FKRP fukutin related protein [Homo sapiens (human)] - Gene

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: mouse all
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Genomic context

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_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Break Down of the Complexity and Inconsistency Between Levels of Matriglycan and Disease Phenotype in FKRP-Related Dystroglycanopathies: A Review and Model of Interpretation.
Title: Break Down of the Complexity and Inconsistency Between Levels of Matriglycan and Disease Phenotype in FKRP-Related Dystroglycanopathies: A Review and Model of Interpretation.
Health-Related Quality of Life in FKRP-Related Limb-Girdle Muscular Dystrophy R9.
Title: Health-Related Quality of Life in FKRP-Related Limb-Girdle Muscular Dystrophy R9.
Insomnia and sleep-disordered breathing in FKRP-related limb-girdle muscular dystrophy R9. The Norwegian LGMDR9 cohort study (2020).
Title: Insomnia and sleep-disordered breathing in FKRP-related limb-girdle muscular dystrophy R9. The Norwegian LGMDR9 cohort study (2020).
Phenotype Genotype Characterization of FKRP-related Muscular Dystrophy among Indian Patients.
Title: Phenotype Genotype Characterization of FKRP-related Muscular Dystrophy among Indian Patients.
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.
Fukutin-Related Protein: From Pathology to Treatments.
Title: Fukutin-Related Protein: From Pathology to Treatments.
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.
[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].
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.
FKRP-dependent glycosylation of fibronectin regulates muscle pathology in muscular dystrophy.
Title: FKRP-dependent glycosylation of fibronectin regulates muscle pathology in muscular dystrophy.

Submit: New GeneRIF Correction See all GeneRIFs (62)

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

Associated conditions

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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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 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

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Preferred Names: ribitol 5-phosphate transferase FKRP

Names: ribitol-5-phosphate transferase

NCBI Reference Sequences (RefSeq)

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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

NG_008898.2 RefSeqGene

Range

5012..17530

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_761

mRNA and Protein(s)

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

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. ...
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

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_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000019.10 Reference GRCh38.p14 Primary Assembly

Range

46744760..46758575

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/Swiss-Prot

A8K5G7, Q9H9S5
XM_047439422.1 → XP_047295378.1 ribitol 5-phosphate transferase FKRP isoform X1

UniProtKB/Swiss-Prot

A8K5G7, Q9H9S5
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

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. ...
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

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

UniProtKB/Swiss-Prot

A8K5G7, Q9H9S5

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

UniProtKB/Swiss-Prot

A8K5G7, Q9H9S5
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

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. ...
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

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

UniProtKB/Swiss-Prot

A8K5G7, Q9H9S5

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. ...
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

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

UniProtKB/Swiss-Prot

A8K5G7, Q9H9S5
XM_047439429.1 → XP_047295385.1 ribitol 5-phosphate transferase FKRP isoform X1

UniProtKB/Swiss-Prot

A8K5G7, Q9H9S5
XM_047439427.1 → XP_047295383.1 ribitol 5-phosphate transferase FKRP isoform X1

UniProtKB/Swiss-Prot

A8K5G7, Q9H9S5
XM_047439424.1 → XP_047295380.1 ribitol 5-phosphate transferase FKRP isoform X1

UniProtKB/Swiss-Prot

A8K5G7, Q9H9S5
XM_047439425.1 → XP_047295381.1 ribitol 5-phosphate transferase FKRP isoform X1

UniProtKB/Swiss-Prot

A8K5G7, Q9H9S5
XM_047439421.1 → XP_047295377.1 ribitol 5-phosphate transferase FKRP isoform X1

UniProtKB/Swiss-Prot

A8K5G7, Q9H9S5

Alternate T2T-CHM13v2.0

Genomic

NC_060943.1 Alternate T2T-CHM13v2.0

Range

49570337..49584398

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/Swiss-Prot

A8K5G7, Q9H9S5
XM_054322120.1 → XP_054178095.1 ribitol 5-phosphate transferase FKRP isoform X1

UniProtKB/Swiss-Prot

A8K5G7, Q9H9S5
XM_054322122.1 → XP_054178097.1 ribitol 5-phosphate transferase FKRP isoform X1

UniProtKB/Swiss-Prot

A8K5G7, Q9H9S5
XM_054322121.1 → XP_054178096.1 ribitol 5-phosphate transferase FKRP isoform X1

UniProtKB/Swiss-Prot

A8K5G7, Q9H9S5
XM_054322130.1 → XP_054178105.1 ribitol 5-phosphate transferase FKRP isoform X1

UniProtKB/Swiss-Prot

A8K5G7, Q9H9S5
XM_054322124.1 → XP_054178099.1 ribitol 5-phosphate transferase FKRP isoform X1

UniProtKB/Swiss-Prot

A8K5G7, Q9H9S5
XM_054322123.1 → XP_054178098.1 ribitol 5-phosphate transferase FKRP isoform X1

UniProtKB/Swiss-Prot

A8K5G7, Q9H9S5
XM_054322131.1 → XP_054178106.1 ribitol 5-phosphate transferase FKRP isoform X1

UniProtKB/Swiss-Prot

A8K5G7, Q9H9S5
XM_054322119.1 → XP_054178094.1 ribitol 5-phosphate transferase FKRP isoform X1

UniProtKB/Swiss-Prot

A8K5G7, Q9H9S5
XM_054322132.1 → XP_054178107.1 ribitol 5-phosphate transferase FKRP isoform X1

UniProtKB/Swiss-Prot

A8K5G7, Q9H9S5
XM_054322129.1 → XP_054178104.1 ribitol 5-phosphate transferase FKRP isoform X1

UniProtKB/Swiss-Prot

A8K5G7, Q9H9S5
XM_054322133.1 → XP_054178108.1 ribitol 5-phosphate transferase FKRP isoform X1

UniProtKB/Swiss-Prot

A8K5G7, Q9H9S5
XM_054322128.1 → XP_054178103.1 ribitol 5-phosphate transferase FKRP isoform X1

UniProtKB/Swiss-Prot

A8K5G7, Q9H9S5
XM_054322125.1 → XP_054178100.1 ribitol 5-phosphate transferase FKRP isoform X1

UniProtKB/Swiss-Prot

A8K5G7, Q9H9S5
XM_054322126.1 → XP_054178101.1 ribitol 5-phosphate transferase FKRP isoform X1

UniProtKB/Swiss-Prot

A8K5G7, Q9H9S5