U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from GEO Profiles

    • Showing Current items.

    FKBP6 FKBP prolyl isomerase family member 6 (inactive) [ Homo sapiens (human) ]

    Gene ID: 8468, updated on 27-Nov-2024

    Summary

    Official Symbol
    FKBP6provided by HGNC
    Official Full Name
    FKBP prolyl isomerase family member 6 (inactive)provided by HGNC
    Primary source
    HGNC:HGNC:3722
    See related
    Ensembl:ENSG00000077800 MIM:604839; AllianceGenome:HGNC:3722
    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
    FKBP36; SPGF77
    Summary
    The protein encoded by this gene is a cis-trans peptidyl-prolyl isomerase that may function in immunoregulation and basic cellular processes involving protein folding and trafficking. This gene is located in a chromosomal region that is deleted in Williams-Beuren syndrome. Defects in this gene may cause male infertility. There are multiple pseudogenes for this gene located nearby on chromosome 7. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
    Expression
    Restricted expression toward testis (RPKM 29.4) See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See FKBP6 in Genome Data Viewer
    Location:
    7q11.23
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (73328161..73358625)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (74528332..74558802)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (72742164..72772634)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene POM121 transmembrane nucleoporin B (pseudogene) Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:72732543-72733436 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:72733437-72734329 Neighboring gene NOP2/Sun RNA methyltransferase 5 Neighboring gene ribosomal protein L7a pseudogene 77 Neighboring gene tripartite motif containing 50 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:72756115-72757059 Neighboring gene RNA, U6 small nuclear 1080, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26121 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:72809718-72810218 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:72810219-72810719 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26122 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18246 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:72842892-72843613 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:72847927-72848800 Neighboring gene Sharpr-MPRA regulatory region 10074 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:72856950-72857920 Neighboring gene frizzled class receptor 9 Neighboring gene bromodomain adjacent to zinc finger domain 1B Neighboring gene RNA, U6 small nuclear 1198, pseudogene

    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
    Spermatogenic failure 77
    MedGen: C5774245 OMIM: 620103 GeneReviews: Not available
    not available

    EBI GWAS Catalog

    Description
    Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients.
    EBI GWAS Catalog

    HIV-1 interactions

    Replication interactions

    Interaction Pubs
    Knockdown of FK506 binding protein 6, 36kDa (FKBP6) by siRNA enhances the early stages of HIV-1 replication in HeLa-CD4 cells infected with viral pseudotypes HIV89.6R and HIV8.2N PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC87179

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables FK506 binding TAS
    Traceable Author Statement
    more info
    PubMed 
    enables Hsp90 protein binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables Hsp90 protein binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    NOT 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 cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in meiotic cell cycle ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in piRNA processing IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in piRNA processing ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of viral genome replication IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in protein folding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulatory ncRNA-mediated gene silencing ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in spermatogenesis IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in spermatogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in transposable element silencing by piRNA-mediated DNA methylation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in cytosol ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in synaptonemal complex ISS
    Inferred from Sequence or Structural Similarity
    more info
     

    General protein information

    Preferred Names
    inactive peptidyl-prolyl cis-trans isomerase FKBP6
    Names
    36 kDa FKBP
    FK506 binding protein 6, 36kDa
    FK506-binding protein 6
    FKBP prolyl isomerase 6
    PPIase FKBP6
    immunophilin FKBP36
    inactive PPIase FKBP6
    peptidyl-prolyl cis-trans isomerase FKBP6
    rotamase
    NP_001128683.1
    NP_001268233.1
    NP_001349718.1
    NP_003593.3
    XP_047276940.1
    XP_047276941.1
    XP_047276942.1
    XP_054215237.1
    XP_054215238.1
    XP_054215239.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_023242.2 RefSeqGene

      Range
      5006..35470
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001135211.3NP_001128683.1  inactive peptidyl-prolyl cis-trans isomerase FKBP6 isoform b

