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Q6ZRV2

- FA83H_HUMAN

UniProt

Q6ZRV2 - FA83H_HUMAN

Protein

Protein FAM83H

Gene

FAM83H

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 77 (01 Oct 2014)
      Sequence version 3 (18 May 2010)
      Previous versions | rss
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    Functioni

    May play a major role in the structural organization and calcification of developing enamel.1 Publication

    GO - Biological processi

    1. biomineral tissue development Source: UniProtKB-KW

    Keywords - Biological processi

    Biomineralization

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Protein FAM83H
    Gene namesi
    Name:FAM83H
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 8

    Organism-specific databases

    HGNCiHGNC:24797. FAM83H.

    Pathology & Biotechi

    Involvement in diseasei

    Amelogenesis imperfecta 3 (AI3) [MIM:130900]: An autosomal dominant hypomineralized form of amelogenesis imperfecta, a defect of enamel formation. AI3 is characterized by enamel of normal thickness but soft and with cheesy consistency. Enamel is lost from tooth soon after eruption.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.

    Keywords - Diseasei

    Amelogenesis imperfecta, Disease mutation

    Organism-specific databases

    MIMi130900. phenotype.
    Orphaneti100032. Hypocalcified amelogenesis imperfecta.
    PharmGKBiPA144596434.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 11791179Protein FAM83HPRO_0000324488Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei465 – 4651Phosphothreonine1 Publication
    Modified residuei523 – 5231Phosphoserine3 Publications
    Modified residuei647 – 6471Phosphoserine3 Publications
    Modified residuei759 – 7591Phosphoserine1 Publication
    Modified residuei785 – 7851Phosphoserine2 Publications
    Modified residuei870 – 8701Phosphoserine1 Publication
    Modified residuei881 – 8811Phosphoserine2 Publications
    Modified residuei883 – 8831Phosphothreonine1 Publication
    Modified residuei892 – 8921Phosphoserine2 Publications
    Modified residuei903 – 9031Phosphoserine2 Publications
    Modified residuei914 – 9141Phosphoserine2 Publications
    Modified residuei925 – 9251PhosphoserineBy similarity
    Modified residuei936 – 9361Phosphoserine2 Publications
    Modified residuei945 – 9451Phosphoserine2 Publications
    Modified residuei1003 – 10031Phosphoserine5 Publications
    Modified residuei1024 – 10241Phosphoserine1 Publication
    Modified residuei1025 – 10251Phosphoserine1 Publication
    Modified residuei1040 – 10401Phosphothreonine1 Publication
    Modified residuei1048 – 10481Phosphoserine1 Publication

    Keywords - PTMi

    Phosphoprotein

    Proteomic databases

    MaxQBiQ6ZRV2.
    PaxDbiQ6ZRV2.
    PRIDEiQ6ZRV2.

    PTM databases

    PhosphoSiteiQ6ZRV2.

    Expressioni

    Tissue specificityi

    Expressed in the tooth follicle.1 Publication

    Gene expression databases

    ArrayExpressiQ6ZRV2.
    BgeeiQ6ZRV2.
    CleanExiHS_FAM83H.
    GenevestigatoriQ6ZRV2.

    Organism-specific databases

    HPAiHPA024505.
    HPA024604.

    Interactioni

    Protein-protein interaction databases

    BioGridi130292. 9 interactions.
    IntActiQ6ZRV2. 7 interactions.
    MINTiMINT-8330026.
    STRINGi9606.ENSP00000373565.

    Structurei

    3D structure databases

    ProteinModelPortaliQ6ZRV2.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the FAM83 family.Curated

    Phylogenomic databases

    eggNOGiNOG78323.
    HOGENOMiHOG000112488.
    HOVERGENiHBG107907.
    InParanoidiQ6ZRV2.
    OMAiARHLEMD.
    PhylomeDBiQ6ZRV2.
    TreeFamiTF330777.

    Family and domain databases

    InterProiIPR012461. DUF1669.
    [Graphical view]
    PANTHERiPTHR16181. PTHR16181. 1 hit.
    PfamiPF07894. DUF1669. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    Q6ZRV2-1 [UniParc]FASTAAdd to Basket

