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Protein

Extracellular serine/threonine protein kinase FAM20C

Gene

FAM20C

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

Functioni

Golgi serine/threonine protein kinase that phosphorylates secretory pathway proteins within Ser-x-Glu/pSer motifs and plays a key role in biomineralization of bones and teeth (PubMed:22582013, PubMed:23754375, PubMed:25789606). Phosphorylates casein as well as a number of proteins involved in biomineralization such as AMELX, AMTN, ENAM and SPP1 (PubMed:22582013, PubMed:25789606).3 Publications

Catalytic activityi

ATP + a protein = ADP + a phosphoprotein.3 Publications

Cofactori

Mn2+1 Publication1 Publication

Enzyme regulationi

Serine/threonine protein kinase activity is increased upon interaction with FAM20A.1 Publication

Kineticsi

  1. KM=0.8 µM for manganese/ATP1 Publication

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Binding sitei269 – 2691ATP; via amide nitrogenBy similarity
    Binding sitei285 – 2851ATPBy similarity
    Metal bindingi306 – 3061ManganeseBy similarity
    Binding sitei306 – 3061ATPBy similarity
    Active sitei458 – 45811 Publication
    Binding sitei463 – 4631ATPBy similarity
    Metal bindingi478 – 4781Manganese1 Publication
    Binding sitei478 – 4781ATPBy similarity

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Nucleotide bindingi389 – 3924ATPBy similarity

    GO - Molecular functioni

    • calcium ion binding Source: Ensembl
    • protein serine/threonine kinase activity Source: UniProtKB

    GO - Biological processi

    Complete GO annotation...

    Keywords - Molecular functioni

    Kinase, Serine/threonine-protein kinase, Transferase

    Keywords - Biological processi

    Biomineralization

    Keywords - Ligandi

    ATP-binding, Calcium, Manganese, Metal-binding, Nucleotide-binding

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Extracellular serine/threonine protein kinase FAM20CCurated (EC:2.7.11.13 Publications)
    Alternative name(s):
    Dentin matrix protein 4By similarity
    Short name:
    DMP-4By similarity
    Golgi casein kinase1 Publication
    Golgi-enriched fraction casein kinase1 Publication
    Short name:
    GEF-CK1 Publication
    Gene namesi
    Name:FAM20CImported
    Synonyms:DMP4By similarity
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640 Componenti: Chromosome 7

    Organism-specific databases

    HGNCiHGNC:22140. FAM20C.

    Subcellular locationi

    • Secreted By similarity
    • Golgi apparatus By similarity

    GO - Cellular componenti

    • extracellular exosome Source: UniProtKB
    • extracellular space Source: UniProtKB
    • Golgi apparatus Source: UniProtKB
    Complete GO annotation...

    Keywords - Cellular componenti

    Golgi apparatus, Secreted

    Pathology & Biotechi

    Involvement in diseasei

    Raine syndrome (RNS)3 Publications

    The disease is caused by mutations affecting the gene represented in this entry.

    Disease descriptionAutosomal recessive osteosclerotic bone dysplasia with neonatal lethal outcome. Clinical features include generalized osteosclerosis, craniofacial dysplasia and microcephaly.

    See also OMIM:259775
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti258 – 2581I → N in RNS. 1 Publication
    VAR_073660
    Natural varianti268 – 2681T → M in RNS; mild non-lethal form; decreased protein kinase activity. 1 Publication
    VAR_073661
    Natural varianti280 – 2801G → R in RNS. 1 Publication
    VAR_073662
    Natural varianti328 – 3281P → S in RNS; mild non-lethal form; decreased protein kinase activity; FAM20A is still able to increase remaining protein kinase activity. 2 Publications
    VAR_073663
    Natural varianti379 – 3791G → E in RNS. 2 Publications
    VAR_037530
    Natural varianti379 – 3791G → R in RNS. 2 Publications
    VAR_037531
    Natural varianti388 – 3881L → R in RNS. 2 Publications
    VAR_037532
    Natural varianti451 – 4511D → N in RNS; mild non-lethal form; decreased protein kinase activity. 1 Publication
    VAR_073664
    Natural varianti549 – 5491R → W in RNS. 2 Publications
    VAR_037533

