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UniProtKB - Q6ZRV2 (FA83H_HUMAN)

Protein

Protein FAM83H

Gene

FAM83H

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

Functioni

May play a major role in the structural organization and calcification of developing enamel (PubMed:18252228). May play a role in keratin cytoskeleton disassembly by recruiting CSNK1A1 to keratin filaments. Thereby, it may regulate epithelial cell migration (PubMed:23902688).2 Publications

GO - Molecular functioni

  • keratin filament binding Source: UniProtKB
  • protein kinase binding Source: UniProtKB
View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

Keywordsi

Biological processBiomineralization

Names & Taxonomyi

Protein namesi
Recommended name:
Protein FAM83HCurated
Gene namesi
Name:FAM83HImported
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 8

Organism-specific databases

EuPathDBiHostDB:ENSG00000180921.6
HGNCiHGNC:24797 FAM83H
MIMi611927 gene
neXtProtiNX_Q6ZRV2

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Cytoskeleton

Pathology & Biotechi

Involvement in diseasei

Amelogenesis imperfecta 3A (AI3A)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal dominant hypomineralized form of amelogenesis imperfecta, a defect of enamel formation. AI3A is characterized by enamel of normal thickness but soft and with cheesy consistency. Enamel is lost from tooth soon after eruption.
See also OMIM:130900
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_073954557G → C in AI3A; mild form. 1 PublicationCorresponds to variant dbSNP:rs312262803Ensembl.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi251F → A: No effect on interaction with CSNK1A1 and function in keratin cytoskeleton organization. 1 Publication1
Mutagenesisi274F → A: Decreased interaction with CSNK1A1 and loss of function in keratin cytoskeleton organization. 1 Publication1

Keywords - Diseasei

Amelogenesis imperfecta, Disease mutation

Organism-specific databases

DisGeNETi286077
MalaCardsiFAM83H
MIMi130900 phenotype
OpenTargetsiENSG00000180921
Orphaneti100032 Hypocalcified amelogenesis imperfecta
PharmGKBiPA144596434

Polymorphism and mutation databases

BioMutaiFAM83H
DMDMi296439349

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003244881 – 1179Protein FAM83HAdd BLAST1179

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei465PhosphothreonineCombined sources1
Modified residuei513PhosphoserineCombined sources1
Modified residuei514PhosphoserineCombined sources1
Modified residuei516PhosphoserineCombined sources1
Modified residuei523PhosphoserineCombined sources1
Modified residuei647PhosphoserineCombined sources1
Modified residuei667PhosphoserineCombined sources1
Modified residuei756PhosphothreonineCombined sources1
Modified residuei759PhosphoserineCombined sources1
Modified residuei785PhosphoserineCombined sources1
Modified residuei813PhosphoserineCombined sources1
Modified residuei870PhosphoserineCombined sources1
Modified residuei881PhosphoserineCombined sources1
Modified residuei883PhosphothreonineCombined sources1
Modified residuei892PhosphoserineCombined sources1
Modified residuei894PhosphothreonineBy similarity1
Modified residuei903PhosphoserineCombined sources1
Modified residuei914PhosphoserineCombined sources1
Modified residuei925PhosphoserineCombined sources1
Modified residuei936PhosphoserineCombined sources1
Modified residuei945PhosphoserineCombined sources1
Modified residuei1003PhosphoserineCombined sources1
Modified residuei1009PhosphoserineBy similarity1
Modified residuei1024PhosphoserineCombined sources1
Modified residuei1025PhosphoserineCombined sources1
Modified residuei1040PhosphothreonineCombined sources1
Modified residuei1048PhosphoserineCombined sources1
Modified residuei1068PhosphoserineCombined sources1
Modified residuei1147PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ6ZRV2
MaxQBiQ6ZRV2
PaxDbiQ6ZRV2
PeptideAtlasiQ6ZRV2
PRIDEiQ6ZRV2
ProteomicsDBi68170

PTM databases

iPTMnetiQ6ZRV2
PhosphoSitePlusiQ6ZRV2
SwissPalmiQ6ZRV2

Expressioni

Tissue specificityi

Expressed in the tooth follicle.1 Publication

Gene expression databases

BgeeiENSG00000180921 Expressed in 151 organ(s), highest expression level in vagina
CleanExiHS_FAM83H
ExpressionAtlasiQ6ZRV2 baseline and differential
GenevisibleiQ6ZRV2 HS

