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FKRP fukutin related protein [ Homo sapiens (human) ]

Gene ID: 79147, updated on 8-Jul-2018
Official Symbol
FKRPprovided by HGNC
Official Full Name
fukutin related proteinprovided by HGNC
Primary source
HGNC:HGNC:17997
See related
Ensembl:ENSG00000181027 MIM:606596; Vega:OTTHUMG00000183177
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
MDC1C; LGMD2I; 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
See FKRP in Genome Data Viewer
Location:
19q13.32
Exon count:
5
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 19 NC_000019.10 (46746015..46758575)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (47249303..47261832)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene protein kinase D2 Neighboring gene uncharacterized LOC107987269 Neighboring gene microRNA 320e Neighboring gene striatin 4 Neighboring gene solute carrier family 1 member 5 Neighboring gene heterogeneous nuclear ribonucleoprotein M pseudogene 2

  • 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • MGC2991, FLJ12576

Gene Ontology Provided by GOA

Function Evidence Code Pubs
transferase activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
protein O-linked mannosylation IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein processing IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
Golgi apparatus IDA
Inferred from Direct Assay
more info
PubMed 
Golgi membrane IEA
Inferred from Electronic Annotation
more info
 
cytosol IDA
Inferred from Direct Assay
more info
 
dystrophin-associated glycoprotein complex IEA
Inferred from Electronic Annotation
more info
 
extracellular space IDA
Inferred from Direct Assay
more info
PubMed 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
nucleus IDA
Inferred from Direct Assay
more info
 
rough endoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
sarcolemma IEA
Inferred from Electronic Annotation
more info
 

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
    5001..17530
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001039885.2NP_001034974.1  fukutin-related protein

    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
    Q9H9S5
    UniProtKB/TrEMBL
    A0A024R0R7
    Related
    ENSP00000375776.2, OTTHUMP00000271083, ENST00000391909.7, OTTHUMT00000465480
    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_024301.4NP_077277.1  fukutin-related protein

    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
    Q9H9S5
    UniProtKB/TrEMBL
    A0A024R0R7
    Related
    ENSP00000326570.4, OTTHUMP00000271078, ENST00000318584.9, OTTHUMT00000465473
    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: 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
    46746015..46758575
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005259248.2XP_005259305.1  fukutin-related protein isoform X1

    See identical proteins and their annotated locations for XP_005259305.1

    UniProtKB/Swiss-Prot
    Q9H9S5
    UniProtKB/TrEMBL
    A0A024R0R7
    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. XM_005259247.2XP_005259304.1  fukutin-related protein isoform X1

    See identical proteins and their annotated locations for XP_005259304.1

    UniProtKB/Swiss-Prot
    Q9H9S5
    UniProtKB/TrEMBL
    A0A024R0R7
    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. ...
  3. XM_024451707.1XP_024307475.1  fukutin-related protein isoform X1

    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_017027297.2XP_016882786.1  fukutin-related protein isoform X1

    UniProtKB/Swiss-Prot
    Q9H9S5
    UniProtKB/TrEMBL
    A0A024R0R7
    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_011527306.2XP_011525608.1  fukutin-related protein isoform X1

    See identical proteins and their annotated locations for XP_011525608.1

    UniProtKB/Swiss-Prot
    Q9H9S5
    UniProtKB/TrEMBL
    A0A024R0R7
    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_011527307.1XP_011525609.1  fukutin-related protein isoform X1

    See identical proteins and their annotated locations for XP_011525609.1

    UniProtKB/Swiss-Prot
    Q9H9S5
    UniProtKB/TrEMBL
    A0A024R0R7
    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. ...
  7. XM_005259249.4XP_005259306.1  fukutin-related protein isoform X1

    See identical proteins and their annotated locations for XP_005259306.1

    UniProtKB/Swiss-Prot
    Q9H9S5
    UniProtKB/TrEMBL
    A0A024R0R7
    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. ...
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