Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

Protein FAM83D

Gene

FAM83D

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

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

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 proliferation Source: UniProtKB
  • epithelial to mesenchymal transition Source: UniProtKB
  • metaphase plate congression Source: UniProtKB
  • mitotic nuclear division Source: UniProtKB-KW
  • 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
Complete GO annotation...

Keywords - Biological processi

Cell cycle, Cell division, Mitosis

Names & Taxonomyi

Protein namesi
Recommended name:
Protein FAM83DCurated
Alternative name(s):
Spindle protein CHICA1 Publication
Gene namesi
Name:FAM83DImported
Synonyms:C20orf129Imported
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 20

Organism-specific databases

HGNCiHGNC:16122. FAM83D.

Subcellular locationi

GO - Cellular componenti

  • cytoplasm Source: UniProtKB
  • mitotic spindle pole Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Cytoskeleton

Pathology & Biotechi

Keywords - Diseasei

Proto-oncogene

Organism-specific databases

PharmGKBiPA25670.

Polymorphism and mutation databases

BioMutaiFAM83D.
DMDMi25452904.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 585585Protein FAM83DPRO_0000079460Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei298 – 2981PhosphoserineCombined sources
Modified residuei462 – 4621PhosphoserineCombined sources
Modified residuei513 – 5131PhosphothreonineCombined sources
Modified residuei568 – 5681PhosphoserineCombined sources

Post-translational modificationi

Phosphorylated during mitosis.1 Publication

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ9H4H8.
MaxQBiQ9H4H8.
PaxDbiQ9H4H8.
PeptideAtlasiQ9H4H8.
PRIDEiQ9H4H8.

PTM databases

iPTMnetiQ9H4H8.
PhosphoSiteiQ9H4H8.

Expressioni

Inductioni

Up-regulated during mitosis.1 Publication

Gene expression databases

BgeeiENSG00000101447.
CleanExiHS_FAM83D.
ExpressionAtlasiQ9H4H8. baseline and differential.
GenevisibleiQ9H4H8. HS.

Organism-specific databases

HPAiHPA049333.

Interactioni

Subunit structurei

Interacts with FBXW7; promotes FBXW7 degradation (PubMed:24344117). May interact with RAF1 (PubMed:24736947). Interacts with KIF22; recruits KIF22 to mitotic spindle microtubules (PubMed:18485706).3 Publications

GO - Molecular functioni

  • kinesin binding Source: UniProtKB
  • microtubule binding Source: UniProtKB
  • protein kinase binding Source: UniProtKB

Protein-protein interaction databases

BioGridi123547. 27 interactions.
IntActiQ9H4H8. 16 interactions.
MINTiMINT-4990204.
STRINGi9606.ENSP00000217429.

Structurei

Secondary structure

1
585
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Beta strandi386 – 3927Combined sources

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
5E0LX-ray1.31C384-394[»]
5E0MX-ray1.65C436-446[»]
ProteinModelPortaliQ9H4H8.
SMRiQ9H4H8. Positions 149-297.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni340 – 585246Required for interaction with KIF22 and function in chromosome congression1 PublicationAdd
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi80 – 867Poly-Ala
Compositional biasi458 – 49639Ser-richAdd
BLAST

Sequence similaritiesi

Belongs to the FAM83 family.Curated

Phylogenomic databases

eggNOGiENOG410IGVW. Eukaryota.
ENOG410ZYBU. LUCA.
GeneTreeiENSGT00760000119168.
HOVERGENiHBG062421.
InParanoidiQ9H4H8.
KOiK16805.
PhylomeDBiQ9H4H8.
TreeFamiTF330777.

Family and domain databases

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

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9H4H8-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        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
Length:585
Mass (Da):64,424
Last modified:November 25, 2002 - v3
Checksum:i9D1C86F0BFE47B10
GO
Isoform 2 (identifier: Q9H4H8-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     123-138: Missing.

