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FKBP7 FKBP prolyl isomerase 7 [ Homo sapiens (human) ]

Gene ID: 51661, updated on 7-Apr-2024

Summary

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Official Symbol
FKBP7provided by HGNC
Official Full Name
FKBP prolyl isomerase 7provided by HGNC
Primary source
HGNC:HGNC:3723
See related
Ensembl:ENSG00000079150 MIM:607062; AllianceGenome:HGNC:3723
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
FKBP23; PPIase
Summary
The protein encoded by this gene belongs to the FKBP-type peptidyl-prolyl cis/trans isomerase (PPIase) family. Members of this family exhibit PPIase activity and function as molecular chaperones. A similar protein in mouse is located in the endoplasmic reticulum and binds calcium. [provided by RefSeq, Jul 2008]
Expression
Broad expression in ovary (RPKM 13.6), endometrium (RPKM 9.0) and 21 other tissues See more
Orthologs
mouse all
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Genomic context

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See FKBP7 in Genome Data Viewer
Location:
2q31.2
Exon count:
5
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (178463664..178478600, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (178946457..178961394, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (179328391..179343327, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene cholesterol induced regulator of metabolism RNA Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:179315058-179315632 Neighboring gene protein activator of interferon induced protein kinase EIF2AK2 Neighboring gene uncharacterized LOC124906102 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12150 Neighboring gene uncharacterized LOC124907911 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16805 Neighboring gene nuclear distribution C pseudogene 2 Neighboring gene pejvakin Neighboring gene pleckstrin homology domain containing A3 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12151 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:179387607-179388119 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16807 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16808 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16809 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16810 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr2:179401104-179402303 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16811 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:179407630-179408829 Neighboring gene TTN antisense RNA 1 Neighboring gene titin Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr2:179440205-179441404 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:179443309-179444508 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:179456337-179457536 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr2:179471933-179473132 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr2:179478848-179480047

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. Hippocampal volume, FKBP5 genetic risk alleles, and childhood trauma interact to increase vulnerability to chronic multisite musculoskeletal pain. Lobo JJ, et al. Sci Rep, 2022 Apr 20. PMID 35444168, Free PMC Article
  2. Genetic modifiers of cardiorespiratory fitness response to lifestyle intervention. Peter I, et al. Med Sci Sports Exerc, 2014 Feb. PMID 23899896, Free PMC Article
  3. Ziploc-ing the structure 2.0: Endoplasmic reticulum-resident peptidyl prolyl isomerases show different activities toward hydroxyproline. Ishikawa Y, et al. J Biol Chem, 2017 Jun 2. PMID 28385890, Free PMC Article
  4. Genomic organization of mouse and human 65 kDa FK506-binding protein genes and evolution of the FKBP multigene family. Patterson CE, et al. Genomics, 2002 Jun. PMID 12036304
  5. Molecular cloning of a novel ubiquitin-like protein, UBIN, that binds to ER targeting signal sequences. Matsuda M, et al. Biochem Biophys Res Commun, 2001 Jan 19. PMID 11162551

See all (26) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Hippocampal volume, FKBP5 genetic risk alleles, and childhood trauma interact to increase vulnerability to chronic multisite musculoskeletal pain.
    Title: Hippocampal volume, FKBP5 genetic risk alleles, and childhood trauma interact to increase vulnerability to chronic multisite musculoskeletal pain.
  2. observed changes in activity of six rER-resident PPIases, cyclophilin B (encoded by the PPIB gene), FKBP13 (FKBP2), FKBP19 (FKBP11), FKBP22 (FKBP14), FKBP23 (FKBP7), and FKBP65 (FKBP10), due to posttranslational modifications of proline residues in the substrate.
    Title: Ziploc-ing the structure 2.0: Endoplasmic reticulum-resident peptidyl prolyl isomerases show different activities toward hydroxyproline.
  3. RUNX1 and FKBP7, involved in erythropoesis and muscle protein synthesis, respectively, are related to change in cardiorespiratory fitness in response to exercise.
    Title: Genetic modifiers of cardiorespiratory fitness response to lifestyle intervention.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC9420

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables FK506 binding ISS
Inferred from Sequence or Structural Similarity
more info
  
enables calcium ion binding IEA
Inferred from Electronic Annotation
more info
  
enables peptidyl-prolyl cis-trans isomerase activity ISS
Inferred from Sequence or Structural Similarity
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in peptidyl-proline modification ISS
Inferred from Sequence or Structural Similarity
more info
  
