We will be switching to the new UniProt website on Tuesday, June 28. Please explore and share your feedback.
Take me to UniProt BETA
UniProtKB - Q6ZRV2 (FA83H_HUMAN)
Protein
Protein FAM83H
Gene
FAM83H
Organism
Homo sapiens (Human)
Status
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 PublicationsGO - Molecular functioni
- keratin filament binding Source: UniProtKB
- protein kinase binding Source: UniProtKB
GO - Biological processi
- biomineral tissue development Source: UniProtKB-KW
- intermediate filament cytoskeleton organization Source: UniProtKB
- positive regulation of cell migration Source: UniProtKB
- protein localization to cytoskeleton Source: UniProtKB
- signal transduction Source: GO_Central
Keywordsi
Biological process | Biomineralization |
Enzyme and pathway databases
PathwayCommonsi | Q6ZRV2 |
SignaLinki | Q6ZRV2 |
Names & Taxonomyi
Protein namesi | Recommended name: Protein FAM83HCurated |
Gene namesi | Name:FAM83HImported |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:24797, FAM83H |
MIMi | 611927, gene |
neXtProti | NX_Q6ZRV2 |
VEuPathDBi | HostDB:ENSG00000180921 |
Subcellular locationi
Cytoskeleton
- cytoskeleton 1 Publication
Note: Colocalizes with keratin filaments.1 Publication
Cytoskeleton
- cytoskeleton Source: UniProtKB-SubCell
Other locations
- cytoplasm Source: UniProtKB-KW
Keywords - Cellular componenti
Cytoplasm, CytoskeletonPathology & Biotechi
Involvement in diseasei
Amelogenesis imperfecta 3A (AI3A)2 Publications
The disease is caused by variants 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.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_073954 | 557 | G → C in AI3A; mild form. 1 PublicationCorresponds to variant dbSNP:rs312262803EnsemblClinVar. | 1 |
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 251 | F → A: No effect on interaction with CSNK1A1 and function in keratin cytoskeleton organization. 1 Publication | 1 | |
Mutagenesisi | 274 | F → A: Decreased interaction with CSNK1A1 and loss of function in keratin cytoskeleton organization. 1 Publication | 1 |
Keywords - Diseasei
Amelogenesis imperfecta, Disease variantOrganism-specific databases
DisGeNETi | 286077 |
MalaCardsi | FAM83H |
MIMi | 130900, phenotype |
OpenTargetsi | ENSG00000180921 |
Orphaneti | 100032, Hypocalcified amelogenesis imperfecta |
PharmGKBi | PA144596434 |
Miscellaneous databases
Pharosi | Q6ZRV2, Tbio |
Genetic variation databases
BioMutai | FAM83H |
DMDMi | 296439349 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000324488 | 1 – 1179 | Protein FAM83HAdd BLAST | 1179 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 465 | PhosphothreonineCombined sources | 1 | |
Modified residuei | 513 | PhosphoserineCombined sources | 1 | |
Modified residuei | 514 | PhosphoserineCombined sources | 1 | |
Modified residuei | 516 | PhosphoserineCombined sources | 1 | |
Modified residuei | 523 | PhosphoserineCombined sources | 1 | |
Modified residuei | 647 | PhosphoserineCombined sources | 1 | |
Modified residuei | 667 | PhosphoserineCombined sources | 1 | |
Modified residuei | 756 | PhosphothreonineCombined sources | 1 | |
Modified residuei | 759 | PhosphoserineCombined sources | 1 | |
Modified residuei | 785 | PhosphoserineCombined sources | 1 | |
Modified residuei | 813 | PhosphoserineCombined sources | 1 | |
Modified residuei | 870 | PhosphoserineCombined sources | 1 | |
Modified residuei | 881 | PhosphoserineCombined sources | 1 | |
Modified residuei | 883 | PhosphothreonineCombined sources | 1 | |
Modified residuei | 892 | PhosphoserineCombined sources | 1 | |
Modified residuei | 894 | PhosphothreonineBy similarity | 1 | |
Modified residuei | 903 | PhosphoserineCombined sources | 1 | |
