Skip Header

You are using a version of Internet Explorer that may not display all features of this website. Please upgrade to a modern browser.
Contribute Send feedback
Read comments (?) or add your own

Q96T21 (SEBP2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 103. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (4) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Selenocysteine insertion sequence-binding protein 2

Short name=SECIS-binding protein 2
Gene names
Name:SECISBP2
Synonyms:SBP2
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length854 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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

Subunit structure

Interacts with SELB By similarity.

Subcellular location

Nucleus Potential.

Tissue specificity

Expressed at high levels in testis. Ref.1

Involvement in disease

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. Ref.7

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q96T21-1)

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.
Isoform 2 (identifier: Q96T21-2)

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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 854854Selenocysteine insertion sequence-binding protein 2
PRO_0000097655

Regions

Region673 – 69422RNA-binding Potential
Motif380 – 3878Nuclear localization signal Potential
Compositional bias380 – 3878Poly-Lys

Natural variations

Alternative sequence1 – 7373Missing in isoform 2.
VSP_039070
Alternative sequence74 – 10128STFPP…LDSTQ → MVRVLRSMCLPQLCSHILSV CSGTTSDR in isoform 2.
VSP_039071
Natural variant4281Q → E.
Corresponds to variant rs45452691 [ dbSNP | Ensembl ].
VAR_061704
Natural variant5401R → Q in ATHYHM. Ref.7
VAR_025282

Experimental info

Sequence conflict5531S → G in AAH36109. Ref.6
Sequence conflict7971P → L in AAK57518. Ref.1

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified September 27, 2004. Version 2.
Checksum: A911370853BE4E6E

FASTA85495,462
        10         20         30         40         50         60 
MASEGPREPE SEGIKLSADV KPFVPRFAGL NVAWLESSEA CVFPSSAATY YPFVQEPPVT 

        70         80         90        100        110        120 
EQKIYTEDMA FGASTFPPQY LSSEITLHPY AYSPYTLDST QNVYSVPGSQ YLYNQPSCYR 

       130        140        150        160        170        180 
GFQTVKHRNE NTCPLPQEMK ALFKKKTYDE KKTYDQQKFD SERADGTISS EIKSARGSHH 

       190        200        210        220        230        240 
LSIYAENSLK SDGYHKRTDR KSRIIAKNVS TSKPEFEFTT LDFPELQGAE NNMSEIQKQP 

       250        260        270        280        290        300 
KWGPVHSVST DISLLREVVK PAAVLSKGEI VVKNNPNESV TANAATNSPS CTRELSWTPM 

       310        320        330        340        350        360 
GYVVRQTLST ELSAAPKNVT SMINLKTIAS SADPKNVSIP SSEALSSDPS YNKEKHIIHP 

       370        380        390        400        410        420 
TQKSKASQGS DLEQNEASRK NKKKKEKSTS KYEVLTVQEP PRIEDAEEFP NLAVASERRD 

       430        440        450        460        470        480 
RIETPKFQSK QQPQDNFKNN VKKSQLPVQL DLGGMLTALE KKQHSQHAKQ SSKPVVVSVG 

       490        500        510        520        530        540 
AVPVLSKECA SGERGRRMSQ MKTPHNPLDS SAPLMKKGKQ REIPKAKKPT SLKKIILKER 

       550        560        570        580        590        600 
QERKQRLQEN AVSPAFTSDD TQDGESGGDD QFPEQAELSG PEGMDELIST PSVEDKSEEP 

       610        620        630        640        650        660 
PGTELQRDTE ASHLAPNHTT FPKIHSRRFR DYCSQMLSKE VDACVTDLLK ELVRFQDRMY 

       670        680        690        700        710        720 
QKDPVKAKTK RRLVLGLREV LKHLKLKKLK CVIISPNCEK IQSKGGLDDT LHTIIDYACE 

       730        740        750        760        770        780 
QNIPFVFALN RKALGRSLNK AVPVSVVGIF SYDGAQDQFH KMVELTVAAR QAYKTMLENV 

       790        800        810        820        830        840 
QQELVGEPRP QAPPSLPTQG PSCPAEDGPP ALKEKEEPHY IEIWKKHLEA YSGCTLELEE 

       850 
SLEASTSQMM NLNL 

« Hide

Isoform 2 [UniParc].

