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FKBP8 FKBP prolyl isomerase 8 [ Homo sapiens (human) ]

Gene ID: 23770, updated on 4-Nov-2018

Summary

Official Symbol
FKBP8provided by HGNC
Official Full Name
FKBP prolyl isomerase 8provided by HGNC
Primary source
HGNC:HGNC:3724
See related
Ensembl:ENSG00000105701 MIM:604840; Vega:OTTHUMG00000183368
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
FKBP38; FKBPr38
Summary
The protein encoded by this gene is a member of the immunophilin protein family, which play a role in immunoregulation and basic cellular processes involving protein folding and trafficking. Unlike the other members of the family, this encoded protein does not seem to have PPIase/rotamase activity. It may have a role in neurons associated with memory function. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in testis (RPKM 106.8), brain (RPKM 101.5) and 25 other tissues See more
Orthologs

Genomic context

See FKBP8 in Genome Data Viewer
Location:
19p13.11
Exon count:
11
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 19 NC_000019.10 (18531752..18544077, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (18642568..18654887, complement)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene single stranded DNA binding protein 4 Neighboring gene inositol-3-phosphate synthase 1 Neighboring gene elongation factor for RNA polymerase II Neighboring gene KxDL motif containing 1 Neighboring gene ubiquitin A-52 residue ribosomal protein fusion product 1 Neighboring gene required for excision 1-B domain containing

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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
disordered domain specific binding IPI
Inferred from Physical Interaction
more info
PubMed 
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
peptidyl-prolyl cis-trans isomerase activity IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
apoptotic process IEA
Inferred from Electronic Annotation
more info
 
camera-type eye development IEA
Inferred from Electronic Annotation
more info
 
cell fate specification IEA
Inferred from Electronic Annotation
more info
 
dorsal/ventral neural tube patterning IEA
Inferred from Electronic Annotation
more info
 
intracellular signal transduction TAS
Traceable Author Statement
more info
PubMed 
multicellular organism growth IEA
Inferred from Electronic Annotation
more info
 
negative regulation of apoptotic process IEA
Inferred from Electronic Annotation
more info
 
negative regulation of protein phosphorylation IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of BMP signaling pathway IEA
Inferred from Electronic Annotation
more info
 
protein peptidyl-prolyl isomerization IEA
Inferred from Electronic Annotation
more info
 
smoothened signaling pathway IEA
Inferred from Electronic Annotation
more info
 
viral process IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytosol IDA
Inferred from Direct Assay
more info
 
endoplasmic reticulum IDA
Inferred from Direct Assay
more info
 
integral component of endoplasmic reticulum membrane IEA
Inferred from Electronic Annotation
more info
 
membrane HDA PubMed 
mitochondrial membrane IEA
Inferred from Electronic Annotation
more info
 
mitochondrion IDA
Inferred from Direct Assay
more info
 
protein-containing complex IMP
Inferred from Mutant Phenotype
more info
PubMed 

General protein information

Preferred Names
peptidyl-prolyl cis-trans isomerase FKBP8
Names
38 kDa FK506-binding protein
38 kDa FKBP
FK506 binding protein 8, 38kDa
FK506-binding protein 8
FKBP-38
FKBP-8
PPIase FKBP8
hFKBP38
rotamase
NP_001295302.1
NP_036313.3
XP_011526165.1
XP_011526166.1
XP_024307207.1
XP_024307208.1
XP_024307209.1
XP_024307210.1
XP_024307211.1
XP_024307212.1

NCBI Reference Sequences (RefSeq)

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_001308373.1NP_001295302.1  peptidyl-prolyl cis-trans isomerase FKBP8 isoform 2

    See identical proteins and their annotated locations for NP_001295302.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate splice site at an internal exon compared to variant 1. It encodes isoform 2, which is shorter than isoform 1.
    Source sequence(s)
    AK313363, AY278607, BU752982, DB471984
    Consensus CDS
    CCDS77266.1
    UniProtKB/Swiss-Prot
    Q14318
    UniProtKB/TrEMBL
    A0A024R7P2, B2R8G6
    Related
    ENSP00000222308.4, OTTHUMP00000273943, ENST00000222308.8, OTTHUMT00000471688
    Conserved Domains (3) summary
    COG0457
    Location:215338
    TPR; Tetratricopeptide (TPR) repeat [General function prediction only]
    sd00006
    Location:230266
    TPR; TPR repeat [structural motif]
    pfam00254
    Location:113201
    FKBP_C; FKBP-type peptidyl-prolyl cis-trans isomerase
  2. NM_012181.4NP_036313.3  peptidyl-prolyl cis-trans isomerase FKBP8 isoform 1