Component Evidence Code Pubs
located_in endoplasmic reticulum ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in endoplasmic reticulum lumen IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
peptidyl-prolyl cis-trans isomerase FKBP7
Names
23 kDa FK506-binding protein
23 kDa FKBP
FK506 binding protein 7
FK506-binding protein 23
FKBP-23
FKBP-7
PPIase FKBP7
rotamase
NP_001128684.1
NP_001397901.1
NP_851939.1
XP_011509650.1
XP_011509651.1
XP_054198524.1
XP_054198525.1

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.

mRNA and Protein(s)

  1. NM_001135212.2 → NP_001128684.1  peptidyl-prolyl cis-trans isomerase FKBP7 isoform b precursor

    See identical proteins and their annotated locations for NP_001128684.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site in the coding region, compared to variant 1. The resulting isoform (b) is 1 amino acid shorter than isoform a.
    Source sequence(s)
    AA447628, AC009948, AY353086, BC009711, DA020387
    Consensus CDS
    CCDS46462.1
    UniProtKB/Swiss-Prot
    Q9Y680
    Related
    ENSP00000415486.2, ENST00000434643.6
    Conserved Domains (3) summary
    pfam00254
    Location:46 → 140
    FKBP_C; FKBP-type peptidyl-prolyl cis-trans isomerase
    pfam13499
    Location:151 → 213
    EF-hand_7; EF-hand domain pair
    cl08302
    Location:151 → 212
    EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...

  2. NM_001410972.1 → NP_001397901.1  peptidyl-prolyl cis-trans isomerase FKBP7 isoform c precursor

    Status: REVIEWED

    Source sequence(s)
    AC009948, AK299215
    Consensus CDS
    CCDS92911.1
    UniProtKB/TrEMBL
    B4DRE2
    Related
    ENSP00000509396.1, ENST00000464248.1

  3. NM_181342.3 → NP_851939.1  peptidyl-prolyl cis-trans isomerase FKBP7 isoform a precursor

    See identical proteins and their annotated locations for NP_851939.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
    Source sequence(s)
    AA447628, AC009948, BC009711, DA020387
    Consensus CDS
    CCDS2280.1
    UniProtKB/Swiss-Prot
    Q4ZG70, Q6V3B2, Q86U65, Q96DA4, Q9Y680, Q9Y6B0
    Related
    ENSP00000413152.2, ENST00000424785.7
    Conserved Domains (2) summary
    pfam00254
    Location:46 → 141
    FKBP_C; FKBP-type peptidyl-prolyl cis-trans isomerase
    pfam13499
    Location:152 → 214
    EF-hand_7; EF-hand domain pair

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_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    178463664..178478600 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011511349.4 → XP_011509651.1  peptidyl-prolyl cis-trans isomerase FKBP7 isoform X2

    Conserved Domains (3) summary
    pfam13499
    Location:44 → 106
    EF-hand_7; EF-hand domain pair
    cl08302
    Location:44 → 105
    EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
    cl19519
    Location:17 → 33
    FKBP_C; FKBP-type peptidyl-prolyl cis-trans isomerase

  2. XM_011511348.4 → XP_011509650.1  peptidyl-prolyl cis-trans isomerase FKBP7 isoform X1

    Conserved Domains (3) summary
    pfam13499
    Location:45 → 107
    EF-hand_7; EF-hand domain pair
    cl08302
    Location:45 → 106
    EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
    cl19519
    Location:17 → 34
    FKBP_C; FKBP-type peptidyl-prolyl cis-trans isomerase

RNA

  1. XR_007076405.1 RNA Sequence

  2. XR_007076404.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    178946457..178961394 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054342550.1 → XP_054198525.1  peptidyl-prolyl cis-trans isomerase FKBP7 isoform X2

  2. XM_054342549.1 → XP_054198524.1  peptidyl-prolyl cis-trans isomerase FKBP7 isoform X1

RNA

  1. XR_008486417.1 RNA Sequence

  2. XR_008486416.1 RNA Sequence

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_016105.2: Suppressed sequence

    Description
    NM_016105.2: This RefSeq was permanently suppressed because it is now thought that this transcript does not encode a valid protein.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9Y680.2 GenPept UniProtKB/Swiss-Prot:Q9Y680

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