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Aliases for FAM21C Gene

Aliases for FAM21C Gene

  • Family With Sequence Similarity 21, Member C 2 3
  • VPEF 3 4 6
  • Vaccinia Virus Penetration Factor 3 4
  • KIAA0592 4 6
  • WASH Complex Subunit FAM21C 3
  • FAM21A 3

External Ids for FAM21C Gene

Summaries for FAM21C Gene

GeneCards Summary for FAM21C Gene

FAM21C (Family With Sequence Similarity 21, Member C) is a Protein Coding gene. Diseases associated with FAM21C include vaccinia. An important paralog of this gene is FAM21A.

UniProtKB/Swiss-Prot for FAM21C Gene

  • Acts at least in part as component of the WASH core complex whose assembly at the surface of endosomes inhibits WASH nucleation-promoting factor (NPF) activity in recruiting and activating the Arp2/3 complex to induce actin polymerization and is involved in the fission of tubules that serve as transport intermediates during endosome sorting. Mediates the recruitment of the WASH core complex to endosome membranes via binding to phospholipids and VPS35 of the retromer CSC. Mediates the recruitment of the F-actin-capping protein dimer to the WASH core complex probably promoting localized F-actin polymerization needed for vesicle scission (PubMed:19922874, PubMed:20498093, PubMed:22513087, PubMed:23331060). Via its C-terminus binds various phospholipids, most strongly phosphatidylinositol 4-phosphate (PtdIns-(4)P), phosphatidylinositol 5-phosphate (PtdIns-(5)P) and phosphatidylinositol 3,5-bisphosphate (PtdIns-(3,5)P2). Involved in the endosome-to-plasma membrane trafficking and recycling of SNX27-retromer-dependent cargo proteins, such as GLUT1 (PubMed:25278552). Required for the association of DNAJC13, SDCCAG3, ANKRD50 with retromer CSC subunit VPS35 (PubMed:24980502). Required for the endosomal recruitment of CCC complex subunits COMMD1, CCDC93 AND C16orf62 (PubMed:25355947). Plays a role in fluid-phase endocytosis, a process exploited by vaccinia intracellular mature virus (IMV) to enter cells. As a result, may facilitate the penetration of IMV into cells (PubMed:18550675).

Gene Wiki entry for FAM21C Gene

No data available for Entrez Gene Summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FAM21C Gene

Genomics for FAM21C Gene

Genomic Location for FAM21C Gene

Start:
45,727,200 bp from pter
End:
45,792,964 bp from pter
Size:
65,765 bases
Orientation:
Plus strand

Genomic View for FAM21C Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for FAM21C Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FAM21C Gene

Regulatory Elements for FAM21C Gene

Proteins for FAM21C Gene

  • Protein details for FAM21C Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y4E1-FA21C_HUMAN
    Recommended name:
    WASH complex subunit FAM21C
    Protein Accession:
    Q9Y4E1
    Secondary Accessions:
    • B4DZQ6
    • B9EK53
    • F5H0J6
    • F5H871
    • Q5SQU4
    • Q5SQU5
    • Q7L521
    • Q9UG79

    Protein attributes for FAM21C Gene

    Size:
    1318 amino acids
    Molecular mass:
    144668 Da
    Quaternary structure:
    • Component of the WASH core complex also described as WASH regulatory complex (SHRC) composed of WASH (WASH1, WASH2P or WASH3P), FAM21 (FAM21A or FAM21C), KIAA1033/ SWIP, KIAA0196/strumpellin and CCDC53; in the complex interacts (via N-terminus) directly with WASH1. The WASH core complex associates via FAM21 with the F-actin-capping protein dimer (formed by CAPZA1, CAPZA2 or CAPZA3 and CAPZB) in a transient or substoichiometric manner which was initially described as WASH complex (PubMed:19922875, PubMed:20498093). Interacts with VPS35; mediates the association with the retromer CSC complex. Interacts with FKBP15. Interacts with CCDC93, CCDC22, C16orf62; indicative for an association of the WASH core complex with the CCC complex.
    Miscellaneous:
    • In human, FAM21 has undergone evolutionary duplication, with 4 highly homologous family members existing, including FAM21A, FAM21B, FAM21C, and an N-terminally truncated FAM21D form
    SequenceCaution:
    • Sequence=AAH06456.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAA25518.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Alternative splice isoforms for FAM21C Gene

neXtProt entry for FAM21C Gene

Proteomics data for FAM21C Gene at MOPED

Post-translational modifications for FAM21C Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for FAM21C Gene

Domains for FAM21C Gene

Protein Domains for FAM21C Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for FAM21C Gene

Graphical View of Domain Structure for InterPro Entry

Q9Y4E1

UniProtKB/Swiss-Prot:

