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FKRP fukutin related protein [ Homo sapiens (human) ]

Gene ID: 79147, updated on 17-May-2023

Summary

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Official Symbol
FKRPprovided by HGNC
Official Full Name
fukutin related proteinprovided by HGNC
Primary source
HGNC:HGNC:17997
See related
Ensembl:ENSG00000181027 MIM:606596; AllianceGenome:HGNC:17997
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
FKTR; MDC1C; LGMD2I; LGMDR9; MDDGA5; MDDGB5; MDDGC5
Summary
This gene encodes a protein which is targeted to the medial Golgi apparatus and is necessary for posttranslational modification of dystroglycan. Mutations in this gene have been associated with congenital muscular dystrophy, cognitive disability, and cerebellar cysts. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Oct 2008]
Expression
Ubiquitous expression in placenta (RPKM 3.9), kidney (RPKM 3.4) and 25 other tissues See more
Orthologs
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Genomic context

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See FKRP in Genome Data Viewer
Location:
19q13.32
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2023_03 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (46744760..46758575)
RS_2023_03 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (49570337..49584398)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (47249314..47261832)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene striatin 4 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:47231865-47232408 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr19:47233845-47235044 Neighboring gene Sharpr-MPRA regulatory region 2893 Neighboring gene solute carrier family 1 member 5 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr19:47287225-47288424

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. Defective autophagy and increased apoptosis contribute toward the pathogenesis of FKRP-associated muscular dystrophies. Ortiz-Cordero C, et al. Stem Cell Reports, 2021 Nov 9. PMID 34653404, Free PMC Article
  2. FKRP mutations cause congenital muscular dystrophy 1C and limb-girdle muscular dystrophy 2I in Asian patients. Awano H, et al. J Clin Neurosci, 2021 Oct. PMID 34509255
  3. [Limb-Girdle Muscular Dystrophy type R9 linked to the FKRP gene: state of the art and therapeutic perspectives]. Villar Quiles RN, et al. Med Sci (Paris), 2020 Dec. PMID 33427633
  4. Fukutin-Related Protein: From Pathology to Treatments. Ortiz-Cordero C, et al. Trends Cell Biol, 2021 Mar. PMID 33272829, Free PMC Article
  5. Cardiomyopathy in limb girdle muscular dystrophy R9, FKRP related. Libell EM, et al. Muscle Nerve, 2020 Nov. PMID 32914449, Free PMC Article

See all (86) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Defective autophagy and increased apoptosis contribute toward the pathogenesis of FKRP-associated muscular dystrophies.
    Title: Defective autophagy and increased apoptosis contribute toward the pathogenesis of FKRP-associated muscular dystrophies.
  2. Fukutin-Related Protein: From Pathology to Treatments.
    Title: Fukutin-Related Protein: From Pathology to Treatments.
  3. FKRP mutations cause congenital muscular dystrophy 1C and limb-girdle muscular dystrophy 2I in Asian patients.
    Title: FKRP mutations cause congenital muscular dystrophy 1C and limb-girdle muscular dystrophy 2I in Asian patients.
  4. [Limb-Girdle Muscular Dystrophy type R9 linked to the FKRP gene: state of the art and therapeutic perspectives].", trans "La dystrophie musculaire des ceintures de type R9 liee au gene FKRP - Etat des lieux et perspectives therapeutiques.
    Title: [Limb-Girdle Muscular Dystrophy type R9 linked to the FKRP gene: state of the art and therapeutic perspectives].
  5. The first report of two homozygous sequence variants in FKRP and SELENON genes associated with syndromic congenital muscular dystrophy in Iran: Further expansion of the clinical phenotypes.
    Title: The first report of two homozygous sequence variants in FKRP and SELENON genes associated with syndromic congenital muscular dystrophy in Iran: Further expansion of the clinical phenotypes.
  6. FKRP-dependent glycosylation of fibronectin regulates muscle pathology in muscular dystrophy.
    Title: FKRP-dependent glycosylation of fibronectin regulates muscle pathology in muscular dystrophy.
  7. Phenotypic Spectrum of alpha-Dystroglycanopathies Associated With the c.919T>a Variant in the FKRP Gene in Humans and Mice.
    Title: Phenotypic Spectrum of α-Dystroglycanopathies Associated With the c.919T>a Variant in the FKRP Gene in Humans and Mice.
  8. Global FKRP Registry: observations in more than 300 patients with Limb Girdle Muscular Dystrophy R9.
    Title: Global FKRP Registry: observations in more than 300 patients with Limb Girdle Muscular Dystrophy R9.
  9. Cardiomyopathy in limb girdle muscular dystrophy R9, FKRP related.
    Title: Cardiomyopathy in limb girdle muscular dystrophy R9, FKRP related.
  10. Motor outcome measures in patients with FKRP mutations: A longitudinal follow-up.
    Title: Motor outcome measures in patients with FKRP mutations: A longitudinal follow-up.
Submit: New GeneRIF Correction See all GeneRIFs (58)

