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

Gene ID: 79096, updated on 5-Mar-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
Expression
Ubiquitous expression in brain (RPKM 7.9), skin (RPKM 5.2) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
11p11.2
Exon count:
11
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (46936689..47164385)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (47093558..47321154)
105.20220307 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 ADP ribosylation factor 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
  • 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 (44) 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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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_2023_10

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

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