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Q96MK3

- FA20A_HUMAN

UniProt

Q96MK3 - FA20A_HUMAN

Protein

Protein FAM20A

Gene

FAM20A

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 93 (01 Oct 2014)
      Sequence version 4 (24 Nov 2009)
      Previous versions | rss
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    Functioni

    GO - Biological processi

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

    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

    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.2 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti197 – 21418DYSQD…DCTQI → V in AIGFS.
    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 – 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

    ArrayExpressiQ96MK3.
    BgeeiQ96MK3.
    CleanExiHS_FAM20A.
    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.
    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.
    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

    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: October 1, 2014
    This is version 93 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