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

    Gene ID: 401145, updated on 27-Nov-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
    Summary
    Implicated in cocaine dependence. [provided by Alliance of Genome Resources, Nov 2024]
    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_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (90127394..91605295)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (93458641..94931554)
    RS_2024_09 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 (26) 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)

    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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 

    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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    NEW Try the new Transcript table

    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_2024_08

    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

    Gene LinkOut

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