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CEP44 centrosomal protein 44 [ Homo sapiens (human) ]

Gene ID: 80817, updated on 5-Mar-2024

Summary

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Official Symbol
CEP44provided by HGNC
Official Full Name
centrosomal protein 44provided by HGNC
Primary source
HGNC:HGNC:29356
See related
Ensembl:ENSG00000164118 MIM:620217; AllianceGenome:HGNC:29356
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
PS1TP3; KIAA1712
Summary
Enables microtubule binding activity. Involved in centriole replication and centriole-centriole cohesion. Located in centriole; centrosome; and spindle pole. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in testis (RPKM 3.4), endometrium (RPKM 3.1) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
4q34.1
Exon count:
14
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (174283706..174333381)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (177623203..177673220)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (175205062..175254532)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 2268 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22161 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr4:175135627-175136287 Neighboring gene F-box protein 8 Neighboring gene ReSE screen-validated silencer GRCh37_chr4:175205027-175205294 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22163 Neighboring gene uncharacterized LOC105377547 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22164 Neighboring gene NANOG hESC enhancer GRCh37_chr4:175296498-175297056 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr4:175303725-175304372 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr4:175304373-175305019 Neighboring gene microRNA 4276

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. Cep44 functions in centrosome cohesion by stabilizing rootletin. Hossain D, et al. J Cell Sci, 2020 Feb 21. PMID 31974111, Free PMC Article
  2. CEP44 ensures the formation of bona fide centriole wall, a requirement for the centriole-to-centrosome conversion. Atorino ES, et al. Nat Commun, 2020 Feb 14. PMID 32060285, Free PMC Article
  3. DNA Damage Regulates Translation through β-TRCP Targeting of CReP. Loveless TB, et al. PLoS Genet, 2015 Jun. PMID 26091241, Free PMC Article
  4. Conserved Mitotic Phosphorylation of a Proteasome Subunit Regulates Cell Proliferation. Duan J, et al. Cells, 2021 Nov 8. PMID 34831298, Free PMC Article
  5. Identification of Human Neuronal Protein Complexes Reveals Biochemical Activities and Convergent Mechanisms of Action in Autism Spectrum Disorders. Li J, et al. Cell Syst, 2015 Nov 25. PMID 26949739, Free PMC Article

See all (35) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Cep44 functions in centrosome cohesion by stabilizing rootletin.
    Title: Cep44 functions in centrosome cohesion by stabilizing rootletin.
  2. CEP44 was identified as a luminal centriolar protein that binds to A-MTs and the inner centriole protein POC1B.
    Title: CEP44 ensures the formation of bona fide centriole wall, a requirement for the centriole-to-centrosome conversion.
Submit: New GeneRIF Correction

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

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

  • KIAA1712

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables microtubule binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in centriole replication IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in centriole-centriole cohesion IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in centrosome cycle IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
located_in centriole IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in centrosome IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in centrosome IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
  
located_in midbody TAS
Traceable Author Statement
more info
 PubMed 
is_active_in spindle pole IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in spindle pole IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
centrosomal protein of 44 kDa
Names
HBV PreS1-transactivated protein 3
centrosomal protein 44kDa

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_001040157.3 → NP_001035247.1  centrosomal protein of 44 kDa isoform a

    See identical proteins and their annotated locations for NP_001035247.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript but encodes the shorter isoform (a).
    Source sequence(s)
    AC097653, AY426674, DA347369
    Consensus CDS
    CCDS34106.1
    UniProtKB/Swiss-Prot
    A8K8W9, A8MW11, B3KT53, D3DP42, Q8IXZ4, Q9C0F1
    Related
    ENSP00000423153.1, ENST00000503780.6
    Conserved Domains (2) summary
    pfam15007
    Location:5 → 131
    CEP44; Centrosomal spindle body, CEP44
    pfam15688
    Location:282 → 356
    NRIP1_repr_2; Nuclear receptor-interacting protein 1 repression 2

  2. NM_001145314.2 → NP_001138786.1  centrosomal protein of 44 kDa isoform b

    See identical proteins and their annotated locations for NP_001138786.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses an alternate 3' exon, compared to variant 1. The resulting protein (isoform b) has a longer and distinct C-terminus compared to isoform a.
    Source sequence(s)
    AC116616, AK094961, AL699124
    Consensus CDS
    CCDS47163.1
    UniProtKB/Swiss-Prot
    Q9C0F1
    Related
    ENSP00000389427.2, ENST00000457424.6
    Conserved Domains (2) summary
    pfam15007
    Location:5 → 131
    CEP44; Centrosomal spindle body, CEP44
    pfam15688
    Location:282 → 356
    NRIP1_repr_2; Nuclear receptor-interacting protein 1 repression 2

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_000004.12 Reference GRCh38.p14 Primary Assembly

    Range
    174283706..174333381
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024454229.2 → XP_024309997.1  centrosomal protein of 44 kDa isoform X1

