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CCSER1 coiled-coil serine rich protein 1 [ Homo sapiens (human) ]

Gene ID: 401145, updated on 3-Apr-2024

Summary

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Official Symbol
CCSER1provided by HGNC
Official Full Name
coiled-coil serine rich protein 1provided by HGNC
Primary source
HGNC:HGNC:29349
See related
Ensembl:ENSG00000184305 MIM:618934; AllianceGenome:HGNC:29349
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
FAM190A
Expression
Low expression observed in reference dataset See more
Orthologs
mouse all
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Genomic context

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See CCSER1 in Genome Data Viewer
Location:
4q22.1
Exon count:
32
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (90127394..91605295)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (93458641..94931554)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (91048545..92526446)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene MPRA-validated peak5070 silencer Neighboring gene VISTA enhancer hs1374 Neighboring gene uncharacterized LOC105377331 Neighboring gene multimerin 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21723 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15570 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15571 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15572 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr4:91105702-91106205 Neighboring gene Sharpr-MPRA regulatory region 11449 Neighboring gene RN7SK pseudogene 248 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr4:91525257-91526456 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr4:91754616-91755534 Neighboring gene TMSB4X pseudogene 8 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr4:91985765-91986264 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr4:92020560-92021363 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr4:92133114-92133732 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr4:92177098-92177736 Neighboring gene NANOG hESC enhancer GRCh37_chr4:92189716-92190272 Neighboring gene uncharacterized LOC124900733 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21725 Neighboring gene NANOG hESC enhancer GRCh37_chr4:92371022-92371547 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:92544662-92545502 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:92547183-92548021 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr4:92550289-92550831 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr4:92580856-92581378 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr4:92581379-92581901 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr4:92614849-92615391 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:92899097-92899690 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:92899691-92900284 Neighboring gene uncharacterized LOC112268468 Neighboring gene keratin 19 pseudogene 6

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Deletion of a pseudogene within a fragile site triggers the oncogenic expression of the mitotic CCSER1 gene. Santoliquido BM, et al. Life Sci Alliance, 2021 Aug. PMID 34187875, Free PMC Article
  2. FAM190A deficiency creates a cell division defect. Patel K, et al. Am J Pathol, 2013 Jul. PMID 23665203, Free PMC Article
  3. Analysis of GWAS top hits in ADHD suggests association to two polymorphisms located in genes expressed in the cerebellum. Lantieri F, et al. Am J Med Genet B Neuropsychiatr Genet, 2010 Sep. PMID 20607790
  4. No evidence of gene-calcium interactions from genome-wide analysis of colorectal cancer risk. Du M, et al. Cancer Epidemiol Biomarkers Prev, 2014 Dec. PMID 25192705, Free PMC Article
  5. GWAS of DNA methylation variation within imprinting control regions suggests parent-of-origin association. Rentería ME, et al. Twin Res Hum Genet, 2013 Aug. PMID 23725790

See all (25) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Deletion of a pseudogene within a fragile site triggers the oncogenic expression of the mitotic CCSER1 gene.
    Title: Deletion of a pseudogene within a fragile site triggers the oncogenic expression of the mitotic CCSER1 gene.
  2. FAM190A is a regulator or structural component required for normal mitosis and that both the rare truncating mutations and common in-frame deletion alteration of FAM190A may contribute to the chromosomal instability of cancer.
    Title: FAM190A deficiency creates a cell division defect.
  3. Two SNPs located in genes coding for as yet uncharacterized proteins expressed in the cerebellum, XKR4 in 8q12.1, and FAM190A in 4q22.1 suggest association with association with attention deficit hyperactivity disorder. [FAM190A]
    Title: Analysis of GWAS top hits in ADHD suggests association to two polymorphisms located in genes expressed in the cerebellum.
  4. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genetic Loci Associated with Circulating Levels of Very Long-Chain Saturated Fatty Acids.
EBI GWAS Catalog
Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.
EBI GWAS Catalog
Genome-wide association study of d-amphetamine response in healthy volunteers identifies putative associations, including cadherin 13 (CDH13).
EBI GWAS Catalog
Genome-wide association study of monoamine metabolite levels in human cerebrospinal fluid.
EBI GWAS Catalog
GWAS of DNA methylation variation within imprinting control regions suggests parent-of-origin association.
EBI GWAS Catalog
No evidence of gene-calcium interactions from genome-wide analysis of colorectal cancer risk.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • KIAA1680, MGC48628