FA21C_HUMAN
Domain:
  • The LFa (leucine-phenylalanine-acidic) motif bind directly to VPS35 of retromer CSC; adjacent motifs can act cooperatively to bind multiple CSCs, although there is significant variability in the affinities of different motifs for retromer.:
    • Q9Y4E1
Family:
  • Belongs to the FAM21 family.:
    • Q9Y4E1
genes like me logo Genes that share domains with FAM21C: view

No data available for Gene Families for FAM21C Gene

Function for FAM21C Gene

Molecular function for FAM21C Gene

UniProtKB/Swiss-Prot Function: Acts at least in part as component of the WASH core complex whose assembly at the surface of endosomes inhibits WASH nucleation-promoting factor (NPF) activity in recruiting and activating the Arp2/3 complex to induce actin polymerization and is involved in the fission of tubules that serve as transport intermediates during endosome sorting. Mediates the recruitment of the WASH core complex to endosome membranes via binding to phospholipids and VPS35 of the retromer CSC. Mediates the recruitment of the F-actin-capping protein dimer to the WASH core complex probably promoting localized F-actin polymerization needed for vesicle scission (PubMed:19922874, PubMed:20498093, PubMed:22513087, PubMed:23331060). Via its C-terminus binds various phospholipids, most strongly phosphatidylinositol 4-phosphate (PtdIns-(4)P), phosphatidylinositol 5-phosphate (PtdIns-(5)P) and phosphatidylinositol 3,5-bisphosphate (PtdIns-(3,5)P2). Involved in the endosome-to-plasma membrane trafficking and recycling of SNX27-retromer-dependent cargo proteins, such as GLUT1 (PubMed:25278552). Required for the association of DNAJC13, SDCCAG3, ANKRD50 with retromer CSC subunit VPS35 (PubMed:24980502). Required for the endosomal recruitment of CCC complex subunits COMMD1, CCDC93 AND C16orf62 (PubMed:25355947). Plays a role in fluid-phase endocytosis, a process exploited by vaccinia intracellular mature virus (IMV) to enter cells. As a result, may facilitate the penetration of IMV into cells (PubMed:18550675).

Gene Ontology (GO) - Molecular Function for FAM21C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 19922874
GO:0005546 phosphatidylinositol-4,5-bisphosphate binding IDA 20498093
GO:0005547 phosphatidylinositol-3,4,5-trisphosphate binding IDA 20498093
GO:0010314 phosphatidylinositol-5-phosphate binding IDA 20498093
GO:0032266 phosphatidylinositol-3-phosphate binding IDA 20498093
genes like me logo Genes that share ontologies with FAM21C: view

miRNA for FAM21C Gene

miRTarBase miRNAs that target FAM21C

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , Transcription Factor Targeting and HOMER Transcription for FAM21C Gene

Localization for FAM21C Gene

Subcellular locations from UniProtKB/Swiss-Prot for FAM21C Gene

Early endosome membrane. Cell membrane. Note=Partially colocalizes with RAB11A, a recycling endosome marker. Associates with lipid raft microdomains on the plasma membrane.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for FAM21C Gene COMPARTMENTS Subcellular localization image for FAM21C gene
Compartment Confidence
endosome 5
plasma membrane 5
nucleus 3

Gene Ontology (GO) - Cellular Components for FAM21C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005768 endosome IDA 20923837
GO:0005769 early endosome IDA 19922874
GO:0005886 plasma membrane IEA --
GO:0030904 colocalizes_with retromer complex IDA 23331060
GO:0031901 early endosome membrane IEA --
genes like me logo Genes that share ontologies with FAM21C: view

Pathways for FAM21C Gene

SuperPathways for FAM21C Gene

No Data Available

Interacting Proteins for FAM21C Gene

Selected Interacting proteins: Q9Y4E1-FA21C_HUMAN for FAM21C Gene via MINT I2D

Symbol External ID(s) Details
ATXN1

Gene Ontology (GO) - Biological Process for FAM21C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0015031 protein transport IEA --
GO:0042147 retrograde transport, endosome to Golgi IMP 19922874
GO:1900024 regulation of substrate adhesion-dependent cell spreading IDA 22070227
GO:1990126 retrograde transport, endosome to plasma membrane IMP 25278552
GO:2000813 negative regulation of barbed-end actin filament capping IDA 20498093
genes like me logo Genes that share ontologies with FAM21C: view

No data available for Pathways by source for FAM21C Gene

Transcripts for FAM21C Gene

Unigene Clusters for FAM21C Gene

Family with sequence similarity 21, member C:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for FAM21C Gene

No ASD Table

Relevant External Links for FAM21C Gene

GeneLoc Exon Structure for
FAM21C
ECgene alternative splicing isoforms for
FAM21C

Expression for FAM21C Gene

mRNA expression in normal human tissues for FAM21C Gene

Integrated Proteomics: protein expression from ProteomicsDB, MOPED, and MaxQB for FAM21C Gene

SOURCE GeneReport for Unigene cluster for FAM21C Gene Hs.365286

genes like me logo Genes that share expressions with FAM21C: view

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for FAM21C Gene

Orthologs for FAM21C Gene

This gene was present in the common ancestor of chordates.

