Aliases for CCSER1 Gene

Aliases for CCSER1 Gene

  • Coiled-Coil Serine Rich Protein 1 2 3 5
  • Serine-Rich Coiled-Coil Domain-Containing Protein 1 3 4
  • Family With Sequence Similarity 190, Member A 2 3
  • Coiled-Coil Serine-Rich Protein 1 2 4
  • KIAA1680 2 4
  • FAM190A 3 4
  • Protein FAM190A 3
  • CCSER1 5

External Ids for CCSER1 Gene

Previous HGNC Symbols for CCSER1 Gene

  • FAM190A

Previous GeneCards Identifiers for CCSER1 Gene

  • GC04P091049

Summaries for CCSER1 Gene

GeneCards Summary for CCSER1 Gene

CCSER1 (Coiled-Coil Serine Rich Protein 1) is a Protein Coding gene. An important paralog of this gene is CCSER2.

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CCSER1 Gene

Genomics for CCSER1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CCSER1 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH04J090126 Promoter/Enhancer 2.1 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 262.1 +1.0 1007 3.6 ZBTB10 FEZF1 ZNF217 POLR2A ZEB1 ZIC2 ZNF610 CEBPB SIN3A ZNF639 CCSER1 piR-30491
GH04J090649 Promoter 0.3 EPDnew 250 +522.1 522095 0.1 HSALNG0035809 CCSER1 HSALNG0035808
GH04J089994 Enhancer 1.1 VISTA Ensembl ENCODE 9.6 -130.4 -130379 5.8 CEBPA FOXA1 ZFP64 FOXA2 FOXP1 SOX5 HNF4A SP1 GATA2 ZSCAN4 ENSG00000287239 CCSER1 SNCA piR-31937-159 MMRN1
GH04J089929 Enhancer 1 FANTOM5 Ensembl ENCODE 9.9 -197.7 -197693 1.4 BCL11A IKZF1 BMI1 ZNF217 ARID3A ATF7 SPI1 IKZF2 MTA2 DPF2 CCSER1 HSALNG0035800 HSALNG0035799 MMRN1
GH04J090027 Enhancer 0.9 Ensembl ENCODE 10.9 -100.1 -100093 2.6 BCL11A TRIM22 SPI1 BHLHE40 ZNF24 ELF1 IKZF1 BMI1 NR2F1 ATF2 CCSER1 piR-31937-159 LOC105377331 MMRN1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CCSER1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CCSER1

Genomic Locations for CCSER1 Gene

Latest Assembly
1,477,902 bases
Plus strand

Previous Assembly
(GRCh37/hg19 by Entrez Gene)
1,477,902 bases
Plus strand

(GRCh37/hg19 by Ensembl)
1,474,379 bases
Plus strand

Genomic View for CCSER1 Gene

Genes around CCSER1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CCSER1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CCSER1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CCSER1 Gene

Proteins for CCSER1 Gene

  • Protein details for CCSER1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Serine-rich coiled-coil domain-containing protein 1
    Protein Accession:
    Secondary Accessions:
    • Q4W5M0
    • Q86V57

    Protein attributes for CCSER1 Gene

    900 amino acids
    Molecular mass:
    99510 Da
    Quaternary structure:
    No Data Available
    • Sequence=BAB21771.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for CCSER1 Gene


neXtProt entry for CCSER1 Gene

Post-translational modifications for CCSER1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for CCSER1 Gene

Domains & Families for CCSER1 Gene

Gene Families for CCSER1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for CCSER1 Gene


Suggested Antigen Peptide Sequences for CCSER1 Gene

GenScript: Design optimal peptide antigens:
  • Protein FAM190A (F190A_HUMAN)

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the CCSER family.
  • Belongs to the CCSER family.
genes like me logo Genes that share domains with CCSER1: view

Function for CCSER1 Gene

Phenotypes From GWAS Catalog for CCSER1 Gene

Gene Ontology (GO) - Molecular Function for CCSER1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI --
genes like me logo Genes that share ontologies with CCSER1: view
genes like me logo Genes that share phenotypes with CCSER1: view

miRNA for CCSER1 Gene

miRTarBase miRNAs that target CCSER1

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CCSER1

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for CCSER1 Gene

Localization for CCSER1 Gene

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CCSER1 gene
Compartment Confidence
mitochondrion 2
nucleus 2
extracellular 1
cytoskeleton 1
cytosol 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from the Human Protein Atlas (HPA) and Gene Ontology (GO) - Cellular Components for CCSER1 Gene

