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Q96C11 (FGGY_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 93. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
FGGY carbohydrate kinase domain-containing protein

EC=2.7.1.-
Gene names
Name:FGGY
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length551 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Tissue specificity

Expressed in kidney, lung and small intestine and to a lower extent in liver and detected in cerebrospinal fluid (at protein level). Ref.5

Developmental stage

Expressed in fetal brain (at protein level). Ref.5

Involvement in disease

Amyotrophic lateral sclerosis (ALS) [MIM:105400]: A 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.
Note: Disease susceptibility is associated with variations affecting the gene represented in this entry.

Sequence similarities

Belongs to the FGGY kinase family.

Sequence caution

The sequence AAH14947.1 differs from that shown. Reason: Erroneous initiation.

Alternative products

This entry describes 6 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q96C11-1)

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.
Isoform 2 (identifier: Q96C11-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-112: Missing.
     359-551: Missing.
Note: No experimental confirmation available.
Isoform 3 (identifier: Q96C11-4)

The sequence of this isoform differs from the canonical sequence as follows:
     1-112: Missing.
Note: No experimental confirmation available.
Isoform 4 (identifier: Q96C11-3)

The sequence of this isoform differs from the canonical sequence as follows:
     407-407: M → MRTTGYLYIPALAALHSPSSLLSPQ
Note: No experimental confirmation available.
Isoform 5 (identifier: Q96C11-5)

The sequence of this isoform differs from the canonical sequence as follows:
     68-155: Missing.
Isoform 6 (identifier: Q96C11-6)

The sequence of this isoform differs from the canonical sequence as follows:
     1-299: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 551551FGGY carbohydrate kinase domain-containing protein
PRO_0000326452

Natural variations

Alternative sequence1 – 299299Missing in isoform 6.
VSP_054533
Alternative sequence1 – 112112Missing in isoform 2 and isoform 3.
VSP_032658
Alternative sequence68 – 15588Missing in isoform 5.
VSP_045338
Alternative sequence359 – 551193Missing in isoform 2.
VSP_032659
Alternative sequence4071M → MRTTGYLYIPALAALHSPSS LLSPQ in isoform 4.
VSP_033424
Natural variant431N → K.
Corresponds to variant rs835409 [ dbSNP | Ensembl ].
VAR_059193
Natural variant1341L → V.
Corresponds to variant rs11207463 [ dbSNP | Ensembl ].
VAR_040072
Natural variant2461L → V.
Corresponds to variant rs11207463 [ dbSNP | Ensembl ].
VAR_059194

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified March 18, 2008. Version 2.
Checksum: 938946C33E6DC78F

FASTA55159,993
        10         20         30         40         50         60 
MSGGEQKPER YYVGVDVGTG SVRAALVDQS GVLLAFADQP IKNWEPQFNH HEQSSEDIWA 

        70         80         90        100        110        120 
ACCVVTKKVV QGIDLNQIRG LGFDATCSLV VLDKQFHPLP VNQEGDSHRN VIMWLDHRAV 

       130        140        150        160        170        180 
SQVNRINETK HSVLQYVGGV MSVEMQAPKL LWLKENLREI CWDKAGHFFD LPDFLSWKAT 

       190        200        210        220        230        240 
GVTARSLCSL VCKWTYSAEK GWDDSFWKMI GLEDFVADNY SKIGNQVLPP GASLGNGLTP 

       250        260        270        280        290        300 
EAARDLGLLP GIAVAASLID AHAGGLGVIG ADVRGHGLIC EGQPVTSRLA VICGTSSCHM 

       310        320        330        340        350        360 
GISKDPIFVP GVWGPYFSAM VPGFWLNEGG QSVTGKLIDH MVQGHAAFPE LQVKATARCQ 

       370        380        390        400        410        420 
SIYAYLNSHL DLIKKAQPVG FLTVDLHVWP DFHGNRSPLA DLTLKGMVTG LKLSQDLDDL 

       430        440        450        460        470        480 
AILYLATVQA IALGTRFIIE AMEAAGHSIS TLFLCGGLSK NPLFVQMHAD ITGMPVVLSQ 

       490        500        510        520        530        540 
EVESVLVGAA VLGACASGDF ASVQEAMAKM SKVGKVVFPR LQDKKYYDKK YQVFLKLVEH 

       550 
QKEYLAIMND D 

« Hide

Isoform 2 [UniParc].

Checksum: 04D5374635B4DB01
Show »

FASTA24626,577
Isoform 3 [UniParc].

Checksum: 6DF2354474EBE3E8
Show »

FASTA43947,706
Isoform 4 [UniParc].

Checksum: 3F1D3C60B539B98A
Show »

FASTA57562,532
Isoform 5 [UniParc].

Checksum: C124C94AEBB4384A
Show »

FASTA46350,035
Isoform 6 [UniParc].

