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FKBP1A FK506 binding protein 1A, 12kDa [ Homo sapiens (human) ]

Gene ID: 2280, updated on 29-Jul-2014
Official Symbol
FKBP1Aprovided by HGNC
Official Full Name
FK506 binding protein 1A, 12kDaprovided by HGNC
Primary source
HGNC:3711
Locus tag
RP11-314N13.2
See related
Ensembl:ENSG00000088832; HPRD:01741; MIM:186945; Vega:OTTHUMG00000031666
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
FKBP1; PKC12; PKCI2; FKBP12; PPIASE; FKBP-12; FKBP-1A
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. The protein is a cis-trans prolyl isomerase that binds the immunosuppressants FK506 and rapamycin. It interacts with several intracellular signal transduction proteins including type I TGF-beta receptor. It also interacts with multiple intracellular calcium release channels, and coordinates multi-protein complex formation of the tetrameric skeletal muscle ryanodine receptor. In mouse, deletion of this homologous gene causes congenital heart disorder known as noncompaction of left ventricular myocardium. Multiple alternatively spliced variants, encoding the same protein, have been identified. The human genome contains five pseudogenes related to this gene, at least one of which is transcribed. [provided by RefSeq, Sep 2008]
See FKBP1A in Epigenomics, MapViewer
Location:
20p13
Exon count:
5
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 20 NC_000020.11 (1368977..1393172, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (1349621..1373816, complement)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene syntaphilin Neighboring gene FKBP1A-SDCBP2 readthrough (NMD candidate) Neighboring gene syndecan binding protein (syntenin) 2 Neighboring gene SDCBP2 antisense RNA 1 Neighboring gene microRNA 6869 Neighboring gene uncharacterized LOC102724529 Neighboring gene NSFL1 (p97) cofactor (p47)

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp120 env Macrophage- and T-cell-tropic V3 loop peptides of HIV-1 gp120 bind specifically to the active site of the immunophilins FK506-binding protein (FKBP12), and cyclophilins A and B, and inhibit their peptidyl-prolyl cis-trans isomerase (PPIase) activities PubMed

Go to the HIV-1, Human Protein Interaction Database

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
FK506 binding IDA
Inferred from Direct Assay
more info
PubMed 
FK506 binding NAS
Non-traceable Author Statement
more info
PubMed 
SMAD binding IPI
Inferred from Physical Interaction
more info
PubMed 
activin binding IPI
Inferred from Physical Interaction
more info
PubMed 
NOT calcium channel inhibitor activity IDA
Inferred from Direct Assay
more info
PubMed 
ion channel binding ISS
Inferred from Sequence or Structural Similarity
more info
 
macrolide binding NAS
Non-traceable Author Statement
more info
PubMed 
peptidyl-prolyl cis-trans isomerase activity IDA
Inferred from Direct Assay
more info
PubMed 
peptidyl-prolyl cis-trans isomerase activity TAS
Traceable Author Statement
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
contributes_to ryanodine-sensitive calcium-release channel activity TAS
Traceable Author Statement
more info
PubMed 
signal transducer activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
transforming growth factor beta receptor binding ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
contributes_to transforming growth factor beta-activated receptor activity TAS
Traceable Author Statement
more info
PubMed 
type I transforming growth factor beta receptor binding ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
Process Evidence Code Pubs
'de novo' protein folding TAS
Traceable Author Statement
more info
PubMed 
SMAD protein complex assembly IDA
Inferred from Direct Assay
more info
PubMed 
T cell activation NAS
Non-traceable Author Statement
more info
PubMed 
amyloid fibril formation IDA
Inferred from Direct Assay
more info
PubMed 
calcium ion transmembrane transport NAS
Non-traceable Author Statement
more info
PubMed 
chaperone-mediated protein folding IBA
Inferred from Biological aspect of Ancestor
more info
 
extracellular fibril organization IDA
Inferred from Direct Assay
more info
PubMed 
heart morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
heart trabecula formation ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of protein phosphatase type 2B activity IDA
Inferred from Direct Assay
more info
PubMed 
NOT negative regulation of release of sequestered calcium ion into cytosol IDA
Inferred from Direct Assay
more info
PubMed 
NOT negative regulation of ryanodine-sensitive calcium-release channel activity IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of I-kappaB kinase/NF-kappaB signaling IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of protein binding IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of protein ubiquitination IDA
Inferred from Direct Assay
more info
PubMed 
protein folding NAS
Non-traceable Author Statement
more info
PubMed 
protein maturation by protein folding TAS
Traceable Author Statement
more info
PubMed 
protein peptidyl-prolyl isomerization IDA
Inferred from Direct Assay
more info
PubMed 
protein refolding TAS
Traceable Author Statement
more info
PubMed 
regulation of activin receptor signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
regulation of amyloid precursor protein catabolic process IGI
Inferred from Genetic Interaction
more info
 
