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    FKBP15 FKBP prolyl isomerase family member 15 [ Homo sapiens (human) ]

    Gene ID: 23307, updated on 27-Nov-2024

    Summary

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    Official Symbol
    FKBP15provided by HGNC
    Official Full Name
    FKBP prolyl isomerase family member 15provided by HGNC
    Primary source
    HGNC:HGNC:23397
    See related
    Ensembl:ENSG00000119321 MIM:617398; AllianceGenome:HGNC:23397
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    FKBP133; PPP1R76; KIAA0674
    Summary
    Predicted to enable actin binding activity and peptidyl-prolyl cis-trans isomerase activity. Predicted to be involved in endocytosis. Located in membrane. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in spleen (RPKM 13.2), appendix (RPKM 13.2) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See FKBP15 in Genome Data Viewer
    Location:
    9q32
    Exon count:
    28
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (113161006..113221277, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (125359842..125420103, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (115923286..115983557, complement)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene family with sequence similarity 225 member B Neighboring gene family with sequence similarity 225 member A Neighboring gene Sharpr-MPRA regulatory region 7760 Neighboring gene ReSE screen-validated silencer GRCh37_chr9:115900615-115900810 Neighboring gene Sharpr-MPRA regulatory region 5302 Neighboring gene ReSE screen-validated silencer GRCh37_chr9:115920203-115920404 Neighboring gene solute carrier family 31 member 2 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr9:115949815-115951014 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28833 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28834 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28835 Neighboring gene solute carrier family 31 member 1 Neighboring gene uncharacterized LOC107987119 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:116036963-116037818 Neighboring gene cell division cycle 26

    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. WAFL, a new protein involved in regulation of early endocytic transport at the intersection of actin and microtubule dynamics. Viklund IM, et al. Exp Cell Res, 2009 Apr 1. PMID 19121306
    2. FKBP133: a novel mouse FK506-binding protein homolog alters growth cone morphology. Nakajima O, et al. Biochem Biophys Res Commun, 2006 Jul 21. PMID 16756961
    3. Identification of a new WASP and FKBP-like (WAFL) protein in inflammatory bowel disease: a potential marker gene for ulcerative colitis. Viklund IM, et al. Int J Colorectal Dis, 2008 Oct. PMID 18654788
    4. The ulcerative colitis marker protein WAFL interacts with accessory proteins in endocytosis. Pan YF, et al. Int J Biol Sci, 2010 Mar 29. PMID 20376207, Free PMC Article
    5. Recruitment of the endosomal WASH complex is mediated by the extended 'tail' of Fam21 binding to the retromer protein Vps35. Harbour ME, et al. Biochem J, 2012 Feb 15. PMID 22070227

    See all (60) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. findings are compatible with a model whereby WAFL is involved in the transport of early endosomes at the level of transition between microfilament-based and microtubule-based movement.
      Title: WAFL, a new protein involved in regulation of early endocytic transport at the intersection of actin and microtubule dynamics.
    2. WAFL may play an important role in endocytosis and subsequent membrane trafficking by interacting with AP2 through KIAA0196 and KIAA1033
      Title: The ulcerative colitis marker protein WAFL interacts with accessory proteins in endocytosis.
    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)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables actin 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 endocytosis IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in actin cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in early endosome IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in growth cone IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in membrane HDA PubMed 
    located_in membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    FK506-binding protein 15
    Names
    133 kDa FK506-binding protein
    133 kDa FKBP
    FK506 binding protein 15, 133kDa
    FK506-binding protein 133kDa
    FKBP prolyl isomerase 15
    FKBP-133
    FKBP-15
    WAFL
    WASP and FKBP-like protein
    protein phosphatase 1, regulatory subunit 76
    NP_056073.1
    XP_006717081.1
    XP_006717082.1
    XP_054218510.1
    XP_054218511.1

    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_015258.2 → NP_056073.1  FK506-binding protein 15