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

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

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

  • MGC2991, FLJ12576

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables dystroglycan binding IEA
Inferred from Electronic Annotation
more info
  
enables identical protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
enables phosphotransferase activity, for other substituted phosphate groups IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in protein O-linked mannosylation IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
involved_in protein O-linked mannosylation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in protein processing IEA
Inferred from Electronic Annotation
more info
  
involved_in protein tetramerization IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
is_active_in Golgi apparatus IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
located_in Golgi apparatus IDA
Inferred from Direct Assay
more info
 PubMed 
located_in Golgi membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytosol IDA
Inferred from Direct Assay
more info
  
located_in extracellular space IDA
Inferred from Direct Assay
more info
 PubMed 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  
located_in rough endoplasmic reticulum IDA
Inferred from Direct Assay
more info
 PubMed 
located_in sarcolemma IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
ribitol 5-phosphate transferase FKRP
Names
ribitol-5-phosphate transferase

NCBI Reference Sequences (RefSeq)

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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_008898.2 RefSeqGene

    Range
    5012..17530
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_761

mRNA and Protein(s)

  1. NM_001039885.3 → NP_001034974.1  ribitol 5-phosphate transferase FKRP

    See identical proteins and their annotated locations for NP_001034974.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) represents the longest transcript. Variants 1 and 2 encode the same protein.
    Source sequence(s)
    AK095497, AW504292, CX866271, DA123579
    Consensus CDS
    CCDS12691.1
    UniProtKB/Swiss-Prot
    A8K5G7, Q9H9S5
    UniProtKB/TrEMBL
    A0A024R0R7
    Related
    ENSP00000375776.2, ENST00000391909.7
    Conserved Domains (2) summary
    cl01378
    Location:334 → 371
    LicD; LicD family
    cl10030
    Location:67 → 161
    MECDP_synthase; MECDP_synthase (2-C-methyl-D-erythritol-2,4-cyclodiphosphate synthase), encoded by the ispF gene, catalyzes the formation of 2-C-methyl-D-erythritol 2,4-cyclodiphosphate (MEC) in the non-mevalonate deoxyxylulose (DOXP) pathway for isoprenoid biosynthesis. ...

  2. NM_024301.5 → NP_077277.1  ribitol 5-phosphate transferase FKRP

    See identical proteins and their annotated locations for NP_077277.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) differs in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same protein.
    Source sequence(s)
    AK022638, AW504292, CX866271, DA123579
    Consensus CDS
    CCDS12691.1
    UniProtKB/Swiss-Prot
    A8K5G7, Q9H9S5
    UniProtKB/TrEMBL
    A0A024R0R7
    Related
    ENSP00000326570.4, ENST00000318584.10
    Conserved Domains (2) summary
    cl01378
    Location:334 → 371
    LicD; LicD family
    cl10030
    Location:67 → 161
    MECDP_synthase; MECDP_synthase (2-C-methyl-D-erythritol-2,4-cyclodiphosphate synthase), encoded by the ispF gene, catalyzes the formation of 2-C-methyl-D-erythritol 2,4-cyclodiphosphate (MEC) in the non-mevalonate deoxyxylulose (DOXP) pathway for isoprenoid biosynthesis. ...

