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Aliases for CCSER1 Gene

Aliases for CCSER1 Gene

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

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.

No data available for Entrez Gene Summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CCSER1 Gene

Genomics for CCSER1 Gene

Regulatory Elements for CCSER1 Gene

Enhancers for CCSER1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH04F090126 1.4 FANTOM5 ENCODE 12.2 +0.8 834 3.0 PKNOX1 FEZF1 ZNF2 GLIS2 ZNF202 ZNF263 SP3 REST TSHZ1 ZNF518A CCSER1 PIR31490 GC04P090217
GH04F090099 0.2 ENCODE 11.5 -27.4 -27370 0.2 FOS CCSER1 LOC105377331
GH04F090071 0.4 Ensembl 11.5 -55.4 -55394 1.2 IKZF1 SPI1 CCSER1 LOC105377331 MMRN1
GH04F090074 0.2 Ensembl 11.4 -52.7 -52694 0.2 PKNOX1 TEAD4 CCSER1 LOC105377331 MMRN1
GH04F090027 0.4 ENCODE 10.9 -99.7 -99670 0.2 MTA2 TRIM22 BMI1 TBX21 EP300 SPI1 RELA CCSER1 LOC105377331 MMRN1
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around CCSER1 on UCSC Golden Path with GeneCards custom track

Promoters for CCSER1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001245352 807 2799 PKNOX1 FEZF1 ZNF2 GLIS2 ZNF202 ZNF263 SP3 REST TSHZ1 ZNF610

Genomic Location for CCSER1 Gene

Chromosome:
4
Start:
90,127,394 bp from pter
End:
91,602,219 bp from pter
Size:
1,474,826 bases
Orientation:
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:
    Q9C0I3-CCSE1_HUMAN
    Recommended name:
    Serine-rich coiled-coil domain-containing protein 1
    Protein Accession:
    Q9C0I3
    Secondary Accessions:
    • Q4W5M0
    • Q86V57

    Protein attributes for CCSER1 Gene

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

    Alternative splice isoforms for CCSER1 Gene

    UniProtKB/Swiss-Prot:

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

Protein Domains for CCSER1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CCSER1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9C0I3

UniProtKB/Swiss-Prot:

CCSE1_HUMAN :
  • Belongs to the CCSER family.
Family:
  • Belongs to the CCSER family.
genes like me logo Genes that share domains with CCSER1: view

No data available for Gene Families for CCSER1 Gene

Function for CCSER1 Gene

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

Animal Model Products

miRNA for CCSER1 Gene

miRTarBase miRNAs that target CCSER1

Inhibitory RNA Products

Flow Cytometry Products

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

Localization for CCSER1 Gene

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from COMPARTMENTS and Gene Ontology (GO) - Cellular Components for CCSER1 Gene

Pathways & Interactions for CCSER1 Gene

SuperPathways for CCSER1 Gene

No Data Available

Interacting Proteins for CCSER1 Gene

Gene Ontology (GO) - Biological Process for CCSER1 Gene

None

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

Transcripts for CCSER1 Gene

Unigene Clusters for CCSER1 Gene

Coiled-coil serine-rich protein 1:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

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

No ASD Table

Relevant External Links for CCSER1 Gene

GeneLoc Exon Structure for
CCSER1
ECgene alternative splicing isoforms for
CCSER1

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

NURSA nuclear receptor signaling pathways regulating expression of CCSER1 Gene:

CCSER1

SOURCE GeneReport for Unigene cluster for CCSER1 Gene:

Hs.654735
genes like me logo Genes that share expression patterns with CCSER1: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt 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
chimpanzee
(Pan troglodytes)
Mammalia FAM190A 34
  • 99.41 (n)
CCSER1 35
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia FAM190A 34
  • 91.81 (n)
CCSER1 35
  • 88 (a)
OneToOne
cow
(Bos Taurus)
Mammalia CCSER1 34 35
  • 89.98 (n)
mouse
(Mus musculus)
Mammalia Ccser1 34 16 35
  • 81.45 (n)
rat
(Rattus norvegicus)
Mammalia Ccser1 34
  • 81.34 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia CCSER1 35
  • 64 (a)
OneToOne
chicken
(Gallus gallus)
Aves FAM190A 34
  • 70.34 (n)
CCSER1 35
  • 63 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CCSER1 35
  • 60 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ccser1 34
  • 63.03 (n)
zebrafish
(Danio rerio)
Actinopterygii si:dkey-53d10.1 34
  • 56.37 (n)
CCSER1 35
  • 45 (a)
OneToOne
Species where no ortholog for CCSER1 was found in the sources mined by GeneCards:
  • 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)
  • 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 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 CCSER1 Gene

ENSEMBL:
Gene Tree for CCSER1 (if available)
TreeFam:
Gene Tree for CCSER1 (if available)

Paralogs for CCSER1 Gene

No data available for Paralogs for CCSER1 Gene

Variants for CCSER1 Gene

Sequence variations from dbSNP and Humsavar for CCSER1 Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type
rs10000079 -- 90,947,340(+) ATCAT(C/G)TTTTT intron-variant
rs10000109 -- 90,446,118(+) AACTT(A/T)GAATC intron-variant
rs10000355 -- 90,586,706(+) AAAAT(A/C)ATTTT intron-variant
rs10000741 -- 90,375,843(+) tgatt(A/T)acctg intron-variant
rs10000742 -- 90,375,844(+) gatta(A/C)cctga intron-variant

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)

Relevant External Links for CCSER1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CCSER1

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

Disorders for CCSER1 Gene

Relevant External Links for CCSER1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 Res. 2000) 2 3 4 64
  2. Genetic loci associated with circulating levels of very long-chain saturated fatty acids. (PMID: 25378659) Lemaitre R.N. … Friedlander Y. (J. Lipid Res. 2015) 3 64
  3. Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations. (PMID: 24529757) Xie T. … Xu R. (Neurobiol. Aging 2014) 3 64
  4. No evidence of gene-calcium interactions from genome-wide analysis of colorectal cancer risk. (PMID: 25192705) Du M. … Potter J.D. (Cancer Epidemiol. Biomarkers Prev. 2014) 3 64
  5. Genome-wide association study of monoamine metabolite levels in human cerebrospinal fluid. (PMID: 23319000) Luykx J.J. … Ophoff R.A. (Mol. Psychiatry 2013) 3 64

Products for CCSER1 Gene

Sources for CCSER1 Gene

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