UniProtKB - Q9H4H8 (FA83D_HUMAN)
Protein
Protein FAM83D
Gene
FAM83D
Organism
Homo sapiens (Human)
Status
Functioni
Probable proto-oncogene that regulates cell proliferation, growth, migration and epithelial to mesenchymal transition. Through the degradation of FBXW7, may act indirectly on the expression and downstream signaling of MTOR, JUN and MYC (PubMed:24344117). May play also a role in cell proliferation through activation of the ERK1/ERK2 signaling cascade (PubMed:25646692). May also be important for proper chromosome congression and alignment during mitosis through its interaction with KIF22.3 Publications
Miscellaneous
Was named CHICA (girl in Spanish) because it interacts with KID.
GO - Molecular functioni
- kinesin binding Source: UniProtKB
- microtubule binding Source: UniProtKB
- protein kinase binding Source: UniProtKB
GO - Biological processi
- cell division Source: UniProtKB-KW
- cell migration Source: UniProtKB
- cell population proliferation Source: UniProtKB
- epithelial to mesenchymal transition Source: UniProtKB
- metaphase plate congression Source: UniProtKB
- positive regulation of cell cycle G1/S phase transition Source: UniProtKB
- protein localization to mitotic spindle Source: UniProtKB
- regulation of ERK1 and ERK2 cascade Source: UniProtKB
- regulation of protein catabolic process Source: UniProtKB
- regulation of TOR signaling Source: UniProtKB
- signal transduction Source: GO_Central
Keywordsi
Biological process | Cell cycle, Cell division, Mitosis |
Enzyme and pathway databases
PathwayCommonsi | Q9H4H8 |
Names & Taxonomyi
Protein namesi | Recommended name: Protein FAM83DCuratedAlternative name(s): Spindle protein CHICA1 Publication |
Gene namesi | |
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:16122, FAM83D |
MIMi | 618380, gene |
neXtProti | NX_Q9H4H8 |
VEuPathDBi | HostDB:ENSG00000101447.13 |
Subcellular locationi
Cytoskeleton
- spindle 1 Publication
- spindle pole 2 Publications
Cytoplasm and Cytosol
- Cytoplasm 1 Publication
Note: Primarily cytoplasmic during interphase, but at prophase, associates with spindle microtubules, with a clear concentration toward the spindle poles. It persists on spindle microtubules through metaphase and anaphase.1 Publication
Cytoskeleton
- microtubule cytoskeleton Source: HPA
- mitotic spindle Source: HPA
- mitotic spindle pole Source: UniProtKB
- spindle Source: UniProtKB
Cytosol
- cytosol Source: HPA
Extracellular region or secreted
- intercellular bridge Source: HPA
Other locations
- cytoplasm Source: UniProtKB
Keywords - Cellular componenti
Cytoplasm, CytoskeletonPathology & Biotechi
Keywords - Diseasei
Proto-oncogeneOrganism-specific databases
DisGeNETi | 81610 |
OpenTargetsi | ENSG00000101447 |
PharmGKBi | PA25670 |
Miscellaneous databases
Pharosi | Q9H4H8, Tbio |
Genetic variation databases
BioMutai | FAM83D |
DMDMi | 25452904 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000079460 | 1 – 585 | Protein FAM83DAdd BLAST | 585 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 298 | PhosphoserineCombined sources | 1 | |
Modified residuei | 462 | PhosphoserineCombined sources | 1 | |
Modified residuei | 513 | PhosphothreonineCombined sources | 1 | |
Modified residuei | 568 | PhosphoserineCombined sources | 1 |
Post-translational modificationi
Phosphorylated during mitosis.1 Publication
Keywords - PTMi
PhosphoproteinProteomic databases
EPDi | Q9H4H8 |
jPOSTi | Q9H4H8 |
MassIVEi | Q9H4H8 |
MaxQBi | Q9H4H8 |
PaxDbi | Q9H4H8 |
PeptideAtlasi | Q9H4H8 |
PRIDEi | Q9H4H8 |
ProteomicsDBi | 80838 [Q9H4H8-1] 80839 [Q9H4H8-2] |
PTM databases
iPTMneti | Q9H4H8 |
PhosphoSitePlusi | Q9H4H8 |
Expressioni
Inductioni
Up-regulated during mitosis.1 Publication
Gene expression databases
Bgeei | ENSG00000101447, Expressed in lower esophagus muscularis layer and 158 other tissues |
ExpressionAtlasi | Q9H4H8, baseline and differential |
Genevisiblei | Q9H4H8, HS |
Organism-specific databases
HPAi | ENSG00000101447, Tissue enhanced (esophagus, smooth muscle) |
Interactioni
Subunit structurei
Binary interactionsi
Q9H4H8
With | #Exp. | IntAct |
---|---|---|
CSNK1A1 [P48729] | 5 | EBI-2556127,EBI-1383726 |
GO - Molecular functioni
- kinesin binding Source: UniProtKB
- microtubule binding Source: UniProtKB
- protein kinase binding Source: UniProtKB
Protein-protein interaction databases
BioGRIDi | 123547, 47 interactors |
IntActi | Q9H4H8, 32 interactors |
MINTi | Q9H4H8 |
STRINGi | 9606.ENSP00000481110 |
Miscellaneous databases
RNActi | Q9H4H8, protein |
Structurei
Secondary structure
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details3D structure databases
SMRi | Q9H4H8 |
ModBasei | Search... |
PDBe-KBi | Search... |
Family & Domainsi
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 340 – 585 | Required for interaction with KIF22 and function in chromosome congression1 PublicationAdd BLAST | 246 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 80 – 86 | Poly-Ala | 7 | |
Compositional biasi | 458 – 496 | Ser-richAdd BLAST | 39 |
Sequence similaritiesi
Belongs to the FAM83 family.Curated
Phylogenomic databases
eggNOGi | ENOG502RC3Z, Eukaryota |
GeneTreei | ENSGT00940000158405 |
HOGENOMi | CLU_040298_0_0_1 |
InParanoidi | Q9H4H8 |
OrthoDBi | 433035at2759 |
PhylomeDBi | Q9H4H8 |
TreeFami | TF330777 |
Family and domain databases
InterProi | View protein in InterPro IPR012461, FAM83_N |
Pfami | View protein in Pfam PF07894, FAM83, 1 hit |
s (2+)i Sequence
Sequence statusi: Complete.
