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

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
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: mouse all
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Genomic context

Location:: 7q11.23

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
110	current	GRCh38.p14 (GCF_000001405.40)	7	NC_000007.14 (73328161..73358625)
110	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_000007.14 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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].
FKBP36 diminishes GAPDH activity by direct interaction and down-regulation of GAPDH
Title: FKBP36 is an inherent multifunctional glyceraldehyde-3-phosphate dehydrogenase inhibitor.
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.
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.
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.

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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

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

GDB:1318639 (e-PCR)
- UniSTS:79386

Fkbp6 (e-PCR), detects polymorphism
- UniSTS:230790

Homology

Homologs of the FKBP6 gene: The FKBP6 gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, zebrafish, fruit fly, mosquito, and frog.
Orthologs from Annotation Pipeline: 315 organisms have orthologs with human gene FKBP6
Orthologs

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	PubMed
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 DNA methylation involved in gamete generation	ISS Inferred from Sequence or Structural Similarity more info
involved_in cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in gene silencing by RNA	ISS Inferred from Sequence or Structural Similarity more info
involved_in meiotic cell cycle	ISS Inferred from Sequence or Structural Similarity more info
involved_in piRNA metabolic process	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in piRNA metabolic process	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 spermatogenesis	IBA Inferred from Biological aspect of Ancestor more info	PubMed
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	PubMed
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

EC 5.2.1.8

NP_001268233.1

EC 5.2.1.8

NP_001349718.1

EC 5.2.1.8

NP_003593.3

EC 5.2.1.8

XP_047276940.1

EC 5.2.1.8

XP_047276941.1

EC 5.2.1.8

XP_047276942.1

EC 5.2.1.8

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

NG_023242.2 RefSeqGene

Range

5006..35470

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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
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

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
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

O75344, 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: Homo sapiens Annotation Release 110 details...

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000007.14 Reference GRCh38.p14 Primary Assembly

Range

73328161..73358625

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047420984.1 → XP_047276940.1 inactive peptidyl-prolyl cis-trans isomerase FKBP6 isoform X1
XM_047420985.1 → XP_047276941.1 inactive peptidyl-prolyl cis-trans isomerase FKBP6 isoform X2
XM_047420986.1 → XP_047276942.1 inactive peptidyl-prolyl cis-trans isomerase FKBP6 isoform X3

Related

ENSP00000497448.1, ENST00000648538.1