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_03

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

    Range
    46744760..46758575
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047439426.1 → XP_047295382.1  ribitol 5-phosphate transferase FKRP isoform X1

    UniProtKB/Swiss-Prot
    A8K5G7
    UniProtKB/TrEMBL
    A0A024R0R7

  2. XM_047439422.1 → XP_047295378.1  ribitol 5-phosphate transferase FKRP isoform X1

    UniProtKB/Swiss-Prot
    A8K5G7
    UniProtKB/TrEMBL
    A0A024R0R7

  3. XM_005259247.3 → XP_005259304.1  ribitol 5-phosphate transferase FKRP isoform X1

    See identical proteins and their annotated locations for XP_005259304.1

    UniProtKB/Swiss-Prot
    A8K5G7, Q9H9S5
    UniProtKB/TrEMBL
    A0A024R0R7
    Conserved Domains (2) summary
    cl01378
    Location:334 → 371
    LicD; LicD family
    cl10030
    Location:67 → 161
    MECDP_synthase; MECDP_synthase (2-C-methyl-D-erythritol-2,4-cyclodiphosphate synthase), encoded by the ispF gene, catalyzes the formation of 2-C-methyl-D-erythritol 2,4-cyclodiphosphate (MEC) in the non-mevalonate deoxyxylulose (DOXP) pathway for isoprenoid biosynthesis. ...

  4. XM_005259248.3 → XP_005259305.1  ribitol 5-phosphate transferase FKRP isoform X1

    See identical proteins and their annotated locations for XP_005259305.1

    UniProtKB/Swiss-Prot
    A8K5G7, Q9H9S5
    UniProtKB/TrEMBL
    A0A024R0R7
    Conserved Domains (2) summary
    cl01378
    Location:334 → 371
    LicD; LicD family
    cl10030
    Location:67 → 161
    MECDP_synthase; MECDP_synthase (2-C-methyl-D-erythritol-2,4-cyclodiphosphate synthase), encoded by the ispF gene, catalyzes the formation of 2-C-methyl-D-erythritol 2,4-cyclodiphosphate (MEC) in the non-mevalonate deoxyxylulose (DOXP) pathway for isoprenoid biosynthesis. ...

  5. XM_024451707.2 → XP_024307475.1  ribitol 5-phosphate transferase FKRP isoform X1

    UniProtKB/Swiss-Prot
    A8K5G7
    UniProtKB/TrEMBL
    A0A024R0R7
    Conserved Domains (2) summary
    cl01378
    Location:334 → 371
    LicD; LicD family
    cl10030
    Location:67 → 161
    MECDP_synthase; MECDP_synthase (2-C-methyl-D-erythritol-2,4-cyclodiphosphate synthase), encoded by the ispF gene, catalyzes the formation of 2-C-methyl-D-erythritol 2,4-cyclodiphosphate (MEC) in the non-mevalonate deoxyxylulose (DOXP) pathway for isoprenoid biosynthesis. ...

  6. XM_047439423.1 → XP_047295379.1  ribitol 5-phosphate transferase FKRP isoform X1

    UniProtKB/Swiss-Prot
    A8K5G7
    UniProtKB/TrEMBL
    A0A024R0R7

  7. XM_005259249.5 → XP_005259306.1  ribitol 5-phosphate transferase FKRP isoform X1

    See identical proteins and their annotated locations for XP_005259306.1

    UniProtKB/Swiss-Prot
    A8K5G7, Q9H9S5
    UniProtKB/TrEMBL
    A0A024R0R7
    Conserved Domains (2) summary
    cl01378
    Location:334 → 371
    LicD; LicD family
    cl10030
    Location:67 → 161
    MECDP_synthase; MECDP_synthase (2-C-methyl-D-erythritol-2,4-cyclodiphosphate synthase), encoded by the ispF gene, catalyzes the formation of 2-C-methyl-D-erythritol 2,4-cyclodiphosphate (MEC) in the non-mevalonate deoxyxylulose (DOXP) pathway for isoprenoid biosynthesis. ...