    « Hide

    MARRSQSSSQ GDNPLAPGYL PPHYKEYYRL AVDALAEGGS EAYSRFLATE     50
    GAPDFLCPEE LEHVSRHLRP PQYVTREPPE GSLLDVDMDG SSGTYWPVNS 100
    DQAVPELDLG WPLTFGFQGT EVTTLVQPPP PDSPSIKDEA RRMIRSAQQV 150
    VAVVMDMFTD VDLLSEVLEA AARRVPVYIL LDEMNAQHFL DMADKCRVNL 200
    QHVDFLRVRT VAGPTYYCRT GKSFKGHVKE KFLLVDCAVV MSGSYSFMWS 250
    FEKIHRSLAH VFQGELVSSF DEEFRILFAQ SEPLVPSAAA LARMDAYALA 300
    PYAGAGPLVG VPGVGAPTPF SFPKRAHLLF PPPREEGLGF PSFLDPDRHF 350
    LSAFRREEPP RMPGGALEPH AGLRPLSRRL EAEAGPAGEL AGARGFFQAR 400
    HLEMDAFKRH SFATEGAGAV ENFAAARQVS RQTFLSHGDD FRFQTSHFHR 450
    DQLYQQQYQW DPQLTPARPQ GLFEKLRGGR AGFADPDDFT LGAGPRFPEL 500
    GPDGHQRLDY VPSSASREVR HGSDPAFAPG PRGLEPSGAP RPNLTQRFPC 550
    QAAARPGPDP APEAEPERRG GPEGRAGLRR WRLASYLSGC HGEDGGDDGL 600
    PAPMEAEAYE DDVLAPGGRA PAGDLLPSAF RVPAAFPTKV PVPGPGSGGN 650
    GPEREGPEEP GLAKQDSFRS RLNPLVQRSS RLRSSLIFST SQAEGAAGAA 700
    AATEKVQLLH KEQTVSETLG PGGEAVRSAA STKVAELLEK YKGPARDPGG 750
    GAGAITVASH SKAVVSQAWR EEVAAPGAVG GERRSLESCL LDLRDSFAQQ 800
    LHQEAERQPG AASLTAAQLL DTLGRSGSDR LPSRFLSAQS HSTSPQGLDS 850
    PLPLEGSGAH QVLHNESKGS PTSAYPERKG SPTPGFSTRR GSPTTGFIEQ 900
    KGSPTSAYPE RRGSPVPPVP ERRSSPVPPV PERRGSLTLT ISGESPKAGP 950
    AEEGPSGPME VLRKGSLRLR QLLSPKGERR MEDEGGFPVP QENGQPESPR 1000
    RLSLGQGDST EAATEERGPR ARLSSATANA LYSSNLRDDT KAILEQISAH 1050
    GQKHRAVPAP SPGPTHNSPE LGRPPAAGVL APDMSDKDKC SAIFRSDSLG 1100
    TQGRLSRTLP ASAEERDRLL RRMESMRKEK RVYSRFEVFC KKEEASSPGA 1150
    GEGPAEEGTR DSKVGKFVPK ILGTFKSKK 1179
    Length:1,179
    Mass (Da):127,122
    Last modified:May 18, 2010 - v3
    Checksum:iD35A1822D8E517F0
    GO

    Sequence cautioni

    The sequence BAC87207.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti605 – 6051E → V in BAC87207. (PubMed:14702039)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti201 – 2011Q → H.
    Corresponds to variant rs9969600 [ dbSNP | Ensembl ].
    VAR_062189

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AC105219 Genomic DNA. No translation available.
    AK127960 mRNA. Translation: BAC87207.1. Different initiation.
    BC007264 mRNA. Translation: AAH07264.1.
    BC033256 mRNA. Translation: AAH33256.1.
    CCDSiCCDS6410.2.
    RefSeqiNP_940890.3. NM_198488.3.
    XP_005250946.1. XM_005250889.1.
    XP_005250947.1. XM_005250890.2.
    XP_006725152.1. XM_006725089.1.
    XP_006725153.1. XM_006725090.1.
    UniGeneiHs.67776.
    Hs.713170.

    Genome annotation databases

    EnsembliENST00000388913; ENSP00000373565; ENSG00000180921.
    GeneIDi286077.
    KEGGihsa:286077.
    UCSCiuc003yzk.3. human.

    Polymorphism databases

    DMDMi296439349.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AC105219 Genomic DNA. No translation available.
    AK127960 mRNA. Translation: BAC87207.1 . Different initiation.
    BC007264 mRNA. Translation: AAH07264.1 .
    BC033256 mRNA. Translation: AAH33256.1 .
    CCDSi CCDS6410.2.
    RefSeqi NP_940890.3. NM_198488.3.
    XP_005250946.1. XM_005250889.1.
    XP_005250947.1. XM_005250890.2.
    XP_006725152.1. XM_006725089.1.
    XP_006725153.1. XM_006725090.1.
    UniGenei Hs.67776.
    Hs.713170.

    3D structure databases

    ProteinModelPortali Q6ZRV2.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 130292. 9 interactions.
    IntActi Q6ZRV2. 7 interactions.
    MINTi MINT-8330026.
    STRINGi 9606.ENSP00000373565.

    PTM databases

    PhosphoSitei Q6ZRV2.

    Polymorphism databases

    DMDMi 296439349.