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 2 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All
Isoform 1 (identifier: Q9H4H8-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MALLSEGLDE VPAACLSPCG PPNPTELFSE SRRLALEELV AGGPEAFAAF
60 70 80 90 100
LRRERLARFL NPDEVHAILR AAERPGEEGA AAAAAAEDSF GSSHDCSSGT
110 120 130 140 150
YFPEQSDLEP PLLELGWPAF YQGAYRGATR VETHFQPRGA GEGGPYGCKD
160 170 180 190 200
ALRQQLRSAR EVIAVVMDVF TDIDIFRDLQ EICRKQGVAV YILLDQALLS
210 220 230 240 250
QFLDMCMDLK VHPEQEKLMT VRTITGNIYY ARSGTKIIGK VHEKFTLIDG
260 270 280 290 300
IRVATGSYSF TWTDGKLNSS NLVILSGQVV EHFDLEFRIL YAQSKPISPK
310 320 330 340 350
LLSHFQSSNK FDHLTNRKPQ SKELTLGNLL RMRLARLSST PRKADLDPEM
360 370 380 390 400
PAEGKAERKP HDCESSTVSE EDYFSSHRDE LQSRKAIDAA TQTEPGEEMP
410 420 430 440 450
GLSVSEVGTQ TSITTACAGT QTAVITRIAS SQTTIWSRST TTQTDMDENI
460 470 480 490 500
LFPRGTQSTE GSPVSKMSVS RSSSLKSSSS VSSQGSVASS TGSPASIRTT
510 520 530 540 550
DFHNPGYPKY LGTPHLELYL SDSLRNLNKE RQFHFAGIRS RLNHMLAMLS
560 570 580
RRTLFTENHL GLHSGNFSRV NLLAVRDVAL YPSYQ
Computationally mapped potential isoform sequencesi
There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basketA0A087WXK8 | A0A087WXK8_HUMAN | Chromosome 20 open reading frame 12... | FAM83D C20orf129, hCG_38062 | 615 | Annotation score: |
Sequence cautioni
The sequence AAH01068 differs from that shown. Reason: Erroneous initiation. Extended N-terminus.Curated
The sequence AAH06553 differs from that shown. Reason: Erroneous initiation. Extended N-terminus.Curated
The sequence AAH53683 differs from that shown. Reason: Erroneous initiation. Extended N-terminus.Curated
The sequence AAH63661 differs from that shown. Reason: Erroneous initiation. Extended N-terminus.Curated
The sequence AAH80188 differs from that shown. Reason: Erroneous initiation. Extended N-terminus.Curated
The sequence BAB71016 differs from that shown. Reason: Erroneous initiation. Extended N-terminus.Curated
The sequence BAB71016 differs from that shown. Reason: Erroneous termination. Truncated C-terminus.Curated
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 11 | V → L in AAH01068 (PubMed:15489334).Curated | 1 | |
Sequence conflicti | 11 | V → L in AAH06553 (PubMed:15489334).Curated | 1 | |
Sequence conflicti | 11 | V → L in AAH63661 (PubMed:15489334).Curated | 1 | |
Sequence conflicti | 79 | G → GA in AAH53683 (PubMed:15489334).Curated | 1 | |
Sequence conflicti | 242 | H → R in BAG64799 (PubMed:11780052).Curated | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_036446 | 123 – 138 | Missing in isoform 2. 1 PublicationAdd BLAST | 16 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AK055793 mRNA Translation: BAB71016.1 Sequence problems. AK303860 mRNA Translation: BAG64799.1 AL023803 Genomic DNA No translation available. BC001068 mRNA Translation: AAH01068.2 Different initiation. BC006553 mRNA Translation: AAH06553.3 Different initiation. BC053683 mRNA Translation: AAH53683.1 Different initiation. BC063661 mRNA Translation: AAH63661.1 Different initiation. BC080188 mRNA Translation: AAH80188.1 Different initiation. |
CCDSi | CCDS42872.2 [Q9H4H8-1] |
RefSeqi | NP_112181.3, NM_030919.2 [Q9H4H8-1] |
Genome annotation databases
Ensembli | ENST00000619850; ENSP00000481465; ENSG00000101447 [Q9H4H8-1] |
GeneIDi | 81610 |
KEGGi | hsa:81610 |
