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SECISBP2 SECIS binding protein 2 [ Homo sapiens (human) ]

Gene ID: 79048, updated on 26-May-2016
Official Symbol
SECISBP2provided by HGNC
Official Full Name
SECIS binding protein 2provided by HGNC
Primary source
HGNC:HGNC:30972
See related
Ensembl:ENSG00000187742 HPRD:07408; MIM:607693; Vega:OTTHUMG00000020182
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
SBP2
Summary
The incorporation of selenocysteine into a protein requires the concerted action of an mRNA element called a sec insertion sequence (SECIS), a selenocysteine-specific translation elongation factor and a SECIS binding protein. With these elements in place, a UGA codon can be decoded as selenocysteine. The gene described in this record encodes a nuclear protein that functions as a SECIS binding protein. Mutations in this gene have been associated with a reduction in activity of a specific thyroxine deiodinase, a selenocysteine-containing enzyme, and abnormal thyroid hormone metabolism. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]
Orthologs
Location:
9q22.2
Exon count:
22
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 9 NC_000009.12 (89318473..89367117)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (91933394..91974561)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105376136 Neighboring gene microRNA 3153 Neighboring gene CDC28 protein kinase regulatory subunit 2 Neighboring gene semaphorin 4D Neighboring gene proliferation-associated 2G4 pseudogene 6 Neighboring gene ubiquitin-conjugating enzyme E2 variant 1 pseudogene

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

  • Metabolism, organism-specific biosystem (from REACTOME)
    Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
  • Metabolism of amino acids and derivatives, organism-specific biosystem (from REACTOME)
    Metabolism of amino acids and derivatives, organism-specific biosystemThis group of reactions is responsible for: 1) the breakdown of amino acids; 2) the synthesis of urea from ammonia and amino groups generated by amino acid breakdown; 3) the synthesis of the ten amin...
  • Selenoamino acid metabolism, organism-specific biosystem (from REACTOME)
    Selenoamino acid metabolism, organism-specific biosystemSelenium (Se) is a trace element essential for the normal function of the body. Selenoamino acids are defined as those amino acids where selenium has been substituted for sulphur. Selenium and sulp...
  • Selenocysteine synthesis, organism-specific biosystem (from REACTOME)
    Selenocysteine synthesis, organism-specific biosystemSelenocysteine, the 21st genetically encoded amino acid, is the major form of the antioxidant trace element selenium in the human body. In eukaryotes and archaea its synthesis proceeds through a phos...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • FLJ45753, DKFZp686C09169

Gene Ontology Provided by GOA

Function Evidence Code Pubs
mRNA 3'-UTR binding IDA
Inferred from Direct Assay
more info
PubMed 
poly(A) RNA binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
ribonucleoprotein complex binding IEA
Inferred from Electronic Annotation
more info
 
selenocysteine insertion sequence binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay IEA
Inferred from Electronic Annotation
more info
 
neuron development IEA
Inferred from Electronic Annotation
more info
 
selenocysteine incorporation IEA
Inferred from Electronic Annotation
more info
 
striatum development IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
intracellular ribonucleoprotein complex IEA
Inferred from Electronic Annotation
more info
 
mitochondrion IEA
Inferred from Electronic Annotation
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
Preferred Names
selenocysteine insertion sequence-binding protein 2

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_012177.1 RefSeqGene

    Range
    4977..46167
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001282688.1NP_001269617.1  selenocysteine insertion sequence-binding protein 2 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
    Source sequence(s)
    AF380995, AK302852, AL160054, BG572344, BX000356
    UniProtKB/Swiss-Prot
    Q96T21
    UniProtKB/TrEMBL
    B4DZC7
    Conserved Domains (1) summary
    pfam01248
    Location:656756
    Ribosomal_L7Ae; Ribosomal protein L7Ae/L30e/S12e/Gadd45 family
  2. NM_001282689.1NP_001269618.1  selenocysteine insertion sequence-binding protein 2 isoform 3