  8. XM_011527307.2 → XP_011525609.1  ribitol 5-phosphate transferase FKRP isoform X1

    See identical proteins and their annotated locations for XP_011525609.1

    UniProtKB/Swiss-Prot
    A8K5G7, Q9H9S5
    UniProtKB/TrEMBL
    A0A024R0R7
    Conserved Domains (2) summary
    cl01378
    Location:334 → 371
    LicD; LicD family
    cl10030
    Location:67 → 161
    MECDP_synthase; MECDP_synthase (2-C-methyl-D-erythritol-2,4-cyclodiphosphate synthase), encoded by the ispF gene, catalyzes the formation of 2-C-methyl-D-erythritol 2,4-cyclodiphosphate (MEC) in the non-mevalonate deoxyxylulose (DOXP) pathway for isoprenoid biosynthesis. ...

  9. XM_017027297.3 → XP_016882786.1  ribitol 5-phosphate transferase FKRP isoform X1

    UniProtKB/Swiss-Prot
    A8K5G7, Q9H9S5
    UniProtKB/TrEMBL
    A0A024R0R7
    Conserved Domains (2) summary
    cl01378
    Location:334 → 371
    LicD; LicD family
    cl10030
    Location:67 → 161
    MECDP_synthase; MECDP_synthase (2-C-methyl-D-erythritol-2,4-cyclodiphosphate synthase), encoded by the ispF gene, catalyzes the formation of 2-C-methyl-D-erythritol 2,4-cyclodiphosphate (MEC) in the non-mevalonate deoxyxylulose (DOXP) pathway for isoprenoid biosynthesis. ...

  10. XM_011527306.3 → XP_011525608.1  ribitol 5-phosphate transferase FKRP isoform X1

    See identical proteins and their annotated locations for XP_011525608.1

    UniProtKB/Swiss-Prot
    A8K5G7, Q9H9S5
    UniProtKB/TrEMBL
    A0A024R0R7
    Conserved Domains (2) summary
    cl01378
    Location:334 → 371
    LicD; LicD family
    cl10030
    Location:67 → 161
    MECDP_synthase; MECDP_synthase (2-C-methyl-D-erythritol-2,4-cyclodiphosphate synthase), encoded by the ispF gene, catalyzes the formation of 2-C-methyl-D-erythritol 2,4-cyclodiphosphate (MEC) in the non-mevalonate deoxyxylulose (DOXP) pathway for isoprenoid biosynthesis. ...

  11. XM_047439428.1 → XP_047295384.1  ribitol 5-phosphate transferase FKRP isoform X1

    UniProtKB/Swiss-Prot
    A8K5G7
    UniProtKB/TrEMBL
    A0A024R0R7

  12. XM_047439429.1 → XP_047295385.1  ribitol 5-phosphate transferase FKRP isoform X1

    UniProtKB/Swiss-Prot
    A8K5G7
    UniProtKB/TrEMBL
    A0A024R0R7

  13. XM_047439427.1 → XP_047295383.1  ribitol 5-phosphate transferase FKRP isoform X1

    UniProtKB/Swiss-Prot
    A8K5G7
    UniProtKB/TrEMBL
    A0A024R0R7

  14. XM_047439424.1 → XP_047295380.1  ribitol 5-phosphate transferase FKRP isoform X1

    UniProtKB/Swiss-Prot
    A8K5G7
    UniProtKB/TrEMBL
    A0A024R0R7

  15. XM_047439425.1 → XP_047295381.1  ribitol 5-phosphate transferase FKRP isoform X1

    UniProtKB/Swiss-Prot
    A8K5G7
    UniProtKB/TrEMBL
    A0A024R0R7

  16. XM_047439421.1 → XP_047295377.1  ribitol 5-phosphate transferase FKRP isoform X1

    UniProtKB/Swiss-Prot
    A8K5G7
    UniProtKB/TrEMBL
    A0A024R0R7

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060943.1 Alternate T2T-CHM13v2.0

