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Q96MK3

- FA20A_HUMAN

UniProt

Q96MK3 - FA20A_HUMAN

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Protein

Protein FAM20A

Gene
FAM20A, UNQ9388/PRO34279
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5 - Experimental evidence at protein leveli

Functioni

GO - Biological processi

  1. calcium ion homeostasis Source: UniProt
  2. enamel mineralization Source: UniProt
  3. tooth eruption Source: UniProt
Complete GO annotation...

Names & Taxonomyi

Protein namesi
Recommended name:
Protein FAM20A
Gene namesi
Name:FAM20A
ORF Names:UNQ9388/PRO34279
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 17

Organism-specific databases

HGNCiHGNC:23015. FAM20A.

Subcellular locationi

Secreted By similarity

GO - Cellular componenti

  1. cell Source: UniProt
  2. extracellular vesicular exosome Source: UniProt
Complete GO annotation...

Keywords - Cellular componenti

Secreted

Pathology & Biotechi

Involvement in diseasei

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.2 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti197 – 21418DYSQD…DCTQI → V in AIGFS. 1 Publication
VAR_066859Add
BLAST

Keywords - Diseasei

Amelogenesis imperfecta, Disease mutation

Organism-specific databases

MIMi614253. phenotype.
Orphaneti1031. Amelogenesis imperfecta - nephrocalcinosis.
171836. Amelogenesis imperfecta and gingival hyperplasia syndrome.
PharmGKBiPA134888583.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 3333 Reviewed predictionAdd
BLAST
Chaini34 – 541508Protein FAM20APRO_0000008743Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi70 – 701N-linked (GlcNAc...) Reviewed prediction
Glycosylationi145 – 1451N-linked (GlcNAc...) Reviewed prediction
Glycosylationi287 – 2871N-linked (GlcNAc...) Reviewed prediction
Glycosylationi388 – 3881N-linked (GlcNAc...) Reviewed prediction
Glycosylationi538 – 5381N-linked (GlcNAc...) Reviewed prediction

Post-translational modificationi

N-glycosylated By similarity.

Keywords - PTMi

Glycoprotein

Proteomic databases

PaxDbiQ96MK3.
PRIDEiQ96MK3.

PTM databases

PhosphoSiteiQ96MK3.

Expressioni

Tissue specificityi

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

Gene expression databases

ArrayExpressiQ96MK3.
BgeeiQ96MK3.
CleanExiHS_FAM20A.
GenevestigatoriQ96MK3.

Organism-specific databases

HPAiHPA048964.

Structurei

3D structure databases

ProteinModelPortaliQ96MK3.
SMRiQ96MK3. Positions 160-523.

Family & Domainsi

Sequence similaritiesi

Belongs to the FAM20 family.

Keywords - Domaini

Signal

Phylogenomic databases

eggNOGiNOG238678.
HOGENOMiHOG000231437.
HOVERGENiHBG051635.
InParanoidiQ96MK3.
OMAiHGLYSRS.
OrthoDBiEOG7JX33T.
PhylomeDBiQ96MK3.

Family and domain databases

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

MPGLRRDRLL TLLLLGALLS ADLYFHLWPQ VQRQLRPRER PRGCPCTGRA    50
SSLARDSAAA ASDPGTIVHN FSRTEPRTEP AGGSHSGSSS KLQALFAHPL 100
YNVPEEPPLL GAEDSLLASQ EALRYYRRKV ARWNRRHKMY REQMNLTSLD 150
PPLQLRLEAS WVQFHLGINR HGLYSRSSPV VSKLLQDMRH FPTISADYSQ 200
DEKALLGACD CTQIVKPSGV HLKLVLRFSD FGKAMFKPMR QQRDEETPVD 250
FFYFIDFQRH NAEIAAFHLD RILDFRRVPP TVGRIVNVTK EILEVTKNEI 300
LQSVFFVSPA SNVCFFAKCP YMCKTEYAVC GNPHLLEGSL SAFLPSLNLA 350
PRLSVPNPWI RSYTLAGKEE WEVNPLYCDT VKQIYPYNNS QRLLNVIDMA 400
IFDFLIGNMD RHHYEMFTKF GDDGFLIHLD NARGFGRHSH DEISILSPLS 450
QCCMIKKKTL LHLQLLAQAD YRLSDVMRES LLEDQLSPVL TEPHLLALDR 500
RLQTILRTVE GCIVAHGQQS VIVDGPVEQL APDSGQANLT S 541
Length:541
Mass (Da):61,417
Last modified:November 24, 2009 - v4
Checksum:iB44A4655996279A1
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti197 – 21418DYSQD…DCTQI → V in AIGFS. 1 Publication
VAR_066859Add
BLAST
Natural varianti332 – 3321N → K.3 Publications
Corresponds to variant rs2302234 [ dbSNP | Ensembl ].
VAR_059282
Natural varianti530 – 5301L → S.4 Publications
Corresponds to variant rs2907373 [ dbSNP | Ensembl ].
VAR_059283

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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.3. human.

Polymorphism databases

DMDMi269849750.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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 .
CCDSi CCDS11679.1.
PIRi T42684.
RefSeqi NP_001230675.1. NM_001243746.1.
NP_060035.2. NM_017565.3.
UniGenei Hs.268874.

3D structure databases

ProteinModelPortali Q96MK3.
SMRi Q96MK3. Positions 160-523.
ModBasei Search...
MobiDBi Search...

PTM databases

PhosphoSitei Q96MK3.

Polymorphism databases

DMDMi 269849750.

Proteomic databases

PaxDbi Q96MK3.
PRIDEi Q96MK3.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000592554 ; ENSP00000468308 ; ENSG00000108950 .
GeneIDi 54757.
KEGGi hsa:54757.
UCSCi uc002jho.3. human.

Organism-specific databases

CTDi 54757.
GeneCardsi GC17M066533.
H-InvDB HIX0014117.
HGNCi HGNC:23015. FAM20A.
HPAi HPA048964.
MIMi 611062. gene.
614253. phenotype.
neXtProti NX_Q96MK3.
Orphaneti 1031. Amelogenesis imperfecta - nephrocalcinosis.
171836. Amelogenesis imperfecta and gingival hyperplasia syndrome.
PharmGKBi PA134888583.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG238678.
HOGENOMi HOG000231437.
HOVERGENi HBG051635.
InParanoidi Q96MK3.
OMAi HGLYSRS.
OrthoDBi EOG7JX33T.
PhylomeDBi Q96MK3.

Miscellaneous databases

GeneWikii FAM20A.
GenomeRNAii 54757.
NextBioi 57384.
PROi Q96MK3.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q96MK3.
Bgeei Q96MK3.
CleanExi HS_FAM20A.
Genevestigatori Q96MK3.

Family and domain databases

InterProi IPR009581. DUF1193.
IPR024869. FAM20.
[Graphical view ]
PANTHERi PTHR12450. PTHR12450. 1 hit.
Pfami PF06702. DUF1193. 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], VARIANTS LYS-332 AND SER-530.
    Tissue: Placenta.
  2. 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.
    , 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. 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. Cited for: VARIANT AIGFS 197-ASP--ILE-214 DELINS VAL-197.

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: July 9, 2014
This is version 92 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

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

External Data

Dasty 3

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