Organism-specific databases

HPAiHPA024505
HPA024604

Interactioni

Subunit structurei

Interacts with CSNK1A1; recruits CSNK1A1 to keratin filaments. Interacts with KRT18 and probably other keratins.1 Publication

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

BioGridi130292, 66 interactors
IntActiQ6ZRV2, 34 interactors
MINTiQ6ZRV2
STRINGi9606.ENSP00000373565

Structurei

3D structure databases

ProteinModelPortaliQ6ZRV2
SMRiQ6ZRV2
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni1 – 286Mediates interaction with CSNK1A1 and is required for FAM83H activity in keratin cytoskeleton organization1 PublicationAdd BLAST286

Sequence similaritiesi

Belongs to the FAM83 family.Curated

Phylogenomic databases

eggNOGiENOG410IEPN Eukaryota
ENOG410YB0T LUCA
GeneTreeiENSGT00760000119168
HOGENOMiHOG000112488
HOVERGENiHBG107907
InParanoidiQ6ZRV2
OMAiEMDAFKR
OrthoDBiEOG091G00UI
PhylomeDBiQ6ZRV2
TreeFamiTF330777

Family and domain databases

InterProiView protein in InterPro
IPR012461 FAM83
PANTHERiPTHR16181 PTHR16181, 1 hit
PfamiView protein in Pfam
PF07894 DUF1669, 1 hit

Sequence (1+)i

Sequence statusi: Complete.

This entry has 1 described isoform and 1 potential isoform that is computationally mapped.Show allAlign All

Q6ZRV2-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MARRSQSSSQ GDNPLAPGYL PPHYKEYYRL AVDALAEGGS EAYSRFLATE 
        60         70         80         90        100
GAPDFLCPEE LEHVSRHLRP PQYVTREPPE GSLLDVDMDG SSGTYWPVNS 
       110        120        130        140        150
DQAVPELDLG WPLTFGFQGT EVTTLVQPPP PDSPSIKDEA RRMIRSAQQV 
       160        170        180        190        200
VAVVMDMFTD VDLLSEVLEA AARRVPVYIL LDEMNAQHFL DMADKCRVNL 
       210        220        230        240        250
QHVDFLRVRT VAGPTYYCRT GKSFKGHVKE KFLLVDCAVV MSGSYSFMWS 
       260        270        280        290        300
FEKIHRSLAH VFQGELVSSF DEEFRILFAQ SEPLVPSAAA LARMDAYALA 
       310        320        330        340        350
PYAGAGPLVG VPGVGAPTPF SFPKRAHLLF PPPREEGLGF PSFLDPDRHF 
       360        370        380        390        400
LSAFRREEPP RMPGGALEPH AGLRPLSRRL EAEAGPAGEL AGARGFFQAR 
       410        420        430        440        450
HLEMDAFKRH SFATEGAGAV ENFAAARQVS RQTFLSHGDD FRFQTSHFHR 
       460        470        480        490        500
DQLYQQQYQW DPQLTPARPQ GLFEKLRGGR AGFADPDDFT LGAGPRFPEL 
       510        520        530        540        550
GPDGHQRLDY VPSSASREVR HGSDPAFAPG PRGLEPSGAP RPNLTQRFPC 
       560        570        580        590        600
QAAARPGPDP APEAEPERRG GPEGRAGLRR WRLASYLSGC HGEDGGDDGL 
       610        620        630        640        650
PAPMEAEAYE DDVLAPGGRA PAGDLLPSAF RVPAAFPTKV PVPGPGSGGN 
       660        670        680        690        700
GPEREGPEEP GLAKQDSFRS RLNPLVQRSS RLRSSLIFST SQAEGAAGAA 
       710        720        730        740        750
AATEKVQLLH KEQTVSETLG PGGEAVRSAA STKVAELLEK YKGPARDPGG 
       760        770        780        790        800
GAGAITVASH SKAVVSQAWR EEVAAPGAVG GERRSLESCL LDLRDSFAQQ 
       810        820        830        840        850
LHQEAERQPG AASLTAAQLL DTLGRSGSDR LPSRFLSAQS HSTSPQGLDS 
       860        870        880        890        900
PLPLEGSGAH QVLHNESKGS PTSAYPERKG SPTPGFSTRR GSPTTGFIEQ 
       910        920        930        940        950
KGSPTSAYPE RRGSPVPPVP ERRSSPVPPV PERRGSLTLT ISGESPKAGP 
       960        970        980        990       1000
AEEGPSGPME VLRKGSLRLR QLLSPKGERR MEDEGGFPVP QENGQPESPR 
      1010       1020       1030       1040       1050
RLSLGQGDST EAATEERGPR ARLSSATANA LYSSNLRDDT KAILEQISAH 
      1060       1070       1080       1090       1100
GQKHRAVPAP SPGPTHNSPE LGRPPAAGVL APDMSDKDKC SAIFRSDSLG 
      1110       1120       1130       1140       1150
TQGRLSRTLP ASAEERDRLL RRMESMRKEK RVYSRFEVFC KKEEASSPGA 
      1160       1170 
GEGPAEEGTR DSKVGKFVPK ILGTFKSKK
Length:1,179
Mass (Da):127,122
Last modified:May 18, 2010 - v3
Checksum:iD35A1822D8E517F0
GO

Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
J3KPS2J3KPS2_HUMAN
Protein FAM83H
FAM83H
906Annotation score:

Sequence cautioni

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

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti605E → V in BAC87207 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_062189201Q → H. Corresponds to variant dbSNP:rs9969600Ensembl.1
Natural variantiVAR_073954557G → C in AI3A; mild form. 1 PublicationCorresponds to variant dbSNP:rs312262803Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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_005250889.3
UniGeneiHs.67776
Hs.713170

Genome annotation databases

EnsembliENST00000388913; ENSP00000373565; ENSG00000180921
ENST00000612192; ENSP00000478790; ENSG00000273889
GeneIDi286077
KEGGihsa:286077
UCSCiuc064rej.1 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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_005250889.3
UniGeneiHs.67776
Hs.713170

3D structure databases

ProteinModelPortaliQ6ZRV2
SMRiQ6ZRV2
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi130292, 66 interactors
IntActiQ6ZRV2, 34 interactors
MINTiQ6ZRV2
STRINGi9606.ENSP00000373565

PTM databases

iPTMnetiQ6ZRV2
PhosphoSitePlusiQ6ZRV2
SwissPalmiQ6ZRV2

Polymorphism and mutation databases

BioMutaiFAM83H
DMDMi296439349

Proteomic databases

EPDiQ6ZRV2
MaxQBiQ6ZRV2
PaxDbiQ6ZRV2
PeptideAtlasiQ6ZRV2
PRIDEiQ6ZRV2
ProteomicsDBi68170

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000388913; ENSP00000373565; ENSG00000180921
ENST00000612192; ENSP00000478790; ENSG00000273889
GeneIDi286077
KEGGihsa:286077
UCSCiuc064rej.1 human

Organism-specific databases

CTDi286077
DisGeNETi286077
EuPathDBiHostDB:ENSG00000180921.6
GeneCardsiFAM83H
H-InvDBiHIX0025555
HGNCiHGNC:24797 FAM83H
HPAiHPA024505
HPA024604
MalaCardsiFAM83H
MIMi130900 phenotype
611927 gene
neXtProtiNX_Q6ZRV2
OpenTargetsiENSG00000180921
Orphaneti100032 Hypocalcified amelogenesis imperfecta
PharmGKBiPA144596434
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IEPN Eukaryota
ENOG410YB0T LUCA
GeneTreeiENSGT00760000119168
HOGENOMiHOG000112488
HOVERGENiHBG107907
InParanoidiQ6ZRV2
OMAiEMDAFKR
OrthoDBiEOG091G00UI
PhylomeDBiQ6ZRV2
TreeFamiTF330777

Miscellaneous databases

GeneWikiiFAM83H
GenomeRNAii286077
PROiPR:Q6ZRV2
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000180921 Expressed in 151 organ(s), highest expression level in vagina
CleanExiHS_FAM83H
ExpressionAtlasiQ6ZRV2 baseline and differential
GenevisibleiQ6ZRV2 HS

Family and domain databases

InterProiView protein in InterPro
IPR012461 FAM83
PANTHERiPTHR16181 PTHR16181, 1 hit
PfamiView protein in Pfam
PF07894 DUF1669, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiFA83H_HUMAN
AccessioniPrimary (citable) accession number: Q6ZRV2
Secondary accession number(s): A0JLS2, Q8N4W0
Entry historyiIntegrated into UniProtKB/Swiss-Prot: March 18, 2008
Last sequence update: May 18, 2010
Last modified: September 12, 2018
This is version 107 of the entry and version 3 of the sequence. See 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. SIMILARITY comments
    Index of protein domains and families
  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. Human chromosome 8
    Human chromosome 8: entries, gene names and cross-references to MIM
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