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

Gene ID: 79848, updated on 7-Oct-2018

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; Vega:OTTHUMG00000164564
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; 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

Genomic context

See CSPP1 in Genome Data Viewer
Location:
8q13.1-q13.2
Exon count:
35
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 8 NC_000008.11 (67062417..67198003)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (67976588..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 uncharacterized LOC102724708 Neighboring gene ribosomal protein L17 pseudogene 31 Neighboring gene carboxypeptidase A6 Neighboring gene uncharacterized LOC105375886 Neighboring gene NACA pseudogene 10

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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat'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
positive regulation of cell division IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of cytokinesis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of cytokinesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
centrosome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
centrosome IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm IEA
Inferred from Electronic Annotation
more info
 
microtubule IEA
Inferred from Electronic Annotation
more info
 
spindle IDA
Inferred from Direct Assay
more info
PubMed 
spindle pole IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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)

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_001291339.1NP_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, OTTHUMP00000226981, ENST00000519668.1, OTTHUMT00000379257
  2. NM_001363131.1NP_001350060.1  centrosome and spindle pole-associated protein 1 isoform 3

    Status: REVIEWED

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

    Status: REVIEWED

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

    Status: REVIEWED

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

    Status: REVIEWED

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

    Status: REVIEWED

    Source sequence(s)
    AC087359, AC109335
  7. 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
    ENSP00000262210.5, OTTHUMP00000226978, ENST00000262210.9, OTTHUMT00000379254

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p12 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

  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

  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

  9. XM_017013854.2XP_016869343.1  centrosome and spindle pole-associated protein 1 isoform X20

  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

  15. XM_017013855.2XP_016869344.1  centrosome and spindle pole-associated protein 1 isoform X21

  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_024447280.1XP_024303048.1  centrosome and spindle pole-associated protein 1 isoform X17

  19. XM_024447278.1XP_024303046.1  centrosome and spindle pole-associated protein 1 isoform X13

  20. 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

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

  22. XM_011517608.2XP_011515910.1  centrosome and spindle pole-associated protein 1 isoform X14

  23. XM_017013851.2XP_016869340.1  centrosome and spindle pole-associated protein 1 isoform X15

  24. XM_017013853.2XP_016869342.1  centrosome and spindle pole-associated protein 1 isoform X18

  25. XM_017013856.2XP_016869345.1  centrosome and spindle pole-associated protein 1 isoform X23

  26. XM_024447283.1XP_024303051.1  centrosome and spindle pole-associated protein 1 isoform X25

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

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

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

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

  31. 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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