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Q9H5K3

- SG196_HUMAN

UniProt

Q9H5K3 - SG196_HUMAN

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Protein

Protein O-mannose kinase

Gene

POMK

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

Functioni

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.2 Publications

Catalytic activityi

ATP + O(3)-(N-acetyl-beta-D-galactosaminyl-(1->3)-N-acetyl-beta-D-glucosaminyl-(1->4)-alpha-D-mannosyl)-L-threonyl/L-seryl-[protein] = ADP + O(3)-(N-acetyl-beta-D-galactosaminyl-(1->3)-N-acetyl-beta-D-glucosaminyl-(1->4)-alpha-D-(6-phospho)mannosyl)-L-threonyl/L-seryl-[protein].1 Publication

Kineticsi

  1. KM=4.1 µM for ATP1 Publication

GO - Molecular functioni

  1. ATP binding Source: UniProtKB-KW
  2. carbohydrate kinase activity Source: Ensembl
  3. phosphotransferase activity, alcohol group as acceptor Source: UniProtKB
  4. protein kinase activity Source: InterPro

GO - Biological processi

  1. brain development Source: UniProtKB
  2. carbohydrate phosphorylation Source: UniProtKB
  3. learning or memory Source: Ensembl
  4. neuromuscular process Source: Ensembl
  5. neuron migration Source: Ensembl
  6. protein O-linked glycosylation Source: UniProtKB
  7. sensory perception of pain Source: Ensembl
Complete GO annotation...

Keywords - Molecular functioni

Kinase, Transferase

Keywords - Ligandi

ATP-binding, Nucleotide-binding

Names & Taxonomyi

Protein namesi
Recommended name:
Protein O-mannose kinase (EC:2.7.1.183)
Short name:
POMK
Alternative name(s):
Protein kinase-like protein SgK196
Sugen kinase 196
Gene namesi
Name:POMK
Synonyms:SGK196
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Unplaced

Organism-specific databases

HGNCiHGNC:26267. POMK.

Subcellular locationi

GO - Cellular componenti

  1. endoplasmic reticulum membrane Source: Ensembl
  2. integral component of membrane Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane

Pathology & Biotechi

Involvement in diseasei

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.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti137 – 1371L → R in MDDGA12; loss of kinase activity. 1 Publication
VAR_069625
Natural varianti258 – 2581Q → R in MDDGA12. 1 Publication
VAR_069626

Keywords - Diseasei

Congenital muscular dystrophy, Disease mutation, Dystroglycanopathy, Lissencephaly

Organism-specific databases

MIMi615249. phenotype.
Orphaneti899. Walker-Warburg syndrome.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 350350Protein O-mannose kinasePRO_0000262996Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei1 – 11N-acetylmethionine1 Publication
Glycosylationi165 – 1651N-linked (GlcNAc...)Sequence Analysis
Glycosylationi220 – 2201N-linked (GlcNAc...)Sequence Analysis
Glycosylationi235 – 2351N-linked (GlcNAc...)Sequence Analysis

Keywords - PTMi

Acetylation, Glycoprotein

Proteomic databases

MaxQBiQ9H5K3.
PaxDbiQ9H5K3.
PRIDEiQ9H5K3.

PTM databases

PhosphoSiteiQ9H5K3.

Expressioni

Gene expression databases

BgeeiQ9H5K3.
ExpressionAtlasiQ9H5K3. baseline and differential.
GenevestigatoriQ9H5K3.

Organism-specific databases

HPAiHPA013321.

Interactioni

Protein-protein interaction databases

BioGridi123942. 55 interactions.

Structurei

3D structure databases

ProteinModelPortaliQ9H5K3.
SMRiQ9H5K3. Positions 75-210.
ModBaseiSearch...
MobiDBiSearch...

Topological domain

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 2020CytoplasmicSequence AnalysisAdd
BLAST
Topological domaini44 – 350307LumenalSequence AnalysisAdd
BLAST

Transmembrane

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei21 – 4323Helical; Signal-anchor for type II membrane proteinSequence AnalysisAdd
BLAST

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini81 – 350270Protein kinasePROSITE-ProRule annotationAdd
BLAST

Sequence similaritiesi

Belongs to the protein kinase superfamily. Ser/Thr protein kinase family. STKL subfamily.PROSITE-ProRule annotation
Contains 1 protein kinase domain.PROSITE-ProRule annotation

Keywords - Domaini

Signal-anchor, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG43701.
GeneTreeiENSGT00390000004945.
HOGENOMiHOG000006624.
HOVERGENiHBG093945.
InParanoidiQ9H5K3.
KOiK17547.
OMAiKACKSQT.
PhylomeDBiQ9H5K3.

Family and domain databases

InterProiIPR011009. Kinase-like_dom.
IPR000719. Prot_kinase_dom.
IPR001245. Ser-Thr/Tyr_kinase_cat_dom.
[Graphical view]
PfamiPF07714. Pkinase_Tyr. 1 hit.
[Graphical view]
SUPFAMiSSF56112. SSF56112. 1 hit.
PROSITEiPS50011. PROTEIN_KINASE_DOM. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q9H5K3-1 [UniParc]FASTAAdd to Basket