General protein information

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Preferred Names
serine-rich coiled-coil domain-containing protein 1
Names
family with sequence similarity 190, member A
protein FAM190A

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001145065.2 → NP_001138537.1  serine-rich coiled-coil domain-containing protein 1 isoform 1

    See identical proteins and their annotated locations for NP_001138537.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AB051467, AC108038, AC110774, DB027029
    Consensus CDS
    CCDS47099.1
    UniProtKB/Swiss-Prot
    Q4W5M0, Q86V57, Q9C0I3
    Related
    ENSP00000425040.1, ENST00000509176.6

  2. NM_001377987.1 → NP_001364916.1  serine-rich coiled-coil domain-containing protein 1 isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC019188, AC093729, AC093781, AC098593, AC108038
    UniProtKB/TrEMBL
    E7EUW0

  3. NM_207491.2 → NP_997374.1  serine-rich coiled-coil domain-containing protein 1 isoform 2

    See identical proteins and their annotated locations for NP_997374.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) has an alternate 5' UTR exon and an alternate 3' exon including the coding region, and lacks several 3' exons, as compared to variant 1. The resulting isoform (2) has a shorter and different C-terminus, as compared to isoform 1.
    Source sequence(s)
    AC019188, BC051694
    Consensus CDS
    CCDS47100.1
    UniProtKB/TrEMBL
    E7EUW0
    Related
    ENSP00000389283.2, ENST00000432775.6

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

    Range
    90127394..91605295
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011531936.2 → XP_011530238.1  serine-rich coiled-coil domain-containing protein 1 isoform X1