      See identical proteins and their annotated locations for NP_056073.1

      Status: VALIDATED

      Source sequence(s)
      AB014574, AL449105, BC077732, BQ646813, DA238568
      Consensus CDS
      CCDS48007.1
      UniProtKB/Swiss-Prot
      Q05DK8, Q5T1M2, Q5T1M5, Q6DD85, Q9Y4D0
      UniProtKB/TrEMBL
      A0A8I5QJL3
      Related
      ENSP00000238256.3, ENST00000238256.8
      Conserved Domains (8) summary
      COG1340
      Location:511 → 781
      COG1340; Uncharacterized coiled-coil protein, contains DUF342 domain [Function unknown]
      pfam05029
      Location:589 → 777
      TIMELESS_C; Timeless protein C terminal region
      pfam00254
      Location:193 → 286
      FKBP_C; FKBP-type peptidyl-prolyl cis-trans isomerase
      pfam10211
      Location:715 → 780
      Ax_dynein_light; Axonemal dynein light chain
      pfam14988
      Location:694 → 871
      DUF4515; Domain of unknown function (DUF4515)
      cl00599
      Location:1014 → 1072
      Extradiol_Dioxygenase_3B_like; Subunit B of Class III Extradiol ring-cleavage dioxygenases
      cl02488
      Location:686 → 908
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
      cl17171
      Location:70 → 168
      PH-like; Pleckstrin homology-like domain

    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_000009.12 Reference GRCh38.p14 Primary Assembly

      Range
      113161006..113221277 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006717019.2 → XP_006717082.1  FK506-binding protein 15 isoform X2

      UniProtKB/TrEMBL
      A0A8I5QJL3
      Conserved Domains (8) summary
      pfam05029
      Location:521 → 709
      TIMELESS_C; Timeless protein C terminal region
      pfam00254
      Location:125 → 218
      FKBP_C; FKBP-type peptidyl-prolyl cis-trans isomerase
      pfam10211
      Location:647 → 712
      Ax_dynein_light; Axonemal dynein light chain
      pfam12795
      Location:588 → 807
      MscS_porin; Mechanosensitive ion channel porin domain
      pfam14662
      Location:465 → 677
      KASH_CCD; Coiled-coil region of CCDC155 or KASH
      cl00599
      Location:946 → 1004
      Extradiol_Dioxygenase_3B_like; Subunit B of Class III Extradiol ring-cleavage dioxygenases
      cl02488
      Location:618 → 840
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
      cl17171
      Location:2 → 100
      PH-like; Pleckstrin homology-like domain

    2. XM_006717018.3 → XP_006717081.1  FK506-binding protein 15 isoform X1

      UniProtKB/TrEMBL
      A0A8I5QJL3
      Related
      ENSP00000509797.1, ENST00000687395.1
      Conserved Domains (9) summary
      pfam00254
      Location:193 → 286
      FKBP_C; FKBP-type peptidyl-prolyl cis-trans isomerase
      pfam10211
      Location:705 → 770
      Ax_dynein_light; Axonemal dynein light chain
      pfam13863
      Location:645 → 738
      DUF4200; Domain of unknown function (DUF4200)
      pfam14988
      Location:684 → 861
      DUF4515; Domain of unknown function (DUF4515)
      pfam15619
      Location:578 → 770
      Lebercilin; Ciliary protein causing Leber congenital amaurosis disease
      cl00599
      Location:1004 → 1062
      Extradiol_Dioxygenase_3B_like; Subunit B of Class III Extradiol ring-cleavage dioxygenases
      cl02488
      Location:676 → 898
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
      cl12013
      Location:514 → 700
      BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
      cl17171
      Location:70 → 168
      PH-like; Pleckstrin homology-like domain

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      125359842..125420103 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054362536.1 → XP_054218511.1  FK506-binding protein 15 isoform X2

    2. XM_054362535.1 → XP_054218510.1  FK506-binding protein 15 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5T1M5.2 GenPept UniProtKB/Swiss-Prot:Q5T1M5

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