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FKRP fukutin related protein [ Homo sapiens (human) ]

Gene ID: 79147, updated on 17-Jun-2024

Summary

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
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

See FKRP in Genome Data Viewer
Location:
19q13.32
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (46744760..46758575)
RS_2023_10 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 protein kinase D2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:47213106-47213924 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10822 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14846 Neighboring gene uncharacterized LOC107987269 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10823 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10824 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14847 Neighboring gene microRNA 320e Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:47228602-47229146 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:47230777-47231320 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:47231865-47232408 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr19:47233845-47235044 Neighboring gene striatin 4 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10825 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10826 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10827 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10828 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10829 Neighboring gene Sharpr-MPRA regulatory region 2893 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr19:47287225-47288424 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:47288509-47289110 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:47289111-47289712 Neighboring gene solute carrier family 1 member 5 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10830 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10831 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:47291519-47292120 Neighboring gene heterogeneous nuclear ribonucleoprotein M pseudogene 2

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 Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

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 laminin binding IEA
Inferred from Electronic Annotation
more info
 
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 adult walking behavior IEA
Inferred from Electronic Annotation
more info
 
involved_in basement membrane organization IEA
Inferred from Electronic Annotation
more info
 
involved_in bone mineralization IEA
Inferred from Electronic Annotation
more info
 
involved_in brain development IEA
Inferred from Electronic Annotation
more info
 
involved_in camera-type eye development IEA
Inferred from Electronic Annotation
more info
 
involved_in connective tissue development IEA
Inferred from Electronic Annotation
more info
 
involved_in connective tissue replacement IEA
Inferred from Electronic Annotation
more info
 
involved_in creatine metabolic process IEA
Inferred from Electronic Annotation
more info
 
involved_in diaphragm development IEA
Inferred from Electronic Annotation
more info
 
involved_in filtration diaphragm assembly IEA
Inferred from Electronic Annotation
more info
 
involved_in glial cell differentiation IEA
Inferred from Electronic Annotation
more info
 
involved_in glycolytic process IEA
Inferred from Electronic Annotation
more info
 
involved_in heart morphogenesis IEA
Inferred from Electronic Annotation
more info
 
involved_in in utero embryonic development IEA
Inferred from Electronic Annotation
more info
 
involved_in inflammatory response IEA
Inferred from Electronic Annotation
more info
 
involved_in lipid metabolic process IEA
Inferred from Electronic Annotation
more info
 
involved_in localization of cell IEA
Inferred from Electronic Annotation
more info
 
involved_in maintenance of protein localization in endoplasmic reticulum IEA
Inferred from Electronic Annotation
more info
 
involved_in muscle contraction IEA
Inferred from Electronic Annotation
more info
 
involved_in neuromuscular process IEA
Inferred from Electronic Annotation
more info
 
involved_in neuron migration IEA
Inferred from Electronic Annotation
more info
 
involved_in oxygen metabolic process IEA
Inferred from Electronic Annotation
more info
 
involved_in pentitol metabolic process IEA
Inferred from Electronic Annotation
more info
 
involved_in pentose metabolic process IEA
Inferred from Electronic Annotation
more info
 
involved_in phosphatidylinositol 3-kinase/protein kinase B signal transduction IEA
Inferred from Electronic Annotation
more info
 
involved_in protein O-linked mannosylation IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in protein O-linked mannosylation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in protein import IEA
Inferred from Electronic Annotation
more info
 
involved_in protein processing IEA
Inferred from Electronic Annotation
more info
 
involved_in protein tetramerization IDA
Inferred from Direct Assay
more info
PubMed 
involved_in reelin-mediated signaling pathway IEA
Inferred from Electronic Annotation
more info
 
involved_in reproductive process IEA
Inferred from Electronic Annotation
more info
 
involved_in respiratory system process IEA
Inferred from Electronic Annotation
more info
 
involved_in response to activity IEA
Inferred from Electronic Annotation
more info
 
involved_in response to alcohol IEA
Inferred from Electronic Annotation
more info
 
involved_in response to glucocorticoid IEA
Inferred from Electronic Annotation
more info
 
involved_in response to xenobiotic stimulus IEA
Inferred from Electronic Annotation
more info
 
involved_in skeletal muscle fiber differentiation IEA
Inferred from Electronic Annotation
more info
 
involved_in skeletal muscle tissue regeneration IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
is_active_in Golgi apparatus IBA
Inferred from Biological aspect of Ancestor
more info
 
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
 
located_in skeletal muscle myofibril IEA
Inferred from Electronic Annotation
more info
 

General protein information

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

NCBI Reference Sequences (RefSeq)

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_001039885.3NP_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
    Related
    ENSP00000375776.2, ENST00000391909.7
    Conserved Domains (2) summary
    cl01378
    Location:334371
    LicD; LicD family
    cl10030
    Location:67161
    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_024301.5NP_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
    Related
    ENSP00000326570.4, ENST00000318584.10
    Conserved Domains (2) summary
    cl01378
    Location:334371
    LicD; LicD family
    cl10030
    Location:67161
    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_10

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_047439426.1XP_047295382.1  ribitol 5-phosphate transferase FKRP isoform X1

    UniProtKB/Swiss-Prot
    A8K5G7, Q9H9S5
  2. XM_047439422.1XP_047295378.1  ribitol 5-phosphate transferase FKRP isoform X1

