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Q96MK3 (FA20A_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 92. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | 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 FAM20A
Gene names
Name:FAM20A
ORF Names:UNQ9388/PRO34279
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length541 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Subcellular location

Secreted By similarity.

Tissue specificity

Highly expressed in lung and liver. Intermediate levels in thymus and ovary. Ref.6

Post-translational modification

N-glycosylated By similarity.

Involvement in disease

Amelogenesis imperfecta and gingival fibromatosis syndrome (AIGFS) [MIM:614253]: An autosomal recessive condition characterized by mild gingival fibromatosis and dental anomalies, including hypoplastic amelogenesis imperfecta, intrapulpal calcifications, delay of tooth eruption, hypodontia/oligodontia, pericoronal radiolucencies, and unerupted teeth.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.7 Ref.8

Sequence similarities

Belongs to the FAM20 family.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 3333 Potential
Chain34 – 541508Protein FAM20A
PRO_0000008743

Amino acid modifications

Glycosylation701N-linked (GlcNAc...) Potential
Glycosylation1451N-linked (GlcNAc...) Potential
Glycosylation2871N-linked (GlcNAc...) Potential
Glycosylation3881N-linked (GlcNAc...) Potential
Glycosylation5381N-linked (GlcNAc...) Potential

Natural variations

Natural variant197 – 21418DYSQD…DCTQI → V in AIGFS. Ref.8
VAR_066859
Natural variant3321N → K. Ref.1 Ref.2 Ref.4
Corresponds to variant rs2302234 [ dbSNP | Ensembl ].
VAR_059282
Natural variant5301L → S. Ref.1 Ref.2 Ref.4 Ref.5
Corresponds to variant rs2907373 [ dbSNP | Ensembl ].
VAR_059283

Sequences

Sequence LengthMass (Da)Tools
Q96MK3 [UniParc].

Last modified November 24, 2009. Version 4.
Checksum: B44A4655996279A1

FASTA54161,417
        10         20         30         40         50         60 
MPGLRRDRLL TLLLLGALLS ADLYFHLWPQ VQRQLRPRER PRGCPCTGRA SSLARDSAAA 

        70         80         90        100        110        120 
ASDPGTIVHN FSRTEPRTEP AGGSHSGSSS KLQALFAHPL YNVPEEPPLL GAEDSLLASQ 

       130        140        150        160        170        180 
EALRYYRRKV ARWNRRHKMY REQMNLTSLD PPLQLRLEAS WVQFHLGINR HGLYSRSSPV 

       190        200        210        220        230        240 
VSKLLQDMRH FPTISADYSQ DEKALLGACD CTQIVKPSGV HLKLVLRFSD FGKAMFKPMR 

       250        260        270        280        290        300 
QQRDEETPVD FFYFIDFQRH NAEIAAFHLD RILDFRRVPP TVGRIVNVTK EILEVTKNEI 

       310        320        330        340        350        360 
LQSVFFVSPA SNVCFFAKCP YMCKTEYAVC GNPHLLEGSL SAFLPSLNLA PRLSVPNPWI 

       370        380        390        400        410        420 
RSYTLAGKEE WEVNPLYCDT VKQIYPYNNS QRLLNVIDMA IFDFLIGNMD RHHYEMFTKF 

       430        440        450        460        470        480 
GDDGFLIHLD NARGFGRHSH DEISILSPLS QCCMIKKKTL LHLQLLAQAD YRLSDVMRES 

       490        500        510        520        530        540 
LLEDQLSPVL TEPHLLALDR RLQTILRTVE GCIVAHGQQS VIVDGPVEQL APDSGQANLT 


