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    CSPP1 centrosome and spindle pole associated protein 1 [ Homo sapiens (human) ]

    Gene ID: 79848, updated on 4-Jul-2021

    Summary

    Official Symbol
    CSPP1provided by HGNC
    Official Full Name
    centrosome and spindle pole associated protein 1provided by HGNC
    Primary source
    HGNC:HGNC:26193
    See related
    Ensembl:ENSG00000104218 MIM:611654
    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
    CSPP; CSPP-L; JBTS21
    Summary
    This gene encodes a centrosome and spindle pole associated protein. The encoded protein plays a role in cell-cycle progression and spindle organization, regulates cytokinesis, interacts with Nephrocystin 8 and is required for cilia formation. Mutations in this gene result in primary cilia abnormalities and classical Joubert syndrome. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Apr 2014]
    Expression
    Broad expression in testis (RPKM 7.4), kidney (RPKM 3.8) and 25 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See CSPP1 in Genome Data Viewer
    Location:
    8q13.1-q13.2
    Exon count:
    35
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 8 NC_000008.11 (67062417..67198003)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (67976603..68108849)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105375885 Neighboring gene COP9 signalosome subunit 5 Neighboring gene RNA, 5S ribosomal pseudogene 268 Neighboring gene ADP ribosylation factor guanine nucleotide exchange factor 1 Neighboring gene nucleophosmin 1 pseudogene 44 Neighboring gene ARFGEF1 divergent transcript Neighboring gene CRISPRi-validated cis-regulatory element chr8.1934 Neighboring gene ribosomal protein L17 pseudogene 31

    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?

    HIV-1 interactions

    Replication interactions

    Interaction Pubs
    Knockdown of centrosome and spindle pole associated protein 1 (CSPP1) by siRNA inhibits HIV-1 replication in HeLa-derived TZM-bl cells PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ22490, FLJ38886

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in positive regulation of cell division IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of cytokinesis IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in positive regulation of cytokinesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in centrosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in centrosome 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
     
    located_in spindle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in spindle pole IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in spindle pole IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    centrosome and spindle pole-associated protein 1

    NCBI Reference Sequences (RefSeq)

    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.

    Genomic

    1. NG_034100.1 RefSeqGene

      Range
      5001..137247
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001291339.2NP_001278268.1  centrosome and spindle pole-associated protein 1 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) contains a distinct 5' UTR, and lacks an in-frame portion of the 5' coding region and an internal in-frame exon, compared to variant 1. The resulting isoform (2, also known as CSPP) has a shorter N-terminus and lacks an internal segment, compared to isoform 1.
      Source sequence(s)
      AJ583433, AK026143, AK308372, AM156947, CA447290, DB030075
      Consensus CDS
      CCDS78344.1
      UniProtKB/Swiss-Prot
      Q1MSJ5
      UniProtKB/TrEMBL
      Q9H688
      Related
      ENSP00000430092.1, ENST00000519668.1
    2. NM_001363131.2NP_001350060.1  centrosome and spindle pole-associated protein 1 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AC087359, AC109335, CA447290, DA177690
      Related
      ENSP00000501676.1, ENST00000675955.1
    3. NM_001363132.2NP_001350061.1  centrosome and spindle pole-associated protein 1 isoform 4

      Status: REVIEWED

      Source sequence(s)
      AM156947, BG698003, BM555375, BX649147, CA447290, DB046430, DW426634, HY040643
      Related
      ENSP00000502747.1, ENST00000675869.1
    4. NM_001363133.2NP_001350062.1  centrosome and spindle pole-associated protein 1 isoform 5

      Status: REVIEWED

      Source sequence(s)
      AC087359, BG698003, BM555375, CA447290, DA177690
      Related
      ENSP00000502421.1, ENST00000675306.2
    5. NM_001364869.1NP_001351798.1  centrosome and spindle pole-associated protein 1 isoform 6

      Status: REVIEWED

      Source sequence(s)
      AC087359, AC109335
      Related
      ENSP00000262210.6, ENST00000262210.11
    6. NM_001364870.1NP_001351799.1  centrosome and spindle pole-associated protein 1 isoform 7

      Status: REVIEWED

      Source sequence(s)
      AC087359, AC109335
      Related
      ENSP00000504342.1, ENST00000676882.1
    7. NM_001382391.1NP_001369320.1  centrosome and spindle pole-associated protein 1 isoform 8

