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Protein

Protein FAM20A

Gene

FAM20A

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-Experimental evidence at protein leveli

Functioni

GO - Biological processi

  • calcium ion homeostasis Source: UniProtKB
  • enamel mineralization Source: UniProtKB
  • tooth eruption Source: UniProtKB
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 Componenti: Chromosome 17

Organism-specific databases

HGNCiHGNC:23015. FAM20A.

Subcellular locationi

GO - Cellular componenti

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

Keywords - Cellular componenti

Golgi apparatus, Secreted

Pathology & Biotechi

Involvement in diseasei

Amelogenesis imperfecta 1G (AI1G)5 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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti173 – 1731L → R in AI1G. 1 Publication
VAR_072170
Natural varianti197 – 21418DYSQD…DCTQI → V in AI1G. 1 Publication
VAR_066859Add
BLAST
Natural varianti331 – 3311G → D in AI1G. 1 Publication
VAR_072171
Natural varianti403 – 4031D → N in AI1G. 1 Publication
VAR_072172

Keywords - Diseasei

Amelogenesis imperfecta, Disease mutation

Organism-specific databases

MIMi204690. phenotype.
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)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 3333Sequence AnalysisAdd
BLAST
Chaini34 – 541508Protein FAM20APRO_0000008743Add
BLAST

Amino acid modifications

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

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

BgeeiQ96MK3.
CleanExiHS_FAM20A.
ExpressionAtlasiQ96MK3. baseline and differential.
GenevestigatoriQ96MK3.

Organism-specific databases

HPAiHPA048964.

Structurei

3D structure databases

ProteinModelPortaliQ96MK3.
SMRiQ96MK3. Positions 160-523.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the FAM20 family.Curated

Keywords - Domaini

Signal

Phylogenomic databases

eggNOGiNOG238678.
GeneTreeiENSGT00390000007484.
HOGENOMiHOG000231437.
HOVERGENiHBG051635.
InParanoidiQ96MK3.
OMAiRLEASWV.
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

        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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti173 – 1731L → R in AI1G. 1 Publication
VAR_072170
Natural varianti197 – 21418DYSQD…DCTQI → V in AI1G. 1 Publication
VAR_066859Add
BLAST
Natural varianti331 – 3311G → D in AI1G. 1 Publication
VAR_072171
Natural varianti332 – 3321N → K.3 Publications
Corresponds to variant rs2302234 [ dbSNP | Ensembl ].
VAR_059282
Natural varianti403 – 4031D → N in AI1G. 1 Publication
VAR_072172
Natural varianti530 – 5301L → S.4 Publications
Corresponds to variant rs2907373 [ dbSNP | Ensembl ].
VAR_059283

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.3. 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.
SMRiQ96MK3. Positions 160-523.
ModBaseiSearch...
MobiDBiSearch...

PTM databases

PhosphoSiteiQ96MK3.

Polymorphism and mutation databases

BioMutaiFAM20A.
DMDMi269849750.

Proteomic databases

PaxDbiQ96MK3.
PRIDEiQ96MK3.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000592554; ENSP00000468308; ENSG00000108950.
GeneIDi54757.
KEGGihsa:54757.
UCSCiuc002jho.3. human.

Organism-specific databases

CTDi54757.
GeneCardsiGC17M066533.
H-InvDBHIX0014117.
HGNCiHGNC:23015. FAM20A.
HPAiHPA048964.
MIMi204690. phenotype.
611062. gene.
neXtProtiNX_Q96MK3.
Orphaneti1031. Amelogenesis imperfecta - nephrocalcinosis.
171836. Amelogenesis imperfecta and gingival hyperplasia syndrome.
PharmGKBiPA134888583.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG238678.
GeneTreeiENSGT00390000007484.
HOGENOMiHOG000231437.
HOVERGENiHBG051635.
InParanoidiQ96MK3.
OMAiRLEASWV.
OrthoDBiEOG7JX33T.
PhylomeDBiQ96MK3.

Miscellaneous databases

ChiTaRSiFAM20A. human.
GeneWikiiFAM20A.
GenomeRNAii54757.
NextBioi57384.
PROiQ96MK3.
SOURCEiSearch...

Gene expression databases

BgeeiQ96MK3.
CleanExiHS_FAM20A.
ExpressionAtlasiQ96MK3. baseline and differential.
GenevestigatoriQ96MK3.

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. "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 AI1G.
  8. "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome."
    Bian Y., Song C., Cheng K., Dong M., Wang F., Huang J., Sun D., Wang L., Ye M., Zou H.
    J. Proteomics 96:253-262(2014) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Liver.
  9. Cited for: VARIANT AI1G 197-ASP--ILE-214 DELINS VAL-197.
  10. "Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutations."
    Jaureguiberry G., De la Dure-Molla M., Parry D., Quentric M., Himmerkus N., Koike T., Poulter J., Klootwijk E., Robinette S.L., Howie A.J., Patel V., Figueres M.L., Stanescu H.C., Issler N., Nicholson J.K., Bockenhauer D., Laing C., Walsh S.B.
    , McCredie D.A., Povey S., Asselin A., Picard A., Coulomb A., Medlar A.J., Bailleul-Forestier I., Verloes A., Le Caignec C., Roussey G., Guiol J., Isidor B., Logan C., Shore R., Johnson C., Inglehearn C., Al-Bahlani S., Schmittbuhl M., Clauss F., Huckert M., Laugel V., Ginglinger E., Pajarola S., Sparta G., Bartholdi D., Rauch A., Addor M.C., Yamaguti P.M., Safatle H.P., Acevedo A.C., Martelli-Junior H., dos Santos Netos P.E., Coletta R.D., Gruessel S., Sandmann C., Ruehmann D., Langman C.B., Scheinman S.J., Ozdemir-Ozenen D., Hart T.C., Hart P.S., Neugebauer U., Schlatter E., Houillier P., Gahl W.A., Vikkula M., Bloch-Zupan A., Bleich M., Kitagawa H., Unwin R.J., Mighell A., Berdal A., Kleta R.
    Nephron Physiol. 122:1-6(2012) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT AI1G ARG-173.
  11. Cited for: VARIANT AI1G ASP-331, SUBCELLULAR LOCATION.
  12. Cited for: VARIANT AI1G ASN-403.

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: May 27, 2015
This is version 101 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

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.