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

Gene ID: 55033, updated on 23-Nov-2021

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
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
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Genomic context

See FKBP14 in Genome Data Viewer
Location:
7p14.3
Exon count:
5
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (30010587..30026702, complement)
105.20201022 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 secernin 1 Neighboring gene FKBP14 antisense RNA 1 Neighboring gene pleckstrin homology domain containing A8 Neighboring gene uncharacterized LOC105375216 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

Associated conditions

Description Tests
Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss Compare labs
Genome-wide association study of circulating estradiol, testosterone, and sex hormone-binding globulin in postmenopausal women.
GeneReviews: Not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

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 
Process Evidence Code Pubs
involved_in protein peptidyl-prolyl isomerization IEA
Inferred from Electronic Annotation
more info
 
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

NCBI Reference Sequences (RefSeq)

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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: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p13 Primary Assembly

    Range
    30010587..30026702 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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