

Subcellular locationi

Nucleus Reviewed prediction

GO - Cellular componenti

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

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.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication
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 2
PRO_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.

Family & Domainsi

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni673 – 69422RNA-binding Reviewed prediction
Add
BLAST

Motif

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Motifi380 – 3878Nuclear localization signal Reviewed prediction

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

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.
VSP_039070Add
BLAST
Alternative sequencei1 – 6868Missing in isoform 3.
VSP_055755Add
BLAST
Alternative sequencei74 – 10128STFPP…LDSTQ → MVRVLRSMCLPQLCSHILSV CSGTTSDR in isoform 2.
VSP_039071Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti553 – 5531S → G in AAH36109. 1 Publication
Sequence conflicti797 – 7971P → L in AAK57518. 1 Publication

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.
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...

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 .
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

« Hide 'large scale' publications
  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: September 3, 2014
This is version 104 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

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