    See identical proteins and their annotated locations for XP_011530238.1

  2. XM_047415679.1 → XP_047271635.1  serine-rich coiled-coil domain-containing protein 1 isoform X3

  3. XM_011531943.3 → XP_011530245.1  serine-rich coiled-coil domain-containing protein 1 isoform X6

    UniProtKB/TrEMBL
    E7EUW0

  4. XM_011531942.3 → XP_011530244.1  serine-rich coiled-coil domain-containing protein 1 isoform X5

    UniProtKB/TrEMBL
    E7EUW0

  5. XM_017008195.2 → XP_016863684.1  serine-rich coiled-coil domain-containing protein 1 isoform X7

    UniProtKB/TrEMBL
    E7EUW0

  6. XM_011531941.3 → XP_011530243.1  serine-rich coiled-coil domain-containing protein 1 isoform X4

    UniProtKB/TrEMBL
    E7EUW0

  7. XM_011531947.2 → XP_011530249.1  serine-rich coiled-coil domain-containing protein 1 isoform X8

    See identical proteins and their annotated locations for XP_011530249.1

    UniProtKB/TrEMBL
    E7EUW0

  8. XM_011531951.2 → XP_011530253.1  serine-rich coiled-coil domain-containing protein 1 isoform X10

    See identical proteins and their annotated locations for XP_011530253.1

    UniProtKB/TrEMBL
    E7EUW0

  9. XM_011531950.3 → XP_011530252.1  serine-rich coiled-coil domain-containing protein 1 isoform X10

    See identical proteins and their annotated locations for XP_011530252.1

    UniProtKB/TrEMBL
    E7EUW0

  10. XM_011531946.3 → XP_011530248.1  serine-rich coiled-coil domain-containing protein 1 isoform X8

    See identical proteins and their annotated locations for XP_011530248.1

    UniProtKB/TrEMBL
    E7EUW0

  11. XM_011531949.3 → XP_011530251.1  serine-rich coiled-coil domain-containing protein 1 isoform X10

    See identical proteins and their annotated locations for XP_011530251.1

    UniProtKB/TrEMBL
    E7EUW0

  12. XM_017008199.2 → XP_016863688.1  serine-rich coiled-coil domain-containing protein 1 isoform X16

    UniProtKB/TrEMBL
    E7EUW0

  13. XM_011531945.2 → XP_011530247.1  serine-rich coiled-coil domain-containing protein 1 isoform X8

    See identical proteins and their annotated locations for XP_011530247.1

    UniProtKB/TrEMBL
    E7EUW0

  14. XM_011531948.2 → XP_011530250.1  serine-rich coiled-coil domain-containing protein 1 isoform X9

    UniProtKB/TrEMBL
    E7EUW0

  15. XM_011531956.3 → XP_011530258.1  serine-rich coiled-coil domain-containing protein 1 isoform X15

    UniProtKB/TrEMBL
    E7EUW0

  16. XM_047415680.1 → XP_047271636.1  serine-rich coiled-coil domain-containing protein 1 isoform X11

  17. XM_011531955.3 → XP_011530257.1  serine-rich coiled-coil domain-containing protein 1 isoform X14

    UniProtKB/TrEMBL
    E7EUW0

  18. XM_011531957.3 → XP_011530259.1  serine-rich coiled-coil domain-containing protein 1 isoform X17

    UniProtKB/TrEMBL
    E7EUW0

  19. XM_047415683.1 → XP_047271639.1  serine-rich coiled-coil domain-containing protein 1 isoform X19

    Related
    ENSP00000420964.1, ENST00000505073.5

  20. XM_017008198.2 → XP_016863687.1  serine-rich coiled-coil domain-containing protein 1 isoform X13

    UniProtKB/TrEMBL
    E7EUW0

  21. XM_011531958.2 → XP_011530260.1  serine-rich coiled-coil domain-containing protein 1 isoform X18

    UniProtKB/TrEMBL
    E7EUW0

  22. XM_017008201.2 → XP_016863690.1  serine-rich coiled-coil domain-containing protein 1 isoform X21

  23. XM_047415684.1 → XP_047271640.1  serine-rich coiled-coil domain-containing protein 1 isoform X22

  24. XM_017008200.2 → XP_016863689.1  serine-rich coiled-coil domain-containing protein 1 isoform X20

  25. XM_017008194.2 → XP_016863683.1  serine-rich coiled-coil domain-containing protein 1 isoform X1

  26. XM_011531938.3 → XP_011530240.1  serine-rich coiled-coil domain-containing protein 1 isoform X1

    See identical proteins and their annotated locations for XP_011530240.1

  27. XM_047415678.1 → XP_047271634.1  serine-rich coiled-coil domain-containing protein 1 isoform X2

    UniProtKB/Swiss-Prot
    Q4W5M0, Q86V57, Q9C0I3

  28. XM_047415681.1 → XP_047271637.1  serine-rich coiled-coil domain-containing protein 1 isoform X12

  29. XM_011531937.3 → XP_011530239.1  serine-rich coiled-coil domain-containing protein 1 isoform X1

    See identical proteins and their annotated locations for XP_011530239.1

  30. XM_011531939.3 → XP_011530241.1  serine-rich coiled-coil domain-containing protein 1 isoform X1

    See identical proteins and their annotated locations for XP_011530241.1

RNA

  1. XR_001741218.2 RNA Sequence

  2. XR_938733.3 RNA Sequence

  3. XR_938734.3 RNA Sequence

  4. XR_938735.2 RNA Sequence

  5. XR_007057924.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060928.1 Alternate T2T-CHM13v2.0

    Range
    93458641..94931554
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054349991.1 → XP_054205966.1  serine-rich coiled-coil domain-containing protein 1 isoform X1