    Mutagenesis

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Mutagenesisi271 – 2711K → A: Reduced kinase activity. 1 Publication
    Mutagenesisi285 – 2851K → A: Reduced kinase activity. 1 Publication
    Mutagenesisi306 – 3061E → A or Q: Strongly reduced kinase activity. 2 Publications
    Mutagenesisi311 – 3111E → A: Reduced kinase activity. 1 Publication
    Mutagenesisi408 – 4081R → A: Reduced kinase activity. 1 Publication
    Mutagenesisi458 – 4581D → A: Abrogates kinase activity. 1 Publication
    Mutagenesisi478 – 4781D → A: Unable to bind manganese; abrogates kinase activity. 3 Publications

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

    MIMi259775. phenotype.
    Orphaneti1832. Lethal osteosclerotic bone dysplasia.
    PharmGKBiPA134898453.

    Polymorphism and mutation databases

    BioMutaiFAM20C.
    DMDMi327478506.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Signal peptidei1 – 2222Sequence AnalysisAdd
    BLAST
    Chaini23 – 584562Extracellular serine/threonine protein kinase FAM20CPRO_0000008747Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi101 – 1011N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi335 – 3351N-linked (GlcNAc...)Sequence Analysis
    Disulfide bondi362 ↔ 378By similarity
    Disulfide bondi367 ↔ 371By similarity
    Disulfide bondi426 ↔ 500By similarity
    Glycosylationi470 – 4701N-linked (GlcNAc...)1 Publication
    Disulfide bondi501 ↔ 560By similarity

    Keywords - PTMi

    Disulfide bond, Glycoprotein

    Proteomic databases

    MaxQBiQ8IXL6.
    PaxDbiQ8IXL6.
    PRIDEiQ8IXL6.

    PTM databases

    PhosphoSiteiQ8IXL6.

    Expressioni

    Tissue specificityi

    Widely expressed.1 Publication

    Gene expression databases

    BgeeiQ8IXL6.
    CleanExiHS_FAM20C.
    GenevisibleiQ8IXL6. HS.

    Organism-specific databases

    HPAiHPA019823.

    Interactioni

    Subunit structurei

    Interacts with FAM20A; probably forming a heterotetramer of 2 subunits of FAM20A and 2 subunits of FAM20C.1 Publication

    Protein-protein interaction databases

    BioGridi121294. 7 interactions.
    IntActiQ8IXL6. 8 interactions.
    MINTiMINT-6940404.
    STRINGi9606.ENSP00000322323.

    Structurei

    3D structure databases

    ProteinModelPortaliQ8IXL6.
    SMRiQ8IXL6. Positions 225-570.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni354 – 565212Kinase domainAdd
    BLAST

    Sequence similaritiesi

    Belongs to the FAM20 family.Curated

    Keywords - Domaini

    Signal

    Phylogenomic databases

    eggNOGiNOG238678.
    GeneTreeiENSGT00390000007484.
    HOGENOMiHOG000231437.
    HOVERGENiHBG051635.
    InParanoidiQ8IXL6.
    OMAiHRILDVM.
    OrthoDBiEOG7JX33T.
    PhylomeDBiQ8IXL6.
    TreeFamiTF313276.

    Family and domain databases

    InterProiIPR009581. DUF1193.
    IPR024869. FAM20.
    [Graphical view]
    PANTHERiPTHR12450. PTHR12450. 1 hit.
    PfamiPF06702. DUF1193. 1 hit.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    Sequence processingi: The displayed sequence is further processed into a mature form.

