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Q6ZRV2

- FA83H_HUMAN

UniProt

Q6ZRV2 - FA83H_HUMAN

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Protein

Protein FAM83H

Gene
FAM83H
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5 - Experimental evidence at protein leveli

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
Complete GO annotation...

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.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication

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 – 9251Phosphoserine By 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. 6 interactions.
MINTiMINT-8330026.
STRINGi9606.ENSP00000373565.

Structurei

3D structure databases

ProteinModelPortaliQ6ZRV2.

Family & Domainsi

Sequence similaritiesi

Belongs to the FAM83 family.

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.

Natural variant

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

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti605 – 6051E → V in BAC87207. 1 Publication

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.
ENST00000565208; ENSP00000454975; ENSG00000261380.
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. 6 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 .
ENST00000565208 ; ENSP00000454975 ; ENSG00000261380 .
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

« Hide 'large scale' publications
  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: July 9, 2014
This is version 76 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

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