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    SPIB Spi-B transcription factor [ Homo sapiens (human) ]

    Gene ID: 6689, updated on 11-Jun-2021

    Summary

    Official Symbol
    SPIBprovided by HGNC
    Official Full Name
    Spi-B transcription factorprovided by HGNC
    Primary source
    HGNC:HGNC:11242
    See related
    Ensembl:ENSG00000269404 MIM:606802
    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
    SPI-B
    Summary
    The protein encoded by this gene is a transcriptional activator that binds to the PU-box (5'-GAGGAA-3') and acts as a lymphoid-specific enhancer. Four transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]
    Expression
    Biased expression in lymph node (RPKM 17.1), appendix (RPKM 10.5) and 7 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See SPIB in Genome Data Viewer
    Location:
    19q13.33
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (50418938..50431314)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (50922195..50934571)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene nuclear receptor subfamily 1 group H member 2 Neighboring gene DNA polymerase delta 1, catalytic subunit Neighboring gene myosin binding protein C2 Neighboring gene family with sequence similarity 71 member E1 Neighboring gene ER membrane protein complex subunit 10

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis.
    GeneReviews: Not available
    Genome-wide meta-analyses identify three loci associated with primary biliary cirrhosis.
    GeneReviews: Not available

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    General protein information

    Preferred Names
    transcription factor Spi-B
    Names
    Spi-B transcription factor (Spi-1/PU.1 related)

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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.

    mRNA and Protein(s)

    1. NM_001243998.2NP_001230927.1  transcription factor Spi-B isoform 2

      See identical proteins and their annotated locations for NP_001230927.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate coding exon compared to variant 1, that causes a frameshift. The resulting isoform (2) has a shorter and distinct N-terminus compared to isoform 1.
      Source sequence(s)
      AC020909
      Consensus CDS
      CCDS58674.1
      UniProtKB/Swiss-Prot
      Q01892
      Related
      ENSP00000391877.2, ENST00000439922.6
      Conserved Domains (1) summary
      smart00413
      Location:77165
      ETS; erythroblast transformation specific domain
    2. NM_001243999.2NP_001230928.1  transcription factor Spi-B isoform 3

      See identical proteins and their annotated locations for NP_001230928.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3, also known as DeltaSpi-B) uses an alternate splice junction at the 3' end of a coding exon compared to variant 1, that causes a frameshift. The resulting isoform (3) has a shorter and distinct C-terminus compared to isoform 1. This isoform is found in the cytoplasm instead of the nucleus.
      Source sequence(s)
      AC020909
      Consensus CDS
      CCDS59412.1
      UniProtKB/Swiss-Prot
      Q01892
      Related
      ENSP00000270632.7, ENST00000270632.7
    3. NM_001244000.2NP_001230929.2  transcription factor Spi-B isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) uses an alternate splice junction at the 5' end of a coding exon compared to variant 1, that causes a frameshift. The resulting isoform (4) has a shorter and distinct N-terminus compared to isoform 1.
      Source sequence(s)
      AC020909
      Conserved Domains (1) summary
      smart00413
      Location:137225
      ETS; erythroblast transformation specific domain
    4. NM_003121.5NP_003112.2  transcription factor Spi-B isoform 1

      See identical proteins and their annotated locations for NP_003112.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AC020909
      Consensus CDS
      CCDS33080.1
      UniProtKB/Swiss-Prot
      Q01892
      UniProtKB/TrEMBL
      A0A024R4I5
      Related
      ENSP00000471921.1, ENST00000595883.6
      Conserved Domains (1) summary
      smart00413
      Location:168256
      ETS; erythroblast transformation specific domain

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p13 Primary Assembly

      Range
      50418938..50431314
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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