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Q6ZRV2 (FA83H_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 76. 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 FAM83H
Gene names
Name:FAM83H
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1179 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

May play a major role in the structural organization and calcification of developing enamel. Ref.5

Tissue specificity

Expressed in the tooth follicle. Ref.5

Involvement in disease

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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.5

Sequence similarities

Belongs to the FAM83 family.

Sequence caution

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

Ontologies

Keywords
   Biological processBiomineralization
   Coding sequence diversityPolymorphism
   DiseaseAmelogenesis imperfecta
Disease mutation
   PTMPhosphoprotein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processbiomineral tissue development

Inferred from electronic annotation. Source: UniProtKB-KW

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 11791179Protein FAM83H
PRO_0000324488

Amino acid modifications

Modified residue4651Phosphothreonine Ref.9
Modified residue5231Phosphoserine Ref.6 Ref.8 Ref.9
Modified residue6471Phosphoserine Ref.6 Ref.7 Ref.9
Modified residue7591Phosphoserine Ref.9
Modified residue7851Phosphoserine Ref.6 Ref.9
Modified residue8701Phosphoserine Ref.9
Modified residue8811Phosphoserine Ref.7 Ref.9
Modified residue8831Phosphothreonine Ref.7
Modified residue8921Phosphoserine Ref.7 Ref.9
Modified residue9031Phosphoserine Ref.7 Ref.9
Modified residue9141Phosphoserine Ref.8 Ref.9
Modified residue9251Phosphoserine By similarity
Modified residue9361Phosphoserine Ref.7 Ref.9
Modified residue9451Phosphoserine Ref.7 Ref.9
Modified residue10031Phosphoserine Ref.4 Ref.6 Ref.7 Ref.8 Ref.9
Modified residue10241Phosphoserine Ref.7
Modified residue10251Phosphoserine Ref.7
Modified residue10401Phosphothreonine Ref.9
Modified residue10481Phosphoserine Ref.9

Natural variations

Natural variant2011Q → H.
Corresponds to variant rs9969600 [ dbSNP | Ensembl ].
VAR_062189

Experimental info

Sequence conflict6051E → V in BAC87207. Ref.2

Sequences

Sequence LengthMass (Da)Tools
Q6ZRV2 [UniParc].

Last modified May 18, 2010. Version 3.
Checksum: D35A1822D8E517F0

FASTA1,179127,122
        10         20         30         40         50         60 
MARRSQSSSQ GDNPLAPGYL PPHYKEYYRL AVDALAEGGS EAYSRFLATE GAPDFLCPEE 

        70         80         90        100        110        120 
LEHVSRHLRP PQYVTREPPE GSLLDVDMDG SSGTYWPVNS DQAVPELDLG WPLTFGFQGT 

       130        140        150        160        170        180 
EVTTLVQPPP PDSPSIKDEA RRMIRSAQQV VAVVMDMFTD VDLLSEVLEA AARRVPVYIL 

       190        200        210        220        230        240 
LDEMNAQHFL DMADKCRVNL QHVDFLRVRT VAGPTYYCRT GKSFKGHVKE KFLLVDCAVV 

       250        260        270        280        290        300 
MSGSYSFMWS FEKIHRSLAH VFQGELVSSF DEEFRILFAQ SEPLVPSAAA LARMDAYALA 

       310        320        330        340        350        360 
PYAGAGPLVG VPGVGAPTPF SFPKRAHLLF PPPREEGLGF PSFLDPDRHF LSAFRREEPP 

       370        380        390        400        410        420 
RMPGGALEPH AGLRPLSRRL EAEAGPAGEL AGARGFFQAR HLEMDAFKRH SFATEGAGAV 

       430        440        450        460        470        480 
ENFAAARQVS RQTFLSHGDD FRFQTSHFHR DQLYQQQYQW DPQLTPARPQ GLFEKLRGGR 

       490        500        510        520        530        540 
AGFADPDDFT LGAGPRFPEL GPDGHQRLDY VPSSASREVR HGSDPAFAPG PRGLEPSGAP 

       550        560        570        580        590        600 
RPNLTQRFPC QAAARPGPDP APEAEPERRG GPEGRAGLRR WRLASYLSGC HGEDGGDDGL 

       610        620        630        640        650        660 
PAPMEAEAYE DDVLAPGGRA PAGDLLPSAF RVPAAFPTKV PVPGPGSGGN GPEREGPEEP 

       670        680        690        700        710        720 
GLAKQDSFRS RLNPLVQRSS RLRSSLIFST SQAEGAAGAA AATEKVQLLH KEQTVSETLG 