    Conserved Domains (2) summary
    pfam15007
    Location:5 → 131
    CEP44; Centrosomal spindle body, CEP44
    pfam15688
    Location:282 → 356
    NRIP1_repr_2; Nuclear receptor-interacting protein 1 repression 2

  2. XM_047416201.1 → XP_047272157.1  centrosomal protein of 44 kDa isoform X2

    UniProtKB/Swiss-Prot
    A8K8W9, A8MW11, B3KT53, D3DP42, Q8IXZ4, Q9C0F1

  3. XM_047416204.1 → XP_047272160.1  centrosomal protein of 44 kDa isoform X3

  4. XM_011532285.3 → XP_011530587.1  centrosomal protein of 44 kDa isoform X1

    See identical proteins and their annotated locations for XP_011530587.1

    UniProtKB/Swiss-Prot
    Q9C0F1
    Conserved Domains (2) summary
    pfam15007
    Location:5 → 131
    CEP44; Centrosomal spindle body, CEP44
    pfam15688
    Location:282 → 356
    NRIP1_repr_2; Nuclear receptor-interacting protein 1 repression 2

  5. XM_024454231.2 → XP_024309999.1  centrosomal protein of 44 kDa isoform X1

    Conserved Domains (2) summary
    pfam15007
    Location:5 → 131
    CEP44; Centrosomal spindle body, CEP44
    pfam15688
    Location:282 → 356
    NRIP1_repr_2; Nuclear receptor-interacting protein 1 repression 2

  6. XM_011532286.3 → XP_011530588.1  centrosomal protein of 44 kDa isoform X1

    See identical proteins and their annotated locations for XP_011530588.1

    UniProtKB/Swiss-Prot
    Q9C0F1
    Conserved Domains (2) summary
    pfam15007
    Location:5 → 131
    CEP44; Centrosomal spindle body, CEP44
    pfam15688
    Location:282 → 356
    NRIP1_repr_2; Nuclear receptor-interacting protein 1 repression 2

  7. XM_011532287.3 → XP_011530589.1  centrosomal protein of 44 kDa isoform X1

    See identical proteins and their annotated locations for XP_011530589.1

    UniProtKB/Swiss-Prot
    Q9C0F1
    Related
    ENSP00000408221.1, ENST00000426172.3
    Conserved Domains (2) summary
    pfam15007
    Location:5 → 131
    CEP44; Centrosomal spindle body, CEP44
    pfam15688
    Location:282 → 356
    NRIP1_repr_2; Nuclear receptor-interacting protein 1 repression 2

  8. XM_017008654.2 → XP_016864143.1  centrosomal protein of 44 kDa isoform X2

    UniProtKB/Swiss-Prot
    A8K8W9, A8MW11, B3KT53, D3DP42, Q8IXZ4, Q9C0F1
    Conserved Domains (2) summary
    pfam15007
    Location:5 → 131
    CEP44; Centrosomal spindle body, CEP44
    pfam15688
    Location:282 → 356
    NRIP1_repr_2; Nuclear receptor-interacting protein 1 repression 2

  9. XM_017008657.2 → XP_016864146.1  centrosomal protein of 44 kDa isoform X3

    Conserved Domains (2) summary
    pfam15007
    Location:5 → 131
    CEP44; Centrosomal spindle body, CEP44
    pfam15688
    Location:282 → 356
    NRIP1_repr_2; Nuclear receptor-interacting protein 1 repression 2

  10. XM_024454232.2 → XP_024310000.1  centrosomal protein of 44 kDa isoform X2

    UniProtKB/Swiss-Prot
    A8K8W9, A8MW11, B3KT53, D3DP42, Q8IXZ4, Q9C0F1
    Related
    ENSP00000380009.3, ENST00000396791.7
    Conserved Domains (2) summary
    pfam15007
    Location:5 → 131
    CEP44; Centrosomal spindle body, CEP44
    pfam15688
    Location:282 → 356
    NRIP1_repr_2; Nuclear receptor-interacting protein 1 repression 2

  11. XM_024454234.2 → XP_024310002.1  centrosomal protein of 44 kDa isoform X3

    Conserved Domains (2) summary
    pfam15007
    Location:5 → 131
    CEP44; Centrosomal spindle body, CEP44
    pfam15688
    Location:282 → 356
    NRIP1_repr_2; Nuclear receptor-interacting protein 1 repression 2

  12. XM_024454233.2 → XP_024310001.1  centrosomal protein of 44 kDa isoform X2

    UniProtKB/Swiss-Prot
    A8K8W9, A8MW11, B3KT53, D3DP42, Q8IXZ4, Q9C0F1
    Conserved Domains (2) summary
    pfam15007
    Location:5 → 131
    CEP44; Centrosomal spindle body, CEP44
    pfam15688
    Location:282 → 356
    NRIP1_repr_2; Nuclear receptor-interacting protein 1 repression 2

  13. XM_047416206.1 → XP_047272162.1  centrosomal protein of 44 kDa isoform X3

  14. XM_017008656.2 → XP_016864145.1  centrosomal protein of 44 kDa isoform X3

    Conserved Domains (2) summary
    pfam15007
    Location:5 → 131
    CEP44; Centrosomal spindle body, CEP44
    pfam15688
    Location:282 → 356
    NRIP1_repr_2; Nuclear receptor-interacting protein 1 repression 2