    This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

    Isoform 1 (identifier: Q8IXL6-1) [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
    MKMMLVRRFR VLILMVFLVA CALHIALDLL PRLERRGARP SGEPGCSCAQ
    60 70 80 90 100
    PAAEVAAPGW AQVRGRPGEP PAASSAAGDA GWPNKHTLRI LQDFSSDPSS
    110 120 130 140 150
    NLSSHSLEKL PPAAEPAERA LRGRDPGALR PHDPAHRPLL RDPGPRRSES
    160 170 180 190 200
    PPGPGGDASL LARLFEHPLY RVAVPPLTEE DVLFNVNSDT RLSPKAAENP
    210 220 230 240 250
    DWPHAGAEGA EFLSPGEAAV DSYPNWLKFH IGINRYELYS RHNPAIEALL
    260 270 280 290 300
    HDLSSQRITS VAMKSGGTQL KLIMTFQNYG QALFKPMKQT REQETPPDFF
    310 320 330 340 350
    YFSDYERHNA EIAAFHLDRI LDFRRVPPVA GRMVNMTKEI RDVTRDKKLW
    360 370 380 390 400
    RTFFISPANN ICFYGECSYY CSTEHALCGK PDQIEGSLAA FLPDLSLAKR
    410 420 430 440 450
    KTWRNPWRRS YHKRKKAEWE VDPDYCEEVK QTPPYDSSHR ILDVMDMTIF
    460 470 480 490 500
    DFLMGNMDRH HYETFEKFGN ETFIIHLDNG RGFGKYSHDE LSILVPLQQC
    510 520 530 540 550
    CRIRKSTYLR LQLLAKEEYK LSLLMAESLR GDQVAPVLYQ PHLEALDRRL
    560 570 580
    RVVLKAVRDC VERNGLHSVV DDDLDTEHRA ASAR
    Length:584
    Mass (Da):66,234
    Last modified:April 5, 2011 - v2
    Checksum:iECD278B5EA681FEF
    GO
    Isoform 2 (identifier: Q8IXL6-2) [UniParc]FASTAAdd to basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-332: Missing.

    Note: No experimental confirmation available.
    Show »
    Length:252
    Mass (Da):29,597
    Checksum:i7A3BDDE01D86D870
    GO

    Sequence cautioni

    The sequence AAH40074.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
    The sequence EAL23705.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti274 – 28815MTFQN…FKPMK → FLSDKPFLFLSCFLR in CAB99089 (PubMed:17974005).CuratedAdd
    BLAST
    Sequence conflicti564 – 5641N → D in AAH87853 (PubMed:15489334).Curated
    Sequence conflicti564 – 5641N → D in CAB99089 (PubMed:17974005).Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti258 – 2581I → N in RNS. 1 Publication
    VAR_073660
    Natural varianti268 – 2681T → M in RNS; mild non-lethal form; decreased protein kinase activity. 1 Publication
    VAR_073661
    Natural varianti280 – 2801G → R in RNS. 1 Publication
    VAR_073662
    Natural varianti328 – 3281P → S in RNS; mild non-lethal form; decreased protein kinase activity; FAM20A is still able to increase remaining protein kinase activity. 2 Publications
    VAR_073663
    Natural varianti379 – 3791G → E in RNS. 2 Publications
    VAR_037530
    Natural varianti379 – 3791G → R in RNS. 2 Publications
    VAR_037531
    Natural varianti388 – 3881L → R in RNS. 2 Publications
    VAR_037532
    Natural varianti451 – 4511D → N in RNS; mild non-lethal form; decreased protein kinase activity. 1 Publication
    VAR_073664
    Natural varianti549 – 5491R → W in RNS. 2 Publications
    VAR_037533

