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Q9H5K3 (SG196_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 102. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Protein O-mannose kinase

Short name=POMK
EC=2.7.1.-
Alternative name(s):
Protein kinase-like protein SgK196
Sugen kinase 196
Gene names
Name:POMK
Synonyms:SGK196
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length350 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Protein O-mannose kinase that specifically mediates phosphorylation at the 6-position of an O-mannose of the trisaccharide (N-acetylgalactosamine (GalNAc)-beta-1,3-N-acetylglucosamine (GlcNAc)-beta-1,4-mannose) to generate phosphorylated O-mannosyl trisaccharide (N-acetylgalactosamine-beta-1,3-N-acetylglucosamine-beta-1,4-(phosphate-6-)mannose). Phosphorylated O-mannosyl trisaccharide is a carbohydrate structure present in alpha-dystroglycan (DAG1), which is required for binding laminin G-like domain-containing extracellular proteins with high affinity. Only shows kinase activity when the GalNAc-beta-3-GlcNAc-beta-terminus is linked to the 4-position of O-mannose, suggesting that this disaccharide serves as the substrate recognition motif. Ref.7 Ref.8

Catalytic activity

ATP + N-acetyl-beta-D-galactosaminyl-(1->3)-N-acetyl-beta-D-glucosaminyl-(1->4)-O-alpha-D-mannosylprotein = ADP + N-acetyl-beta-D-galactosaminyl-(1->3)-N-acetyl-beta-D-glucosaminyl-(1->4)-O-alpha-D-(6-phospho)mannosylprotein. Ref.7

Subcellular location

Endoplasmic reticulum membrane; Single-pass type II membrane protein Probable.

Involvement in disease

Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A12 (MDDGA12) [MIM:615249]: An autosomal recessive disorder characterized by congenital muscular dystrophy associated with cobblestone lissencephaly and other brain anomalies, eye malformations, profound mental retardation, and death usually in the first years of life. Included diseases are the more severe Walker-Warburg syndrome and the slightly less severe muscle-eye-brain disease.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.7 Ref.8

Sequence similarities

Belongs to the protein kinase superfamily. Ser/Thr protein kinase family. STKL subfamily.

Contains 1 protein kinase domain.

Caution

Although related to the Ser/Thr protein kinase family, has no protein kinase activity and acts as a mannose kinase instead (Ref.7).

Biophysicochemical properties

Kinetic parameters:

KM=4.1 µM for ATP Ref.7

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 350350Protein O-mannose kinase
PRO_0000262996

Regions

Topological domain1 – 2020Cytoplasmic Potential
Transmembrane21 – 4323Helical; Signal-anchor for type II membrane protein; Potential
Topological domain44 – 350307Lumenal Potential
Domain81 – 350270Protein kinase

Amino acid modifications

Modified residue11N-acetylmethionine Ref.5
Glycosylation1651N-linked (GlcNAc...) Potential
Glycosylation2201N-linked (GlcNAc...) Potential
Glycosylation2351N-linked (GlcNAc...) Potential

Natural variations

Natural variant481S → P. Ref.6
Corresponds to variant rs34466747 [ dbSNP | Ensembl ].
VAR_041372
Natural variant1371L → R in MDDGA12; loss of kinase activity. Ref.7 Ref.8
VAR_069625
Natural variant1401Y → F. Ref.6
Corresponds to variant rs34750053 [ dbSNP | Ensembl ].
VAR_041373
Natural variant2541V → M. Ref.6
Corresponds to variant rs34715198 [ dbSNP | Ensembl ].
VAR_041374
Natural variant2581Q → R in MDDGA12. Ref.8
VAR_069626
Natural variant3011M → T. Ref.6
Corresponds to variant rs33920561 [ dbSNP | Ensembl ].
VAR_041375
Natural variant3421M → I in a lung small cell carcinoma sample; somatic mutation. Ref.6
VAR_041376

Sequences

Sequence LengthMass (Da)Tools
Q9H5K3 [UniParc].