Orthologs for FAM21C Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FAM21C 36
  • 97 (a)
OneToMany
LOC738985 35
  • 98.55 (n)
  • 97.44 (a)
cow
(Bos Taurus)
Mammalia -- 36
  • 78 (a)
OneToMany
FAM21A 35
  • 83.73 (n)
  • 79.1 (a)
dog
(Canis familiaris)
Mammalia -- 36
  • 80 (a)
OneToMany
LOC477751 35
  • 86.18 (n)
  • 82.53 (a)
mouse
(Mus musculus)
Mammalia Fam21 35
  • 79.71 (n)
  • 74.83 (a)
Fam21 16
Fam21 36
  • 73 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 61 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 58 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Fam21c 35
  • 79.01 (n)
  • 74.11 (a)
chicken
(Gallus gallus)
Aves FAM21A 35
  • 62.77 (n)
  • 58.04 (a)
FAM21A 36
  • 46 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 50 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia fam21a 35
  • 58.85 (n)
  • 53.89 (a)
zebrafish
(Danio rerio)
Actinopterygii fam21c 35
  • 54.48 (n)
  • 46.45 (a)
fam21c 36
  • 40 (a)
OneToMany
Species with no ortholog for FAM21C:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for FAM21C Gene

ENSEMBL:
Gene Tree for FAM21C (if available)
TreeFam:
Gene Tree for FAM21C (if available)

Paralogs for FAM21C Gene

Paralogs for FAM21C Gene

Selected SIMAP similar genes for FAM21C Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with FAM21C: view

Variants for FAM21C Gene

Sequence variations from dbSNP and Humsavar for FAM21C Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type MAF
rs898221 -- 45,753,868(-) CCTAT(G/T)GAGTA intron-variant
rs1814584 -- 45,758,653(-) tccag(C/T)ctggg intron-variant
rs1901049 -- 45,776,771(+) TGCAG(C/T)GACCT intron-variant
rs1960116 -- 45,753,932(-) GCCTG(C/T)GCCCG intron-variant
rs2122421 -- 45,754,974(+) CATCA(A/C)TGAAG missense, reference

Structural Variations from Database of Genomic Variants (DGV) for FAM21C Gene

Variant ID Type Subtype PubMed ID
dgv651n71 CNV Gain 21882294
dgv250e1 CNV Complex 17122850
dgv251e1 CNV Complex 17122850
dgv252e1 CNV Complex 17122850
dgv253e1 CNV Complex 17122850
esv2750898 CNV Loss 17911159
dgv254e1 CNV Complex 17122850
essv18092 CNV CNV 17122850
nsv516485 CNV Gain+Loss 19592680
nsv499498 OTHER Inversion 21111241
esv33964 CNV Loss 17666407
esv2750899 CNV Gain 17911159
nsv895114 CNV Gain 21882294
esv34875 CNV Gain 17911159
nsv7202 OTHER Inversion 18451855
esv23760 CNV Gain+Loss 19812545

Relevant External Links for FAM21C Gene

HapMap Linkage Disequilibrium report
FAM21C

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FAM21C Gene

Disorders for FAM21C Gene

(1) MalaCards Diseases for FAM21C Gene

Search for FAM21C Gene in MalaCards »
genes like me logo Genes that share disorders with FAM21C: view

No data available for UniProtKB/Swiss-Prot for FAM21C Gene

Publications for FAM21C Gene

  1. WASH and WAVE actin regulators of the Wiskott-Aldrich syndrome protein (WASP) family are controlled by analogous structurally related complexes. (PMID: 20498093) Jia D. … Billadeau D.D. (Proc. Natl. Acad. Sci. U.S.A. 2010) 2 3 4
  2. A novel cellular protein, VPEF, facilitates vaccinia virus penetration into HeLa cells through fluid phase endocytosis. (PMID: 18550675) Huang C.Y. … Chang W. (J. Virol. 2008) 3 4
  3. A FAM21-containing WASH complex regulates retromer-dependent sorting. (PMID: 19922874) Gomez T.S. … Billadeau D.D. (Dev. Cell 2009) 3 4
  4. The Arp2/3 activator WASH controls the fission of endosomes through a large multiprotein complex. (PMID: 19922875) Derivery E. … Gautreau A. (Dev. Cell 2009) 3 4
  5. Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. (PMID: 9628581) Nagase T. … Ohara O. (DNA Res. 1998) 3 4

Products for FAM21C Gene

  • antibodies-online proteins for FAM21C
  • antibodies-online antibodies for FAM21C
  • antibodies-online kits for FAM21C

Sources for FAM21C Gene

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