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 332332Missing in isoform 2. 1 PublicationVSP_040834Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBLi
    GenBanki
    DDBJi
    Links Updated
    AF533706 mRNA. Translation: AAQ09019.1.
    AB545605 mRNA. Translation: BAM78534.1.
    AC093627 Genomic DNA. No translation available.
    AC145676 Genomic DNA. No translation available.
    AC187652 Genomic DNA. No translation available.
    CH236966 Genomic DNA. Translation: EAL23705.1. Different initiation.
    CH471144 Genomic DNA. Translation: EAW87149.1.
    BC040074 mRNA. Translation: AAH40074.1. Different initiation.
    BC087853 mRNA. Translation: AAH87853.1.
    AL390147 mRNA. Translation: CAB99089.2.
    CCDSiCCDS47522.1. [Q8IXL6-1]
    PIRiT51872.
    RefSeqiNP_064608.2. NM_020223.3. [Q8IXL6-1]
    UniGeneiHs.134742.
    Hs.733582.

    Genome annotation databases

    EnsembliENST00000313766; ENSP00000322323; ENSG00000177706.
    GeneIDi56975.
    KEGGihsa:56975.
    UCSCiuc003sip.3. human. [Q8IXL6-1]
    uc011jvn.2. human. [Q8IXL6-2]

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBLi
    GenBanki
    DDBJi
    Links Updated
    AF533706 mRNA. Translation: AAQ09019.1.
    AB545605 mRNA. Translation: BAM78534.1.
    AC093627 Genomic DNA. No translation available.
    AC145676 Genomic DNA. No translation available.
    AC187652 Genomic DNA. No translation available.
    CH236966 Genomic DNA. Translation: EAL23705.1. Different initiation.
    CH471144 Genomic DNA. Translation: EAW87149.1.
    BC040074 mRNA. Translation: AAH40074.1. Different initiation.
    BC087853 mRNA. Translation: AAH87853.1.
    AL390147 mRNA. Translation: CAB99089.2.
    CCDSiCCDS47522.1. [Q8IXL6-1]
    PIRiT51872.
    RefSeqiNP_064608.2. NM_020223.3. [Q8IXL6-1]
    UniGeneiHs.134742.
    Hs.733582.

    3D structure databases

    ProteinModelPortaliQ8IXL6.
    SMRiQ8IXL6. Positions 225-570.
    ModBaseiSearch...
    MobiDBiSearch...

    Protein-protein interaction databases

    BioGridi121294. 7 interactions.
    IntActiQ8IXL6. 8 interactions.
    MINTiMINT-6940404.
    STRINGi9606.ENSP00000322323.

    PTM databases

    PhosphoSiteiQ8IXL6.

    Polymorphism and mutation databases

    BioMutaiFAM20C.
    DMDMi327478506.

    Proteomic databases

    MaxQBiQ8IXL6.
    PaxDbiQ8IXL6.
    PRIDEiQ8IXL6.

    Protocols and materials databases

    Structural Biology KnowledgebaseSearch...

    Genome annotation databases

    EnsembliENST00000313766; ENSP00000322323; ENSG00000177706.
    GeneIDi56975.
    KEGGihsa:56975.
    UCSCiuc003sip.3. human. [Q8IXL6-1]
    uc011jvn.2. human. [Q8IXL6-2]

    Organism-specific databases

    CTDi56975.
    GeneCardsiGC07P000290.
    H-InvDBHIX0019573.
    HGNCiHGNC:22140. FAM20C.
    HPAiHPA019823.
    MIMi259775. phenotype.
    611061. gene.
    neXtProtiNX_Q8IXL6.
    Orphaneti1832. Lethal osteosclerotic bone dysplasia.
    PharmGKBiPA134898453.
    GenAtlasiSearch...

    Phylogenomic databases

    eggNOGiNOG238678.
    GeneTreeiENSGT00390000007484.
    HOGENOMiHOG000231437.
    HOVERGENiHBG051635.
    InParanoidiQ8IXL6.
    OMAiHRILDVM.
    OrthoDBiEOG7JX33T.
    PhylomeDBiQ8IXL6.
    TreeFamiTF313276.

