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    CEP44 centrosomal protein 44 [ Homo sapiens (human) ]

    Gene ID: 80817, updated on 27-Nov-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, Nov 2024]
    Expression
    Ubiquitous expression in testis (RPKM 3.4), endometrium (RPKM 3.1) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CEP44 in Genome Data Viewer
    Location:
    4q34.1
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (174283706..174333381)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (177623203..177673220)
    RS_2024_09 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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    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)

    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 IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in centriole replication IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in centriole-centriole cohesion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    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_2024_08

    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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