    Proteomic databases

    MaxQBi Q6ZRV2.
    PaxDbi Q6ZRV2.
    PRIDEi Q6ZRV2.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000388913 ; ENSP00000373565 ; ENSG00000180921 .
    GeneIDi 286077.
    KEGGi hsa:286077.
    UCSCi uc003yzk.3. human.

    Organism-specific databases

    CTDi 286077.
    GeneCardsi GC08M144806.
    H-InvDB HIX0025555.
    HGNCi HGNC:24797. FAM83H.
    HPAi HPA024505.
    HPA024604.
    MIMi 130900. phenotype.
    611927. gene.
    neXtProti NX_Q6ZRV2.
    Orphaneti 100032. Hypocalcified amelogenesis imperfecta.
    PharmGKBi PA144596434.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG78323.
    HOGENOMi HOG000112488.
    HOVERGENi HBG107907.
    InParanoidi Q6ZRV2.
    OMAi ARHLEMD.
    PhylomeDBi Q6ZRV2.
    TreeFami TF330777.

    Miscellaneous databases

    GeneWikii FAM83H.
    GenomeRNAii 286077.
    NextBioi 95966.
    PROi Q6ZRV2.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q6ZRV2.
    Bgeei Q6ZRV2.
    CleanExi HS_FAM83H.
    Genevestigatori Q6ZRV2.

    Family and domain databases

    InterProi IPR012461. DUF1669.
    [Graphical view ]
    PANTHERi PTHR16181. PTHR16181. 1 hit.
    Pfami PF07894. DUF1669. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "DNA sequence and analysis of human chromosome 8."
      Nusbaum C., Mikkelsen T.S., Zody M.C., Asakawa S., Taudien S., Garber M., Kodira C.D., Schueler M.G., Shimizu A., Whittaker C.A., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Yang X., Allen N.R., Anderson S., Asakawa T.
      , Blechschmidt K., Bloom T., Borowsky M.L., Butler J., Cook A., Corum B., DeArellano K., DeCaprio D., Dooley K.T., Dorris L. III, Engels R., Gloeckner G., Hafez N., Hagopian D.S., Hall J.L., Ishikawa S.K., Jaffe D.B., Kamat A., Kudoh J., Lehmann R., Lokitsang T., Macdonald P., Major J.E., Matthews C.D., Mauceli E., Menzel U., Mihalev A.H., Minoshima S., Murayama Y., Naylor J.W., Nicol R., Nguyen C., O'Leary S.B., O'Neill K., Parker S.C.J., Polley A., Raymond C.K., Reichwald K., Rodriguez J., Sasaki T., Schilhabel M., Siddiqui R., Smith C.L., Sneddon T.P., Talamas J.A., Tenzin P., Topham K., Venkataraman V., Wen G., Yamazaki S., Young S.K., Zeng Q., Zimmer A.R., Rosenthal A., Birren B.W., Platzer M., Shimizu N., Lander E.S.
      Nature 439:331-335(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    2. "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] OF 275-1179.
      Tissue: Testis.
    3. "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] OF 861-1179.
      Tissue: Placenta and Prostate.
    4. "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks."
      Olsen J.V., Blagoev B., Gnad F., Macek B., Kumar C., Mortensen P., Mann M.
      Cell 127:635-648(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1003, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    5. "FAM83H mutations in families with autosomal-dominant hypocalcified amelogenesis imperfecta."
      Kim J.-W., Lee S.-K., Lee Z.H., Park J.-C., Lee K.-E., Lee M.-H., Park J.-T., Seo B.-M., Hu J.C.-C., Simmer J.P.
      Am. J. Hum. Genet. 82:489-494(2008) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, TISSUE SPECIFICITY, INVOLVEMENT IN AI3.
    6. "Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle."
      Daub H., Olsen J.V., Bairlein M., Gnad F., Oppermann F.S., Korner R., Greff Z., Keri G., Stemmann O., Mann M.
      Mol. Cell 31:438-448(2008) [PubMed] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-523; SER-647; SER-785 AND SER-1003, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    7. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-647; SER-881; THR-883; SER-892; SER-903; SER-936; SER-945; SER-1003; SER-1024 AND SER-1025, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    8. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-523; SER-914 AND SER-1003, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    9. "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
      Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.
      Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-465; SER-523; SER-647; SER-759; SER-785; SER-870; SER-881; SER-892; SER-903; SER-914; SER-936; SER-945; SER-1003; THR-1040 AND SER-1048, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    10. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

    Entry informationi

    Entry nameiFA83H_HUMAN
    AccessioniPrimary (citable) accession number: Q6ZRV2
    Secondary accession number(s): A0JLS2, Q8N4W0
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: March 18, 2008
    Last sequence update: May 18, 2010
    Last modified: October 1, 2014
    This is version 77 of the entry and version 3 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 8
      Human chromosome 8: 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