    See identical proteins and their annotated locations for NP_001269618.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses an alternate in-frame splice site compared to variant 1. The encoded isoform (3) is shorter than isoform 1.
    Source sequence(s)
    AK290182, AL929575, BG572344, BP219148
    Consensus CDS
    CCDS65076.1
    UniProtKB/Swiss-Prot
    Q96T21
    Related
    ENSP00000364959, OTTHUMP00000069896, ENST00000339901, OTTHUMT00000143493
    Conserved Domains (1) summary
    pfam01248
    Location:584684
    Ribosomal_L7Ae; Ribosomal protein L7Ae/L30e/S12e/Gadd45 family
  3. NM_001282690.1NP_001269619.1  selenocysteine insertion sequence-binding protein 2 isoform 4

    See identical proteins and their annotated locations for NP_001269619.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) uses an alternate terminal exon which results in the use of a downstream start codon compared to variant 1. The encoded isoform (4) has a shorter N-terminus compared to isoform 1
    Source sequence(s)
    AK299161, AL160054, AL929575, BG572344, BX000356
    Consensus CDS
    CCDS65077.1
    UniProtKB/TrEMBL
    B4DR97
    Related
    ENSP00000436650, ENST00000534113
    Conserved Domains (1) summary
    pfam01248
    Location:589689
    Ribosomal_L7Ae; Ribosomal protein L7Ae/L30e/S12e/Gadd45 family
  4. NM_024077.4NP_076982.3  selenocysteine insertion sequence-binding protein 2 isoform 1

    See identical proteins and their annotated locations for NP_076982.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    BC068466, BG572344, BP219148
    Consensus CDS
    CCDS6683.1
    UniProtKB/Swiss-Prot
    Q96T21
    Related
    ENSP00000364965, OTTHUMP00000021618, ENST00000375807, OTTHUMT00000052990
    Conserved Domains (1) summary
    pfam01248
    Location:657757
    Ribosomal_L7Ae; Ribosomal protein L7Ae/L30e/S12e/Gadd45 family

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p2 Primary Assembly

    Range
    89318473..89367117
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005252196.2XP_005252253.1  

    Conserved Domains (1) summary
    pfam01248
    Location:618718
    Ribosomal_L7Ae; Ribosomal protein L7Ae/L30e/S12e/Gadd45 family
  2. XM_011519000.1XP_011517302.1  

    See identical proteins and their annotated locations for XP_011517302.1

    UniProtKB/Swiss-Prot
    Q96T21
    Conserved Domains (1) summary
    pfam01248
    Location:589689
    Ribosomal_L7Ae; Ribosomal protein L7Ae/L30e/S12e/Gadd45 family
  3. XM_011519001.1XP_011517303.1  

    Conserved Domains (1) summary
    pfam01248
    Location:559659
    Ribosomal_L7Ae; Ribosomal protein L7Ae/L30e/S12e/Gadd45 family
  4. XM_011519002.1XP_011517304.1  

    Conserved Domains (1) summary
    pfam01248
    Location:551651
    Ribosomal_L7Ae; Ribosomal protein L7Ae/L30e/S12e/Gadd45 family
  5. XM_011519003.1XP_011517305.1  

    Conserved Domains (1) summary
    pfam01248
    Location:550650
    Ribosomal_L7Ae; Ribosomal protein L7Ae/L30e/S12e/Gadd45 family
  6. XM_006717282.2XP_006717345.1  

    See identical proteins and their annotated locations for XP_006717345.1

    UniProtKB/Swiss-Prot
    Q96T21
    Conserved Domains (1) summary
    pfam01248
    Location:584684
    Ribosomal_L7Ae; Ribosomal protein L7Ae/L30e/S12e/Gadd45 family
  7. XM_005252202.2XP_005252259.1  

    Conserved Domains (1) summary
    pfam01248
    Location:358458
    Ribosomal_L7Ae; Ribosomal protein L7Ae/L30e/S12e/Gadd45 family

RNA

  1. XR_929840.1 RNA Sequence

  2. XR_929843.1 RNA Sequence

  3. XR_929841.1 RNA Sequence

  4. XR_929842.1 RNA Sequence

Alternate CHM1_1.1

Genomic

  1. NC_018920.2 Alternate CHM1_1.1

    Range
    92082215..92123405
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)