    Range
    49570337..49584398
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054322127.1 → XP_054178102.1  ribitol 5-phosphate transferase FKRP isoform X1

    UniProtKB/Swiss-Prot
    A8K5G7
    UniProtKB/TrEMBL
    A0A024R0R7

  2. XM_054322120.1 → XP_054178095.1  ribitol 5-phosphate transferase FKRP isoform X1

    UniProtKB/Swiss-Prot
    A8K5G7
    UniProtKB/TrEMBL
    A0A024R0R7

  3. XM_054322122.1 → XP_054178097.1  ribitol 5-phosphate transferase FKRP isoform X1

    UniProtKB/Swiss-Prot
    A8K5G7
    UniProtKB/TrEMBL
    A0A024R0R7

  4. XM_054322121.1 → XP_054178096.1  ribitol 5-phosphate transferase FKRP isoform X1

    UniProtKB/Swiss-Prot
    A8K5G7
    UniProtKB/TrEMBL
    A0A024R0R7

  5. XM_054322130.1 → XP_054178105.1  ribitol 5-phosphate transferase FKRP isoform X1

    UniProtKB/Swiss-Prot
    A8K5G7
    UniProtKB/TrEMBL
    A0A024R0R7

  6. XM_054322124.1 → XP_054178099.1  ribitol 5-phosphate transferase FKRP isoform X1

    UniProtKB/Swiss-Prot
    A8K5G7
    UniProtKB/TrEMBL
    A0A024R0R7

  7. XM_054322123.1 → XP_054178098.1  ribitol 5-phosphate transferase FKRP isoform X1

    UniProtKB/Swiss-Prot
    A8K5G7
    UniProtKB/TrEMBL
    A0A024R0R7

  8. XM_054322131.1 → XP_054178106.1  ribitol 5-phosphate transferase FKRP isoform X1

    UniProtKB/Swiss-Prot
    A8K5G7
    UniProtKB/TrEMBL
    A0A024R0R7

  9. XM_054322119.1 → XP_054178094.1  ribitol 5-phosphate transferase FKRP isoform X1

    UniProtKB/Swiss-Prot
    A8K5G7
    UniProtKB/TrEMBL
    A0A024R0R7

  10. XM_054322132.1 → XP_054178107.1  ribitol 5-phosphate transferase FKRP isoform X1

    UniProtKB/Swiss-Prot
    A8K5G7
    UniProtKB/TrEMBL
    A0A024R0R7

  11. XM_054322129.1 → XP_054178104.1  ribitol 5-phosphate transferase FKRP isoform X1

    UniProtKB/Swiss-Prot
    A8K5G7
    UniProtKB/TrEMBL
    A0A024R0R7

  12. XM_054322133.1 → XP_054178108.1  ribitol 5-phosphate transferase FKRP isoform X1

    UniProtKB/Swiss-Prot
    A8K5G7
    UniProtKB/TrEMBL
    A0A024R0R7

  13. XM_054322128.1 → XP_054178103.1  ribitol 5-phosphate transferase FKRP isoform X1

    UniProtKB/Swiss-Prot
    A8K5G7
    UniProtKB/TrEMBL
    A0A024R0R7

  14. XM_054322125.1 → XP_054178100.1  ribitol 5-phosphate transferase FKRP isoform X1

    UniProtKB/Swiss-Prot
    A8K5G7
    UniProtKB/TrEMBL
    A0A024R0R7

  15. XM_054322126.1 → XP_054178101.1  ribitol 5-phosphate transferase FKRP isoform X1

    UniProtKB/Swiss-Prot
    A8K5G7
    UniProtKB/TrEMBL
    A0A024R0R7
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9H9S5.1 GenPept UniProtKB/Swiss-Prot:Q9H9S5

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