Pathways & Interactions for CCSER1 Gene

PathCards logo

SuperPathways for CCSER1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for CCSER1 Gene


No data available for Pathways by source and SIGNOR curated interactions for CCSER1 Gene

Drugs & Compounds for CCSER1 Gene

No Compound Related Data Available

Transcripts for CCSER1 Gene

mRNA/cDNA for CCSER1 Gene

7 NCBI additional mRNA sequence :
14 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CCSER1

Alternative Splicing Database (ASD) splice patterns (SP) for CCSER1 Gene

No ASD Table

Relevant External Links for CCSER1 Gene

GeneLoc Exon Structure for

Expression for CCSER1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CCSER1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CCSER1 Gene

This gene is overexpressed in Testis (x4.8).

Protein differential expression in normal tissues from HIPED for CCSER1 Gene

This gene is overexpressed in Plasma (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CCSER1 Gene

Protein tissue co-expression partners for CCSER1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CCSER1

SOURCE GeneReport for Unigene cluster for CCSER1 Gene:

genes like me logo Genes that share expression patterns with CCSER1: view

Primer products for research

No data available for mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for CCSER1 Gene

Orthologs for CCSER1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CCSER1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia FAM190A 30
  • 99.41 (n)
  • 99 (a)
(Canis familiaris)
Mammalia FAM190A 30
  • 91.81 (n)
  • 88 (a)
(Bos Taurus)
Mammalia CCSER1 30 31
  • 89.98 (n)
(Mus musculus)
Mammalia Ccser1 30 17 31
  • 81.45 (n)
(Rattus norvegicus)
Mammalia Ccser1 30
  • 81.34 (n)
(Ornithorhynchus anatinus)
Mammalia CCSER1 31
  • 64 (a)
(Gallus gallus)
Aves FAM190A 30
  • 70.34 (n)
  • 63 (a)
(Anolis carolinensis)
Reptilia CCSER1 31
  • 60 (a)
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia ccser1 30
  • 63.03 (n)
(Danio rerio)
Actinopterygii si:dkey-53d10.1 30
  • 56.37 (n)
  • 45 (a)
Species where no ortholog for CCSER1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
  • Oppossum (Monodelphis domestica)
  • 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 Vase (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 CCSER1 Gene

Gene Tree for CCSER1 (if available)
Gene Tree for CCSER1 (if available)
Evolutionary constrained regions (ECRs) for CCSER1: view image

Paralogs for CCSER1 Gene

Paralogs for CCSER1 Gene

genes like me logo Genes that share paralogs with CCSER1: view

Variants for CCSER1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CCSER1 Gene

SNP ID Clinical significance and condition Chr 04 pos Variation AA Info Type
rs76504638 Benign: not provided 91,085,978(+) T/C
NM_001145065.1(CCSER1):c.2201T>C (p.Val734Ala)
rs12647859 - p.Gly382Ser

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for CCSER1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for CCSER1 Gene

