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FGGY FGGY carbohydrate kinase domain containing [ Homo sapiens (human) ]

Gene ID: 55277, updated on 17-Jan-2015
Official Symbol
FGGYprovided by HGNC
Official Full Name
FGGY carbohydrate kinase domain containingprovided by HGNC
Primary source
HGNC:HGNC:25610
Locus tag
RP11-242B9.1
See related
Ensembl:ENSG00000172456; HPRD:07721; MIM:611370; Vega:OTTHUMG00000008424
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
Summary
This gene encodes a protein that phosphorylates carbohydrates such as ribulose, ribitol, and L-arabinitol. Genome-wide association studies in some populations have found an association between polymorphisms in this gene and sporadic amyotrophic lateral sclerosis, but studies of other populations have not been able to replicate this association. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]
Annotation information
Annotation category: partial on reference assembly
Orthologs
See FGGY in MapViewer
Location:
1p32.1
Exon count:
21
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 1 NC_000001.11 (59296953..59762730)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (59762625..60228402)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 1358 Neighboring gene uncharacterized LOC729467 Neighboring gene uncharacterized LOC101926944 Neighboring gene microRNA 4711 Neighboring gene hook microtubule-tethering protein 1

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

NHGRI GWAS Catalog

Description
Duffy-null-associated low neutrophil counts influence HIV-1 susceptibility in high-risk South African black women.
NHGRI GWA Catalog
Genomewide association study of movement-related adverse antipsychotic effects.
NHGRI GWA Catalog
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
NHGRI GWA Catalog

Markers

Homology

Clone Names

  • FLJ10986

Gene Ontology Provided by GOA

Function Evidence Code Pubs
kinase activity IEA
Inferred from Electronic Annotation
more info
 
molecular_function ND
No biological Data available
more info
 
phosphotransferase activity, alcohol group as acceptor IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
carbohydrate metabolic process IEA
Inferred from Electronic Annotation
more info
 
neuron cellular homeostasis IMP
Inferred from Mutant Phenotype
more info
PubMed 
phosphorylation IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cellular_component ND
No biological Data available
more info
 
Preferred Names
FGGY carbohydrate kinase domain-containing protein
Names
FGGY carbohydrate kinase domain-containing protein
NP_001106882.1
NP_001231643.1
NP_001265153.1
NP_060761.3

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_030039.1 

    Range
    5001..470778
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001113411.1NP_001106882.1  FGGY carbohydrate kinase domain-containing protein isoform a

    See proteins identical to NP_001106882.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (a).
    Source sequence(s)
    AA830864, BC014947, BX647626, DA969344
    Consensus CDS
    CCDS44155.1
    UniProtKB/Swiss-Prot
    Q96C11
    Related
    ENSP00000360262, OTTHUMP00000010078, ENST00000371218, OTTHUMT00000023206
    Conserved Domains (2) summary
    cd07782
    Location:10568
    FGGY_YpCarbK_like; Yersinia Pseudotuberculosis carbohydrate kinase-like subgroup; belongs to the FGGY family of carbohydrate kinases
    TIGR01315
    Location:11568
    CG11594_isoform_A; FGGY-family pentulose kinase
  2. NM_001244714.1NP_001231643.1  FGGY carbohydrate kinase domain-containing protein isoform c

    See proteins identical to NP_001231643.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR and lacks three alternate in-frame exons, compared to variant 1. The encoded isoform (c) is shorter than isoform a.
    Source sequence(s)
    AK054842, BU630162, DA072156
    Consensus CDS
    CCDS58003.1
    UniProtKB/Swiss-Prot
    Q96C11
    Related
    ENSP00000360256, OTTHUMP00000010082, ENST00000371212, OTTHUMT00000023211
    Conserved Domains (2) summary
    cd07782
    Location:10456
    FGGY_YpCarbK_like; Yersinia Pseudotuberculosis carbohydrate kinase-like subgroup; belongs to the FGGY family of carbohydrate kinases
    TIGR01315
    Location:11456
    CG11594_isoform_A; FGGY-family pentulose kinase
  3. NM_001278224.1NP_001265153.1  FGGY carbohydrate kinase domain-containing protein isoform d

    See proteins identical to NP_001265153.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR and contains multiple differences in the coding region, including the lack of multiple 5' coding exons, compared to variant 1. It represents use of an alternate promoter and initiates translation at a downstream in-frame start codon. The encoded isoform (d) has a shorter N-terminus, compared to isoform a.
    Source sequence(s)
    AA830864, AL390234, BC014947
    Consensus CDS
    CCDS60155.1
    UniProtKB/Swiss-Prot
    Q96C11
    Related
    ENSP00000360254, OTTHUMP00000010079, ENST00000371210, OTTHUMT00000023207
    Conserved Domains (1) summary
    cl17037
    Location:1245
    NBD_sugar-kinase_HSP70_actin; Nucleotide-Binding Domain of the sugar kinase/HSP70/actin superfamily
  4. NM_018291.3NP_060761.3  FGGY carbohydrate kinase domain-containing protein isoform b

    See proteins identical to NP_060761.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon, compared to variant 1. The encoded isoform (b) is shorter than isoform a.
    Source sequence(s)
    AA830864, BC014947, DA969344
    Consensus CDS
    CCDS611.2
    UniProtKB/Swiss-Prot
    Q96C11
    Related
    ENSP00000305922, OTTHUMP00000010081, ENST00000303721, OTTHUMT00000023210
    Conserved Domains (2) summary
    cd07782
    Location:10544
    FGGY_YpCarbK_like; Yersinia Pseudotuberculosis carbohydrate kinase-like subgroup; belongs to the FGGY family of carbohydrate kinases
    TIGR01315
    Location:11544
    CG11594_isoform_A; FGGY-family pentulose kinase

RNA

  1. NR_103473.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) contains multiple differences at the 5' and 3' ends, compared to variant 1. This variant is represented as non-coding because use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AK090568, BC014947

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000001.11 

    Range
    59296953..59762730
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018912.2 

    Range
    59878088..60343919
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000133.1 

    Range
    57873726..58339725
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)