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FKBP6 FK506 binding protein 6 [ Homo sapiens (human) ]

Gene ID: 8468, updated on 8-May-2016
Official Symbol
FKBP6provided by HGNC
Official Full Name
FK506 binding protein 6provided by HGNC
Primary source
HGNC:HGNC:3722
See related
Ensembl:ENSG00000077800 HPRD:05326; MIM:604839; Vega:OTTHUMG00000150520
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]
Orthologs
Location:
7q11.23
Exon count:
9
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 7 NC_000007.14 (73328152..73358637)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (72742155..72772646)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene GTF2I repeat domain containing 2 pseudogene 1 Neighboring gene POM121 transmembrane nucleoporin B (pseudogene) Neighboring gene NOP2/Sun RNA methyltransferase family member 5 Neighboring gene tripartite motif containing 50 Neighboring gene frizzled class receptor 9 Neighboring gene bromodomain adjacent to zinc finger domain 1B

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

NHGRI GWAS Catalog

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

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

  • Cell Cycle, organism-specific biosystem (from REACTOME)
    Cell Cycle, organism-specific biosystem
    Cell Cycle
  • Gene Expression, organism-specific biosystem (from REACTOME)
    Gene Expression, organism-specific biosystemGene Expression covers the pathways by which genomic DNA is transcribed to yield RNA, the regulation of these transcription processes, and the pathways by which newly-made RNA Transcripts are process...
  • Gene Silencing by RNA, organism-specific biosystem (from REACTOME)
    Gene Silencing by RNA, organism-specific biosystemIn this module, the biology of various types of regulatory non-coding RNAs are described. Currently, biogenesis and functions of small interfering RNAs (siRNAs) and microRNAs are annotated.
  • Meiosis, organism-specific biosystem (from REACTOME)
    Meiosis, organism-specific biosystemDuring meiosis the replicated chromosomes of a single diploid cell are segregated into 4 haploid daughter cells by two successive divisions, meiosis I and meiosis II. In meiosis I, the distinguishing...
  • Meiotic synapsis, organism-specific biosystem (from REACTOME)
    Meiotic synapsis, organism-specific biosystemMeiotic synapsis is the stable physical pairing of homologous chromosomes that begins in leptonema of prophase I and lasts until anaphase of prophase I. First, short segments of axial elements form a...
  • PIWI-interacting RNA (piRNA) biogenesis, organism-specific biosystem (from REACTOME)
    PIWI-interacting RNA (piRNA) biogenesis, organism-specific biosystemIn germ cells of humans and mice, precursors of PIWI-interacting RNAs (piRNAs) are transcribed from a few hundred sequence clusters, as well as individual transposons, intergenic regions, and genes i...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • MGC87179

Gene Ontology Provided by GOA

Function Evidence Code Pubs
FK506 binding IEA
Inferred from Electronic Annotation
more info
 
Hsp90 protein binding ISS
Inferred from Sequence or Structural Similarity
more info
 
peptidyl-prolyl cis-trans isomerase activity IBA
Inferred from Biological aspect of Ancestor
more info
 
NOT peptidyl-prolyl cis-trans isomerase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
DNA methylation involved in gamete generation ISS
Inferred from Sequence or Structural Similarity
more info
 
cell differentiation IEA
Inferred from Electronic Annotation
more info
 
chaperone-mediated protein folding IBA
Inferred from Biological aspect of Ancestor
more info
 
gene silencing by RNA ISS
Inferred from Sequence or Structural Similarity
more info
 
meiotic nuclear division ISS
Inferred from Sequence or Structural Similarity
more info
 
piRNA metabolic process ISS
Inferred from Sequence or Structural Similarity
more info
 
protein folding ISS
Inferred from Sequence or Structural Similarity
more info
 
protein peptidyl-prolyl isomerization IEA
Inferred from Electronic Annotation
more info
 
spermatogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
cytoplasm ISS
Inferred from Sequence or Structural Similarity
more info
 
cytosol ISS
Inferred from Sequence or Structural Similarity
more info
 
endoplasmic reticulum membrane IBA
Inferred from Biological aspect of Ancestor
more info
 
synaptonemal complex ISS
Inferred from Sequence or Structural Similarity
more info
 
Preferred Names
inactive peptidyl-prolyl cis-trans isomerase FKBP6
Names
36 kDa FKBP
FK506 binding protein 6, 36kDa
PPIase FKBP6
immunophilin FKBP36
inactive PPIase FKBP6
peptidyl-prolyl cis-trans isomerase FKBP6
rotamase
NP_001128683.1
NP_001268233.1
NP_003593.3

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
    4997..35482
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001135211.2NP_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, OTTHUMP00000210647, ENST00000431982, OTTHUMT00000345909
    Conserved Domains (3) summary
    COG0457
    Location:159310
    TPR; Tetratricopeptide (TPR) repeat [General function prediction only]
    pfam00254
    Location:46135
    FKBP_C; FKBP-type peptidyl-prolyl cis-trans isomerase
    sd00006
    Location:216242
    TPR; TPR repeat [structural motif]
  2. NM_001281304.1NP_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, OTTHUMP00000210648, ENST00000413573, OTTHUMT00000345910
    Conserved Domains (3) summary
    COG0457
    Location:134285
    TPR; Tetratricopeptide (TPR) repeat [General function prediction only]
    pfam00254
    Location:62110
    FKBP_C; FKBP-type peptidyl-prolyl cis-trans isomerase
    sd00006
    Location:191218
    TPR; TPR repeat [structural motif]
  3. NM_003602.4NP_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)
    AA909474, AC211540, BC036817, DB450796
    Consensus CDS
    CCDS43595.1
    UniProtKB/Swiss-Prot
    O75344
    Related
    ENSP00000252037, OTTHUMP00000197725, ENST00000252037, OTTHUMT00000318723
    Conserved Domains (3) summary
    COG0457
    Location:164315
    TPR; Tetratricopeptide (TPR) repeat [General function prediction only]
    pfam00254
    Location:51140
    FKBP_C; FKBP-type peptidyl-prolyl cis-trans isomerase
    sd00006
    Location:221247
    TPR; TPR repeat [structural motif]

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p2 Primary Assembly

    Range
    73328152..73358637
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006716153.1XP_006716216.1  

    Related
    ENSP00000402360, OTTHUMP00000210651, ENST00000442793, OTTHUMT00000345913
    Conserved Domains (2) summary
    pfam00254
    Location:46135
    FKBP_C; FKBP-type peptidyl-prolyl cis-trans isomerase
    sd00006
    Location:176202
    TPR; TPR repeat [structural motif]
  2. XM_006716152.2XP_006716215.1  

    Conserved Domains (2) summary
    pfam00254
    Location:51140
    FKBP_C; FKBP-type peptidyl-prolyl cis-trans isomerase
    sd00006
    Location:215243
    TPR; TPR repeat [structural motif]
  3. XM_005250643.3XP_005250700.1  

    Conserved Domains (2) summary
    pfam00254
    Location:51140
    FKBP_C; FKBP-type peptidyl-prolyl cis-trans isomerase
    sd00006
    Location:181207
    TPR; TPR repeat [structural motif]
  4. XM_011516644.1XP_011514946.1  

    Conserved Domains (2) summary
    pfam00254
    Location:51140
    FKBP_C; FKBP-type peptidyl-prolyl cis-trans isomerase
    sd00006
    Location:220248
    TPR; TPR repeat [structural motif]

Alternate CHM1_1.1

Genomic

  1. NC_018918.2 Alternate CHM1_1.1

    Range
    72888174..72918659
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)