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Protein

Pseudokinase FAM20A

Gene

FAM20A

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

Functioni

Pseudokinase that acts as an allosteric activator of the Golgi serine/threonine protein kinase FAM20C and is involved in biomineralization of teeth. Forms a complex with FAM20C and increases the ability of FAM20C to phosphorylate the proteins that form the 'matrix' that guides the deposition of the enamel minerals.1 Publication

Caution

Although strongly related to other members of the family, lacks the kinase activity. A conserved Asp/Glu residue present in other members of the family, which coordinates the Mn2+ ion and the ion-pair Lys and is indispensable for kinase activity, is replaced by a Gln in position 258.1 Publication

GO - Molecular functioni

  • protein serine/threonine kinase activator activity Source: UniProtKB

GO - Biological processi

  • biomineral tissue development Source: UniProtKB
  • calcium ion homeostasis Source: UniProtKB
  • enamel mineralization Source: UniProtKB
  • positive regulation of protein phosphorylation Source: UniProtKB
  • tooth eruption Source: UniProtKB

Keywordsi

Biological processBiomineralization

Enzyme and pathway databases

ReactomeiR-HSA-381426 Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
R-HSA-8957275 Post-translational protein phosphorylation

Names & Taxonomyi

Protein namesi
Recommended name:
Pseudokinase FAM20ACurated
Gene namesi
Name:FAM20AImported
ORF Names:UNQ9388/PRO342791 Publication
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 17

Organism-specific databases

EuPathDBiHostDB:ENSG00000108950.11
HGNCiHGNC:23015 FAM20A
MIMi611062 gene
neXtProtiNX_Q96MK3

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Endoplasmic reticulum, Golgi apparatus, Secreted

Pathology & Biotechi

Involvement in diseasei

Amelogenesis imperfecta 1G (AI1G)11 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder characterized by dental anomalies, gingival overgrowth, and nephrocalcinosis. Dental anomalies include hypoplastic amelogenesis imperfecta, intrapulpal calcifications, delay of tooth eruption, hypodontia/oligodontia, pericoronal radiolucencies and unerupted teeth.
See also OMIM:204690
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_072170173L → R in AI1G; impaired folding of the protein; abolishes ability to activate FAM20C protein kinase activity. 2 Publications1
Natural variantiVAR_066859197 – 214DYSQD…DCTQI → V in AI1G. 1 PublicationAdd BLAST18
Natural variantiVAR_072171331G → D in AI1G; impaired folding of the protein; abolishes ability to activate FAM20C protein kinase activity. 2 PublicationsCorresponds to variant dbSNP:rs981673034Ensembl.1
Natural variantiVAR_072172403D → N in AI1G; impaired folding of the protein; abolishes ability to activate FAM20C protein kinase activity. 2 PublicationsCorresponds to variant dbSNP:rs377432171Ensembl.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi258Q → E: Able to hydrolyze ATP and display some protein kinase activity. 1 Publication1

Keywords - Diseasei

Amelogenesis imperfecta, Disease mutation

Organism-specific databases

DisGeNETi54757
MalaCardsiFAM20A
MIMi204690 phenotype
OpenTargetsiENSG00000108950
Orphaneti1031 Amelogenesis imperfecta - nephrocalcinosis
171836 Amelogenesis imperfecta and gingival hyperplasia syndrome
PharmGKBiPA134888583

Polymorphism and mutation databases

BioMutaiFAM20A
DMDMi269849750

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 33Sequence analysisAdd BLAST33
ChainiPRO_000000874334 – 541Pseudokinase FAM20AAdd BLAST508

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi70N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi145N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi287N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi314 ↔ 330By similarity
Disulfide bondi319 ↔ 323By similarity
Disulfide bondi378 ↔ 452By similarity
Glycosylationi388N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi453 ↔ 512By similarity
Glycosylationi538N-linked (GlcNAc...) asparagineSequence analysis1

Post-translational modificationi

N-glycosylated.By similarity

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

PaxDbiQ96MK3
PeptideAtlasiQ96MK3
PRIDEiQ96MK3
ProteomicsDBi77370

PTM databases

iPTMnetiQ96MK3
PhosphoSitePlusiQ96MK3

Expressioni

Tissue specificityi

Highly expressed in lung and liver. Intermediate levels in thymus and ovary.1 Publication

Gene expression databases

BgeeiENSG00000108950
CleanExiHS_FAM20A
ExpressionAtlasiQ96MK3 baseline and differential
GenevisibleiQ96MK3 HS