    See identical proteins and their annotated locations for NP_036313.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    BC009966, BU752982, BX538124, DB471984
    Consensus CDS
    CCDS32961.1
    UniProtKB/Swiss-Prot
    Q14318
    Related
    ENSP00000476767.1, OTTHUMP00000273914, ENST00000608443.5, OTTHUMT00000471638
    Conserved Domains (4) summary
    smart00028
    Location:307340
    TPR; Tetratricopeptide repeats
    sd00006
    Location:231267
    TPR; TPR repeat [structural motif]
    pfam00254
    Location:113202
    FKBP_C; FKBP-type peptidyl-prolyl cis-trans isomerase
    pfam13414
    Location:274338
    TPR_11; TPR repeat

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p12 Primary Assembly

    Range
    18531752..18544077 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024451441.1XP_024307209.1  peptidyl-prolyl cis-trans isomerase FKBP8 isoform X4

    Conserved Domains (3) summary
    COG0457
    Location:215338
    TPR; Tetratricopeptide (TPR) repeat [General function prediction only]
    sd00006
    Location:230266
    TPR; TPR repeat [structural motif]
    pfam00254
    Location:113201
    FKBP_C; FKBP-type peptidyl-prolyl cis-trans isomerase
  2. XM_011527863.1XP_011526165.1  peptidyl-prolyl cis-trans isomerase FKBP8 isoform X3

    See identical proteins and their annotated locations for XP_011526165.1

    UniProtKB/Swiss-Prot
    Q14318
    Conserved Domains (4) summary
    smart00028
    Location:307340
    TPR; Tetratricopeptide repeats
    sd00006
    Location:231267
    TPR; TPR repeat [structural motif]
    pfam00254
    Location:113202
    FKBP_C; FKBP-type peptidyl-prolyl cis-trans isomerase
    pfam13414
    Location:274338
    TPR_11; TPR repeat
  3. XM_024451444.1XP_024307212.1  peptidyl-prolyl cis-trans isomerase FKBP8 isoform X8

    Conserved Domains (3) summary
    COG0457
    Location:215338
    TPR; Tetratricopeptide (TPR) repeat [General function prediction only]
    sd00006
    Location:230266
    TPR; TPR repeat [structural motif]
    pfam00254
    Location:113201
    FKBP_C; FKBP-type peptidyl-prolyl cis-trans isomerase
  4. XM_011527864.2XP_011526166.1  peptidyl-prolyl cis-trans isomerase FKBP8 isoform X7

    Conserved Domains (4) summary
    smart00028
    Location:307340
    TPR; Tetratricopeptide repeats
    sd00006
    Location:231267
    TPR; TPR repeat [structural motif]
    pfam00254
    Location:113202
    FKBP_C; FKBP-type peptidyl-prolyl cis-trans isomerase
    pfam13414
    Location:274338
    TPR_11; TPR repeat
  5. XM_024451439.1XP_024307207.1  peptidyl-prolyl cis-trans isomerase FKBP8 isoform X1

    Conserved Domains (3) summary
    COG0457
    Location:245368
    TPR; Tetratricopeptide (TPR) repeat [General function prediction only]
    sd00006
    Location:260296
    TPR; TPR repeat [structural motif]
    pfam00254
    Location:142231
    FKBP_C; FKBP-type peptidyl-prolyl cis-trans isomerase
  6. XM_024451440.1XP_024307208.1  peptidyl-prolyl cis-trans isomerase FKBP8 isoform X2

    Conserved Domains (3) summary
    COG0457
    Location:244367
    TPR; Tetratricopeptide (TPR) repeat [General function prediction only]
    sd00006
    Location:259295
    TPR; TPR repeat [structural motif]
    pfam00254
    Location:142230
    FKBP_C; FKBP-type peptidyl-prolyl cis-trans isomerase
  7. XM_024451443.1XP_024307211.1  peptidyl-prolyl cis-trans isomerase FKBP8 isoform X6

    Conserved Domains (3) summary
    COG0457
    Location:244367
    TPR; Tetratricopeptide (TPR) repeat [General function prediction only]
    sd00006
    Location:259295
    TPR; TPR repeat [structural motif]
    pfam00254
    Location:142230
    FKBP_C; FKBP-type peptidyl-prolyl cis-trans isomerase
  8. XM_024451442.1XP_024307210.1  peptidyl-prolyl cis-trans isomerase FKBP8 isoform X5

    Conserved Domains (3) summary
    COG0457
    Location:245368
    TPR; Tetratricopeptide (TPR) repeat [General function prediction only]
    sd00006
    Location:260296
    TPR; TPR repeat [structural motif]
    pfam00254
    Location:142231
    FKBP_C; FKBP-type peptidyl-prolyl cis-trans isomerase
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