Checksum: 287A650AB8235124
Show »

FASTA25227,502

References

« Hide 'large scale' references
[1]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2; 3; 5 AND 6).
Tissue: Cerebellum, Mammary gland, Placenta and Synovium.
[2]"The DNA sequence and biological annotation of human chromosome 1."
Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K. expand/collapse author list , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.
Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
Tissue: Skin.
[5]"Whole-genome analysis of sporadic amyotrophic lateral sclerosis."
Dunckley T., Huentelman M.J., Craig D.W., Pearson J.V., Szelinger S., Joshipura K., Halperin R.F., Stamper C., Jensen K.R., Letizia D., Hesterlee S.E., Pestronk A., Levine T., Bertorini T., Graves M.C., Mozaffar T., Jackson C.E., Bosch P. expand/collapse author list , McVey A., Dick A., Barohn R., Lomen-Hoerth C., Rosenfeld J., O'connor D.T., Zhang K., Crook R., Ryberg H., Hutton M., Katz J., Simpson E.P., Mitsumoto H., Bowser R., Miller R.G., Appel S.H., Stephan D.A.
N. Engl. J. Med. 357:775-788(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: INVOLVEMENT IN SPORADIC AMYOTROPHIC LATERAL SCLEROSIS, TISSUE SPECIFICITY, DEVELOPMENTAL STAGE.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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 expand/collapse EMBL AC list , AC093424, AL035416, AL390234, BX119322 Genomic DNA. Translation: CAH71629.1.
AL390234 expand/collapse EMBL AC list , AC093424, AL035416, AL713859, BX119322 Genomic DNA. Translation: CAI18949.1.
BX119322 expand/collapse EMBL AC list , AC093424, AL035416, AL390234, AL713859 Genomic DNA. Translation: CAI22210.1.
AL035416 expand/collapse EMBL AC list , AC093424, AL390234, AL713859, BX119322 Genomic DNA. Translation: CAI22776.1.
AL713859 expand/collapse EMBL AC list , AC093424, AL035416, AL390234, BX119322 Genomic DNA. Translation: CAH71628.1.
AL390234 expand/collapse EMBL AC list , AC093424, AL035416, AL713859, BX119322 Genomic DNA. Translation: CAI18948.1.
BX119322 expand/collapse EMBL AC list , AC093424, AL035416, AL390234, AL713859 Genomic DNA. Translation: CAI22209.1.
AL035416 expand/collapse EMBL AC list , AC093424, AL390234, AL713859, BX119322 Genomic DNA. Translation: CAI22775.1.
AL713859 expand/collapse EMBL AC list , AC093424, AL035416, AL390234, BX119322 Genomic DNA. Translation: CAH71630.1.
AL390234 expand/collapse EMBL AC list , AC093424, AL035416, AL713859, BX119322 Genomic DNA. Translation: CAI18947.1.
BX119322 expand/collapse EMBL AC list , AC093424, AL035416, AL390234, AL713859 Genomic DNA. Translation: CAI22211.1.
AL035416 expand/collapse EMBL AC list , 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.
CCDSCCDS44155.1. [Q96C11-3]
CCDS58003.1. [Q96C11-5]
CCDS611.2. [Q96C11-1]
RefSeqNP_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]
UniGeneHs.444301.

3D structure databases

ProteinModelPortalQ96C11.
SMRQ96C11. Positions 11-548.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid120565. 1 interaction.
STRING9606.ENSP00000360262.

PTM databases

PhosphoSiteQ96C11.

Polymorphism databases

DMDM172045850.

Proteomic databases

MaxQBQ96C11.
PaxDbQ96C11.
PRIDEQ96C11.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000303721; ENSP00000305922; ENSG00000172456. [Q96C11-1]
ENST00000371210; ENSP00000360254; ENSG00000172456.
ENST00000371212; ENSP00000360256; ENSG00000172456. [Q96C11-5]
ENST00000371218; ENSP00000360262; ENSG00000172456. [Q96C11-3]
GeneID55277.
KEGGhsa:55277.
UCSCuc001czg.2. human. [Q96C11-2]
uc001czi.4. human. [Q96C11-1]
uc001czl.4. human.
uc009wac.3. human. [Q96C11-3]

Organism-specific databases

CTD55277.
GeneCardsGC01P059762.
HGNCHGNC:25610. FGGY.
HPAHPA052442.
HPA054971.
MIM105400. phenotype.
611370. gene.
neXtProtNX_Q96C11.
PharmGKBPA162388453.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG1069.
HOGENOMHOG000222136.
HOVERGENHBG055703.
OMAWKATGVT.
OrthoDBEOG7BS490.
PhylomeDBQ96C11.
TreeFamTF300904.

Gene expression databases

ArrayExpressQ96C11.
BgeeQ96C11.
CleanExHS_FGGY.
GenevestigatorQ96C11.

Family and domain databases

InterProIPR006003. Carb_kinase_FGGY-rel.
IPR018485. Carb_kinase_FGGY_C.
IPR018484. Carb_kinase_FGGY_N.
[Graphical view]
PfamPF02782. FGGY_C. 1 hit.
PF00370. FGGY_N. 1 hit.
[Graphical view]
TIGRFAMsTIGR01315. 5C_CHO_kinase. 1 hit.
ProtoNetSearch...

Other

GenomeRNAi55277.
NextBio59413.
PROQ96C11.
SOURCESearch...

Entry information

Entry nameFGGY_HUMAN
AccessionPrimary (citable) accession number: Q96C11
Secondary accession number(s): B1AK92 expand/collapse secondary AC list , B1AK93, B1AK94, B2RDR8, D3DQ56, Q9HA63, Q9NV20
Entry history
Integrated into UniProtKB/Swiss-Prot: March 18, 2008
Last sequence update: March 18, 2008
Last modified: July 9, 2014
This is version 93 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 1

Human chromosome 1: entries, gene names and cross-references to MIM