Last modified March 1, 2001. Version 1.
Checksum: E074FDB2E5861B0F

FASTA35040,050
        10         20         30         40         50         60 
MEKQPQNSRR GLAPREVPPA VGLLLIMALM NTLLYLCLDH FFIAPRQSTV DPTHCPYGHF 

        70         80         90        100        110        120 
RIGQMKNCSP WLSCEELRTE VRQLKRVGEG AVKRVFLSEW KEHKVALSQL TSLEMKDDFL 

       130        140        150        160        170        180 
HGLQMLKSLQ GTHVVTLLGY CEDDNTMLTE YHPLGSLSNL EETLNLSKYQ NVNTWQHRLE 

       190        200        210        220        230        240 
LAMDYVSIIN YLHHSPVGTR VMCDSNDLPK TLSQYLLTSN FSILANDLDA LPLVNHSSGM 

       250        260        270        280        290        300 
LVKCGHRELH GDFVAPEQLW PYGEDVPFHD DLMPSYDEKI DIWKIPDISS FLLGHIEGSD 

       310        320        330        340        350 
MVRFHLFDIH KACKSQTPSE RPTAQDVLET YQKVLDTLRD AMMSQAREML 

« Hide

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].
[2]"DNA sequence and analysis of human chromosome 8."
Nusbaum C., Mikkelsen T.S., Zody M.C., Asakawa S., Taudien S., Garber M., Kodira C.D., Schueler M.G., Shimizu A., Whittaker C.A., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Yang X., Allen N.R., Anderson S., Asakawa T. expand/collapse author list , Blechschmidt K., Bloom T., Borowsky M.L., Butler J., Cook A., Corum B., DeArellano K., DeCaprio D., Dooley K.T., Dorris L. III, Engels R., Gloeckner G., Hafez N., Hagopian D.S., Hall J.L., Ishikawa S.K., Jaffe D.B., Kamat A., Kudoh J., Lehmann R., Lokitsang T., Macdonald P., Major J.E., Matthews C.D., Mauceli E., Menzel U., Mihalev A.H., Minoshima S., Murayama Y., Naylor J.W., Nicol R., Nguyen C., O'Leary S.B., O'Neill K., Parker S.C.J., Polley A., Raymond C.K., Reichwald K., Rodriguez J., Sasaki T., Schilhabel M., Siddiqui R., Smith C.L., Sneddon T.P., Talamas J.A., Tenzin P., Topham K., Venkataraman V., Wen G., Yamazaki S., Young S.K., Zeng Q., Zimmer A.R., Rosenthal A., Birren B.W., Platzer M., Shimizu N., Lander E.S.
Nature 439:331-335(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]"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].
Tissue: Brain.
[4]"The protein kinase complement of the human genome."
Manning G., Whyte D.B., Martinez R., Hunter T., Sudarsanam S.
Science 298:1912-1934(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION.
[5]"N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB."
Van Damme P., Lasa M., Polevoda B., Gazquez C., Elosegui-Artola A., Kim D.S., De Juan-Pardo E., Demeyer K., Hole K., Larrea E., Timmerman E., Prieto J., Arnesen T., Sherman F., Gevaert K., Aldabe R.
Proc. Natl. Acad. Sci. U.S.A. 109:12449-12454(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT MET-1, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[6]"Patterns of somatic mutation in human cancer genomes."
Greenman C., Stephens P., Smith R., Dalgliesh G.L., Hunter C., Bignell G., Davies H., Teague J., Butler A., Stevens C., Edkins S., O'Meara S., Vastrik I., Schmidt E.E., Avis T., Barthorpe S., Bhamra G., Buck G. expand/collapse author list , Choudhury B., Clements J., Cole J., Dicks E., Forbes S., Gray K., Halliday K., Harrison R., Hills K., Hinton J., Jenkinson A., Jones D., Menzies A., Mironenko T., Perry J., Raine K., Richardson D., Shepherd R., Small A., Tofts C., Varian J., Webb T., West S., Widaa S., Yates A., Cahill D.P., Louis D.N., Goldstraw P., Nicholson A.G., Brasseur F., Looijenga L., Weber B.L., Chiew Y.-E., DeFazio A., Greaves M.F., Green A.R., Campbell P., Birney E., Easton D.F., Chenevix-Trench G., Tan M.-H., Khoo S.K., Teh B.T., Yuen S.T., Leung S.Y., Wooster R., Futreal P.A., Stratton M.R.
Nature 446:153-158(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS [LARGE SCALE ANALYSIS] PRO-48; PHE-140; MET-254; THR-301 AND ILE-342.
[7]"SGK196 is a glycosylation-specific O-mannose kinase required for dystroglycan function."
Yoshida-Moriguchi T., Willer T., Anderson M.E., Venzke D., Whyte T., Muntoni F., Lee H., Nelson S.F., Yu L., Campbell K.P.
Science 341:896-899(2013) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, CATALYTIC ACTIVITY, BIOPHYSICOCHEMICAL PROPERTIES, CHARACTERIZATION OF VARIANT MDDGA12 ARG-137.
[8]"Deciphering the glycosylome of dystroglycanopathies using haploid screens for lassa virus entry."
Jae L.T., Raaben M., Riemersma M., van Beusekom E., Blomen V.A., Velds A., Kerkhoven R.M., Carette J.E., Topaloglu H., Meinecke P., Wessels M.W., Lefeber D.J., Whelan S.P., van Bokhoven H., Brummelkamp T.R.
Science 340:479-483(2013) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS MDDGA12 ARG-137 AND ARG-258, FUNCTION.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AK027009 mRNA. Translation: BAB15623.1.
AC113191 Genomic DNA. No translation available.
BC101548 mRNA. Translation: AAI01549.1.
BC113703 mRNA. Translation: AAI13704.1.
CCDSCCDS6141.1.
RefSeqNP_001264900.1. NM_001277971.1.
NP_115613.1. NM_032237.4.
UniGeneHs.491646.

