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

    Gene ID: 51661, updated on 27-Dec-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_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (178463664..178478600, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (178946457..178961394, complement)
    RS_2024_09 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: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 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 (32) 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)

    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 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 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 regulation of transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    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_2024_08

    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

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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