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Protein

Protein FAM83H

Gene

FAM83H

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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

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
Complete GO annotation...

Keywords - Biological processi

Biomineralization

Names & Taxonomyi

Protein namesi
Recommended name:
Protein FAM83HCurated
Gene namesi
Name:FAM83HImported
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 8

Organism-specific databases

HGNCiHGNC:24797. FAM83H.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Cytoskeleton

Pathology & Biotechi

Involvement in diseasei

Amelogenesis imperfecta 3 (AI3)1 Publication
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. AI3 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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti557 – 5571G → C in AI3; familial case; mild form. 1 Publication
Corresponds to variant rs312262803 [ dbSNP | Ensembl ].
VAR_073954

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi251 – 2511F → A: No effect on interaction with CSNK1A1 and function in keratin cytoskeleton organization. 1 Publication
Mutagenesisi274 – 2741F → A: Decreased interaction with CSNK1A1 and loss of function in keratin cytoskeleton organization. 1 Publication

Keywords - Diseasei

Amelogenesis imperfecta, Disease mutation

Organism-specific databases

MalaCardsiFAM83H.
MIMi130900. phenotype.
Orphaneti100032. Hypocalcified amelogenesis imperfecta.
PharmGKBiPA144596434.

Polymorphism and mutation databases

BioMutaiFAM83H.
DMDMi296439349.

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 – 4651PhosphothreonineCombined sources
Modified residuei513 – 5131PhosphoserineCombined sources
Modified residuei514 – 5141PhosphoserineCombined sources
Modified residuei516 – 5161PhosphoserineCombined sources
Modified residuei523 – 5231PhosphoserineCombined sources
Modified residuei647 – 6471PhosphoserineCombined sources
Modified residuei667 – 6671PhosphoserineCombined sources
Modified residuei756 – 7561PhosphothreonineCombined sources
Modified residuei759 – 7591PhosphoserineCombined sources
Modified residuei785 – 7851PhosphoserineCombined sources
Modified residuei813 – 8131PhosphoserineCombined sources
Modified residuei870 – 8701PhosphoserineCombined sources
Modified residuei881 – 8811PhosphoserineCombined sources
Modified residuei883 – 8831PhosphothreonineCombined sources
Modified residuei892 – 8921PhosphoserineCombined sources
Modified residuei894 – 8941PhosphothreonineBy similarity
Modified residuei903 – 9031PhosphoserineCombined sources
Modified residuei914 – 9141PhosphoserineCombined sources
Modified residuei925 – 9251PhosphoserineCombined sources
Modified residuei936 – 9361PhosphoserineCombined sources
Modified residuei945 – 9451PhosphoserineCombined sources
Modified residuei1003 – 10031PhosphoserineCombined sources
Modified residuei1009 – 10091PhosphoserineBy similarity
Modified residuei1024 – 10241PhosphoserineCombined sources
Modified residuei1025 – 10251PhosphoserineCombined sources
Modified residuei1040 – 10401PhosphothreonineCombined sources
Modified residuei1048 – 10481PhosphoserineCombined sources
Modified residuei1068 – 10681PhosphoserineCombined sources
Modified residuei1147 – 11471PhosphoserineCombined sources

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ6ZRV2.
MaxQBiQ6ZRV2.
PaxDbiQ6ZRV2.
PeptideAtlasiQ6ZRV2.
PRIDEiQ6ZRV2.

PTM databases

iPTMnetiQ6ZRV2.
PhosphoSiteiQ6ZRV2.
SwissPalmiQ6ZRV2.

Expressioni

Tissue specificityi

Expressed in the tooth follicle.1 Publication

Gene expression databases

BgeeiENSG00000180921.
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

  • keratin filament binding Source: UniProtKB
  • protein kinase binding Source: UniProtKB

Protein-protein interaction databases

BioGridi130292. 59 interactions.
IntActiQ6ZRV2. 29 interactions.
MINTiMINT-8330026.
STRINGi9606.ENSP00000373565.

Structurei

3D structure databases

ProteinModelPortaliQ6ZRV2.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni1 – 286286Mediates interaction with CSNK1A1 and is required for FAM83H activity in keratin cytoskeleton organization1 PublicationAdd
BLAST

Sequence similaritiesi

Belongs to the FAM83 family.Curated

Phylogenomic databases

eggNOGiENOG410IEPN. Eukaryota.
ENOG410YB0T. LUCA.
GeneTreeiENSGT00760000119168.
HOGENOMiHOG000112488.
HOVERGENiHBG107907.
InParanoidiQ6ZRV2.
OMAiGFFQARH.
OrthoDBiEOG091G00UI.
PhylomeDBiQ6ZRV2.
TreeFamiTF330777.

Family and domain databases

InterProiIPR012461. DUF1669.
[Graphical view]
PANTHERiPTHR16181. PTHR16181. 5 hits.
PfamiPF07894. DUF1669. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

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

Sequence cautioni

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

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
Natural varianti557 – 5571G → C in AI3; familial case; mild form. 1 Publication
Corresponds to variant rs312262803 [ dbSNP | Ensembl ].
VAR_073954

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

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.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi130292. 59 interactions.
IntActiQ6ZRV2. 29 interactions.
MINTiMINT-8330026.
STRINGi9606.ENSP00000373565.

PTM databases

iPTMnetiQ6ZRV2.
PhosphoSiteiQ6ZRV2.
SwissPalmiQ6ZRV2.

Polymorphism and mutation databases

BioMutaiFAM83H.
DMDMi296439349.

Proteomic databases

EPDiQ6ZRV2.
MaxQBiQ6ZRV2.
PaxDbiQ6ZRV2.
PeptideAtlasiQ6ZRV2.
PRIDEiQ6ZRV2.

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.
GeneCardsiFAM83H.
H-InvDBHIX0025555.
HGNCiHGNC:24797. FAM83H.
HPAiHPA024505.
HPA024604.
MalaCardsiFAM83H.
MIMi130900. phenotype.
611927. gene.
neXtProtiNX_Q6ZRV2.
Orphaneti100032. Hypocalcified amelogenesis imperfecta.
PharmGKBiPA144596434.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IEPN. Eukaryota.
ENOG410YB0T. LUCA.
GeneTreeiENSGT00760000119168.
HOGENOMiHOG000112488.
HOVERGENiHBG107907.
InParanoidiQ6ZRV2.
OMAiGFFQARH.
OrthoDBiEOG091G00UI.
PhylomeDBiQ6ZRV2.
TreeFamiTF330777.

Miscellaneous databases

GeneWikiiFAM83H.
GenomeRNAii286077.
PROiQ6ZRV2.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000180921.
CleanExiHS_FAM83H.
ExpressionAtlasiQ6ZRV2. baseline and differential.
GenevisibleiQ6ZRV2. HS.

Family and domain databases

InterProiIPR012461. DUF1669.
[Graphical view]
PANTHERiPTHR16181. PTHR16181. 5 hits.
PfamiPF07894. DUF1669. 1 hit.
[Graphical view]
ProtoNetiSearch...

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: September 7, 2016
This is version 94 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.