Variant ID Type Subtype PubMed ID
dgv122e203 CNV loss 21179565
dgv126e180 CNV deletion 20482838
dgv149n73 CNV deletion 24416366
dgv1512e212 CNV loss 25503493
dgv157n6 CNV deletion 16902084
dgv158n6 CNV deletion 16902084
dgv2852n106 CNV deletion 24896259
dgv2853n106 CNV deletion 24896259
dgv323n21 CNV loss 19592680
dgv324n21 CNV loss 19592680
dgv329e215 CNV deletion 23714750
dgv46n47 CNV loss 21111241
dgv5337n100 CNV gain 25217958
dgv9159n54 CNV loss 21841781
dgv9160n54 CNV loss 21841781
dgv9161n54 CNV loss 21841781
dgv9162n54 CNV loss 21841781
dgv9163n54 CNV gain 21841781
dgv9164n54 CNV loss 21841781
dgv9165n54 CNV loss 21841781
dgv9166n54 CNV gain 21841781
dgv95n17 CNV loss 16327808
dgv960e199 CNV deletion 23128226
esv1010919 CNV deletion 20482838
esv1218510 CNV deletion 17803354
esv1430964 CNV deletion 17803354
esv2002805 CNV deletion 18987734
esv23173 CNV loss 19812545
esv2421773 CNV deletion 20811451
esv2422180 CNV deletion 20811451
esv2422533 CNV deletion 19546169
esv2431994 CNV loss 19546169
esv24612 CNV gain 19812545
esv2477126 CNV deletion 19546169
esv25904 CNV loss 19812545
esv2631037 CNV deletion 19546169
esv2657715 CNV deletion 23128226
esv2658400 CNV deletion 23128226
esv2659618 CNV deletion 23128226
esv2664948 CNV deletion 23128226
esv2668676 CNV deletion 23128226
esv2669819 CNV deletion 23128226
esv2670687 CNV deletion 23128226
esv2674761 CNV deletion 23128226
esv2675001 CNV deletion 23128226
esv2675910 CNV deletion 23128226
esv2677028 CNV deletion 23128226
esv2677965 CNV deletion 23128226
esv2678098 CNV deletion 23128226
esv2727961 CNV deletion 23290073
esv2727963 CNV deletion 23290073
esv2727964 CNV deletion 23290073
esv2727965 CNV deletion 23290073
esv2727966 CNV deletion 23290073
esv2727967 CNV deletion 23290073
esv2727968 CNV deletion 23290073
esv2727969 CNV deletion 23290073
esv2727970 CNV deletion 23290073
esv2727971 CNV deletion 23290073
esv2759267 CNV gain 17122850
esv2760868 CNV loss 21179565
esv2763377 CNV gain 21179565
esv2763378 CNV gain 21179565
esv2763804 CNV loss 21179565
esv2763819 CNV loss 21179565
esv28052 CNV gain+loss 19812545
esv3299828 CNV deletion 24192839
esv3309418 CNV mobile element insertion 20981092
esv33457 CNV loss 17666407
esv33772 CNV loss 17666407
esv3378332 CNV insertion 20981092
esv3380520 CNV insertion 20981092
esv3394861 CNV insertion 20981092
esv3410860 CNV insertion 20981092
esv3475 CNV loss 18987735
esv3564228 CNV deletion 23714750
esv3564229 CNV deletion 23714750
esv3564232 CNV deletion 23714750
esv3564238 CNV deletion 23714750
esv3564239 CNV deletion 23714750
esv3564240 CNV deletion 23714750
esv3564241 CNV deletion 23714750
esv3564242 CNV deletion 23714750
esv3564244 CNV deletion 23714750
esv3569585 CNV loss 25503493
esv3569586 CNV loss 25503493
esv3575759 CNV gain 25503493
esv3601335 CNV loss 21293372
esv3601336 CNV gain 21293372
esv3601337 CNV loss 21293372
esv3601340 CNV loss 21293372
esv3601341 CNV loss 21293372
esv3601343 CNV loss 21293372
esv3601344 CNV loss 21293372
esv3601347 CNV loss 21293372
esv3601348 CNV loss 21293372
esv3601351 CNV loss 21293372
esv3601352 CNV loss 21293372
esv3601353 CNV loss 21293372
esv3601355 CNV loss 21293372
esv3601356 CNV loss 21293372
esv3601357 CNV loss 21293372
esv3601358 CNV loss 21293372
esv3601359 CNV loss 21293372
esv3601360 CNV loss 21293372
esv3601361 CNV loss 21293372
esv3601363 CNV loss 21293372
esv3601364 CNV gain 21293372
esv3601366 CNV loss 21293372
esv3601368 CNV loss 21293372
esv3601369 CNV loss 21293372
esv3893980 CNV loss 25118596
esv3893982 CNV loss 25118596
esv3893983 CNV gain 25118596
esv3893984 CNV loss 25118596
esv3893985 CNV loss 25118596
esv3893986 CNV gain 25118596
esv5047 CNV loss 18987735
esv8056 CNV loss 19470904
nsv1003269 CNV gain 25217958
nsv1005674 CNV gain 25217958
nsv1006975 CNV gain 25217958
nsv1007804 CNV loss 25217958
nsv1011956 CNV loss 25217958
nsv1012406 CNV loss 25217958
nsv10533 CNV gain+loss 18304495
nsv10534 CNV loss 18304495
nsv10535 CNV loss 18304495
nsv10536 CNV gain 18304495
nsv1073355 CNV deletion 25765185
nsv1073356 CNV deletion 25765185