  2. XM_054349997.1 → XP_054205972.1  serine-rich coiled-coil domain-containing protein 1 isoform X3

  3. XM_054350000.1 → XP_054205975.1  serine-rich coiled-coil domain-containing protein 1 isoform X6

  4. XM_054349999.1 → XP_054205974.1  serine-rich coiled-coil domain-containing protein 1 isoform X5

  5. XM_054350001.1 → XP_054205976.1  serine-rich coiled-coil domain-containing protein 1 isoform X7

  6. XM_054349998.1 → XP_054205973.1  serine-rich coiled-coil domain-containing protein 1 isoform X4

  7. XM_054350002.1 → XP_054205977.1  serine-rich coiled-coil domain-containing protein 1 isoform X8

  8. XM_054350007.1 → XP_054205982.1  serine-rich coiled-coil domain-containing protein 1 isoform X10

  9. XM_054350008.1 → XP_054205983.1  serine-rich coiled-coil domain-containing protein 1 isoform X10

  10. XM_054350003.1 → XP_054205978.1  serine-rich coiled-coil domain-containing protein 1 isoform X8

  11. XM_054350006.1 → XP_054205981.1  serine-rich coiled-coil domain-containing protein 1 isoform X10

  12. XM_054350014.1 → XP_054205989.1  serine-rich coiled-coil domain-containing protein 1 isoform X16

  13. XM_054350004.1 → XP_054205979.1  serine-rich coiled-coil domain-containing protein 1 isoform X8

  14. XM_054350005.1 → XP_054205980.1  serine-rich coiled-coil domain-containing protein 1 isoform X9

  15. XM_054350013.1 → XP_054205988.1  serine-rich coiled-coil domain-containing protein 1 isoform X15

  16. XM_054350009.1 → XP_054205984.1  serine-rich coiled-coil domain-containing protein 1 isoform X11

  17. XM_054350012.1 → XP_054205987.1  serine-rich coiled-coil domain-containing protein 1 isoform X14

  18. XM_054350015.1 → XP_054205990.1  serine-rich coiled-coil domain-containing protein 1 isoform X17

  19. XM_054350017.1 → XP_054205992.1  serine-rich coiled-coil domain-containing protein 1 isoform X19

  20. XM_054350011.1 → XP_054205986.1  serine-rich coiled-coil domain-containing protein 1 isoform X13

  21. XM_054350016.1 → XP_054205991.1  serine-rich coiled-coil domain-containing protein 1 isoform X18

  22. XM_054350019.1 → XP_054205994.1  serine-rich coiled-coil domain-containing protein 1 isoform X21

  23. XM_054350020.1 → XP_054205995.1  serine-rich coiled-coil domain-containing protein 1 isoform X22

  24. XM_054350018.1 → XP_054205993.1  serine-rich coiled-coil domain-containing protein 1 isoform X23

  25. XM_054349995.1 → XP_054205970.1  serine-rich coiled-coil domain-containing protein 1 isoform X1

  26. XM_054349992.1 → XP_054205967.1  serine-rich coiled-coil domain-containing protein 1 isoform X1

  27. XM_054349996.1 → XP_054205971.1  serine-rich coiled-coil domain-containing protein 1 isoform X2

  28. XM_054350010.1 → XP_054205985.1  serine-rich coiled-coil domain-containing protein 1 isoform X12

  29. XM_054349994.1 → XP_054205969.1  serine-rich coiled-coil domain-containing protein 1 isoform X1

  30. XM_054349993.1 → XP_054205968.1  serine-rich coiled-coil domain-containing protein 1 isoform X1

RNA

  1. XR_008486979.1 RNA Sequence

  2. XR_008486980.1 RNA Sequence

  3. XR_008486981.1 RNA Sequence

  4. XR_008486982.1 RNA Sequence

  5. XR_008486983.1 RNA Sequence

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9C0I3.2 GenPept UniProtKB/Swiss-Prot:Q9C0I3

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