regulation of immune response IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of protein localization IGI
Inferred from Genetic Interaction
more info
 
regulation of ryanodine-sensitive calcium-release channel activity IDA
Inferred from Direct Assay
more info
PubMed 
regulation of ryanodine-sensitive calcium-release channel activity ISS
Inferred from Sequence or Structural Similarity
more info
 
transforming growth factor beta receptor signaling pathway TAS
Traceable Author Statement
more info
 
ventricular cardiac muscle tissue morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
Z disc IDA
Inferred from Direct Assay
more info
 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
endoplasmic reticulum membrane IBA
Inferred from Biological aspect of Ancestor
more info
 
extracellular vesicular exosome IDA
Inferred from Direct Assay
more info
 
membrane IDA
Inferred from Direct Assay
more info
PubMed 
terminal cisterna ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
Preferred Names
peptidyl-prolyl cis-trans isomerase FKBP1A
Names
peptidyl-prolyl cis-trans isomerase FKBP1A
rotamase
12 kDa FKBP
calstabin 1
calstabin-1
FKBP12-Exip3
PPIase FKBP1A
immunophilin FKBP12
FK506 binding protein12
FK506-binding protein 1
FK506-binding protein 12
12 kDa FK506-binding protein
protein kinase C inhibitor 2
FK506-binding protein 1A (12kD)
FK506-binding protein, T-cell, 12-kD
NP_000792.1
NP_001186715.1
NP_463460.1

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_000801.4NP_000792.1  peptidyl-prolyl cis-trans isomerase FKBP1A isoform a

    See proteins identical to NP_000792.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1, also known as 12B) represents the longest transcript and encodes the longer isoform (a). Both variants 1 and 2 encode the same isoform (a).
    Source sequence(s)
    AL136531, BC119732, CA450516, CX870892
    Consensus CDS
    CCDS13014.1
    UniProtKB/Swiss-Prot
    P62942
    UniProtKB/TrEMBL
    Q0VDC6
    Related
    ENSP00000383003, OTTHUMP00000029977, ENST00000400137, OTTHUMT00000077534
    Conserved Domains (2) summary
    COG0545
    Location:2106
    Blast Score: 381
    FkpA; FKBP-type peptidyl-prolyl cis-trans isomerases 1 [Posttranslational modification, protein turnover, chaperones]
    pfam00254
    Location:13105
    Blast Score: 356
    FKBP_C; FKBP-type peptidyl-prolyl cis-trans isomerase
  2. NM_001199786.1NP_001186715.1  peptidyl-prolyl cis-trans isomerase FKBP1A isoform b

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an exon in the coding region, which results in a frameshift compared to variant 1. The encoded isoform (b) is shorter and has a distinct C-terminus, compared to isoform a.
    Source sequence(s)
    AL136531, BU540706, CA450516, CX870892
    Conserved Domains (1) summary
    COG0545
    Location:228
    Blast Score: 78
    FkpA; FKBP-type peptidyl-prolyl cis-trans isomerases 1 [Posttranslational modification, protein turnover, chaperones]
  3. NM_054014.3NP_463460.1  peptidyl-prolyl cis-trans isomerase FKBP1A isoform a

    See proteins identical to NP_463460.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2, also known as 12A) differs in the 3' UTR, compared to variant 1. Both variants 1 and 2 encode the same isoform (a).
    Source sequence(s)
    BC005147, CN426120, CX870892, X52220
    Consensus CDS
    CCDS13014.1
    UniProtKB/Swiss-Prot
    P62942
    Related
    ENSP00000371138, OTTHUMP00000029978, ENST00000381719, OTTHUMT00000077535
    Conserved Domains (2) summary
    COG0545
    Location:2106
    Blast Score: 381
    FkpA; FKBP-type peptidyl-prolyl cis-trans isomerases 1 [Posttranslational modification, protein turnover, chaperones]
    pfam00254
    Location:13105
    Blast Score: 356
    FKBP_C; FKBP-type peptidyl-prolyl cis-trans isomerase

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000020.11 

    Range
    1368977..1393172
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000152.1 

    Range
    1302109..1326302
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018931.2 

    Range
    1349285..1373817
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)