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Protein

FGGY carbohydrate kinase domain-containing protein

Gene

FGGY

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-Experimental evidence at protein leveli

Functioni

GO - Molecular functioni

GO - Biological processi

  • carbohydrate metabolic process Source: InterPro
  • neuron cellular homeostasis Source: UniProtKB
  • phosphorylation Source: GO_Central
Complete GO annotation...

Keywords - Molecular functioni

Kinase, Transferase

Enzyme and pathway databases

BioCyciZFISH:ENSG00000172456-MONOMER.

Names & Taxonomyi

Protein namesi
Recommended name:
FGGY carbohydrate kinase domain-containing protein (EC:2.7.1.-)
Gene namesi
Name:FGGY
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

HGNCiHGNC:25610. FGGY.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Pathology & Biotechi

Involvement in diseasei

Amyotrophic lateral sclerosis (ALS)1 Publication
Disease susceptibility is associated with variations affecting the gene represented in this entry.
Disease descriptionA neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases.
See also OMIM:105400

Keywords - Diseasei

Amyotrophic lateral sclerosis, Neurodegeneration

Organism-specific databases

DisGeNETi55277.
MIMi105400. phenotype.
OpenTargetsiENSG00000172456.
PharmGKBiPA162388453.

Polymorphism and mutation databases

BioMutaiFGGY.
DMDMi172045850.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003264521 – 551FGGY carbohydrate kinase domain-containing proteinAdd BLAST551

Proteomic databases

EPDiQ96C11.
MaxQBiQ96C11.
PaxDbiQ96C11.
PeptideAtlasiQ96C11.
PRIDEiQ96C11.

PTM databases

iPTMnetiQ96C11.
PhosphoSitePlusiQ96C11.

Expressioni

Tissue specificityi

Expressed in kidney, lung and small intestine and to a lower extent in liver and detected in cerebrospinal fluid (at protein level).1 Publication

Developmental stagei

Expressed in fetal brain (at protein level).1 Publication

Gene expression databases

BgeeiENSG00000172456.
CleanExiHS_FGGY.
ExpressionAtlasiQ96C11. baseline and differential.
GenevisibleiQ96C11. HS.

Organism-specific databases

HPAiHPA052442.
HPA054971.

Interactioni

Protein-protein interaction databases

BioGridi120565. 2 interactors.
STRINGi9606.ENSP00000360262.

Structurei

3D structure databases

ProteinModelPortaliQ96C11.
SMRiQ96C11.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the FGGY kinase family.Curated

Phylogenomic databases

eggNOGiENOG410IR1J. Eukaryota.
COG1069. LUCA.
GeneTreeiENSGT00390000005037.
HOGENOMiHOG000222136.
HOVERGENiHBG055703.
InParanoidiQ96C11.
OMAiYSKIGNQ.
OrthoDBiEOG091G08VQ.
PhylomeDBiQ96C11.
TreeFamiTF300904.

Family and domain databases

CDDicd07782. FGGY_YpCarbK_like. 1 hit.
InterProiIPR000577. Carb_kinase_FGGY.
IPR018485. Carb_kinase_FGGY_C.
IPR018484. Carb_kinase_FGGY_N.
IPR006003. FGGY_RbtK-like.
[Graphical view]
PfamiPF02782. FGGY_C. 1 hit.
PF00370. FGGY_N. 1 hit.
[Graphical view]
PIRSFiPIRSF000538. GlpK. 1 hit.
TIGRFAMsiTIGR01315. 5C_CHO_kinase. 1 hit.

Sequences (6)i

Sequence statusi: Complete.

This entry describes 6 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q96C11-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MSGGEQKPER YYVGVDVGTG SVRAALVDQS GVLLAFADQP IKNWEPQFNH
60 70 80 90 100
HEQSSEDIWA ACCVVTKKVV QGIDLNQIRG LGFDATCSLV VLDKQFHPLP
110 120 130 140 150
VNQEGDSHRN VIMWLDHRAV SQVNRINETK HSVLQYVGGV MSVEMQAPKL
160 170 180 190 200
LWLKENLREI CWDKAGHFFD LPDFLSWKAT GVTARSLCSL VCKWTYSAEK
210 220 230 240 250
GWDDSFWKMI GLEDFVADNY SKIGNQVLPP GASLGNGLTP EAARDLGLLP
260 270 280 290 300
GIAVAASLID AHAGGLGVIG ADVRGHGLIC EGQPVTSRLA VICGTSSCHM
310 320 330 340 350
GISKDPIFVP GVWGPYFSAM VPGFWLNEGG QSVTGKLIDH MVQGHAAFPE
360 370 380 390 400
LQVKATARCQ SIYAYLNSHL DLIKKAQPVG FLTVDLHVWP DFHGNRSPLA
410 420 430 440 450
DLTLKGMVTG LKLSQDLDDL AILYLATVQA IALGTRFIIE AMEAAGHSIS
460 470 480 490 500
TLFLCGGLSK NPLFVQMHAD ITGMPVVLSQ EVESVLVGAA VLGACASGDF
510 520 530 540 550
ASVQEAMAKM SKVGKVVFPR LQDKKYYDKK YQVFLKLVEH QKEYLAIMND