       730        740        750        760        770        780 
PGGEAVRSAA STKVAELLEK YKGPARDPGG GAGAITVASH SKAVVSQAWR EEVAAPGAVG 

       790        800        810        820        830        840 
GERRSLESCL LDLRDSFAQQ LHQEAERQPG AASLTAAQLL DTLGRSGSDR LPSRFLSAQS 

       850        860        870        880        890        900 
HSTSPQGLDS PLPLEGSGAH QVLHNESKGS PTSAYPERKG SPTPGFSTRR GSPTTGFIEQ 

       910        920        930        940        950        960 
KGSPTSAYPE RRGSPVPPVP ERRSSPVPPV PERRGSLTLT ISGESPKAGP AEEGPSGPME 

       970        980        990       1000       1010       1020 
VLRKGSLRLR QLLSPKGERR MEDEGGFPVP QENGQPESPR RLSLGQGDST EAATEERGPR 

      1030       1040       1050       1060       1070       1080 
ARLSSATANA LYSSNLRDDT KAILEQISAH GQKHRAVPAP SPGPTHNSPE LGRPPAAGVL 

      1090       1100       1110       1120       1130       1140 
APDMSDKDKC SAIFRSDSLG TQGRLSRTLP ASAEERDRLL RRMESMRKEK RVYSRFEVFC 

      1150       1160       1170 
KKEEASSPGA GEGPAEEGTR DSKVGKFVPK ILGTFKSKK 

« Hide

References

« Hide 'large scale' references
[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. expand/collapse author list , 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. 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] 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]"A quantitative atlas of mitotic phosphorylation."
Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P.
Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract]
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]"Large-scale proteomics analysis of the human kinome."
Oppermann F.S., Gnad F., Olsen J.V., Hornberger R., Greff Z., Keri G., Mann M., Daub H.
Mol. Cell. Proteomics 8:1751-1764(2009) [PubMed] [Europe PMC] [Abstract]
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]"Initial characterization of the human central proteome."
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AC105219 Genomic DNA. No translation available.
AK127960 mRNA. Translation: BAC87207.1. Different initiation.
BC007264 mRNA. Translation: AAH07264.1.
BC033256 mRNA. Translation: AAH33256.1.
CCDSCCDS6410.2.
RefSeqNP_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.
UniGeneHs.67776.
Hs.713170.

3D structure databases

ProteinModelPortalQ6ZRV2.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid130292. 9 interactions.
IntActQ6ZRV2. 6 interactions.
MINTMINT-8330026.
STRING9606.ENSP00000373565.

PTM databases

PhosphoSiteQ6ZRV2.

Polymorphism databases

DMDM296439349.

Proteomic databases

MaxQBQ6ZRV2.
PaxDbQ6ZRV2.
PRIDEQ6ZRV2.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000388913; ENSP00000373565; ENSG00000180921.
ENST00000565208; ENSP00000454975; ENSG00000261380.
GeneID286077.
KEGGhsa:286077.
UCSCuc003yzk.3. human.

Organism-specific databases

CTD286077.
GeneCardsGC08M144806.
H-InvDBHIX0025555.
HGNCHGNC:24797. FAM83H.
HPAHPA024505.
HPA024604.
MIM130900. phenotype.
611927. gene.
neXtProtNX_Q6ZRV2.
Orphanet100032. Hypocalcified amelogenesis imperfecta.
PharmGKBPA144596434.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG78323.
HOGENOMHOG000112488.
HOVERGENHBG107907.
InParanoidQ6ZRV2.
OMAARHLEMD.
PhylomeDBQ6ZRV2.
TreeFamTF330777.

Gene expression databases

ArrayExpressQ6ZRV2.
BgeeQ6ZRV2.
CleanExHS_FAM83H.
GenevestigatorQ6ZRV2.

Family and domain databases

InterProIPR012461. DUF1669.
[Graphical view]
PANTHERPTHR16181. PTHR16181. 1 hit.
PfamPF07894. DUF1669. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiFAM83H.
GenomeRNAi286077.
NextBio95966.
PROQ6ZRV2.
SOURCESearch...

Entry information

Entry nameFA83H_HUMAN
AccessionPrimary (citable) accession number: Q6ZRV2
Secondary accession number(s): A0JLS2, Q8N4W0
Entry history
Integrated into UniProtKB/Swiss-Prot: March 18, 2008
Last sequence update: May 18, 2010
Last modified: July 9, 2014
This is version 76 of the entry and version 3 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 8

Human chromosome 8: entries, gene names and cross-references to MIM