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GSE1 Gse1 coiled-coil protein [ Homo sapiens (human) ]

Gene ID: 23199, updated on 3-Nov-2019

Summary

Official Symbol
GSE1provided by HGNC
Official Full Name
Gse1 coiled-coil proteinprovided by HGNC
Primary source
HGNC:HGNC:28979
See related
Ensembl:ENSG00000131149 MIM:616886
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CRHSP24; KIAA0182
Summary
This gene encodes a proline-rich protein with coiled coil domains that may be a subunit of a BRAF35-HDAC (BHC) histone deacetylase complex. This gene may function as an oncogene in breast cancer and enhanced expression of the encoded protein has been observed in breast cancer patients. [provided by RefSeq, May 2017]
Expression
Ubiquitous expression in placenta (RPKM 7.8), fat (RPKM 7.8) and 25 other tissues See more
Orthologs

Genomic context

See GSE1 in Genome Data Viewer
Location:
16q24.1
Exon count:
28
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 16 NC_000016.10 (85169512..85676200)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (85203152..85709812)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105371381 Neighboring gene uncharacterized LOC105371382 Neighboring gene long intergenic non-protein coding RNA 2139 Neighboring gene microRNA 12128 Neighboring gene uncharacterized LOC101928502 Neighboring gene long intergenic non-protein coding RNA 311 Neighboring gene cytochrome c oxidase subunit 6C pseudogene 16 Neighboring gene microRNA 5093 Neighboring gene RNA, 7SL, cytoplasmic 381, pseudogene Neighboring gene GINS complex subunit 2 Neighboring gene chromosome 16 open reading frame 74 Neighboring gene microRNA 1910 Neighboring gene RNA, U1 small nuclear 103, pseudogene Neighboring gene ER membrane protein complex subunit 8

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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA0182

Gene Ontology Provided by GOA

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

General protein information

Preferred Names
genetic suppressor element 1
Names
CTC-786C10.1
Gse1 coiled-coil protein homolog

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.

Genomic

  1. NG_054715.1 RefSeqGene

    Range
    448811..511689
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001134473.3NP_001127945.1  genetic suppressor element 1 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) contains an alternate 5' terminal exon, lacks an exon in the 5' region, and initiates translation from an in-frame downstream AUG, compared to variant 1. The resulting isoform (2) has a shorter N-terminus compared to isoform 1.
    Source sequence(s)
    AC123908, BC037556, D80004, GD138010
    Consensus CDS
    CCDS45539.1
    UniProtKB/Swiss-Prot
    Q14687
    Related
    ENSP00000384839.2, ENST00000405402.6
    Conserved Domains (2) summary
    pfam12540
    Location:628768
    DUF3736; Protein of unknown function (DUF3736)
    pfam16716
    Location:10381096
    BST2; Bone marrow stromal antigen 2
  2. NM_001278184.3NP_001265113.1  genetic suppressor element 1 isoform 3

    See identical proteins and their annotated locations for NP_001265113.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an in-frame exon in the 5' coding region compared to variant 1, which results in a shorter isoform (3) missing an internal protein segment compared to isoform 1.
    Source sequence(s)
    AC123908, BC037556, D80004, GD138010, HY041236
    Consensus CDS
    CCDS62007.1
    UniProtKB/Swiss-Prot
    Q14687
    Related
    ENSP00000376934.1, ENST00000393243.5
    Conserved Domains (2) summary
    pfam12540
    Location:659799
    DUF3736; Protein of unknown function (DUF3736)
    pfam16716
    Location:10691127
    BST2; Bone marrow stromal antigen 2
  3. NM_014615.5NP_055430.1  genetic suppressor element 1 isoform 1

    See identical proteins and their annotated locations for NP_055430.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AC123908, BC037556, D80004, GD138010, HY041236
    Consensus CDS
    CCDS10952.1
    UniProtKB/Swiss-Prot
    Q14687
    Related
    ENSP00000253458.6, ENST00000253458.12
    Conserved Domains (2) summary
    pfam12540
    Location:732872
    DUF3736; Protein of unknown function (DUF3736)
    pfam16716
    Location:11421200
    BST2; Bone marrow stromal antigen 2

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_000016.10 Reference GRCh38.p13 Primary Assembly

    Range
    85169512..85676200
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017023084.1XP_016878573.1  genetic suppressor element 1 isoform X9

  2. XM_005255860.3XP_005255917.3  genetic suppressor element 1 isoform X2

  3. XM_005255859.5XP_005255916.3  genetic suppressor element 1 isoform X1

  4. XM_005255861.5XP_005255918.3  genetic suppressor element 1 isoform X3

  5. XM_011522965.3XP_011521267.1  genetic suppressor element 1 isoform X4

    Conserved Domains (2) summary
    pfam12540
    Location:768908
    DUF3736; Protein of unknown function (DUF3736)
    pfam16716
    Location:11781236
    BST2; Bone marrow stromal antigen 2
  6. XM_005255863.4XP_005255920.1  genetic suppressor element 1 isoform X5

    Conserved Domains (2) summary
    pfam12540
    Location:744884
    DUF3736; Protein of unknown function (DUF3736)
    pfam16716
    Location:11541212
    BST2; Bone marrow stromal antigen 2
  7. XM_005255864.4XP_005255921.1  genetic suppressor element 1 isoform X6

    Conserved Domains (2) summary
    pfam12540
    Location:742882
    DUF3736; Protein of unknown function (DUF3736)
    pfam16716
    Location:11521210
    BST2; Bone marrow stromal antigen 2
  8. XM_005255865.4XP_005255922.1  genetic suppressor element 1 isoform X8

    Conserved Domains (2) summary
    pfam12540
    Location:669809
    DUF3736; Protein of unknown function (DUF3736)
    pfam16716
    Location:10791137
    BST2; Bone marrow stromal antigen 2
  9. XM_017023083.1XP_016878572.1  genetic suppressor element 1 isoform X7

    Conserved Domains (2) summary
    pfam12540
    Location:729869
    DUF3736; Protein of unknown function (DUF3736)
    pfam16716
    Location:11391197
    BST2; Bone marrow stromal antigen 2
  10. XM_011522966.3XP_011521268.1  genetic suppressor element 1 isoform X7

    Conserved Domains (2) summary
    pfam12540
    Location:729869
    DUF3736; Protein of unknown function (DUF3736)
    pfam16716
    Location:11391197
    BST2; Bone marrow stromal antigen 2

RNA

  1. XR_001751877.1 RNA Sequence

  2. XR_001751876.1 RNA Sequence

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