Modified residuei | 914 | PhosphoserineCombined sources | 1 | |
Modified residuei | 925 | PhosphoserineCombined sources | 1 | |
Modified residuei | 936 | PhosphoserineCombined sources | 1 | |
Modified residuei | 945 | PhosphoserineCombined sources | 1 | |
Modified residuei | 1003 | PhosphoserineCombined sources | 1 | |
Modified residuei | 1009 | PhosphoserineBy similarity | 1 | |
Modified residuei | 1024 | PhosphoserineCombined sources | 1 | |
Modified residuei | 1025 | PhosphoserineCombined sources | 1 | |
Modified residuei | 1040 | PhosphothreonineCombined sources | 1 | |
Modified residuei | 1048 | PhosphoserineCombined sources | 1 | |
Modified residuei | 1068 | PhosphoserineCombined sources | 1 | |
Modified residuei | 1147 | PhosphoserineCombined sources | 1 |
Keywords - PTMi
PhosphoproteinProteomic databases
CPTACi | CPTAC-367 CPTAC-368 |
EPDi | Q6ZRV2 |
jPOSTi | Q6ZRV2 |
MassIVEi | Q6ZRV2 |
MaxQBi | Q6ZRV2 |
PaxDbi | Q6ZRV2 |
PeptideAtlasi | Q6ZRV2 |
PRIDEi | Q6ZRV2 |
ProteomicsDBi | 68170 |
PTM databases
iPTMneti | Q6ZRV2 |
PhosphoSitePlusi | Q6ZRV2 |
SwissPalmi | Q6ZRV2 |
Expressioni
Tissue specificityi
Expressed in the tooth follicle.1 Publication
Gene expression databases
Bgeei | ENSG00000180921, Expressed in vagina and 173 other tissues |
ExpressionAtlasi | Q6ZRV2, baseline and differential |
Genevisiblei | Q6ZRV2, HS |
Organism-specific databases
HPAi | ENSG00000180921, Tissue enhanced (esophagus, skin) |
Interactioni
Subunit structurei
Interacts with CSNK1A1; recruits CSNK1A1 to keratin filaments.
Interacts with KRT18 and probably other keratins.
1 PublicationBinary interactionsi
Q6ZRV2
With | #Exp. | IntAct |
---|---|---|
CSNK1A1 [P48729] | 11 | EBI-2556538,EBI-1383726 |
GO - Molecular functioni
- protein kinase binding Source: UniProtKB
Protein-protein interaction databases
BioGRIDi | 130292, 148 interactors |
IntActi | Q6ZRV2, 63 interactors |
MINTi | Q6ZRV2 |
STRINGi | 9606.ENSP00000373565 |
Miscellaneous databases
RNActi | Q6ZRV2, protein |
Family & Domainsi
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 1 – 286 | Mediates interaction with CSNK1A1 and is required for FAM83H activity in keratin cytoskeleton organization1 PublicationAdd BLAST | 286 | |
Regioni | 484 – 577 | DisorderedSequence analysisAdd BLAST | 94 | |
Regioni | 636 – 669 | DisorderedSequence analysisAdd BLAST | 34 | |
Regioni | 830 – 1026 | DisorderedSequence analysisAdd BLAST | 197 | |
Regioni | 1047 – 1084 | DisorderedSequence analysisAdd BLAST | 38 | |
Regioni | 1143 – 1165 | DisorderedSequence analysisAdd BLAST | 23 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 561 – 576 | Basic and acidic residuesSequence analysisAdd BLAST | 16 | |
Compositional biasi | 832 – 850 | Polar residuesSequence analysisAdd BLAST | 19 | |
Compositional biasi | 863 – 877 | Polar residuesSequence analysisAdd BLAST | 15 | |
Compositional biasi | 885 – 902 | Polar residuesSequence analysisAdd BLAST | 18 | |
Compositional biasi | 911 – 926 | Pro residuesSequence analysisAdd BLAST | 16 | |
Compositional biasi | 996 – 1010 | Polar residuesSequence analysisAdd BLAST | 15 |
Sequence similaritiesi
Belongs to the FAM83 family.Curated
Phylogenomic databases
eggNOGi | ENOG502QW7K, Eukaryota |
GeneTreei | ENSGT00940000159342 |
HOGENOMi | CLU_009734_0_0_1 |
InParanoidi | Q6ZRV2 |
OMAi | MESEAYN |
OrthoDBi | 84242at2759 |
PhylomeDBi | Q6ZRV2 |
TreeFami | TF330777 |
Family and domain databases
CDDi | cd09188, PLDc_FAM83H_N, 1 hit |
InterProi | View protein in InterPro IPR012461, FAM83_N IPR041996, PLDc_FAM83H_N |
Pfami | View protein in Pfam PF07894, FAM83, 1 hit |
(1+)i Sequence
Sequence statusi: Complete.