UCSCi | uc061wzh.1, human [Q9H4H8-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AK055793 mRNA Translation: BAB71016.1 Sequence problems. AK303860 mRNA Translation: BAG64799.1 AL023803 Genomic DNA No translation available. BC001068 mRNA Translation: AAH01068.2 Different initiation. BC006553 mRNA Translation: AAH06553.3 Different initiation. BC053683 mRNA Translation: AAH53683.1 Different initiation. BC063661 mRNA Translation: AAH63661.1 Different initiation. BC080188 mRNA Translation: AAH80188.1 Different initiation. |
CCDSi | CCDS42872.2 [Q9H4H8-1] |
RefSeqi | NP_112181.3, NM_030919.2 [Q9H4H8-1] |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
5E0L | X-ray | 1.31 | C | 384-394 | [»] | |
5E0M | X-ray | 1.65 | C | 436-446 | [»] | |
SMRi | Q9H4H8 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 123547, 47 interactors |
IntActi | Q9H4H8, 32 interactors |
MINTi | Q9H4H8 |
STRINGi | 9606.ENSP00000481110 |
PTM databases
iPTMneti | Q9H4H8 |
PhosphoSitePlusi | Q9H4H8 |
Genetic variation databases
BioMutai | FAM83D |
DMDMi | 25452904 |
Proteomic databases
EPDi | Q9H4H8 |
jPOSTi | Q9H4H8 |
MassIVEi | Q9H4H8 |
MaxQBi | Q9H4H8 |
PaxDbi | Q9H4H8 |
PeptideAtlasi | Q9H4H8 |
PRIDEi | Q9H4H8 |
ProteomicsDBi | 80838 [Q9H4H8-1] 80839 [Q9H4H8-2] |
Protocols and materials databases
Antibodypediai | 57303, 79 antibodies |
Genome annotation databases
Ensembli | ENST00000619850; ENSP00000481465; ENSG00000101447 [Q9H4H8-1] |
GeneIDi | 81610 |
KEGGi | hsa:81610 |
UCSCi | uc061wzh.1, human [Q9H4H8-1] |
Organism-specific databases
CTDi | 81610 |
DisGeNETi | 81610 |
GeneCardsi | FAM83D |
HGNCi | HGNC:16122, FAM83D |
HPAi | ENSG00000101447, Tissue enhanced (esophagus, smooth muscle) |
MIMi | 618380, gene |
neXtProti | NX_Q9H4H8 |
OpenTargetsi | ENSG00000101447 |
PharmGKBi | PA25670 |
VEuPathDBi | HostDB:ENSG00000101447.13 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | ENOG502RC3Z, Eukaryota |
GeneTreei | ENSGT00940000158405 |
HOGENOMi | CLU_040298_0_0_1 |
InParanoidi | Q9H4H8 |
OrthoDBi | 433035at2759 |
PhylomeDBi | Q9H4H8 |
TreeFami | TF330777 |
Enzyme and pathway databases
PathwayCommonsi | Q9H4H8 |
Miscellaneous databases
BioGRID-ORCSi | 81610, 32 hits in 999 CRISPR screens |
ChiTaRSi | FAM83D, human |
GenomeRNAii | 81610 |
Pharosi | Q9H4H8, Tbio |
PROi | PR:Q9H4H8 |
RNActi | Q9H4H8, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000101447, Expressed in lower esophagus muscularis layer and 158 other tissues |
ExpressionAtlasi | Q9H4H8, baseline and differential |
Genevisiblei | Q9H4H8, HS |
Family and domain databases
InterProi | View protein in InterPro IPR012461, FAM83_N |
Pfami | View protein in Pfam PF07894, FAM83, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | FA83D_HUMAN | |
Accessioni | Q9H4H8Primary (citable) accession number: Q9H4H8 Secondary accession number(s): B4E1I7 Q9BVM8 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | November 25, 2002 |
Last sequence update: | November 25, 2002 | |
Last modified: | April 7, 2021 | |
This is version 155 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
3D-structure, Reference proteomeDocuments
- Human chromosome 20
Human chromosome 20: entries, gene names and cross-references to MIM - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - SIMILARITY comments
Index of protein domains and families