      Status: REVIEWED

      Source sequence(s)
      AC087359, AC109335
      Related
      ENSP00000504733.1, ENST00000678616.1
    8. NM_024790.6NP_079066.5  centrosome and spindle pole-associated protein 1 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1, also known as CSPP-L).
      Source sequence(s)
      AM156947, BX649147, CA447290
      Consensus CDS
      CCDS43744.1
      UniProtKB/Swiss-Prot
      Q1MSJ5
      Related
      ENSP00000502047.1, ENST00000676317.1

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p13 Primary Assembly

      Range
      67062417..67198003
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011517598.2XP_011515900.1  centrosome and spindle pole-associated protein 1 isoform X1

    2. XM_005251305.4XP_005251362.2  centrosome and spindle pole-associated protein 1 isoform X3

      Related
      ENSP00000502454.1, ENST00000674993.1
    3. XM_006716474.3XP_006716537.2  centrosome and spindle pole-associated protein 1 isoform X9

    4. XM_017013847.2XP_016869336.1  centrosome and spindle pole-associated protein 1 isoform X6

    5. XM_006716477.3XP_006716540.2  centrosome and spindle pole-associated protein 1 isoform X19

    6. XM_011517599.2XP_011515901.1  centrosome and spindle pole-associated protein 1 isoform X2

      Related
      ENSP00000503878.1, ENST00000678542.1
    7. XM_011517600.2XP_011515902.1  centrosome and spindle pole-associated protein 1 isoform X4

    8. XM_017013848.2XP_016869337.1  centrosome and spindle pole-associated protein 1 isoform X8

      Related
      ENSP00000504516.1, ENST00000677592.1
    9. XM_017013854.2XP_016869343.1  centrosome and spindle pole-associated protein 1 isoform X20

      Related
      ENSP00000503690.1, ENST00000678318.1
    10. XM_011517601.2XP_011515903.1  centrosome and spindle pole-associated protein 1 isoform X5

    11. XM_011517602.2XP_011515904.1  centrosome and spindle pole-associated protein 1 isoform X7

    12. XM_017013849.2XP_016869338.1  centrosome and spindle pole-associated protein 1 isoform X10

    13. XM_017013850.2XP_016869339.1  centrosome and spindle pole-associated protein 1 isoform X12

    14. XM_017013852.2XP_016869341.1  centrosome and spindle pole-associated protein 1 isoform X16

      Related
      ENSP00000503711.1, ENST00000676471.1
    15. XM_017013855.2XP_016869344.1  centrosome and spindle pole-associated protein 1 isoform X21

      Related
      ENSP00000504532.1, ENST00000676573.1
    16. XM_024447279.1XP_024303047.1  centrosome and spindle pole-associated protein 1 isoform X14

    17. XM_011517607.2XP_011515909.1  centrosome and spindle pole-associated protein 1 isoform X13

      See identical proteins and their annotated locations for XP_011515909.1

    18. XM_011517603.2XP_011515905.1  centrosome and spindle pole-associated protein 1 isoform X11

      See identical proteins and their annotated locations for XP_011515905.1

    19. XM_024447282.1XP_024303050.1  centrosome and spindle pole-associated protein 1 isoform X22

      Related
      ENSP00000503390.1, ENST00000678747.1
    20. XM_017013851.2XP_016869340.1  centrosome and spindle pole-associated protein 1 isoform X15

      Related
      ENSP00000504031.1, ENST00000678645.1
    21. XM_017013856.2XP_016869345.1  centrosome and spindle pole-associated protein 1 isoform X23

      Related
      ENSP00000504522.1, ENST00000677619.1
    22. XM_024447283.1XP_024303051.1  centrosome and spindle pole-associated protein 1 isoform X25

    23. XM_024447281.1XP_024303049.1  centrosome and spindle pole-associated protein 1 isoform X18

    24. XM_024447284.1XP_024303052.1  centrosome and spindle pole-associated protein 1 isoform X26

    25. XM_017013858.2XP_016869347.1  centrosome and spindle pole-associated protein 1 isoform X27

    26. XM_011517609.2XP_011515911.1  centrosome and spindle pole-associated protein 1 isoform X24

    27. XM_011517611.3XP_011515913.1  centrosome and spindle pole-associated protein 1 isoform X28

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001077204.1: Suppressed sequence

      Description
      NM_001077204.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
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