Organism-specific databases

HPAiHPA048964

Interactioni

Subunit structurei

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

Binary interactionsi

WithEntry#Exp.IntActNotes
FAM20CQ8IXL63EBI-11892970,EBI-7147442

Protein-protein interaction databases

IntActiQ96MK3, 5 interactors
STRINGi9606.ENSP00000468308

Structurei

Secondary structure

1541
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi91 – 97Combined sources7
Helixi99 – 102Combined sources4
Turni112 – 114Combined sources3
Beta strandi115 – 117Combined sources3
Helixi119 – 143Combined sources25
Helixi160 – 167Combined sources8
Beta strandi172 – 174Combined sources3
Helixi179 – 190Combined sources12
Beta strandi193 – 198Combined sources6
Helixi200 – 203Combined sources4
Beta strandi206 – 208Combined sources3
Turni212 – 214Combined sources3
Beta strandi220 – 222Combined sources3
Beta strandi224 – 228Combined sources5
Beta strandi233 – 238Combined sources6
Helixi244 – 246Combined sources3
Helixi252 – 254Combined sources3
Helixi259 – 272Combined sources14
Beta strandi281 – 287Combined sources7
Helixi288 – 291Combined sources4
Turni292 – 295Combined sources4
Helixi299 – 303Combined sources5
Beta strandi305 – 307Combined sources3
Beta strandi313 – 316Combined sources4
Helixi318 – 322Combined sources5
Beta strandi328 – 330Combined sources3
Beta strandi332 – 342Combined sources11
Turni347 – 349Combined sources3
Beta strandi352 – 356Combined sources5
Beta strandi364 – 366Combined sources3
Turni371 – 373Combined sources3
Helixi376 – 381Combined sources6
Turni385 – 388Combined sources4
Helixi390 – 406Combined sources17
Beta strandi413 – 417Combined sources5
Helixi418 – 420Combined sources3
Beta strandi434 – 436Combined sources3
Helixi443 – 446Combined sources4
Helixi447 – 452Combined sources6
Helixi457 – 466Combined sources10
Helixi469 – 471Combined sources3
Helixi473 – 481Combined sources9
Turni485 – 488Combined sources4
Helixi492 – 516Combined sources25
Helixi518 – 521Combined sources4

3D structure databases

ProteinModelPortaliQ96MK3
SMRiQ96MK3
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the FAM20 family.Curated

Keywords - Domaini

Signal

Phylogenomic databases

eggNOGiKOG3829 Eukaryota
ENOG410XQEJ LUCA
GeneTreeiENSGT00390000007484
HOGENOMiHOG000231437
HOVERGENiHBG051635
InParanoidiQ96MK3
KOiK21957
OMAiEASWVQF
OrthoDBiEOG091G1BEO
PhylomeDBiQ96MK3

Family and domain databases

InterProiView protein in InterPro
IPR024869 FAM20
IPR009581 FAM20_C
PANTHERiPTHR12450 PTHR12450, 1 hit
PfamiView protein in Pfam
PF06702 Fam20C, 1 hit

Sequencei

Sequence statusi: Complete.

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

Q96MK3-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MPGLRRDRLL TLLLLGALLS ADLYFHLWPQ VQRQLRPRER PRGCPCTGRA
60 70 80 90 100
SSLARDSAAA ASDPGTIVHN FSRTEPRTEP AGGSHSGSSS KLQALFAHPL
110 120 130 140 150
YNVPEEPPLL GAEDSLLASQ EALRYYRRKV ARWNRRHKMY REQMNLTSLD
160 170 180 190 200
PPLQLRLEAS WVQFHLGINR HGLYSRSSPV VSKLLQDMRH FPTISADYSQ
210 220 230 240 250
DEKALLGACD CTQIVKPSGV HLKLVLRFSD FGKAMFKPMR QQRDEETPVD
260 270 280 290 300
FFYFIDFQRH NAEIAAFHLD RILDFRRVPP TVGRIVNVTK EILEVTKNEI
310 320 330 340 350
LQSVFFVSPA SNVCFFAKCP YMCKTEYAVC GNPHLLEGSL SAFLPSLNLA
360 370 380 390 400
PRLSVPNPWI RSYTLAGKEE WEVNPLYCDT VKQIYPYNNS QRLLNVIDMA
410 420 430 440 450
IFDFLIGNMD RHHYEMFTKF GDDGFLIHLD NARGFGRHSH DEISILSPLS
460 470 480 490 500
QCCMIKKKTL LHLQLLAQAD YRLSDVMRES LLEDQLSPVL TEPHLLALDR
510 520 530 540
RLQTILRTVE GCIVAHGQQS VIVDGPVEQL APDSGQANLT S
Length:541
Mass (Da):61,417
Last modified:November 24, 2009 - v4
Checksum:iB44A4655996279A1
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_072170173L → R in AI1G; impaired folding of the protein; abolishes ability to activate FAM20C protein kinase activity. 2 Publications1
Natural variantiVAR_066859197 – 214DYSQD…DCTQI → V in AI1G. 1 PublicationAdd BLAST18
Natural variantiVAR_072171331G → D in AI1G; impaired folding of the protein; abolishes ability to activate FAM20C protein kinase activity. 2 PublicationsCorresponds to variant dbSNP:rs981673034Ensembl.1
Natural variantiVAR_059282332N → K3 PublicationsCorresponds to variant dbSNP:rs2302234EnsemblClinVar.1
Natural variantiVAR_072172403D → N in AI1G; impaired folding of the protein; abolishes ability to activate FAM20C protein kinase activity. 2 PublicationsCorresponds to variant dbSNP:rs377432171Ensembl.1
Natural variantiVAR_059283530L → S4 PublicationsCorresponds to variant dbSNP:rs2907373EnsemblClinVar.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK056789 mRNA Translation: BAB71285.1
AY358197 mRNA Translation: AAQ88564.1
AC079210 Genomic DNA No translation available.
BC136686 mRNA Translation: AAI36687.1
BC136689 mRNA Translation: AAI36690.1
AL133105 mRNA Translation: CAB61412.1
CCDSiCCDS11679.1
PIRiT42684
RefSeqiNP_001230675.1, NM_001243746.1
NP_060035.2, NM_017565.3
UniGeneiHs.268874

Genome annotation databases

EnsembliENST00000592554; ENSP00000468308; ENSG00000108950
GeneIDi54757
KEGGihsa:54757
UCSCiuc002jho.4 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiFA20A_HUMAN
AccessioniPrimary (citable) accession number: Q96MK3
Secondary accession number(s): B2RN47, B2RN49, Q9UF95
Entry historyiIntegrated into UniProtKB/Swiss-Prot: September 19, 2003
Last sequence update: November 24, 2009
Last modified: July 18, 2018
This is version 128 of the entry and version 4 of the sequence. See 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

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 17
    Human chromosome 17: 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. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

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