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    CSTPP1 centriolar satellite-associated tubulin polyglutamylase complex regulator 1 [ Homo sapiens (human) ]

    Gene ID: 79096, updated on 28-Oct-2024

    Summary

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    Official Symbol
    CSTPP1provided by HGNC
    Official Full Name
    centriolar satellite-associated tubulin polyglutamylase complex regulator 1provided by HGNC
    Primary source
    HGNC:HGNC:28720
    See related
    Ensembl:ENSG00000149179 MIM:620479; AllianceGenome:HGNC:28720
    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
    C11orf49
    Summary
    Enables protein-macromolecule adaptor activity. Involved in regulation of protein complex stability. Is active in centriolar satellite. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Ubiquitous expression in brain (RPKM 7.9), skin (RPKM 5.2) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CSTPP1 in Genome Data Viewer
    Location:
    11p11.2
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (46936689..47164385)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (47093558..47321154)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (46958240..47185936)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene cytoskeleton associated protein 5 Neighboring gene small nucleolar RNA, C/D box 67 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:46848289-46848839 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:46847736-46848288 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:46865110-46866015 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr11:46867074-46867651 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3316 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4685 Neighboring gene LRP4 antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:46917923-46918648 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:46927480-46928314 Neighboring gene LDL receptor related protein 4 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:46928315-46929147 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:46938291-46939162 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3317 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3318 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3319 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr11:46940326-46940830 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:46941525-46942026 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:46942027-46942526 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:46946339-46946839 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4686 Neighboring gene uncharacterized LOC124902670 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3320 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:47029651-47030151 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr11:47054947-47055522 Neighboring gene ATPase Get3-like Neighboring gene NANOG hESC enhancer GRCh37_chr11:47078806-47079355 Neighboring gene uncharacterized LOC124902671 Neighboring gene uncharacterized LOC124902672 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4687 Neighboring gene Sharpr-MPRA regulatory region 11477 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4688 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3321 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:47198949-47199530 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:47207755-47208641 Neighboring gene ARF GTPase activating protein 2 Neighboring gene ribosomal protein S20 pseudogene 26 Neighboring gene protein kinase C and casein kinase substrate in neurons 3 Neighboring gene microRNA 6745

    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 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. Two new susceptibility loci 1q24.2 and 11p11.2 confer risk to severe acne. He L, et al. Nat Commun, 2014. PMID 24399259
    2. Regulators of tubulin polyglutamylation control nuclear shape and cilium disassembly by balancing microtubule and actin assembly. Wang L, et al. Cell Res, 2022 Feb. PMID 34782749, Free PMC Article
    3. Genetic predictors of fibrin D-dimer levels in healthy adults. Smith NL, et al. Circulation, 2011 May 3. PMID 21502573, Free PMC Article
    4. Genome-Wide CRISPR-Cas9 Screens Expose Genetic Vulnerabilities and Mechanisms of Temozolomide Sensitivity in Glioblastoma Stem Cells. MacLeod G, et al. Cell Rep, 2019 Apr 16. PMID 30995489
    5. Proximity interactions of the ubiquitin ligase Mind bomb 1 reveal a role in regulation of epithelial polarity complex proteins. Dho SE, et al. Sci Rep, 2019 Aug 28. PMID 31462741, Free PMC Article

    See all (50) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. 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 predictors of fibrin D-dimer levels in healthy adults.
    EBI GWAS Catalog
    Two new susceptibility loci 1q24.2 and 11p11.2 confer risk to severe acne.
    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

    • MGC4707, FLJ22210

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein-macromolecule adaptor activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in regulation of protein complex stability IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in centriolar satellite IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in centriolar satellite IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in microtubule IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    centriolar satellite-associated tubulin polyglutamylase complex regulator 1
    Names
    UPF0705 protein C11orf49
    centriolar satellite-associated tubulin polyglutamylation protein 1

    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_001003676.3 → NP_001003676.1  centriolar satellite-associated tubulin polyglutamylase complex regulator 1 isoform 1

      See identical proteins and their annotated locations for NP_001003676.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) lacks the 3' splice junction, compared to variant 2. The resulting isoform (1) is C-terminal truncated, compared to isoform 2.
      Source sequence(s)
      BC052291, DA487960
      Consensus CDS
      CCDS41641.1
      UniProtKB/Swiss-Prot
      Q9H6J7
      Related
      ENSP00000378844.2, ENST00000395460.6

    2. NM_001003677.3 → NP_001003677.1  centriolar satellite-associated tubulin polyglutamylase complex regulator 1 isoform 2

      See identical proteins and their annotated locations for NP_001003677.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) encodes the longest isoform (2).
      Source sequence(s)
      BC013988, DA487960
      Consensus CDS
      CCDS31480.1
      UniProtKB/Swiss-Prot
      Q9H6J7
      Related
      ENSP00000367878.3, ENST00000378615.7

    3. NM_001003678.3 → NP_001003678.1  centriolar satellite-associated tubulin polyglutamylase complex regulator 1 isoform 4

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) has an alternate 3' terminal exon, compared to variant 2. The resulting isoform (4) has a shorter and distinct C-terminus, compared to isoform 2.
      Source sequence(s)
      AC090589, BU728094, CK724853, DB027437
      Consensus CDS
      CCDS31479.1
      UniProtKB/Swiss-Prot
      Q9H6J7
      Related
      ENSP00000367881.2, ENST00000378618.6

    4. NM_001278222.1 → NP_001265151.1  centriolar satellite-associated tubulin polyglutamylase complex regulator 1 isoform 5

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) lacks an exon in the 5' coding region which results in an upstream start codon, and has an alternate splice site in the 3' coding region, compared to variant 2. The resulting isoform (5) has a distinct N-terminus and lacks an internal segment in the C-terminal region, compared to isoform 2.
      Source sequence(s)
      AK300813, BI763384, DA487960
      UniProtKB/TrEMBL
      B4DUV7

    5. NM_024113.5 → NP_077018.1  centriolar satellite-associated tubulin polyglutamylase complex regulator 1 isoform 3

      See identical proteins and their annotated locations for NP_077018.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) has an alternate splice site in the 3' coding region, compared to variant 2. The resulting isoform (3) lacks an internal segment in the C-terminal region, compared to isoform 2.
      Source sequence(s)
      BC001860
      Consensus CDS
      CCDS7925.1
      UniProtKB/Swiss-Prot
      D3DQQ8, E9PAX7, Q7L077, Q96CS8, Q9BQH4, Q9BUW5, Q9H6J7
      Related
      ENSP00000278460.8, ENST00000278460.12

    RNA

    1. NR_103471.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (6) has an additional exon in the 5' region and lacks an alternate segment in the 3' region, compared to variant 2. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 2, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AK316318, BC009455, DA374145

    2. NR_103472.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (7) lacks an exon in the 5' region and a segment in the 3' region, compared to variant 2. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 2, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AK293609, BC001860, BI763384, DA487960
      Related
      ENST00000525895.5

    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_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      46936689..47164385
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      47093558..47321154
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9H6J7.2 GenPept UniProtKB/Swiss-Prot:Q9H6J7

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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