D
Length:551
Mass (Da):59,993
Last modified:March 18, 2008 - v2
Checksum:i938946C33E6DC78F
GO
Isoform 2 (identifier: Q96C11-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-112: Missing.
     359-551: Missing.

Note: No experimental confirmation available.
Show »
Length:246
Mass (Da):26,577
Checksum:i04D5374635B4DB01
GO
Isoform 3 (identifier: Q96C11-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-112: Missing.

Note: No experimental confirmation available.
Show »
Length:439
Mass (Da):47,706
Checksum:i6DF2354474EBE3E8
GO
Isoform 4 (identifier: Q96C11-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     407-407: M → MRTTGYLYIPALAALHSPSSLLSPQ

Note: No experimental confirmation available.
Show »
Length:575
Mass (Da):62,532
Checksum:i3F1D3C60B539B98A
GO
Isoform 5 (identifier: Q96C11-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     68-155: Missing.

Show »
Length:463
Mass (Da):50,035
Checksum:iC124C94AEBB4384A
GO
Isoform 6 (identifier: Q96C11-6) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-299: Missing.

Note: No experimental confirmation available.
Show »
Length:252
Mass (Da):27,502
Checksum:i287A650AB8235124
GO

Sequence cautioni

The sequence AAH14947 differs from that shown. Reason: Erroneous initiation.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_05919343N → K.Corresponds to variant rs835409dbSNPEnsembl.1
Natural variantiVAR_040072134L → V.Corresponds to variant rs11207463dbSNPEnsembl.1
Natural variantiVAR_059194246L → V.Corresponds to variant rs11207463dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0545331 – 299Missing in isoform 6. 1 PublicationAdd BLAST299
Alternative sequenceiVSP_0326581 – 112Missing in isoform 2 and isoform 3. 1 PublicationAdd BLAST112
Alternative sequenceiVSP_04533868 – 155Missing in isoform 5. 1 PublicationAdd BLAST88
Alternative sequenceiVSP_032659359 – 551Missing in isoform 2. 1 PublicationAdd BLAST193
Alternative sequenceiVSP_033424407M → MRTTGYLYIPALAALHSPSS LLSPQ in isoform 4. Curated1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK001848 mRNA. Translation: BAA91940.1.
AK022237 mRNA. Translation: BAB13993.1.
AK054842 mRNA. Translation: BAG51432.1.
AK315649 mRNA. Translation: BAG38015.1.
AL954338 Genomic DNA. No translation available.
AL713859
, AC093424, AL035416, AL390234, BX119322 Genomic DNA. Translation: CAH71629.1.
AL390234
, AC093424, AL035416, AL713859, BX119322 Genomic DNA. Translation: CAI18949.1.
BX119322
, AC093424, AL035416, AL390234, AL713859 Genomic DNA. Translation: CAI22210.1.
AL035416
, AC093424, AL390234, AL713859, BX119322 Genomic DNA. Translation: CAI22776.1.
AL713859
, AC093424, AL035416, AL390234, BX119322 Genomic DNA. Translation: CAH71628.1.
AL390234
, AC093424, AL035416, AL713859, BX119322 Genomic DNA. Translation: CAI18948.1.
BX119322
, AC093424, AL035416, AL390234, AL713859 Genomic DNA. Translation: CAI22209.1.
AL035416
, AC093424, AL390234, AL713859, BX119322 Genomic DNA. Translation: CAI22775.1.
AL713859
, AC093424, AL035416, AL390234, BX119322 Genomic DNA. Translation: CAH71630.1.
AL390234
, AC093424, AL035416, AL713859, BX119322 Genomic DNA. Translation: CAI18947.1.
BX119322
, AC093424, AL035416, AL390234, AL713859 Genomic DNA. Translation: CAI22211.1.
AL035416
, AC093424, AL390234, AL713859, BX119322 Genomic DNA. Translation: CAI22777.1.
CH471059 Genomic DNA. Translation: EAX06619.1.
CH471059 Genomic DNA. Translation: EAX06621.1.
CH471059 Genomic DNA. Translation: EAX06622.1.
CH471059 Genomic DNA. Translation: EAX06623.1.
CH471059 Genomic DNA. Translation: EAX06624.1.
BC014947 mRNA. Translation: AAH14947.1. Different initiation.
CCDSiCCDS44155.1. [Q96C11-3]
CCDS58003.1. [Q96C11-5]
CCDS60155.1. [Q96C11-6]
CCDS611.2. [Q96C11-1]
RefSeqiNP_001106882.1. NM_001113411.1. [Q96C11-3]
NP_001231643.1. NM_001244714.1. [Q96C11-5]
NP_001265153.1. NM_001278224.1. [Q96C11-6]
NP_060761.3. NM_018291.3. [Q96C11-1]
XP_011540032.1. XM_011541730.1. [Q96C11-3]
XP_011540033.1. XM_011541731.1. [Q96C11-3]
XP_011540034.1. XM_011541732.1. [Q96C11-3]
XP_011540035.1. XM_011541733.1. [Q96C11-3]
XP_011540037.1. XM_011541735.1. [Q96C11-1]
XP_016857132.1. XM_017001643.1. [Q96C11-3]
XP_016857133.1. XM_017001644.1. [Q96C11-3]
XP_016857134.1. XM_017001645.1. [Q96C11-1]
XP_016857135.1. XM_017001646.1. [Q96C11-1]
XP_016857136.1. XM_017001647.1. [Q96C11-1]
XP_016857155.1. XM_017001666.1. [Q96C11-5]
XP_016857156.1. XM_017001667.1. [Q96C11-5]
XP_016857161.1. XM_017001672.1. [Q96C11-4]
XP_016857162.1. XM_017001673.1. [Q96C11-4]
UniGeneiHs.444301.