« Hide

        10         20         30         40         50
MEKQPQNSRR GLAPREVPPA VGLLLIMALM NTLLYLCLDH FFIAPRQSTV
60 70 80 90 100
DPTHCPYGHF RIGQMKNCSP WLSCEELRTE VRQLKRVGEG AVKRVFLSEW
110 120 130 140 150
KEHKVALSQL TSLEMKDDFL HGLQMLKSLQ GTHVVTLLGY CEDDNTMLTE
160 170 180 190 200
YHPLGSLSNL EETLNLSKYQ NVNTWQHRLE LAMDYVSIIN YLHHSPVGTR
210 220 230 240 250
VMCDSNDLPK TLSQYLLTSN FSILANDLDA LPLVNHSSGM LVKCGHRELH
260 270 280 290 300
GDFVAPEQLW PYGEDVPFHD DLMPSYDEKI DIWKIPDISS FLLGHIEGSD
310 320 330 340 350
MVRFHLFDIH KACKSQTPSE RPTAQDVLET YQKVLDTLRD AMMSQAREML
Length:350
Mass (Da):40,050
Last modified:March 1, 2001 - v1
Checksum:iE074FDB2E5861B0F
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti48 – 481S → P.1 Publication
Corresponds to variant rs34466747 [ dbSNP | Ensembl ].
VAR_041372
Natural varianti137 – 1371L → R in MDDGA12; loss of kinase activity. 1 Publication
VAR_069625
Natural varianti140 – 1401Y → F.1 Publication
Corresponds to variant rs34750053 [ dbSNP | Ensembl ].
VAR_041373
Natural varianti254 – 2541V → M.1 Publication
Corresponds to variant rs34715198 [ dbSNP | Ensembl ].
VAR_041374
Natural varianti258 – 2581Q → R in MDDGA12. 1 Publication
VAR_069626
Natural varianti301 – 3011M → T.1 Publication
Corresponds to variant rs33920561 [ dbSNP | Ensembl ].
VAR_041375
Natural varianti342 – 3421M → I in a lung small cell carcinoma sample; somatic mutation. 1 Publication
VAR_041376

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AK027009 mRNA. Translation: BAB15623.1.
AC113191 Genomic DNA. No translation available.
BC101548 mRNA. Translation: AAI01549.1.
BC113703 mRNA. Translation: AAI13704.1.
CCDSiCCDS6141.1.
RefSeqiNP_001264900.1. NM_001277971.1.
NP_115613.1. NM_032237.4.
UniGeneiHs.491646.

Genome annotation databases

EnsembliENST00000331373; ENSP00000331258; ENSG00000185900.
ENST00000614426; ENSP00000478821; ENSG00000185900.
GeneIDi84197.
KEGGihsa:84197.
UCSCiuc003xpw.3. human.

Polymorphism databases

DMDMi74761446.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AK027009 mRNA. Translation: BAB15623.1 .
AC113191 Genomic DNA. No translation available.
BC101548 mRNA. Translation: AAI01549.1 .
BC113703 mRNA. Translation: AAI13704.1 .
CCDSi CCDS6141.1.
RefSeqi NP_001264900.1. NM_001277971.1.
NP_115613.1. NM_032237.4.
UniGenei Hs.491646.

3D structure databases

ProteinModelPortali Q9H5K3.
SMRi Q9H5K3. Positions 75-210.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 123942. 55 interactions.

PTM databases

PhosphoSitei Q9H5K3.

Polymorphism databases

DMDMi 74761446.

Proteomic databases

MaxQBi Q9H5K3.
PaxDbi Q9H5K3.
PRIDEi Q9H5K3.

Protocols and materials databases

DNASUi 84197.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000331373 ; ENSP00000331258 ; ENSG00000185900 .
ENST00000614426 ; ENSP00000478821 ; ENSG00000185900 .
GeneIDi 84197.
KEGGi hsa:84197.
UCSCi uc003xpw.3. human.

Organism-specific databases

CTDi 84197.
GeneCardsi GC08P042949.
HGNCi HGNC:26267. POMK.
HPAi HPA013321.
MIMi 615247. gene.
615249. phenotype.
neXtProti NX_Q9H5K3.
Orphaneti 899. Walker-Warburg syndrome.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG43701.
GeneTreei ENSGT00390000004945.
HOGENOMi HOG000006624.
HOVERGENi HBG093945.
InParanoidi Q9H5K3.
KOi K17547.
OMAi KACKSQT.
PhylomeDBi Q9H5K3.

Miscellaneous databases

ChiTaRSi SGK196. human.
GenomeRNAii 84197.
NextBioi 73604.
PROi Q9H5K3.
SOURCEi Search...

Gene expression databases

Bgeei Q9H5K3.
ExpressionAtlasi Q9H5K3. baseline and differential.
Genevestigatori Q9H5K3.

Family and domain databases

InterProi IPR011009. Kinase-like_dom.
IPR000719. Prot_kinase_dom.
IPR001245. Ser-Thr/Tyr_kinase_cat_dom.
[Graphical view ]
Pfami PF07714. Pkinase_Tyr. 1 hit.
[Graphical view ]
SUPFAMi SSF56112. SSF56112. 1 hit.
PROSITEi PS50011. PROTEIN_KINASE_DOM. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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.
    , 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.
    , 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. Cited for: IDENTIFICATION.
  5. 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.
    , 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. Cited for: VARIANTS MDDGA12 ARG-137 AND ARG-258, FUNCTION.

Entry informationi

Entry nameiSG196_HUMAN
AccessioniPrimary (citable) accession number: Q9H5K3
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 28, 2006
Last sequence update: March 1, 2001
Last modified: October 29, 2014
This is version 104 of the entry and version 1 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

Caution

Although related to the Ser/Thr protein kinase family, has no protein kinase activity and acts as a mannose kinase instead.1 Publication

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 8
    Human chromosome 8: 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. Human and mouse protein kinases
    Human and mouse protein kinases: classification and index
  6. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3