3D structure databases

ProteinModelPortalQ9H5K3.
SMRQ9H5K3. Positions 75-210.
ModBaseSearch...
MobiDBSearch...

PTM databases

PhosphoSiteQ9H5K3.

Polymorphism databases

DMDM74761446.

Proteomic databases

MaxQBQ9H5K3.
PaxDbQ9H5K3.
PRIDEQ9H5K3.

Protocols and materials databases

DNASU84197.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000331373; ENSP00000331258; ENSG00000185900.
GeneID84197.
KEGGhsa:84197.
UCSCuc003xpw.3. human.

Organism-specific databases

CTD84197.
GeneCardsGC08P042949.
HGNCHGNC:26267. POMK.
HPAHPA013321.
MIM615247. gene.
615249. phenotype.
neXtProtNX_Q9H5K3.
Orphanet899. Walker-Warburg syndrome.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG43701.
HOGENOMHOG000006624.
HOVERGENHBG093945.
InParanoidQ9H5K3.
KOK17547.
OMAKACKSQT.
PhylomeDBQ9H5K3.

Gene expression databases

ArrayExpressQ9H5K3.
BgeeQ9H5K3.
GenevestigatorQ9H5K3.

Family and domain databases

InterProIPR011009. Kinase-like_dom.
IPR000719. Prot_kinase_dom.
IPR001245. Ser-Thr/Tyr_kinase_cat_dom.
[Graphical view]
PfamPF07714. Pkinase_Tyr. 1 hit.
[Graphical view]
SUPFAMSSF56112. SSF56112. 1 hit.
PROSITEPS50011. PROTEIN_KINASE_DOM. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSSGK196. human.
GenomeRNAi84197.
NextBio73604.
PROQ9H5K3.
SOURCESearch...

Entry information

Entry nameSG196_HUMAN
AccessionPrimary (citable) accession number: Q9H5K3
Entry history
Integrated into UniProtKB/Swiss-Prot: November 28, 2006
Last sequence update: March 1, 2001
Last modified: July 9, 2014
This is version 102 of the entry and version 1 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

Human and mouse protein kinases

Human and mouse protein kinases: classification and index

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 8

Human chromosome 8: entries, gene names and cross-references to MIM