      See identical proteins and their annotated locations for NP_001128683.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate upstream start codon, compared to variant 1. The encoded isoform (b) is shorter and has a distinct N-terminus, compared to isoform a.
      Source sequence(s)
      AA909474, AC211540, AK302121, BI461016
      Consensus CDS
      CCDS47604.1
      UniProtKB/Swiss-Prot
      O75344
      Related
      ENSP00000416277.2, ENST00000431982.6
      Conserved Domains (3) summary
      COG0457
      Location:159310
      TPR; Tetratricopeptide (TPR) repeat [General function prediction only]
      sd00006
      Location:216242
      TPR; TPR repeat [structural motif]
      pfam00254
      Location:46135
      FKBP_C; FKBP-type peptidyl-prolyl cis-trans isomerase
    2. NM_001281304.2NP_001268233.1  inactive peptidyl-prolyl cis-trans isomerase FKBP6 isoform c

      See identical proteins and their annotated locations for NP_001268233.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an alternate in-frame exon, compared to variant 1. The encoded isoform (c) is shorter than isoform a.
      Source sequence(s)
      AA909474, AC211540, AF447060, AK302121, DB450796
      Consensus CDS
      CCDS64670.1
      UniProtKB/Swiss-Prot
      O75344
      Related
      ENSP00000394952.2, ENST00000413573.6
      Conserved Domains (3) summary
      COG0457
      Location:134285
      TPR; Tetratricopeptide (TPR) repeat [General function prediction only]
      sd00006
      Location:191218
      TPR; TPR repeat [structural motif]
      pfam00254
      Location:62110
      FKBP_C; FKBP-type peptidyl-prolyl cis-trans isomerase
    3. NM_001362789.2NP_001349718.1  inactive peptidyl-prolyl cis-trans isomerase FKBP6 isoform d

      Status: REVIEWED

      Source sequence(s)
      AA909474, AC211540, AK302121, BG704958, BI461017, DC397811
      UniProtKB/TrEMBL
      C9JM01
      Related
      ENSP00000402360.1, ENST00000442793.5
      Conserved Domains (2) summary
      sd00006
      Location:176202
      TPR; TPR repeat [structural motif]
      pfam00254
      Location:46135
      FKBP_C; FKBP-type peptidyl-prolyl cis-trans isomerase
    4. NM_003602.5NP_003593.3  inactive peptidyl-prolyl cis-trans isomerase FKBP6 isoform a

      See identical proteins and their annotated locations for NP_003593.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
      Source sequence(s)
      AC211540, BC036817, DB450796
      Consensus CDS
      CCDS43595.1
      UniProtKB/Swiss-Prot
      B4DXT7, G3V0I2, O75344, Q7Z4T4, Q9UDS0
      Related
      ENSP00000252037.4, ENST00000252037.5
      Conserved Domains (3) summary
      COG0457
      Location:164315
      TPR; Tetratricopeptide (TPR) repeat [General function prediction only]
      sd00006
      Location:221247
      TPR; TPR repeat [structural motif]
      pfam00254
      Location:51140
      FKBP_C; FKBP-type peptidyl-prolyl cis-trans isomerase

    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_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      73328161..73358625
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047420984.1XP_047276940.1  inactive peptidyl-prolyl cis-trans isomerase FKBP6 isoform X1

    2. XM_047420985.1XP_047276941.1  inactive peptidyl-prolyl cis-trans isomerase FKBP6 isoform X2

    3. XM_047420986.1XP_047276942.1  inactive peptidyl-prolyl cis-trans isomerase FKBP6 isoform X3

      Related
      ENSP00000497448.1, ENST00000648538.1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      74528332..74558802
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054359262.1XP_054215237.1  inactive peptidyl-prolyl cis-trans isomerase FKBP6 isoform X1

    2. XM_054359263.1XP_054215238.1  inactive peptidyl-prolyl cis-trans isomerase FKBP6 isoform X2

    3. XM_054359264.1XP_054215239.1  inactive peptidyl-prolyl cis-trans isomerase FKBP6 isoform X3