Genome annotation databases

EnsembliENST00000303721; ENSP00000305922; ENSG00000172456. [Q96C11-1]
ENST00000371210; ENSP00000360254; ENSG00000172456. [Q96C11-6]
ENST00000371212; ENSP00000360256; ENSG00000172456. [Q96C11-5]
ENST00000371218; ENSP00000360262; ENSG00000172456. [Q96C11-3]
ENST00000635156; ENSP00000489417; ENSG00000172456. [Q96C11-5]
GeneIDi55277.
KEGGihsa:55277.
UCSCiuc001czi.6. human. [Q96C11-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK001848 mRNA. Translation: BAA91940.1.
AK022237 mRNA. Translation: BAB13993.1.
AK054842 mRNA. Translation: BAG51432.1.
AK315649 mRNA. Translation: BAG38015.1.
AL954338 Genomic DNA. No translation available.
AL713859
, AC093424, AL035416, AL390234, BX119322 Genomic DNA. Translation: CAH71629.1.
AL390234
, AC093424, AL035416, AL713859, BX119322 Genomic DNA. Translation: CAI18949.1.
BX119322
, AC093424, AL035416, AL390234, AL713859 Genomic DNA. Translation: CAI22210.1.
AL035416
, AC093424, AL390234, AL713859, BX119322 Genomic DNA. Translation: CAI22776.1.
AL713859
, AC093424, AL035416, AL390234, BX119322 Genomic DNA. Translation: CAH71628.1.
AL390234
, AC093424, AL035416, AL713859, BX119322 Genomic DNA. Translation: CAI18948.1.
BX119322
, AC093424, AL035416, AL390234, AL713859 Genomic DNA. Translation: CAI22209.1.
AL035416
, AC093424, AL390234, AL713859, BX119322 Genomic DNA. Translation: CAI22775.1.
AL713859
, AC093424, AL035416, AL390234, BX119322 Genomic DNA. Translation: CAH71630.1.
AL390234
, AC093424, AL035416, AL713859, BX119322 Genomic DNA. Translation: CAI18947.1.
BX119322
, AC093424, AL035416, AL390234, AL713859 Genomic DNA. Translation: CAI22211.1.
AL035416
, AC093424, AL390234, AL713859, BX119322 Genomic DNA. Translation: CAI22777.1.
CH471059 Genomic DNA. Translation: EAX06619.1.
CH471059 Genomic DNA. Translation: EAX06621.1.
CH471059 Genomic DNA. Translation: EAX06622.1.
CH471059 Genomic DNA. Translation: EAX06623.1.
CH471059 Genomic DNA. Translation: EAX06624.1.
BC014947 mRNA. Translation: AAH14947.1. Different initiation.
CCDSiCCDS44155.1. [Q96C11-3]
CCDS58003.1. [Q96C11-5]
CCDS60155.1. [Q96C11-6]
CCDS611.2. [Q96C11-1]
RefSeqiNP_001106882.1. NM_001113411.1. [Q96C11-3]
NP_001231643.1. NM_001244714.1. [Q96C11-5]
NP_001265153.1. NM_001278224.1. [Q96C11-6]
NP_060761.3. NM_018291.3. [Q96C11-1]
XP_011540032.1. XM_011541730.1. [Q96C11-3]
XP_011540033.1. XM_011541731.1. [Q96C11-3]
XP_011540034.1. XM_011541732.1. [Q96C11-3]
XP_011540035.1. XM_011541733.1. [Q96C11-3]
XP_011540037.1. XM_011541735.1. [Q96C11-1]
XP_016857132.1. XM_017001643.1. [Q96C11-3]
XP_016857133.1. XM_017001644.1. [Q96C11-3]
XP_016857134.1. XM_017001645.1. [Q96C11-1]
XP_016857135.1. XM_017001646.1. [Q96C11-1]
XP_016857136.1. XM_017001647.1. [Q96C11-1]
XP_016857155.1. XM_017001666.1. [Q96C11-5]
XP_016857156.1. XM_017001667.1. [Q96C11-5]
XP_016857161.1. XM_017001672.1. [Q96C11-4]
XP_016857162.1. XM_017001673.1. [Q96C11-4]
UniGeneiHs.444301.

