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

Gene ID: 79848, updated on 31-Oct-2022

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; AllianceGenome:HGNC:26193
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
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Genomic context

See CSPP1 in Genome Data Viewer
Location:
8q13.1-q13.2
Exon count:
37
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (67064368..67196614)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (67490834..67623074)
105.20220307 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 uncharacterized LOC124901956 Neighboring gene ADP ribosylation factor guanine nucleotide exchange factor 1 Neighboring gene nucleophosmin 1 pseudogene 44 Neighboring gene ARFGEF1 divergent transcript Neighboring gene Sharpr-MPRA regulatory region 12286 Neighboring gene CRISPRi-validated cis-regulatory element chr8.1934

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ22490, FLJ38886

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
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
located_in centriolar satellite IDA
Inferred from Direct Assay
more info
 
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)

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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.

Genomic

  1. NG_034100.1 RefSeqGene

    Range
    5025..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
    Consensus CDS
    CCDS94309.1
    UniProtKB/TrEMBL
    A0A6Q8PF96
    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
    Consensus CDS
    CCDS94308.1
    UniProtKB/TrEMBL
    A0A6Q8PHN8
    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
    Consensus CDS
    CCDS94310.1
    UniProtKB/TrEMBL
    A0A6Q8PGS3
    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
    Consensus CDS
    CCDS94301.1
    UniProtKB/TrEMBL
    A0A7I2PHE7
    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
    Consensus CDS
    CCDS94304.1
    UniProtKB/TrEMBL
    A0A7I2V5L8
    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
    Consensus CDS
    CCDS94307.1
    UniProtKB/TrEMBL
    A0A7I2V5W3
    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 Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

    Range
    67064368..67196614
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011517598.3XP_011515900.2  centrosome and spindle pole-associated protein 1 isoform X1

  2. XM_047422253.1XP_047278209.1  centrosome and spindle pole-associated protein 1 isoform X16

  3. XM_047422245.1XP_047278201.1  centrosome and spindle pole-associated protein 1 isoform X7

  4. XM_047422257.1XP_047278213.1  centrosome and spindle pole-associated protein 1 isoform X20

  5. XM_005251305.5XP_005251362.3  centrosome and spindle pole-associated protein 1 isoform X3

    UniProtKB/Swiss-Prot
    Q8TBC1
    Related
    ENSP00000502454.1, ENST00000674993.1
  6. XM_047422254.1XP_047278210.1  centrosome and spindle pole-associated protein 1 isoform X17

  7. XM_006716474.4XP_006716537.3  centrosome and spindle pole-associated protein 1 isoform X9

  8. XM_047422244.1XP_047278200.1  centrosome and spindle pole-associated protein 1 isoform X4

  9. XM_017013847.3XP_016869336.2  centrosome and spindle pole-associated protein 1 isoform X6

  10. XM_006716477.4XP_006716540.3  centrosome and spindle pole-associated protein 1 isoform X21

  11. XM_011517599.3XP_011515901.2  centrosome and spindle pole-associated protein 1 isoform X2

    UniProtKB/TrEMBL
    A0A7I2V4R5
    Related
    ENSP00000503878.1, ENST00000678542.1
  12. XM_047422249.1XP_047278205.1  centrosome and spindle pole-associated protein 1 isoform X12

  13. XM_047422246.1XP_047278202.1  centrosome and spindle pole-associated protein 1 isoform X8

    UniProtKB/TrEMBL
    A0A7I2V5N5
    Related
    ENSP00000504516.1, ENST00000677592.1
  14. XM_017013854.3XP_016869343.2  centrosome and spindle pole-associated protein 1 isoform X22

    UniProtKB/TrEMBL
    A0A7I2YQH9
    Related
    ENSP00000503690.1, ENST00000678318.1
  15. XM_047422260.1XP_047278216.1  centrosome and spindle pole-associated protein 1 isoform X25

  16. XM_011517601.3XP_011515903.2  centrosome and spindle pole-associated protein 1 isoform X5

  17. XM_047422256.1XP_047278212.1  centrosome and spindle pole-associated protein 1 isoform X19

    Related
    ENSP00000503297.1, ENST00000677009.1
  18. XM_047422252.1XP_047278208.1  centrosome and spindle pole-associated protein 1 isoform X15

  19. XM_017013849.3XP_016869338.2  centrosome and spindle pole-associated protein 1 isoform X10

  20. XM_047422255.1XP_047278211.1  centrosome and spindle pole-associated protein 1 isoform X18

    UniProtKB/TrEMBL
    A0A7I2V3Z9
    Related
    ENSP00000503711.1, ENST00000676471.1
  21. XM_047422259.1XP_047278215.1  centrosome and spindle pole-associated protein 1 isoform X24

    Related
    ENSP00000504522.1, ENST00000677619.1
  22. XM_047422261.1XP_047278217.1  centrosome and spindle pole-associated protein 1 isoform X26

    UniProtKB/TrEMBL
    A0A7I2V5J9
    Related
    ENSP00000504532.1, ENST00000676573.1
  23. XM_047422250.1XP_047278206.1  centrosome and spindle pole-associated protein 1 isoform X13

  24. XM_047422247.1XP_047278203.1  centrosome and spindle pole-associated protein 1 isoform X11

  25. XM_047422258.1XP_047278214.1  centrosome and spindle pole-associated protein 1 isoform X23

  26. XM_047422251.1XP_047278207.1  centrosome and spindle pole-associated protein 1 isoform X14

  27. XM_047422262.1XP_047278218.1  centrosome and spindle pole-associated protein 1 isoform X27

  28. XM_011517611.4XP_011515913.1  centrosome and spindle pole-associated protein 1 isoform X28

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060932.1 Alternate T2T-CHM13v2.0

    Range
    67490834..67623074
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

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.