Note: No experimental confirmation available.
Show »
Length:569
Mass (Da):62,596
Checksum:i3DA40464D119B56D
GO

Sequence cautioni

The sequence AAH01068 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
The sequence AAH06553 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
The sequence AAH53683 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
The sequence AAH63661 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
The sequence AAH80188 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
The sequence BAB71016 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
The sequence BAB71016 differs from that shown. Reason: Erroneous termination at position 262. Translated as Trp.Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti11 – 111V → L in AAH01068 (PubMed:15489334).Curated
Sequence conflicti11 – 111V → L in AAH06553 (PubMed:15489334).Curated
Sequence conflicti11 – 111V → L in AAH63661 (PubMed:15489334).Curated
Sequence conflicti79 – 791G → GA in AAH53683 (PubMed:15489334).Curated
Sequence conflicti242 – 2421H → R in BAG64799 (PubMed:11780052).Curated

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei123 – 13816Missing in isoform 2. 1 PublicationVSP_036446Add
BLAST

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.
CCDSiCCDS42872.1. [Q9H4H8-1]
RefSeqiNP_112181.3. NM_030919.2. [Q9H4H8-1]
UniGeneiHs.726442.

Genome annotation databases

EnsembliENST00000619850; ENSP00000481465; ENSG00000101447. [Q9H4H8-1]
GeneIDi81610.
KEGGihsa:81610.
UCSCiuc061wzh.1. human. [Q9H4H8-1]

Keywords - Coding sequence diversityi

Alternative splicing

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.
CCDSiCCDS42872.1. [Q9H4H8-1]
RefSeqiNP_112181.3. NM_030919.2. [Q9H4H8-1]
UniGeneiHs.726442.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
5E0LX-ray1.31C384-394[»]
5E0MX-ray1.65C436-446[»]
ProteinModelPortaliQ9H4H8.
SMRiQ9H4H8. Positions 149-297.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi123547. 27 interactions.
IntActiQ9H4H8. 16 interactions.
MINTiMINT-4990204.
STRINGi9606.ENSP00000217429.

PTM databases

iPTMnetiQ9H4H8.
PhosphoSiteiQ9H4H8.

Polymorphism and mutation databases

BioMutaiFAM83D.
DMDMi25452904.

Proteomic databases

EPDiQ9H4H8.
MaxQBiQ9H4H8.
PaxDbiQ9H4H8.
PeptideAtlasiQ9H4H8.
PRIDEiQ9H4H8.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000619850; ENSP00000481465; ENSG00000101447. [Q9H4H8-1]
GeneIDi81610.
KEGGihsa:81610.
UCSCiuc061wzh.1. human. [Q9H4H8-1]

Organism-specific databases

CTDi81610.
GeneCardsiFAM83D.
H-InvDBHIX0015813.
HGNCiHGNC:16122. FAM83D.
HPAiHPA049333.
neXtProtiNX_Q9H4H8.
PharmGKBiPA25670.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IGVW. Eukaryota.
ENOG410ZYBU. LUCA.
GeneTreeiENSGT00760000119168.
HOVERGENiHBG062421.
InParanoidiQ9H4H8.
KOiK16805.
PhylomeDBiQ9H4H8.
TreeFamiTF330777.

Miscellaneous databases

GenomeRNAii81610.
PROiQ9H4H8.

Gene expression databases

BgeeiENSG00000101447.
CleanExiHS_FAM83D.
ExpressionAtlasiQ9H4H8. baseline and differential.
GenevisibleiQ9H4H8. HS.

Family and domain databases

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

Entry informationi

Entry nameiFA83D_HUMAN
AccessioniPrimary (citable) accession number: Q9H4H8
Secondary accession number(s): B4E1I7
, Q5THR2, Q68EN1, Q6P457, Q7Z6H0, Q96DF5, Q96N89, Q9BVM8
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 25, 2002
Last sequence update: November 25, 2002
Last modified: September 7, 2016
This is version 126 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

Miscellaneous

Was named CHICA (girl in Spanish) because it interacts with KID.

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 20
    Human chromosome 20: entries, gene names and cross-references to MIM
  2. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  3. 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.