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    FKRP fukutin related protein [ Homo sapiens (human) ]

    Gene ID: 79147, updated on 2-Nov-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_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (46744760..46758575)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (49570337..49584398)
    RS_2024_09 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 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?

    Phenotypes

    Associated conditions

    Description Tests
    Autosomal recessive limb-girdle muscular dystrophy type 2I
    MedGen: C1846672 OMIM: 607155 GeneReviews: Not available
    not available
    Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
    MedGen: C4284790 OMIM: 236670 GeneReviews: Not available
    not available
    Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
    MedGen: C3150413 OMIM: 613153 GeneReviews: Not available
    not available
    Muscular dystrophy-dystroglycanopathy type B5
    MedGen: C1847759 OMIM: 606612 GeneReviews: Not available
    not available

    Pathways from PubChem

    Interactions

    General gene information

    Clone Names

    • MGC2991, FLJ12576

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables dystroglycan binding  
    enables identical protein binding PubMed 
    enables laminin binding  
    enables metal ion binding  
    enables phosphotransferase activity, for other substituted phosphate groups PubMed 
    enables protein binding PubMed 
    Items 1 - 25 of 38
    Process Evidence Code Pubs
    involved_in adult walking behavior  
    involved_in basement membrane organization  
    involved_in bone mineralization  
    involved_in brain development  
    involved_in camera-type eye development  
    involved_in connective tissue development  
    involved_in connective tissue replacement  
    involved_in creatine metabolic process  
    involved_in diaphragm development  
    involved_in filtration diaphragm assembly  
    involved_in glial cell differentiation  
    involved_in glycolytic process  
    involved_in heart morphogenesis  
    involved_in in utero embryonic development  
    involved_in inflammatory response  
    involved_in lipid metabolic process  
    involved_in localization of cell  
    involved_in maintenance of protein localization in endoplasmic reticulum  
    involved_in muscle contraction  
    involved_in neuromuscular process  
    involved_in neuron migration  
    involved_in oxygen metabolic process  
    involved_in pentitol metabolic process  
    involved_in pentose metabolic process  
    involved_in phosphatidylinositol 3-kinase/protein kinase B signal transduction  
    involved_in protein O-linked mannosylation  
    involved_in protein O-linked mannosylation PubMed 
    involved_in protein import  
    involved_in protein processing  
    involved_in protein tetramerization PubMed 
    involved_in reelin-mediated signaling pathway  
    involved_in respiratory system process  
    involved_in response to activity  
    involved_in response to alcohol  
    involved_in response to glucocorticoid  
    involved_in response to xenobiotic stimulus  
    involved_in skeletal muscle fiber differentiation  
    involved_in skeletal muscle tissue regeneration  
    Items 1 - 25 of 38
    Component Evidence Code Pubs
    is_active_in Golgi apparatus  
    located_in Golgi apparatus PubMed 
    located_in Golgi membrane PubMed 
    located_in cytosol  
    located_in extracellular space PubMed 
    located_in nucleoplasm  
    located_in rough endoplasmic reticulum PubMed 
    located_in sarcolemma  
    located_in skeletal muscle myofibril  

    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_2024_08

    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
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