S 

« 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], VARIANTS LYS-332 AND SER-530.
Tissue: Placenta.
[2]"The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment."
Clark H.F., Gurney A.L., Abaya E., Baker K., Baldwin D.T., Brush J., Chen J., Chow B., Chui C., Crowley C., Currell B., Deuel B., Dowd P., Eaton D., Foster J.S., Grimaldi C., Gu Q., Hass P.E. expand/collapse author list , Heldens S., Huang A., Kim H.S., Klimowski L., Jin Y., Johnson S., Lee J., Lewis L., Liao D., Mark M.R., Robbie E., Sanchez C., Schoenfeld J., Seshagiri S., Simmons L., Singh J., Smith V., Stinson J., Vagts A., Vandlen R.L., Watanabe C., Wieand D., Woods K., Xie M.-H., Yansura D.G., Yi S., Yu G., Yuan J., Zhang M., Zhang Z., Goddard A.D., Wood W.I., Godowski P.J., Gray A.M.
Genome Res. 13:2265-2270(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANTS LYS-332 AND SER-530.
[3]"DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage."
Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R., Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A., Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J., Chang J.L. expand/collapse author list , Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J., DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D., Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A., Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.
Nature 440:1045-1049(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]"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], VARIANTS LYS-332 AND SER-530.
Tissue: Brain.
[5]"The full-ORF clone resource of the German cDNA consortium."
Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I.
BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 202-541, VARIANT SER-530.
Tissue: Testis.
[6]"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.
[7]"Whole-exome sequencing identifies FAM20A mutations as a cause of amelogenesis imperfecta and gingival hyperplasia syndrome."
O'Sullivan J., Bitu C.C., Daly S.B., Urquhart J.E., Barron M.J., Bhaskar S.S., Martelli-Junior H., dos Santos Neto P.E., Mansilla M.A., Murray J.C., Coletta R.D., Black G.C., Dixon M.J.
Am. J. Hum. Genet. 88:616-620(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: INVOLVEMENT IN AIGFS.
[8]"Novel FAM20A mutations in hypoplastic amelogenesis imperfecta."
Cho S.H., Seymen F., Lee K.E., Lee S.K., Kweon Y.S., Kim K.J., Jung S.E., Song S.J., Yildirim M., Bayram M., Tuna E.B., Gencay K., Kim J.W.
Hum. Mutat. 33:91-94(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT AIGFS 197-ASP--ILE-214 DELINS VAL-197.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
CCDSCCDS11679.1.
PIRT42684.
RefSeqNP_001230675.1. NM_001243746.1.
NP_060035.2. NM_017565.3.
UniGeneHs.268874.

3D structure databases

ProteinModelPortalQ96MK3.
SMRQ96MK3. Positions 160-523.
ModBaseSearch...
MobiDBSearch...

PTM databases

PhosphoSiteQ96MK3.

Polymorphism databases

DMDM269849750.

Proteomic databases

PaxDbQ96MK3.
PRIDEQ96MK3.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000592554; ENSP00000468308; ENSG00000108950.
GeneID54757.
KEGGhsa:54757.
UCSCuc002jho.3. human.

Organism-specific databases

CTD54757.
GeneCardsGC17M066533.
H-InvDBHIX0014117.
HGNCHGNC:23015. FAM20A.
HPAHPA048964.
MIM611062. gene.
614253. phenotype.
neXtProtNX_Q96MK3.
Orphanet1031. Amelogenesis imperfecta - nephrocalcinosis.
171836. Amelogenesis imperfecta and gingival hyperplasia syndrome.
PharmGKBPA134888583.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG238678.
HOGENOMHOG000231437.
HOVERGENHBG051635.
InParanoidQ96MK3.
OMAHGLYSRS.
OrthoDBEOG7JX33T.
PhylomeDBQ96MK3.

Gene expression databases

ArrayExpressQ96MK3.
BgeeQ96MK3.
CleanExHS_FAM20A.
GenevestigatorQ96MK3.

Family and domain databases

InterProIPR009581. DUF1193.
IPR024869. FAM20.
[Graphical view]
PANTHERPTHR12450. PTHR12450. 1 hit.
PfamPF06702. DUF1193. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiFAM20A.
GenomeRNAi54757.
NextBio57384.
PROQ96MK3.
SOURCESearch...

Entry information

Entry nameFA20A_HUMAN
AccessionPrimary (citable) accession number: Q96MK3
Secondary accession number(s): B2RN47, B2RN49, Q9UF95
Entry history
Integrated into UniProtKB/Swiss-Prot: September 19, 2003
Last sequence update: November 24, 2009
Last modified: July 9, 2014
This is version 92 of the entry and version 4 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

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 17

Human chromosome 17: entries, gene names and cross-references to MIM