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

Gene ID: 8468, updated on 3-Apr-2024

Summary

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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
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Genomic context

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Location:
7q11.23
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (73328161..73358625)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (74528332..74558802)
105.20220307 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

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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. The piRNA-pathway factor FKBP6 is essential for spermatogenesis but dispensable for control of meiotic LINE-1 expression in humans. Wyrwoll MJ, et al. Am J Hum Genet, 2022 Oct 6. PMID 36150389, Free PMC Article
  2. Mutation screening of the FKBP6 gene and its association study with spermatogenic impairment in idiopathic infertile men. Zhang W, et al. Reproduction, 2007 Feb. PMID 17307919
  3. Is a genetic defect in Fkbp6 a common cause of azoospermia in humans? Miyamato T, et al. Cell Mol Biol Lett, 2006. PMID 16983454, Free PMC Article
  4. Mutations in the chromosome pairing gene FKBP6 are not a common cause of non-obstructive azoospermia. Westerveld GH, et al. Mol Hum Reprod, 2005 Sep. PMID 16227348
  5. Autosomal dominant inheritance of Williams-Beuren syndrome in a father and son with haploinsufficiency for FKBP6. Metcalfe K, et al. Clin Dysmorphol, 2005 Apr. PMID 15770126

See all (37) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. The piRNA-pathway factor FKBP6 is essential for spermatogenesis but dispensable for control of meiotic LINE-1 expression in humans.
    Title: The piRNA-pathway factor FKBP6 is essential for spermatogenesis but dispensable for control of meiotic LINE-1 expression in humans.
  2. Genome wide DNA methylation assessment approach identified novel biomarkers that differentiate between cervical cancer and normal samples. In the Validation cohort FKBP6 promoter methylation had 73% sensitivity and 80% specificity (AUC = 0.80).
    Title: Genome-wide methylation profiling reveals Zinc finger protein 516 (ZNF516) and FK-506-binding protein 6 (FKBP6) promoters frequently methylated in cervical neoplasia, associated with HPV status and ethnicity in a Chilean population.
  3. 278A polymorphism of FKBP6 gene was associated with idiopathic azoospermia, while C/T, 370G/A, 430G/C, 467T/C, 468G/A polymorphisms might be very rare in Chinese population.
    Title: [Possible association between 278C/A single nucleotide polymorphism of FKBP6 and idiopathic azoospermia].
  4. FKBP36 diminishes GAPDH activity by direct interaction and down-regulation of GAPDH
    Title: FKBP36 is an inherent multifunctional glyceraldehyde-3-phosphate dehydrogenase inhibitor.
  5. clathrin-FKBP36-Hsp72 complexes resulting from both identified interactions are bound to the matrices of clathrin-coated vesicles in spermatocytes, which indicates a possible role of FKBP36 and Hsp72 in the disassembly of clathrin coats
    Title: FKBP36 forms complexes with clathrin and Hsp72 in spermatocytes.
  6. Observational study of gene-disease association. (HuGE Navigator)
    Title: Evaluation of 172 candidate polymorphisms for association with oligozoospermia or azoospermia in a large cohort of men of European descent.
  7. may play a role in modifying the susceptibility to idiopathic spermatogenic impairment in human; allele A of c.216C>A seems to be a protective factor for the development of male infertility
    Title: Mutation screening of the FKBP6 gene and its association study with spermatogenic impairment in idiopathic infertile men.
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

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

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

HIV-1 interactions

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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

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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

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 siRNA-mediated retrotransposon silencing by heterochromatin formation 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
  
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

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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)

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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.

Genomic

  1. NG_023242.2 RefSeqGene

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

mRNA and Protein(s)

  1. NM_001135211.3 → NP_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:159 → 310
    TPR; Tetratricopeptide (TPR) repeat [General function prediction only]
    sd00006
    Location:216 → 242
    TPR; TPR repeat [structural motif]
    pfam00254
    Location:46 → 135
    FKBP_C; FKBP-type peptidyl-prolyl cis-trans isomerase

  2. NM_001281304.2 → NP_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:134 → 285
    TPR; Tetratricopeptide (TPR) repeat [General function prediction only]
    sd00006
    Location:191 → 218
    TPR; TPR repeat [structural motif]
    pfam00254
    Location:62 → 110
    FKBP_C; FKBP-type peptidyl-prolyl cis-trans isomerase

  3. NM_001362789.2 → NP_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:176 → 202
    TPR; TPR repeat [structural motif]
    pfam00254
    Location:46 → 135
    FKBP_C; FKBP-type peptidyl-prolyl cis-trans isomerase

  4. NM_003602.5 → NP_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:164 → 315
    TPR; Tetratricopeptide (TPR) repeat [General function prediction only]
    sd00006
    Location:221 → 247
    TPR; TPR repeat [structural motif]
    pfam00254
    Location:51 → 140
    FKBP_C; FKBP-type peptidyl-prolyl cis-trans isomerase

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_000007.14 Reference GRCh38.p14 Primary Assembly

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

mRNA and Protein(s)

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

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

  3. XM_047420986.1 → XP_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_054359262.1 → XP_054215237.1  inactive peptidyl-prolyl cis-trans isomerase FKBP6 isoform X1

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

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

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O75344.1 GenPept UniProtKB/Swiss-Prot:O75344

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