    Miscellaneous databases

    GeneWikiiFAM20C.
    GenomeRNAii56975.
    NextBioi62625.
    PROiQ8IXL6.
    SOURCEiSearch...

    Gene expression databases

    BgeeiQ8IXL6.
    CleanExiHS_FAM20C.
    GenevisibleiQ8IXL6. HS.

    Family and domain databases

    InterProiIPR009581. DUF1193.
    IPR024869. FAM20.
    [Graphical view]
    PANTHERiPTHR12450. PTHR12450. 1 hit.
    PfamiPF06702. DUF1193. 1 hit.
    [Graphical view]
    ProtoNetiSearch...

    Publicationsi

    « Hide 'large scale' publications
    1. Wu C., Ding P., Han W., Rui M., Wang Y., Song Q., Ma D.
      Submitted (JUL-2002) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
      Tissue: Brain.
    2. "Molecular cloning and characterization of a novel xylosylkinase."
      Kitagawa H., Izumikawa T., Koike T.
      Submitted (FEB-2010) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    3. "The DNA sequence of human chromosome 7."
      Hillier L.W., Fulton R.S., Fulton L.A., Graves T.A., Pepin K.H., Wagner-McPherson C., Layman D., Maas J., Jaeger S., Walker R., Wylie K., Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E., Fewell G.A., Delehaunty K.D., Miner T.L.
      , Nash W.E., Cordes M., Du H., Sun H., Edwards J., Bradshaw-Cordum H., Ali J., Andrews S., Isak A., Vanbrunt A., Nguyen C., Du F., Lamar B., Courtney L., Kalicki J., Ozersky P., Bielicki L., Scott K., Holmes A., Harkins R., Harris A., Strong C.M., Hou S., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Leonard S., Rohlfing T., Rock S.M., Tin-Wollam A.-M., Abbott A., Minx P., Maupin R., Strowmatt C., Latreille P., Miller N., Johnson D., Murray J., Woessner J.P., Wendl M.C., Yang S.-P., Schultz B.R., Wallis J.W., Spieth J., Bieri T.A., Nelson J.O., Berkowicz N., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Bedell J.A., Mardis E.R., Clifton S.W., Chissoe S.L., Marra M.A., Raymond C., Haugen E., Gillett W., Zhou Y., James R., Phelps K., Iadanoto S., Bubb K., Simms E., Levy R., Clendenning J., Kaul R., Kent W.J., Furey T.S., Baertsch R.A., Brent M.R., Keibler E., Flicek P., Bork P., Suyama M., Bailey J.A., Portnoy M.E., Torrents D., Chinwalla A.T., Gish W.R., Eddy S.R., McPherson J.D., Olson M.V., Eichler E.E., Green E.D., Waterston R.H., Wilson R.K.
      Nature 424:157-164(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. "Human chromosome 7: DNA sequence and biology."
      Scherer S.W., Cheung J., MacDonald J.R., Osborne L.R., Nakabayashi K., Herbrick J.-A., Carson A.R., Parker-Katiraee L., Skaug J., Khaja R., Zhang J., Hudek A.K., Li M., Haddad M., Duggan G.E., Fernandez B.A., Kanematsu E., Gentles S.
      , Christopoulos C.C., Choufani S., Kwasnicka D., Zheng X.H., Lai Z., Nusskern D.R., Zhang Q., Gu Z., Lu F., Zeesman S., Nowaczyk M.J., Teshima I., Chitayat D., Shuman C., Weksberg R., Zackai E.H., Grebe T.A., Cox S.R., Kirkpatrick S.J., Rahman N., Friedman J.M., Heng H.H.Q., Pelicci P.G., Lo-Coco F., Belloni E., Shaffer L.G., Pober B., Morton C.C., Gusella J.F., Bruns G.A.P., Korf B.R., Quade B.J., Ligon A.H., Ferguson H., Higgins A.W., Leach N.T., Herrick S.R., Lemyre E., Farra C.G., Kim H.-G., Summers A.M., Gripp K.W., Roberts W., Szatmari P., Winsor E.J.T., Grzeschik K.-H., Teebi A., Minassian B.A., Kere J., Armengol L., Pujana M.A., Estivill X., Wilson M.D., Koop B.F., Tosi S., Moore G.E., Boright A.P., Zlotorynski E., Kerem B., Kroisel P.M., Petek E., Oscier D.G., Mould S.J., Doehner H., Doehner K., Rommens J.M., Vincent J.B., Venter J.C., Li P.W., Mural R.J., Adams M.D., Tsui L.-C.