3D structure databases

ProteinModelPortaliQ96C11.
SMRiQ96C11.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi120565. 2 interactors.
STRINGi9606.ENSP00000360262.

PTM databases

iPTMnetiQ96C11.
PhosphoSitePlusiQ96C11.

Polymorphism and mutation databases

BioMutaiFGGY.
DMDMi172045850.

Proteomic databases

EPDiQ96C11.
MaxQBiQ96C11.
PaxDbiQ96C11.
PeptideAtlasiQ96C11.
PRIDEiQ96C11.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000303721; ENSP00000305922; ENSG00000172456. [Q96C11-1]
ENST00000371210; ENSP00000360254; ENSG00000172456. [Q96C11-6]
ENST00000371212; ENSP00000360256; ENSG00000172456. [Q96C11-5]
ENST00000371218; ENSP00000360262; ENSG00000172456. [Q96C11-3]
ENST00000635156; ENSP00000489417; ENSG00000172456. [Q96C11-5]
GeneIDi55277.
KEGGihsa:55277.
UCSCiuc001czi.6. human. [Q96C11-1]

Organism-specific databases

CTDi55277.
DisGeNETi55277.
GeneCardsiFGGY.
HGNCiHGNC:25610. FGGY.
HPAiHPA052442.
HPA054971.
MIMi105400. phenotype.
611370. gene.
neXtProtiNX_Q96C11.
OpenTargetsiENSG00000172456.
PharmGKBiPA162388453.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IR1J. Eukaryota.
COG1069. LUCA.
GeneTreeiENSGT00390000005037.
HOGENOMiHOG000222136.
HOVERGENiHBG055703.
InParanoidiQ96C11.
OMAiYSKIGNQ.
OrthoDBiEOG091G08VQ.
PhylomeDBiQ96C11.
TreeFamiTF300904.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000172456-MONOMER.

Miscellaneous databases

GenomeRNAii55277.
PROiQ96C11.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000172456.
CleanExiHS_FGGY.
ExpressionAtlasiQ96C11. baseline and differential.
GenevisibleiQ96C11. HS.

Family and domain databases

CDDicd07782. FGGY_YpCarbK_like. 1 hit.
InterProiIPR000577. Carb_kinase_FGGY.
IPR018485. Carb_kinase_FGGY_C.
IPR018484. Carb_kinase_FGGY_N.
IPR006003. FGGY_RbtK-like.
[Graphical view]
PfamiPF02782. FGGY_C. 1 hit.
PF00370. FGGY_N. 1 hit.
[Graphical view]
PIRSFiPIRSF000538. GlpK. 1 hit.
TIGRFAMsiTIGR01315. 5C_CHO_kinase. 1 hit.
ProtoNetiSearch...

Entry informationi

Entry nameiFGGY_HUMAN
AccessioniPrimary (citable) accession number: Q96C11
Secondary accession number(s): B1AK92
, B1AK93, B1AK94, B2RDR8, D3DQ56, Q9HA63, Q9NV20
Entry historyi
Integrated into UniProtKB/Swiss-Prot: March 18, 2008
Last sequence update: March 18, 2008
Last modified: November 2, 2016
This is version 113 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.