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    CEP57L1 centrosomal protein 57 like 1 [ Homo sapiens (human) ]

    Gene ID: 285753, updated on 27-Nov-2024

    Summary

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    Official Symbol
    CEP57L1provided by HGNC
    Official Full Name
    centrosomal protein 57 like 1provided by HGNC
    Primary source
    HGNC:HGNC:21561
    See related
    Ensembl:ENSG00000183137 AllianceGenome:HGNC:21561
    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
    cep57R; C6orf182; bA487F23.2
    Summary
    Enables identical protein binding activity. Predicted to be located in cytoplasm and microtubule. Predicted to be active in centrosome. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in testis (RPKM 2.6), brain (RPKM 1.5) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CEP57L1 in Genome Data Viewer
    Location:
    6q21
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (109095163..109174418)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (110273270..110352465)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (109416366..109495621)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene armadillo repeat containing 2 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr6:109241738-109242648 Neighboring gene ARMC2 antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:109266564-109267120 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:109272427-109272928 Neighboring gene MPRA-validated peak6016 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17456 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24918 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24919 Neighboring gene sestrin 1 Neighboring gene Sharpr-MPRA regulatory region 5156 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:109367051-109367618 Neighboring gene RNA, U6 small nuclear 653, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24920 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17457 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24921 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:109422661-109423052 Neighboring gene coiled-coil domain containing 162, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:109515122-109515622 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr6:109562791-109563990 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:109572150-109572928 Neighboring gene uncharacterized LOC124901374 Neighboring gene patched domain containing 3 pseudogene 3

    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. Cep57 and Cep57L1 maintain centriole engagement in interphase to ensure centriole duplication cycle. Ito KK, et al. J Cell Biol, 2021 Mar 1. PMID 33492359, Free PMC Article
    2. Copy number variation in CEP57L1 predisposes to congenital absence of bilateral ACL and PCL ligaments. Liu Y, et al. Hum Genomics, 2015 Nov 11. PMID 26561035, Free PMC Article
    3. Genome-wide association study of hematological and biochemical traits in a Japanese population. Kamatani Y, et al. Nat Genet, 2010 Mar. PMID 20139978
    4. Systematic screening reveals a role for BRCA1 in the response to transcription-associated DNA damage. Hill SJ, et al. Genes Dev, 2014 Sep 1. PMID 25184681, Free PMC Article
    5. Disrupted in Schizophrenia 1 Interactome: evidence for the close connectivity of risk genes and a potential synaptic basis for schizophrenia. Camargo LM, et al. Mol Psychiatry, 2007 Jan. PMID 17043677

    See all (32) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Cep57 and Cep57L1 maintain centriole engagement in interphase to ensure centriole duplication cycle.
      Title: Cep57 and Cep57L1 maintain centriole engagement in interphase to ensure centriole duplication cycle.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Genome-wide association study of hematological and biochemical traits in a Japanese population.
    EBI GWAS Catalog
    Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array.
    EBI GWAS Catalog

    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

    • MGC21731, MGC70837

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables gamma-tubulin binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables microtubule binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in centrosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in microtubule IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    centrosomal protein CEP57L1
    Names
    centrosomal protein 57kDa-like 1
    centrosomal protein 57kDa-like protein 1
    centrosomal protein of 57 kDa-related protein
    cep57-related protein

    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_001083535.3 → NP_001077004.1  centrosomal protein CEP57L1 isoform 1

      See identical proteins and their annotated locations for NP_001077004.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes isoform 1. Variants 1, 2, 3, 5, and 6 all encode the same isoform (1).
      Source sequence(s)
      AL355305
      Consensus CDS
      CCDS5071.1
      UniProtKB/Swiss-Prot
      G5E992, Q8IYX8
      UniProtKB/TrEMBL
      G3V140
      Conserved Domains (2) summary
      pfam06657
      Location:311 → 384
      Cep57_MT_bd; Centrosome microtubule-binding domain of Cep57
      pfam14073
      Location:54 → 231
      Cep57_CLD; Centrosome localization domain of Cep57

    2. NM_001271852.3 → NP_001258781.1  centrosomal protein CEP57L1 isoform 1

      See identical proteins and their annotated locations for NP_001258781.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1, 2, 3, 5, and 6 all encode the same isoform (1).
      Source sequence(s)
      AL355305
      Consensus CDS
      CCDS5071.1
      UniProtKB/Swiss-Prot
      G5E992, Q8IYX8
      UniProtKB/TrEMBL
      G3V140
      Related
      ENSP00000427844.1, ENST00000517392.6
      Conserved Domains (2) summary
      pfam06657
      Location:311 → 384
      Cep57_MT_bd; Centrosome microtubule-binding domain of Cep57
      pfam14073
      Location:54 → 231
      Cep57_CLD; Centrosome localization domain of Cep57