      Science 300:767-772(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. "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: Brain.
    6. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
      Tissue: Brain.
    7. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    8. "FAM20: an evolutionarily conserved family of secreted proteins expressed in hematopoietic cells."
      Nalbant D., Youn H., Nalbant S.I., Sharma S., Cobos E., Beale E.G., Du Y., Williams S.C.
      BMC Genomics 6:11-11(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: TISSUE SPECIFICITY.
    9. "Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry."
      Chen R., Jiang X., Sun D., Han G., Wang F., Ye M., Wang L., Zou H.
      J. Proteome Res. 8:651-661(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-470.
      Tissue: Liver.
    10. "Secreted kinase phosphorylates extracellular proteins that regulate biomineralization."
      Tagliabracci V.S., Engel J.L., Wen J., Wiley S.E., Worby C.A., Kinch L.N., Xiao J., Grishin N.V., Dixon J.E.
      Science 336:1150-1153(2012) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, CATALYTIC ACTIVITY, MANGANESE-BINDING, MUTAGENESIS OF ASP-478, VARIANTS RNS ASN-258; ARG-280; SER-328; ARG-379; GLU-379; ARG-388; ASN-451 AND TRP-549, CHARACTERIZATION OF VARIANTS RNS SER-328 AND ASN-451.
    11. Cited for: FUNCTION, CATALYTIC ACTIVITY, BIOPHYSICOCHEMICAL PROPERTIES, COFACTOR, ACTIVE SITE, MUTAGENESIS OF LYS-271; LYS-285; GLU-306; GLU-311; ARG-408; ASP-458 AND ASP-458.
    12. "A secretory kinase complex regulates extracellular protein phosphorylation."
      Cui J., Xiao J., Tagliabracci V.S., Wen J., Rahdar M., Dixon J.E.
      Elife 4:0-0(2015) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, CATALYTIC ACTIVITY, ENZYME REGULATION, INTERACTION WITH FAM20A, MUTAGENESIS OF GLU-306 AND ASP-478, VARIANTS RNS MET-268 AND SER-328, CHARACTERIZATION OF VARIANTS RNS MET-268 AND SER-328.
    13. "Mutations in FAM20C are associated with lethal osteosclerotic bone dysplasia (Raine syndrome), highlighting a crucial molecule in bone development."
      Simpson M.A., Hsu R., Keir L.S., Hao J., Sivapalan G., Ernst L.M., Zackai E.H., Al-Gazali L.I., Hulskamp G., Kingston H.M., Prescott T.E., Ion A., Patton M.A., Murday V., George A., Crosby A.H.
      Am. J. Hum. Genet. 81:906-912(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS RNS ARG-379; GLU-379; ARG-388 AND TRP-549.

    Entry informationi

    Entry nameiFA20C_HUMAN
    AccessioniPrimary (citable) accession number: Q8IXL6
    Secondary accession number(s): A4D2Q5
    , L8B5W8, Q5I0W9, Q7Z4I0, Q9NPT2
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: September 19, 2003
    Last sequence update: April 5, 2011
    Last modified: July 22, 2015
    This is version 103 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 7
      Human chromosome 7: 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

    External Data

    Dasty 3

    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 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.