  15. XM_017008655.2 → XP_016864144.1  centrosomal protein of 44 kDa isoform X2

    UniProtKB/Swiss-Prot
    A8K8W9, A8MW11, B3KT53, D3DP42, Q8IXZ4, Q9C0F1
    Related
    ENSP00000296519.4, ENST00000296519.6
    Conserved Domains (2) summary
    pfam15007
    Location:5 → 131
    CEP44; Centrosomal spindle body, CEP44
    pfam15688
    Location:282 → 356
    NRIP1_repr_2; Nuclear receptor-interacting protein 1 repression 2

  16. XM_047416205.1 → XP_047272161.1  centrosomal protein of 44 kDa isoform X3

  17. XM_047416202.1 → XP_047272158.1  centrosomal protein of 44 kDa isoform X2

    UniProtKB/Swiss-Prot
    A8K8W9, A8MW11, B3KT53, D3DP42, Q8IXZ4, Q9C0F1

  18. XM_024454230.2 → XP_024309998.1  centrosomal protein of 44 kDa isoform X1

    Conserved Domains (2) summary
    pfam15007
    Location:5 → 131
    CEP44; Centrosomal spindle body, CEP44
    pfam15688
    Location:282 → 356
    NRIP1_repr_2; Nuclear receptor-interacting protein 1 repression 2

  19. XM_024454235.2 → XP_024310003.1  centrosomal protein of 44 kDa isoform X3

    Conserved Domains (2) summary
    pfam15007
    Location:5 → 131
    CEP44; Centrosomal spindle body, CEP44
    pfam15688
    Location:282 → 356
    NRIP1_repr_2; Nuclear receptor-interacting protein 1 repression 2

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060928.1 Alternate T2T-CHM13v2.0

    Range
    177623203..177673220
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054350909.1 → XP_054206884.1  centrosomal protein of 44 kDa isoform X2

    UniProtKB/Swiss-Prot
    A8K8W9, A8MW11, B3KT53, D3DP42, Q8IXZ4, Q9C0F1

  2. XM_054350902.1 → XP_054206877.1  centrosomal protein of 44 kDa isoform X1

  3. XM_054350903.1 → XP_054206878.1  centrosomal protein of 44 kDa isoform X1

  4. XM_054350908.1 → XP_054206883.1  centrosomal protein of 44 kDa isoform X2

    UniProtKB/Swiss-Prot
    A8K8W9, A8MW11, B3KT53, D3DP42, Q8IXZ4, Q9C0F1

  5. XM_054350915.1 → XP_054206890.1  centrosomal protein of 44 kDa isoform X3

  6. XM_054350916.1 → XP_054206891.1  centrosomal protein of 44 kDa isoform X3

  7. XM_054350906.1 → XP_054206881.1  centrosomal protein of 44 kDa isoform X1

  8. XM_054350901.1 → XP_054206876.1  centrosomal protein of 44 kDa isoform X1

  9. XM_054350905.1 → XP_054206880.1  centrosomal protein of 44 kDa isoform X1

  10. XM_054350907.1 → XP_054206882.1  centrosomal protein of 44 kDa isoform X2

    UniProtKB/Swiss-Prot
    A8K8W9, A8MW11, B3KT53, D3DP42, Q8IXZ4, Q9C0F1

  11. XM_054350913.1 → XP_054206888.1  centrosomal protein of 44 kDa isoform X3

  12. XM_054350912.1 → XP_054206887.1  centrosomal protein of 44 kDa isoform X2

    UniProtKB/Swiss-Prot
    A8K8W9, A8MW11, B3KT53, D3DP42, Q8IXZ4, Q9C0F1

  13. XM_054350919.1 → XP_054206894.1  centrosomal protein of 44 kDa isoform X3

  14. XM_054350914.1 → XP_054206889.1  centrosomal protein of 44 kDa isoform X3

  15. XM_054350911.1 → XP_054206886.1  centrosomal protein of 44 kDa isoform X2

    UniProtKB/Swiss-Prot
    A8K8W9, A8MW11, B3KT53, D3DP42, Q8IXZ4, Q9C0F1

  16. XM_054350918.1 → XP_054206893.1  centrosomal protein of 44 kDa isoform X3

  17. XM_054350910.1 → XP_054206885.1  centrosomal protein of 44 kDa isoform X2

    UniProtKB/Swiss-Prot
    A8K8W9, A8MW11, B3KT53, D3DP42, Q8IXZ4, Q9C0F1

  18. XM_054350904.1 → XP_054206879.1  centrosomal protein of 44 kDa isoform X1

  19. XM_054350917.1 → XP_054206892.1  centrosomal protein of 44 kDa isoform X3

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_030633.1: Suppressed sequence

    Description
    NM_030633.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9C0F1.2 GenPept UniProtKB/Swiss-Prot:Q9C0F1

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