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    FKBP14 FKBP prolyl isomerase 14 [ Homo sapiens (human) ]

    Gene ID: 55033, updated on 19-May-2024

    Summary

    Official Symbol
    FKBP14provided by HGNC
    Official Full Name
    FKBP prolyl isomerase 14provided by HGNC
    Primary source
    HGNC:HGNC:18625
    See related
    Ensembl:ENSG00000106080 MIM:614505; AllianceGenome:HGNC:18625
    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
    EDSKMH; FKBP22; IPBP12; EDSKSCL2
    Summary
    The protein encoded by this gene is a member of the FK506-binding protein family of peptidyl-prolyl cis-trans isomerases. The encoded protein is found in the lumen of the endoplasmic reticulum, where it is thought to accelerate protein folding. Defects in this gene are a cause of a type of Ehlers-Danlos syndrome (EDS). Both a protein-coding variant and noncoding variants are transcribed from this gene. [provided by RefSeq, Mar 2012]
    Expression
    Ubiquitous expression in endometrium (RPKM 5.0), urinary bladder (RPKM 4.2) and 24 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See FKBP14 in Genome Data Viewer
    Location:
    7p14.3
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (30005923..30026702, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (30143627..30164384, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (30050203..30066318, complement)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene WAS/WASL interacting protein family member 3 Neighboring gene small nucleolar RNA U13 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:29968955-29969454 Neighboring gene secernin 1 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr7:30000281-30001070 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18049 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18050 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18051 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18052 Neighboring gene FKBP14 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25803 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18053 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25804 Neighboring gene pleckstrin homology domain containing A8 Neighboring gene NANOG hESC enhancer GRCh37_chr7:30120436-30120962 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25805 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:30150426-30150612 Neighboring gene uncharacterized LOC105375216 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:30174520-30174897 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18055 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18056 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:30188905-30189404 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18057 Neighboring gene maturin, neural progenitor differentiation regulator homolog

    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

    EBI GWAS Catalog

    Description
    Genome-wide association study of circulating estradiol, testosterone, and sex hormone-binding globulin in postmenopausal women.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ20731

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables peptidyl-prolyl cis-trans isomerase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in endoplasmic reticulum lumen TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    peptidyl-prolyl cis-trans isomerase FKBP14
    Names
    22 kDa FK506-binding protein
    22 kDa FKBP
    FK506 binding protein 14, 22 kDa
    FK506-binding protein 14
    FKBP-22
    PPIase FKBP14
    rotamase
    NP_060416.1
    XP_047276506.1
    XP_054214513.1

    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.

    Genomic

    1. NG_032173.1 RefSeqGene

      Range
      5001..21219
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_454

    mRNA and Protein(s)

    1. NM_017946.4NP_060416.1  peptidyl-prolyl cis-trans isomerase FKBP14 precursor

      See identical proteins and their annotated locations for NP_060416.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the protein-coding transcript.
      Source sequence(s)
      AC007285, AK000738, CR748502, DA166879
      Consensus CDS
      CCDS5423.1
      UniProtKB/Swiss-Prot
      Q9NWM8
      UniProtKB/TrEMBL
      A0A090N7V8
      Related
      ENSP00000222803.5, ENST00000222803.10
      Conserved Domains (2) summary
      COG0545
      Location:43135
      FkpA; FKBP-type peptidyl-prolyl cis-trans isomerase [Posttranslational modification, protein turnover, chaperones]
      pfam13499
      Location:141204
      EF-hand_7; EF-hand domain pair

    RNA

    1. NR_046478.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) contains an alternate exon compared to variant 1, that causes a frameshift. The resulting transcript is not thought to be protein-coding.
      Source sequence(s)
      AC007285, AK000738, AK309552, CR748502, DA166879, DB498479
    2. NR_046479.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an alternate exon compared to variant 1, that causes a frameshift. The resulting transcript is not thought to be protein-coding.
      Source sequence(s)
      AC007285, AK000738, AK309552, CR748502, DA166879

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      30005923..30026702 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047420550.1XP_047276506.1  peptidyl-prolyl cis-trans isomerase FKBP14 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      30143627..30164384 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054358538.1XP_054214513.1  peptidyl-prolyl cis-trans isomerase FKBP14 isoform X1