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UniProtKB - Q6ZRV2 (FA83H_HUMAN)

Entry version 115 (16 Oct 2019)
Sequence version 3 (18 May 2010)
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Protein

Protein FAM83H

Gene

FAM83H

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

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>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

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Biological processBiomineralization

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Protein FAM83HCurated
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:FAM83HImported
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 8

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:24797 FAM83H

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		611927 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q6ZRV2

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>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 & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Cytoskeleton

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_073954557G → C in AI3A; mild form. 1 PublicationCorresponds to variant dbSNP:rs312262803Ensembl.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>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

DisGeNET

More...DisGeNETi		286077

MalaCards human disease database

More...MalaCardsi		FAM83H
MIMi130900 phenotype

Open Targets

More...OpenTargetsi		ENSG00000180921

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		100032 Hypocalcified amelogenesis imperfecta

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA144596434

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q6ZRV2

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		FAM83H

Domain mapping of disease mutations (DMDM)

More...DMDMi		296439349

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00003244881 – 1179Protein FAM83HAdd BLAST1179

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>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

The CPTAC Assay portal

More...CPTACi		CPTAC-367
CPTAC-368

Encyclopedia of Proteome Dynamics

More...EPDi		Q6ZRV2

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q6ZRV2

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q6ZRV2

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q6ZRV2

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		Q6ZRV2

PeptideAtlas

More...PeptideAtlasi		Q6ZRV2

PRoteomics IDEntifications database

More...PRIDEi		Q6ZRV2

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		68170

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q6ZRV2

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		Q6ZRV2

SwissPalm database of S-palmitoylation events

More...SwissPalmi		Q6ZRV2

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Expressed in the tooth follicle.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000180921 Expressed in 151 organ(s), highest expression level in vagina

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q6ZRV2 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q6ZRV2 HS

Organism-specific databases

Human Protein Atlas

More...HPAi		HPA024505
HPA024604

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with CSNK1A1; recruits CSNK1A1 to keratin filaments.

Interacts with KRT18 and probably other keratins.

1 Publication

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...BioGridi		130292, 74 interactors

Protein interaction database and analysis system

More...IntActi		Q6ZRV2, 54 interactors

Molecular INTeraction database

More...MINTi		Q6ZRV2

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000373565

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		Q6ZRV2

Database of comparative protein structure models

More...ModBasei		Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni1 – 286Mediates interaction with CSNK1A1 and is required for FAM83H activity in keratin cytoskeleton organization1 PublicationAdd BLAST286

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the FAM83 family.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		ENOG410IEPN Eukaryota
ENOG410YB0T LUCA

Ensembl GeneTree

More...GeneTreei		ENSGT00940000159342

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		HOG000112488

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q6ZRV2

Identification of Orthologs from Complete Genome Data

More...OMAi		KHRVMNN

Database of Orthologous Groups

More...OrthoDBi		84242at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q6ZRV2

TreeFam database of animal gene trees

More...TreeFami		TF330777

Family and domain databases

Conserved Domains Database

More...CDDi		cd09188 PLDc_FAM83H_N, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR012461 FAM83_N
IPR041996 PLDc_FAM83H_N

Pfam protein domain database

More...Pfami		View protein in Pfam
PF07894 FAM83, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequence (1+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>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
« 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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iD35A1822D8E517F0
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
J3KPS2J3KPS2_HUMAN
Protein FAM83H
FAM83H
906Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A494C1T9A0A494C1T9_HUMAN
Protein FAM83H
FAM83H
1,380Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence BAC87207 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>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:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...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

The Consensus CDS (CCDS) project

More...CCDSi		CCDS6410.2

NCBI Reference Sequences

More...RefSeqi		NP_940890.3, NM_198488.3
XP_005250946.1, XM_005250889.3

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000388913; ENSP00000373565; ENSG00000180921
ENST00000612192; ENSP00000478790; ENSG00000273889

Database of genes from NCBI RefSeq genomes

More...GeneIDi		286077

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:286077

UCSC genome browser

More...UCSCi		uc064rej.1 human

Keywords - Coding sequence diversityi

Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>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

3D structure databases

SMRiQ6ZRV2
ModBaseiSearch...

Protein-protein interaction databases

BioGridi130292, 74 interactors
IntActiQ6ZRV2, 54 interactors
MINTiQ6ZRV2
STRINGi9606.ENSP00000373565

PTM databases

iPTMnetiQ6ZRV2
PhosphoSitePlusiQ6ZRV2
SwissPalmiQ6ZRV2

Polymorphism and mutation databases

BioMutaiFAM83H
DMDMi296439349

Proteomic databases

CPTACiCPTAC-367
CPTAC-368
EPDiQ6ZRV2
jPOSTiQ6ZRV2
MassIVEiQ6ZRV2
MaxQBiQ6ZRV2
PaxDbiQ6ZRV2
PeptideAtlasiQ6ZRV2
PRIDEiQ6ZRV2
ProteomicsDBi68170

Genome annotation databases

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

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		286077
DisGeNETi286077

GeneCards: human genes, protein and diseases

More...GeneCardsi		FAM83H
HGNCiHGNC:24797 FAM83H
HPAiHPA024505
HPA024604
MalaCardsiFAM83H
MIMi130900 phenotype
611927 gene
neXtProtiNX_Q6ZRV2
OpenTargetsiENSG00000180921
Orphaneti100032 Hypocalcified amelogenesis imperfecta
PharmGKBiPA144596434

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiENOG410IEPN Eukaryota
ENOG410YB0T LUCA
GeneTreeiENSGT00940000159342
HOGENOMiHOG000112488
InParanoidiQ6ZRV2
OMAiKHRVMNN
OrthoDBi84242at2759
PhylomeDBiQ6ZRV2
TreeFamiTF330777

Miscellaneous databases

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		FAM83H

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		286077
PharosiQ6ZRV2

Protein Ontology

More...PROi		PR:Q6ZRV2

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

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

Family and domain databases

CDDicd09188 PLDc_FAM83H_N, 1 hit
InterProiView protein in InterPro
IPR012461 FAM83_N
IPR041996 PLDc_FAM83H_N
PfamiView protein in Pfam
PF07894 FAM83, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiFA83H_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q6ZRV2
Secondary accession number(s): A0JLS2, Q8N4W0
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: March 18, 2008
Last sequence update: May 18, 2010
Last modified: October 16, 2019
This is version 115 of the entry and version 3 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human chromosome 8
    Human chromosome 8: entries, gene names and cross-references to MIM
  5. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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