Human Gene FAM83D (ENST00000619850.2_9) from GENCODE V47lift37
  Description: family with sequence similarity 83 member D (from RefSeq NM_030919.3)
Gencode Transcript: ENST00000619850.2_9
Gencode Gene: ENSG00000101447.15_11
Transcript (Including UTRs)
   Position: hg19 chr20:37,555,060-37,581,749 Size: 26,690 Total Exon Count: 4 Strand: +
Coding Region
   Position: hg19 chr20:37,555,086-37,581,163 Size: 26,078 Coding Exon Count: 4 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
Other NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr20:37,555,060-37,581,749)mRNA (may differ from genome)Protein (585 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedUniProtKB
BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: FA83D_HUMAN
DESCRIPTION: RecName: Full=Protein FAM83D; AltName: Full=Spindle protein CHICA;
FUNCTION: Required for proper chromosome congression and alignment during mitosis. Required for targeting KIF22/KID to the spindle microtubules.
SUBUNIT: Interacts with KIF22/KID.
SUBCELLULAR LOCATION: Cytoplasm. Cytoplasm, cytoskeleton, spindle. Cytoplasm, cytoskeleton, spindle pole. Note=Primarily cytoplasmic during interphase, but beginning in prophase, associates with spindle microtubules, with a clear concentration toward the spindle poles. It persists on spindle microtubules through metaphase and anaphase.
MISCELLANEOUS: Was named CHICA (girl in Spanish) because it interacts with KID.
SIMILARITY: Belongs to the FAM83 family.
SEQUENCE CAUTION: Sequence=AAH01068.2; Type=Erroneous initiation; Sequence=AAH06553.3; Type=Erroneous initiation; Sequence=AAH53683.1; Type=Erroneous initiation; Sequence=AAH63661.1; Type=Erroneous initiation; Sequence=AAH80188.1; Type=Erroneous initiation; Sequence=BAB71016.1; Type=Erroneous termination; Positions=262; Note=Translated as Trp; Sequence=CAI22033.1; Type=Erroneous initiation;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: FAM83D
Diseases sorted by gene-association score: kleine-levin hibernation syndrome (1)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -8.7026-0.335 Picture PostScript Text
3' UTR -118.70586-0.203 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR012461 - DUF1669

Pfam Domains:
PF07894 - FAM83 A-H
PF13091 - PLD-like domain

SCOP Domains:
56024 - Phospholipase D/nuclease

ModBase Predicted Comparative 3D Structure on Q9H4H8
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGDEnsembl   
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0008017 microtubule binding
GO:0019894 kinesin binding
GO:0019901 protein kinase binding

Biological Process:
GO:0001837 epithelial to mesenchymal transition
GO:0007049 cell cycle
GO:0008283 cell proliferation
GO:0016477 cell migration
GO:0032006 regulation of TOR signaling
GO:0042176 regulation of protein catabolic process
GO:0051301 cell division
GO:0051310 metaphase plate congression
GO:0070372 regulation of ERK1 and ERK2 cascade
GO:1902480 protein localization to mitotic spindle
GO:1902808 positive regulation of cell cycle G1/S phase transition

Cellular Component:
GO:0000922 spindle pole
GO:0005737 cytoplasm
GO:0005819 spindle
GO:0005856 cytoskeleton
GO:0097431 mitotic spindle pole


-  Descriptions from all associated GenBank mRNAs
  AK055793 - Homo sapiens cDNA FLJ31231 fis, clone KIDNE2004534.
AK303860 - Homo sapiens cDNA FLJ54227 complete cds.
BC001068 - Homo sapiens family with sequence similarity 83, member D, mRNA (cDNA clone IMAGE:2823731), partial cds.
BC006553 - Homo sapiens family with sequence similarity 83, member D, mRNA (cDNA clone IMAGE:2819317), partial cds.
BC080188 - Homo sapiens family with sequence similarity 83, member D, mRNA (cDNA clone IMAGE:6173967), partial cds.
BC063661 - Homo sapiens family with sequence similarity 83, member D, mRNA (cDNA clone IMAGE:4999047), partial cds.
BC053683 - Homo sapiens family with sequence similarity 83, member D, mRNA (cDNA clone IMAGE:4995478), partial cds.
JC506674 - Sequence 42 from Patent EP2733220.
JC506688 - Sequence 56 from Patent EP2733220.
JC737786 - Sequence 42 from Patent WO2014075939.
JC737800 - Sequence 56 from Patent WO2014075939.
AL832274 - Homo sapiens mRNA; cDNA DKFZp667A0218 (from clone DKFZp667A0218).
AK095660 - Homo sapiens cDNA FLJ38341 fis, clone FCBBF3028143.
JD493175 - Sequence 474199 from Patent EP1572962.
JD385806 - Sequence 366830 from Patent EP1572962.
JD053907 - Sequence 34931 from Patent EP1572962.
JD066082 - Sequence 47106 from Patent EP1572962.
JD450189 - Sequence 431213 from Patent EP1572962.
JD329996 - Sequence 311020 from Patent EP1572962.
JD334323 - Sequence 315347 from Patent EP1572962.
JD067998 - Sequence 49022 from Patent EP1572962.
JD276719 - Sequence 257743 from Patent EP1572962.
JD282419 - Sequence 263443 from Patent EP1572962.
JD081876 - Sequence 62900 from Patent EP1572962.
JD564147 - Sequence 545171 from Patent EP1572962.
JD080568 - Sequence 61592 from Patent EP1572962.
JD416404 - Sequence 397428 from Patent EP1572962.
JD200816 - Sequence 181840 from Patent EP1572962.
JD434616 - Sequence 415640 from Patent EP1572962.
JD273672 - Sequence 254696 from Patent EP1572962.
JD144938 - Sequence 125962 from Patent EP1572962.
JD549660 - Sequence 530684 from Patent EP1572962.
JD499903 - Sequence 480927 from Patent EP1572962.
JD323717 - Sequence 304741 from Patent EP1572962.
JD051903 - Sequence 32927 from Patent EP1572962.
JD109634 - Sequence 90658 from Patent EP1572962.
JD234894 - Sequence 215918 from Patent EP1572962.
MP014850 - Sequence 53 from Patent WO2019016252.

-  Other Names for This Gene
  Alternate Gene Symbols: B4E1I7, C20orf129 , ENST00000619850.1, FA83D_HUMAN, FAM83D , NM_030919, Q5THR2, Q68EN1, Q6P457, Q7Z6H0, Q96DF5, Q96N89, Q9BVM8, Q9H4H8, uc327spt.1, uc327spt.2
UCSC ID: ENST00000619850.2_9
RefSeq Accession: NM_030919.3
Protein: Q9H4H8 (aka FA83D_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.