Checksum: 1D88AA98E858F00F
Show »

FASTA78187,393

References

« Hide 'large scale' references
[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]"Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs."
Wiemann S., Weil B., Wellenreuther R., Gassenhuber J., Glassl S., Ansorge W., Boecher M., Bloecker H., Bauersachs S., Blum H., Lauber J., Duesterhoeft A., Beyer A., Koehrer K., Strack N., Mewes H.-W., Ottenwaelder B., Obermaier B. expand/collapse author list , Tampe J., Heubner D., Wambutt R., Korn B., Klein M., Poustka A.
Genome Res. 11:422-435(2001) [PubMed] [Europe PMC] [Abstract]
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. expand/collapse author list , 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. expand/collapse author list , 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]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases
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]"Mutations in SECISBP2 result in abnormal thyroid hormone metabolism."
Dumitrescu A.M., Liao X.-H., Abdullah M.S.Y., Lado-Abeal J., Majed F.A., Moeller L.C., Boran G., Schomburg L., Weiss R.E., Refetoff S.
Nat. Genet. 37:1247-1252(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT ATHYHM GLN-540.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
CCDSCCDS65076.1. [Q96T21-2]
CCDS6683.1. [Q96T21-1]
RefSeqNP_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]
UniGeneHs.59804.
Hs.667515.

3D structure databases

DisProtDP00420.
ProteinModelPortalQ96T21.
SMRQ96T21. Positions 669-759.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid122507. 3 interactions.
IntActQ96T21. 4 interactions.
MINTMINT-1188778.
STRING9606.ENSP00000364965.

PTM databases

PhosphoSiteQ96T21.

Polymorphism databases

DMDM52788293.

Proteomic databases

MaxQBQ96T21.
PaxDbQ96T21.
PRIDEQ96T21.

Protocols and materials databases

DNASU79048.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000339901; ENSP00000364959; ENSG00000187742. [Q96T21-2]
ENST00000375807; ENSP00000364965; ENSG00000187742. [Q96T21-1]
GeneID79048.
KEGGhsa:79048.
UCSCuc004aqj.1. human. [Q96T21-1]
uc004aqk.1. human. [Q96T21-2]

Organism-specific databases

CTD79048.
GeneCardsGC09P091933.
HGNCHGNC:30972. SECISBP2.
HPAHPA044314.
HPA054905.
MIM607693. gene.
609698. phenotype.
neXtProtNX_Q96T21.
Orphanet171706. Short stature-delayed bone age due to thyroid hormone metabolism deficiency.
PharmGKBPA134863749.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG71832.
HOVERGENHBG056137.
OMAPMGYVVR.
OrthoDBEOG7RRF7R.
PhylomeDBQ96T21.
TreeFamTF328821.

Gene expression databases

ArrayExpressQ96T21.
BgeeQ96T21.
CleanExHS_SECISBP2.
GenevestigatorQ96T21.

Family and domain databases

Gene3D3.30.1330.30. 1 hit.
InterProIPR029064. L30e-like.
IPR004038. Ribosomal_L7Ae/L30e/S12e/Gad45.
[Graphical view]
PfamPF01248. Ribosomal_L7Ae. 1 hit.
[Graphical view]
SUPFAMSSF55315. SSF55315. 1 hit.
ProtoNetSearch...

Other

ChiTaRSSECISBP2. human.
GeneWikiSECISBP2.
GenomeRNAi79048.
NextBio67791.
PROQ96T21.
SOURCESearch...

Entry information

Entry nameSEBP2_HUMAN
AccessionPrimary (citable) accession number: Q96T21
Secondary accession number(s): Q5HYY1, Q8IYC0, Q9H0A1
Entry history
Integrated into UniProtKB/Swiss-Prot: January 31, 2002
Last sequence update: September 27, 2004
Last modified: July 9, 2014
This is version 103 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 9

Human chromosome 9: entries, gene names and cross-references to MIM