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Protein

Pseudokinase FAM20A

Gene

FAM20A

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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

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
Complete GO annotation...

Keywords - Biological processi

Biomineralization

Enzyme and pathway databases

BioCyciZFISH:ENSG00000108950-MONOMER.

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

HGNCiHGNC:23015. FAM20A.

Subcellular locationi

GO - Cellular componenti

  • cell Source: UniProtKB
  • endoplasmic reticulum Source: UniProtKB
  • extracellular exosome Source: UniProtKB
  • Golgi apparatus Source: UniProtKB-SubCell
Complete GO annotation...

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 Publications1
Natural variantiVAR_072172403D → N in AI1G; impaired folding of the protein; abolishes ability to activate FAM20C protein kinase activity. 2 PublicationsCorresponds to variant rs377432171dbSNPEnsembl.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...)Sequence analysis1
Glycosylationi145N-linked (GlcNAc...)Sequence analysis1
Glycosylationi287N-linked (GlcNAc...)Sequence analysis1
Disulfide bondi314 ↔ 330By similarity
Disulfide bondi319 ↔ 323By similarity
Disulfide bondi378 ↔ 452By similarity
Glycosylationi388N-linked (GlcNAc...)Sequence analysis1
Disulfide bondi453 ↔ 512By similarity
Glycosylationi538N-linked (GlcNAc...)Sequence analysis1

Post-translational modificationi

N-glycosylated.By similarity

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

EPDiQ96MK3.
PaxDbiQ96MK3.
PeptideAtlasiQ96MK3.
PRIDEiQ96MK3.

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

3D structure databases

ProteinModelPortaliQ96MK3.
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.
OMAiEASWVQF.
OrthoDBiEOG091G1BEO.
PhylomeDBiQ96MK3.

Family and domain databases

InterProiIPR024869. FAM20.
IPR009581. FAM20_C.
[Graphical view]
PANTHERiPTHR12450. PTHR12450. 2 hits.
PfamiPF06702. Fam20C. 1 hit.
[Graphical view]

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 Publications1
Natural variantiVAR_059282332N → K.3 PublicationsCorresponds to variant rs2302234dbSNPEnsembl.1
Natural variantiVAR_072172403D → N in AI1G; impaired folding of the protein; abolishes ability to activate FAM20C protein kinase activity. 2 PublicationsCorresponds to variant rs377432171dbSNPEnsembl.1
Natural variantiVAR_059283530L → S.4 PublicationsCorresponds to variant rs2907373dbSNPEnsembl.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

Cross-referencesi

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.

3D structure databases

ProteinModelPortaliQ96MK3.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

IntActiQ96MK3. 5 interactors.
STRINGi9606.ENSP00000468308.

PTM databases

iPTMnetiQ96MK3.
PhosphoSitePlusiQ96MK3.

Polymorphism and mutation databases

BioMutaiFAM20A.
DMDMi269849750.

Proteomic databases

EPDiQ96MK3.
PaxDbiQ96MK3.
PeptideAtlasiQ96MK3.
PRIDEiQ96MK3.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi54757.
DisGeNETi54757.
GeneCardsiFAM20A.
H-InvDBHIX0014117.
HGNCiHGNC:23015. FAM20A.
HPAiHPA048964.
MalaCardsiFAM20A.
MIMi204690. phenotype.
611062. gene.
neXtProtiNX_Q96MK3.
OpenTargetsiENSG00000108950.
Orphaneti1031. Amelogenesis imperfecta - nephrocalcinosis.
171836. Amelogenesis imperfecta and gingival hyperplasia syndrome.
PharmGKBiPA134888583.
GenAtlasiSearch...

Phylogenomic databases

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

Enzyme and pathway databases

BioCyciZFISH:ENSG00000108950-MONOMER.

Miscellaneous databases

ChiTaRSiFAM20A. human.
GeneWikiiFAM20A.
GenomeRNAii54757.
PROiQ96MK3.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000108950.
CleanExiHS_FAM20A.
ExpressionAtlasiQ96MK3. baseline and differential.
GenevisibleiQ96MK3. HS.

Family and domain databases

InterProiIPR024869. FAM20.
IPR009581. FAM20_C.
[Graphical view]
PANTHERiPTHR12450. PTHR12450. 2 hits.
PfamiPF06702. Fam20C. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiFA20A_HUMAN
AccessioniPrimary (citable) accession number: Q96MK3
Secondary accession number(s): B2RN47, B2RN49, Q9UF95
Entry historyi
Integrated into UniProtKB/Swiss-Prot: September 19, 2003
Last sequence update: November 24, 2009
Last modified: November 30, 2016
This is version 114 of the entry and version 4 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 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

Keywords - Technical termi

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. SIMILARITY comments
    Index of protein domains and families

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 one 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.