    UniProtKB/Swiss-Prot
    A8K5G7, Q9H9S5
  3. XM_005259247.3XP_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
    Conserved Domains (2) summary
    cl01378
    Location:334371
    LicD; LicD family
    cl10030
    Location:67161
    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_005259248.3XP_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
    Conserved Domains (2) summary
    cl01378
    Location:334371
    LicD; LicD family
    cl10030
    Location:67161
    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_024451707.2XP_024307475.1  ribitol 5-phosphate transferase FKRP isoform X1

    UniProtKB/Swiss-Prot
    A8K5G7, Q9H9S5
    Conserved Domains (2) summary
    cl01378
    Location:334371
    LicD; LicD family
    cl10030
    Location:67161
    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_047439423.1XP_047295379.1  ribitol 5-phosphate transferase FKRP isoform X1

    UniProtKB/Swiss-Prot
    A8K5G7, Q9H9S5
  7. XM_005259249.5XP_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
    Conserved Domains (2) summary
    cl01378
    Location:334371
    LicD; LicD family
    cl10030
    Location:67161
    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_011527307.2XP_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
    Conserved Domains (2) summary
    cl01378
    Location:334371
    LicD; LicD family
    cl10030
    Location:67161
    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_017027297.3XP_016882786.1  ribitol 5-phosphate transferase FKRP isoform X1

    UniProtKB/Swiss-Prot
    A8K5G7, Q9H9S5
    Conserved Domains (2) summary
    cl01378
    Location:334371
    LicD; LicD family
    cl10030
    Location:67161
    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_011527306.3XP_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
    Conserved Domains (2) summary
    cl01378
    Location:334371
    LicD; LicD family
    cl10030
    Location:67161
    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_047439428.1XP_047295384.1  ribitol 5-phosphate transferase FKRP isoform X1

    UniProtKB/Swiss-Prot
    A8K5G7, Q9H9S5
  12. XM_047439429.1XP_047295385.1  ribitol 5-phosphate transferase FKRP isoform X1

    UniProtKB/Swiss-Prot
    A8K5G7, Q9H9S5
  13. XM_047439427.1XP_047295383.1  ribitol 5-phosphate transferase FKRP isoform X1

    UniProtKB/Swiss-Prot
    A8K5G7, Q9H9S5
  14. XM_047439424.1XP_047295380.1  ribitol 5-phosphate transferase FKRP isoform X1

    UniProtKB/Swiss-Prot
    A8K5G7, Q9H9S5
  15. XM_047439425.1XP_047295381.1  ribitol 5-phosphate transferase FKRP isoform X1

    UniProtKB/Swiss-Prot
    A8K5G7, Q9H9S5
  16. XM_047439421.1XP_047295377.1  ribitol 5-phosphate transferase FKRP isoform X1

    UniProtKB/Swiss-Prot
    A8K5G7, Q9H9S5

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_054322127.1XP_054178102.1  ribitol 5-phosphate transferase FKRP isoform X1

    UniProtKB/Swiss-Prot
    A8K5G7, Q9H9S5
  2. XM_054322120.1XP_054178095.1  ribitol 5-phosphate transferase FKRP isoform X1

    UniProtKB/Swiss-Prot
    A8K5G7, Q9H9S5
  3. XM_054322122.1XP_054178097.1  ribitol 5-phosphate transferase FKRP isoform X1

    UniProtKB/Swiss-Prot
    A8K5G7, Q9H9S5
  4. XM_054322121.1XP_054178096.1  ribitol 5-phosphate transferase FKRP isoform X1

    UniProtKB/Swiss-Prot
    A8K5G7, Q9H9S5
  5. XM_054322130.1XP_054178105.1  ribitol 5-phosphate transferase FKRP isoform X1

    UniProtKB/Swiss-Prot
    A8K5G7, Q9H9S5
  6. XM_054322124.1XP_054178099.1  ribitol 5-phosphate transferase FKRP isoform X1

    UniProtKB/Swiss-Prot
    A8K5G7, Q9H9S5
  7. XM_054322123.1XP_054178098.1  ribitol 5-phosphate transferase FKRP isoform X1

    UniProtKB/Swiss-Prot
    A8K5G7, Q9H9S5
  8. XM_054322131.1XP_054178106.1  ribitol 5-phosphate transferase FKRP isoform X1

    UniProtKB/Swiss-Prot
    A8K5G7, Q9H9S5
  9. XM_054322119.1XP_054178094.1  ribitol 5-phosphate transferase FKRP isoform X1

    UniProtKB/Swiss-Prot
    A8K5G7, Q9H9S5
  10. XM_054322132.1XP_054178107.1  ribitol 5-phosphate transferase FKRP isoform X1

    UniProtKB/Swiss-Prot
    A8K5G7, Q9H9S5
  11. XM_054322129.1XP_054178104.1  ribitol 5-phosphate transferase FKRP isoform X1

    UniProtKB/Swiss-Prot
    A8K5G7, Q9H9S5
  12. XM_054322133.1XP_054178108.1  ribitol 5-phosphate transferase FKRP isoform X1

    UniProtKB/Swiss-Prot
    A8K5G7, Q9H9S5
  13. XM_054322128.1XP_054178103.1  ribitol 5-phosphate transferase FKRP isoform X1

    UniProtKB/Swiss-Prot
    A8K5G7, Q9H9S5
  14. XM_054322125.1XP_054178100.1  ribitol 5-phosphate transferase FKRP isoform X1

    UniProtKB/Swiss-Prot
    A8K5G7, Q9H9S5
  15. XM_054322126.1XP_054178101.1  ribitol 5-phosphate transferase FKRP isoform X1

    UniProtKB/Swiss-Prot
    A8K5G7, Q9H9S5