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

    Gene ID: 23770, updated on 27-Nov-2024

    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; AllianceGenome:HGNC:3724
    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See FKBP8 in Genome Data Viewer
    Location:
    19p13.11
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (18531763..18543573, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (18667119..18678929, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (18642573..18654383, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene single stranded DNA binding protein 4 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:18546343-18547240 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:18548168-18549155 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:18549156-18550142 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14319 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14320 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10402 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:18557131-18557659 Neighboring gene inositol-3-phosphate synthase 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:18561006-18561812 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:18561813-18562619 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:18566359-18566575 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14321 Neighboring gene elongation factor for RNA polymerase II Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:18579531-18580168 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10403 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10404 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:18587281-18588108 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:18589364-18590266 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:18594428-18594928 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:18594929-18595429 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:18596277-18596862 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:18605831-18606730 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14323 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:18611236-18612222 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14324 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:18618231-18619072 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10405 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:18631869-18632384 Neighboring gene OCT4-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:18632385-18632900 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14325 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:18640318-18641203 Neighboring gene Sharpr-MPRA regulatory region 11651 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:18652136-18652636 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10407 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:18667707-18668498 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:18668499-18669288 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:18672913-18673498 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:18682001-18682677 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:18683356-18684032 Neighboring gene KxDL motif containing 1 Neighboring gene ubiquitin A-52 residue ribosomal protein fusion product 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10409 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:18702459-18702982 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 Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA polymerase II CTD heptapeptide repeat P3 isomerase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables RNA polymerase II CTD heptapeptide repeat P6 isomerase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables calmodulin binding EXP
    Inferred from Experiment
    more info
    PubMed 
    enables calmodulin binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables disordered domain specific binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein folding chaperone IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables protein folding chaperone IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in BMP signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in camera-type eye development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in dorsal/ventral neural tube patterning IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in intracellular signal transduction TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in multicellular organism growth IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of apoptotic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in negative regulation of protein phosphorylation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in neuron fate specification IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of BMP signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in protein folding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    acts_upstream_of_or_within protein folding IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in protein localization to mitochondrion IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    involved_in regulation of mitophagy IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in smoothened signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    is_active_in endomembrane system IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
     
    located_in endoplasmic reticulum membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in membrane HDA PubMed 
    is_active_in membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    is_active_in mitochondrial envelope IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in mitochondrial membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in mitochondrion HTP PubMed 
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
     
    part_of 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)

    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_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
      C8C9T5, Q14318, Q53GU3, Q7Z349, Q86YK6
      UniProtKB/TrEMBL
      B7Z6M0
      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/TrEMBL
      B7Z6M0
      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: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      18667119..18678929 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)