nsv1109623 CNV deletion 24896259
nsv1109624 CNV deletion 24896259
nsv1114554 CNV deletion 24896259
nsv1116538 OTHER inversion 24896259
nsv1117391 CNV tandem duplication 24896259
nsv1131813 CNV deletion 24896259
nsv1136888 CNV deletion 24896259
nsv1139285 CNV deletion 24896259
nsv1139286 CNV deletion 24896259
nsv1146391 CNV deletion 26484159
nsv1148207 CNV deletion 26484159
nsv293289 CNV deletion 16902084
nsv435791 CNV deletion 17901297
nsv435805 CNV deletion 17901297
nsv435810 CNV deletion 17901297
nsv437404 CNV loss 16327808
nsv437924 CNV loss 16468122
nsv437925 CNV loss 16468122
nsv441898 CNV loss 18776908
nsv441899 CNV loss 18776908
nsv4419 CNV deletion 18451855
nsv4420 CNV deletion 18451855
nsv4422 CNV deletion 18451855
nsv4423 CNV deletion 18451855
nsv4424 CNV insertion 18451855
nsv4425 CNV insertion 18451855
nsv4426 CNV insertion 18451855
nsv4427 CNV insertion 18451855
nsv4428 CNV insertion 18451855
nsv461576 CNV gain 19166990
nsv461581 CNV loss 19166990
nsv461582 CNV loss 19166990
nsv461584 CNV loss 19166990
nsv461586 CNV loss 19166990
nsv470053 CNV gain 18288195
nsv472558 CNV novel sequence insertion 20440878
nsv477611 CNV novel sequence insertion 20440878
nsv478761 CNV novel sequence insertion 20440878
nsv481412 CNV novel sequence insertion 20440878
nsv483045 CNV gain 15286789
nsv499054 CNV loss 21111241
nsv508298 CNV deletion 20534489
nsv509010 CNV insertion 20534489
nsv513148 CNV loss 21212237
nsv513149 CNV loss 21212237
nsv514231 CNV loss 21397061
nsv514232 CNV loss 21397061
nsv515874 CNV loss 19592680
nsv516428 CNV loss 19592680
nsv518069 CNV loss 19592680
nsv518645 CNV gain 19592680
nsv521606 CNV loss 19592680
nsv523397 CNV loss 19592680
nsv524051 CNV gain 19592680
nsv528519 CNV loss 19592680
nsv594806 CNV gain 21841781
nsv594822 CNV loss 21841781
nsv594830 CNV loss 21841781
nsv594832 CNV loss 21841781
nsv594833 CNV loss 21841781
nsv594834 CNV loss 21841781
nsv594835 CNV loss 21841781
nsv594836 CNV loss 21841781
nsv594837 CNV loss 21841781
nsv594838 CNV gain+loss 21841781
nsv594844 CNV gain 21841781
nsv594845 CNV loss 21841781
nsv594849 CNV loss 21841781
nsv594850 CNV loss 21841781
nsv594856 CNV loss 21841781
nsv594862 CNV gain 21841781
nsv594864 CNV loss 21841781
nsv818250 CNV loss 17921354
nsv818251 CNV loss 17921354
nsv818252 CNV loss 17921354
nsv820535 CNV deletion 20802225
nsv820701 CNV deletion 20802225
nsv822643 CNV loss 20364138
nsv822644 CNV loss 20364138
nsv822645 CNV gain 20364138
nsv830006 CNV loss 17160897
nsv950356 CNV duplication 24416366
nsv956307 CNV deletion 24416366
nsv956352 CNV deletion 24416366
nsv966558 CNV deletion 23825009
nsv980230 CNV duplication 23825009
nsv998409 CNV loss 25217958
nsv999694 CNV loss 25217958

Variation tolerance for CCSER1 Gene

Residual Variation Intolerance Score: 62.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.30; 81.38% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CCSER1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CCSER1 Gene

Disorders for CCSER1 Gene

Additional Disease Information for CCSER1

No disorders were found for CCSER1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for CCSER1 Gene

Publications for CCSER1 Gene

  1. Prediction of the coding sequences of unidentified human genes. XIX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 11214970) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 2000) 2 3 4
  2. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3
  3. Fbxl17 is rearranged in breast cancer and loss of its activity leads to increased global O-GlcNAcylation. (PMID: 31560077) Mason B … Laman H (Cellular and molecular life sciences : CMLS 2020) 3
  4. The midbody interactome reveals unexpected roles for PP1 phosphatases in cytokinesis. (PMID: 31586073) Capalbo L … D'Avino PP (Nature communications 2019) 3
  5. VIRMA mediates preferential m6A mRNA methylation in 3'UTR and near stop codon and associates with alternative polyadenylation. (PMID: 29507755) Yue Y … Liu J (Cell discovery 2018) 3

Products for CCSER1 Gene

Sources for CCSER1 Gene