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

Gene ID: 401145, updated on 12-Oct-2019

Summary

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
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

Genomic context

See CCSER1 in Genome Data Viewer
Location:
4q22.1
Exon count:
32
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 4 NC_000004.12 (90127394..91602219)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (91048684..92523370)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene VISTA enhancer hs1374 Neighboring gene uncharacterized LOC105377331 Neighboring gene RN7SK pseudogene 248 Neighboring gene TMSB4X pseudogene 8 Neighboring gene uncharacterized LOC112268468 Neighboring gene keratin 19 pseudogene 6

Genomic regions, transcripts, and products

Expression

  • 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

Phenotypes

NHGRI GWAS Catalog

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA1680, MGC48628

General protein information

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

NCBI Reference Sequences (RefSeq)

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_001145065.1NP_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 longer isoform (1).
    Source sequence(s)
    AB051467, AC110774, DB027029
    Consensus CDS
    CCDS47099.1
    UniProtKB/Swiss-Prot
    Q9C0I3
    Related
    ENSP00000425040.1, ENST00000509176.5
  2. NM_207491.2NP_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/Swiss-Prot
    Q9C0I3
    Related
    ENSP00000389283.2, ENST00000432775.6

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20190905

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p13 Primary Assembly

    Range
    90127394..91602219
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011531936.1XP_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_011531943.2XP_011530245.1  serine-rich coiled-coil domain-containing protein 1 isoform X4

  3. XM_011531942.2XP_011530244.1  serine-rich coiled-coil domain-containing protein 1 isoform X3

  4. XM_017008195.1XP_016863684.1  serine-rich coiled-coil domain-containing protein 1 isoform X5

  5. XM_011531941.2XP_011530243.1  serine-rich coiled-coil domain-containing protein 1 isoform X2

  6. XM_011531947.2XP_011530249.1  serine-rich coiled-coil domain-containing protein 1 isoform X6

    See identical proteins and their annotated locations for XP_011530249.1

  7. XM_011531951.2XP_011530253.1  serine-rich coiled-coil domain-containing protein 1 isoform X8

    See identical proteins and their annotated locations for XP_011530253.1

  8. XM_011531950.2XP_011530252.1  serine-rich coiled-coil domain-containing protein 1 isoform X8

    See identical proteins and their annotated locations for XP_011530252.1

  9. XM_011531946.2XP_011530248.1  serine-rich coiled-coil domain-containing protein 1 isoform X6

    See identical proteins and their annotated locations for XP_011530248.1

  10. XM_011531949.2XP_011530251.1  serine-rich coiled-coil domain-containing protein 1 isoform X8

    See identical proteins and their annotated locations for XP_011530251.1

  11. XM_017008199.1XP_016863688.1  serine-rich coiled-coil domain-containing protein 1 isoform X14

  12. XM_011531945.1XP_011530247.1  serine-rich coiled-coil domain-containing protein 1 isoform X6

    See identical proteins and their annotated locations for XP_011530247.1

  13. XM_011531948.1XP_011530250.1  serine-rich coiled-coil domain-containing protein 1 isoform X7

  14. XM_017008197.1XP_016863686.1  serine-rich coiled-coil domain-containing protein 1 isoform X10

  15. XM_011531956.2XP_011530258.1  serine-rich coiled-coil domain-containing protein 1 isoform X13

  16. XM_011531955.2XP_011530257.1  serine-rich coiled-coil domain-containing protein 1 isoform X12

  17. XM_011531957.2XP_011530259.1  serine-rich coiled-coil domain-containing protein 1 isoform X15

  18. XM_017008198.1XP_016863687.1  serine-rich coiled-coil domain-containing protein 1 isoform X11

  19. XM_017008196.1XP_016863685.1  serine-rich coiled-coil domain-containing protein 1 isoform X9

  20. XM_011531958.2XP_011530260.1  serine-rich coiled-coil domain-containing protein 1 isoform X16

  21. XM_017008201.1XP_016863690.1  serine-rich coiled-coil domain-containing protein 1 isoform X18

  22. XM_017008200.1XP_016863689.1  serine-rich coiled-coil domain-containing protein 1 isoform X17

  23. XM_017008194.1XP_016863683.1  serine-rich coiled-coil domain-containing protein 1 isoform X1

  24. XM_011531938.2XP_011530240.1  serine-rich coiled-coil domain-containing protein 1 isoform X1

    See identical proteins and their annotated locations for XP_011530240.1

  25. XM_011531937.2XP_011530239.1  serine-rich coiled-coil domain-containing protein 1 isoform X1

    See identical proteins and their annotated locations for XP_011530239.1

  26. XM_011531939.2XP_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_001741218.1 RNA Sequence

  2. XR_938733.2 RNA Sequence

  3. XR_938734.2 RNA Sequence

  4. XR_938735.2 RNA Sequence

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