This entry has 1 described isoform and 2 potential isoforms that are computationally mapped.Show allAlign All
Q6ZRV2-1 [UniParc]FASTAAdd to basket
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
Computationally mapped potential isoform sequencesi
There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketA0A494C1T9 | A0A494C1T9_HUMAN | Protein FAM83H | FAM83H | 1,380 | Annotation score: | ||
J3KPS2 | J3KPS2_HUMAN | Protein FAM83H | FAM83H | 906 | Annotation score: |
Sequence cautioni
The sequence BAC87207 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 605 | E → V in BAC87207 (PubMed:14702039).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_062189 | 201 | Q → H. Corresponds to variant dbSNP:rs9969600Ensembl. | 1 | |
Natural variantiVAR_073954 | 557 | G → C in AI3A; mild form. 1 PublicationCorresponds to variant dbSNP:rs312262803EnsemblClinVar. | 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 |
CCDSi | CCDS6410.2 |
RefSeqi | NP_940890.3, NM_198488.3 XP_005250946.1, XM_005250889.3 |
Genome annotation databases
Ensembli | ENST00000388913.4; ENSP00000373565.3; ENSG00000180921.7 ENST00000612192.2; ENSP00000478790.1; ENSG00000273889.2 |
GeneIDi | 286077 |
KEGGi | hsa:286077 |
MANE-Selecti | ENST00000388913.4; ENSP00000373565.3; NM_198488.5; NP_940890.4 |
UCSCi | uc064rej.1, human |
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 |
CCDSi | CCDS6410.2 |
RefSeqi | NP_940890.3, NM_198488.3 XP_005250946.1, XM_005250889.3 |
3D structure databases
AlphaFoldDBi | Q6ZRV2 |
SMRi | Q6ZRV2 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 130292, 148 interactors |
IntActi | Q6ZRV2, 63 interactors |
MINTi | Q6ZRV2 |
STRINGi | 9606.ENSP00000373565 |
PTM databases
iPTMneti | Q6ZRV2 |
PhosphoSitePlusi | Q6ZRV2 |
SwissPalmi | Q6ZRV2 |
Genetic variation databases
BioMutai | FAM83H |
DMDMi | 296439349 |
Proteomic databases
CPTACi | CPTAC-367 CPTAC-368 |
EPDi | Q6ZRV2 |
jPOSTi | Q6ZRV2 |
MassIVEi | Q6ZRV2 |
MaxQBi | Q6ZRV2 |
PaxDbi | Q6ZRV2 |
PeptideAtlasi | Q6ZRV2 |
PRIDEi | Q6ZRV2 |
ProteomicsDBi | 68170 |
Protocols and materials databases
Antibodypediai | 14675, 38 antibodies from 12 providers |
DNASUi | 286077 |
Genome annotation databases
Ensembli | ENST00000388913.4; ENSP00000373565.3; ENSG00000180921.7 ENST00000612192.2; ENSP00000478790.1; ENSG00000273889.2 |
GeneIDi | 286077 |
KEGGi | hsa:286077 |
MANE-Selecti | ENST00000388913.4; ENSP00000373565.3; NM_198488.5; NP_940890.4 |
UCSCi | uc064rej.1, human |
Organism-specific databases
CTDi | 286077 |
DisGeNETi | 286077 |
GeneCardsi | FAM83H |
HGNCi | HGNC:24797, FAM83H |
HPAi | ENSG00000180921, Tissue enhanced (esophagus, skin) |
MalaCardsi | FAM83H |
MIMi | 130900, phenotype 611927, gene |
neXtProti | NX_Q6ZRV2 |
OpenTargetsi | ENSG00000180921 |
Orphaneti | 100032, Hypocalcified amelogenesis imperfecta |
PharmGKBi | PA144596434 |
VEuPathDBi | HostDB:ENSG00000180921 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | ENOG502QW7K, Eukaryota |
GeneTreei | ENSGT00940000159342 |
HOGENOMi | CLU_009734_0_0_1 |
InParanoidi | Q6ZRV2 |
OMAi | MESEAYN |
OrthoDBi | 84242at2759 |
PhylomeDBi | Q6ZRV2 |
TreeFami | TF330777 |
Enzyme and pathway databases
PathwayCommonsi | Q6ZRV2 |
SignaLinki | Q6ZRV2 |
Miscellaneous databases
BioGRID-ORCSi | 286077, 42 hits in 1079 CRISPR screens |
GeneWikii | FAM83H |
GenomeRNAii | 286077 |
Pharosi | Q6ZRV2, Tbio |
PROi | PR:Q6ZRV2 |
RNActi | Q6ZRV2, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000180921, Expressed in vagina and 173 other tissues |
ExpressionAtlasi | Q6ZRV2, baseline and differential |
Genevisiblei | Q6ZRV2, HS |
Family and domain databases
CDDi | cd09188, PLDc_FAM83H_N, 1 hit |
InterProi | View protein in InterPro IPR012461, FAM83_N IPR041996, PLDc_FAM83H_N |
Pfami | View protein in Pfam PF07894, FAM83, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | FA83H_HUMAN | |
Accessioni | Q6ZRV2Primary (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: | May 25, 2022 | |
This is version 128 of the entry and version 3 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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
Reference proteomeDocuments
- Human chromosome 8
Human chromosome 8: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families