Free for academic non-profit institutions. Other users need a Commercial license

Aliases for FAM21C Gene

Aliases for FAM21C Gene

  • Family With Sequence Similarity 21 Member C 2 3 5
  • Family With Sequence Similarity 21, Member C 2 3
  • Vaccinia Virus Penetration Factor 3 4
  • VPEF 3 4
  • KIAA0592 4
  • FAM21A 3

External Ids for FAM21C Gene

Previous GeneCards Identifiers for FAM21C Gene

  • GC10U900458
  • GC10P045540
  • GC10P046222
  • GC10P042755

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. Among its related pathways are Endocytosis. GO annotations related to this gene include phosphatidylinositol-4,5-bisphosphate binding and phosphatidylinositol-3-phosphate binding. 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

Regulatory Elements for FAM21C Gene

Promoters for FAM21C Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around FAM21C on UCSC Golden Path with GeneCards custom track

Genomic Location for FAM21C Gene

Chromosome:
10
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

Genes around FAM21C on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FAM21C Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FAM21C Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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

Antibody Products

No data available for DME Specific Peptides for FAM21C Gene

Domains & Families 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 :
  • 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.
  • Belongs to the FAM21 family.
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.
Family:
  • Belongs to the FAM21 family.
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:0032266 phosphatidylinositol-3-phosphate binding IDA 20498093
genes like me logo Genes that share ontologies with FAM21C: view

Animal Model Products

CRISPR Products

miRNA for FAM21C Gene

miRTarBase miRNAs that target FAM21C

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Human Phenotype Ontology , Animal Models , Transcription Factor Targets 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.

Gene Ontology (GO) - Cellular Components for FAM21C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005730 nucleolus IDA --
GO:0005768 endosome IDA 20923837
GO:0030904 colocalizes_with retromer complex IDA 23331060
GO:0071203 WASH complex IEA,IDA 19922875
genes like me logo Genes that share ontologies with FAM21C: view

No data available for Subcellular locations from COMPARTMENTS for FAM21C Gene

Pathways & Interactions for FAM21C Gene

SuperPathways for FAM21C Gene

Superpath Contained pathways
1 Endocytosis
genes like me logo Genes that share pathways with FAM21C: view

Pathways by source for FAM21C Gene

1 KEGG pathway for FAM21C Gene

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:0042147 retrograde transport, endosome to Golgi IMP 19922874
GO:1990126 retrograde transport, endosome to plasma membrane IMP 25278552
genes like me logo Genes that share ontologies with FAM21C: view

No data available for SIGNOR curated interactions for FAM21C Gene

Drugs & Compounds for FAM21C Gene

No Compound Related Data Available

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

Protein differential expression in normal tissues from HIPED for FAM21C Gene

This gene is overexpressed in Lavage (37.1) and Peripheral blood mononuclear cells (12.5).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with FAM21C: view

Protein tissue co-expression partners for FAM21C Gene

- Elite partner

Primer Products

In Situ Assay Products

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
cow
(Bos Taurus)
Mammalia FAM21A 35
  • 83.73 (n)
  • 79.1 (a)
-- 36
  • 78 (a)
OneToMany
dog
(Canis familiaris)
Mammalia LOC477751 35
  • 86.18 (n)
  • 82.53 (a)
-- 36
  • 80 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Fam21 35
  • 79.71 (n)
  • 74.83 (a)
Fam21 16
Fam21 36
  • 73 (a)
OneToMany
chimpanzee
(Pan troglodytes)
Mammalia LOC738985 35
  • 98.55 (n)
  • 97.44 (a)
FAM21C 36
  • 97 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Fam21c 35
  • 79.01 (n)
  • 74.11 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 61 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 58 (a)
OneToMany
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

(4) 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
rs898221 -- 45,753,868(-) CCTAT(G/T)GAGTA intron-variant
rs1048247 -- 45,726,709(-) GCATT(C/G)CCCTC upstream-variant-2KB
rs1203299 -- 45,729,790(+) TCTCC(C/T)GAGAT intron-variant
rs1814584 -- 45,758,653(-) tccag(C/T)ctggg intron-variant
rs1960116 -- 45,753,932(-) GCCTG(C/T)GCCCG intron-variant

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

Variation tolerance for FAM21C Gene

Gene Damage Index Score: 8.49; 85.83% of all genes are more intolerant (likely to be disease-causing)

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

MalaCards: The human disease database

(1) MalaCards diseases for FAM21C Gene - From: GeneCards

Disorder Aliases PubMed IDs
vaccinia
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for FAM21C

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
FAM21C
genes like me logo Genes that share disorders with FAM21C: view

No data available for UniProtKB/Swiss-Prot and Genatlas 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 67
  2. Structural characterization of a capping protein interaction motif defines a family of actin filament regulators. (PMID: 20357771) Hernandez-Valladares M. … Robinson R.C. (Nat. Struct. Mol. Biol. 2010) 2 3
  3. COMMD1 is linked to the WASH complex and regulates endosomal trafficking of the copper transporter ATP7A. (PMID: 25355947) Phillips-Krawczak C.A. … Burstein E. (Mol. Biol. Cell 2015) 3
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  5. RME-8 coordinates the activity of the WASH complex with the function of the retromer SNX dimer to control endosomal tubulation. (PMID: 24643499) Freeman C.L. … Seaman M.N. (J. Cell Sci. 2014) 3

Products for FAM21C Gene

Sources for FAM21C Gene

Back to Top

Content