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    FKBP8 FKBP prolyl isomerase 8 [ Homo sapiens (human) ]

    Gene ID: 23770, updated on 7-Jul-2019

    Summary

    Official Symbol
    FKBP8provided by HGNC
    Official Full Name
    FKBP prolyl isomerase 8provided by HGNC
    Primary source
    HGNC:HGNC:3724
    See related
    Ensembl:ENSG00000105701 MIM:604840
    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
    FKBP38; FKBPr38
    Summary
    The protein encoded by this gene is a member of the immunophilin protein family, which play a role in immunoregulation and basic cellular processes involving protein folding and trafficking. Unlike the other members of the family, this encoded protein does not seem to have PPIase/rotamase activity. It may have a role in neurons associated with memory function. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in testis (RPKM 106.8), brain (RPKM 101.5) and 25 other tissues See more
    Orthologs

    Genomic context

    See FKBP8 in Genome Data Viewer
    Location:
    19p13.11
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    109.20190607 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (18531763..18543573, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (18642568..18654887, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene single stranded DNA binding protein 4 Neighboring gene inositol-3-phosphate synthase 1 Neighboring gene elongation factor for RNA polymerase II Neighboring gene Sharpr-MPRA regulatory region 11651 Neighboring gene KxDL motif containing 1 Neighboring gene ubiquitin A-52 residue ribosomal protein fusion product 1 Neighboring gene required for excision 1-B domain containing

    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 FunctionsWhat's a GeneRIF?

    Pathways from BioSystems

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    disordered domain specific binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    peptidyl-prolyl cis-trans isomerase activity IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    camera-type eye development IEA
    Inferred from Electronic Annotation
    more info
     
    cell fate specification IEA
    Inferred from Electronic Annotation
    more info
     
    dorsal/ventral neural tube patterning IEA
    Inferred from Electronic Annotation
    more info
     
    intracellular signal transduction TAS
    Traceable Author Statement
    more info
    PubMed 
    multicellular organism growth IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of protein phosphorylation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of BMP signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    protein peptidyl-prolyl isomerization IEA
    Inferred from Electronic Annotation
    more info
     
    smoothened signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    viral process IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    cytosol IDA
    Inferred from Direct Assay
    more info
     
    endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
     
    integral component of endoplasmic reticulum membrane IEA
    Inferred from Electronic Annotation
    more info
     
    membrane HDA PubMed 
    mitochondrial membrane IEA
    Inferred from Electronic Annotation
    more info
     
    mitochondrion IDA
    Inferred from Direct Assay
    more info
     
    protein-containing complex IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 

    General protein information

    Preferred Names
    peptidyl-prolyl cis-trans isomerase FKBP8
    Names
    38 kDa FK506-binding protein
    38 kDa FKBP
    FK506 binding protein 8, 38kDa
    FK506-binding protein 8
    FKBP-38
    FKBP-8
    PPIase FKBP8
    hFKBP38
    rotamase
    NP_001295302.1
    NP_036313.3

    NCBI Reference Sequences (RefSeq)

    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_001308373.2NP_001295302.1  peptidyl-prolyl cis-trans isomerase FKBP8 isoform 2

      See identical proteins and their annotated locations for NP_001295302.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site at an internal exon compared to variant 1. It encodes isoform 2, which is shorter than isoform 1.
      Source sequence(s)
      AK313363, AY278607, BU752982, DB471984
      Consensus CDS
      CCDS77266.1
      UniProtKB/Swiss-Prot
      Q14318
      UniProtKB/TrEMBL
      A0A024R7P2, B2R8G6
      Related
      ENSP00000222308.4, ENST00000222308.8
      Conserved Domains (3) summary
      COG0457
      Location:215338
      TPR; Tetratricopeptide (TPR) repeat [General function prediction only]
      sd00006
      Location:230266
      TPR; TPR repeat [structural motif]
      pfam00254
      Location:113201
      FKBP_C; FKBP-type peptidyl-prolyl cis-trans isomerase
    2. NM_012181.5NP_036313.3  peptidyl-prolyl cis-trans isomerase FKBP8 isoform 1

      See identical proteins and their annotated locations for NP_036313.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      BC009966, BU752982, BX538124
      Consensus CDS
      CCDS32961.1
      UniProtKB/Swiss-Prot
      Q14318
      Related
      ENSP00000476767.1, ENST00000608443.6
      Conserved Domains (4) summary
      smart00028
      Location:307340
      TPR; Tetratricopeptide repeats
      sd00006
      Location:231267
      TPR; TPR repeat [structural motif]
      pfam00254
      Location:113202
      FKBP_C; FKBP-type peptidyl-prolyl cis-trans isomerase
      pfam13414
      Location:274338
      TPR_11; TPR repeat

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

    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
      18531763..18543573 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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