    3. NM_001271853.3 → NP_001258782.1  centrosomal protein CEP57L1 isoform 2

      See identical proteins and their annotated locations for NP_001258782.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR and uses an alternate splice site in the 3' coding region, compared to variant 1. This results in a shorter protein (isoform 2), compared to isoform 1.
      Source sequence(s)
      AL355305
      Consensus CDS
      CCDS64491.1
      UniProtKB/TrEMBL
      G3V140
      Related
      ENSP00000357964.2, ENST00000368968.6
      Conserved Domains (2) summary
      pfam06657
      Location:311 → 384
      Cep57_MT_bd; Centrosome microtubule-binding domain of Cep57
      pfam14073
      Location:54 → 231
      Cep57_CLD; Centrosome localization domain of Cep57

    4. NM_001350652.2 → NP_001337581.1  centrosomal protein CEP57L1 isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5), as well as variants 1, 2, 3, and 6, encodes isoform 1.
      Source sequence(s)
      AL355305
      Consensus CDS
      CCDS5071.1
      UniProtKB/Swiss-Prot
      G5E992, Q8IYX8
      UniProtKB/TrEMBL
      G3V140
      Conserved Domains (2) summary
      pfam06657
      Location:311 → 384
      Cep57_MT_bd; Centrosome microtubule-binding domain of Cep57
      pfam14073
      Location:54 → 231
      Cep57_CLD; Centrosome localization domain of Cep57

    5. NM_001350653.2 → NP_001337582.1  centrosomal protein CEP57L1 isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (6), as well as variants 1, 2, 3, and 5, encodes isoform 1.
      Source sequence(s)
      AL355305
      Consensus CDS
      CCDS5071.1
      UniProtKB/Swiss-Prot
      G5E992, Q8IYX8
      UniProtKB/TrEMBL
      G3V140
      Conserved Domains (2) summary
      pfam06657
      Location:311 → 384
      Cep57_MT_bd; Centrosome microtubule-binding domain of Cep57
      pfam14073
      Location:54 → 231
      Cep57_CLD; Centrosome localization domain of Cep57

    6. NM_001350654.2 → NP_001337583.1  centrosomal protein CEP57L1 isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (7), as well as variants 8, 10, and 11, encodes isoform 3.
      Source sequence(s)
      AL355305
      UniProtKB/TrEMBL
      G3V140
      Conserved Domains (2) summary
      pfam06657
      Location:328 → 401
      Cep57_MT_bd; Centrosome microtubule-binding domain of Cep57
      pfam14073
      Location:54 → 231
      Cep57_CLD; Centrosome localization domain of Cep57

    7. NM_001350655.2 → NP_001337584.1  centrosomal protein CEP57L1 isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (8), as well as variants 7, 10, and 11, encodes isoform 3.
      Source sequence(s)
      AL355305
      UniProtKB/TrEMBL
      G3V140
      Conserved Domains (2) summary
      pfam06657
      Location:328 → 401
      Cep57_MT_bd; Centrosome microtubule-binding domain of Cep57
      pfam14073
      Location:54 → 231
      Cep57_CLD; Centrosome localization domain of Cep57

    8. NM_001350656.2 → NP_001337585.1  centrosomal protein CEP57L1 isoform 9

      Status: VALIDATED

      Source sequence(s)
      AL355305
      Consensus CDS
      CCDS87427.1
      UniProtKB/TrEMBL
      E5RFY4, G3V140
      Related
      ENSP00000357966.2, ENST00000368970.6
      Conserved Domains (2) summary
      pfam06657
      Location:328 → 401
      Cep57_MT_bd; Centrosome microtubule-binding domain of Cep57
      pfam14073
      Location:54 → 231
      Cep57_CLD; Centrosome localization domain of Cep57

    9. NM_001350657.2 → NP_001337586.1  centrosomal protein CEP57L1 isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (10), as well as variants 7, 8, and 11, encodes isoform 3.
      Source sequence(s)
      AL355305
      UniProtKB/TrEMBL
      G3V140
      Conserved Domains (2) summary
      pfam06657
      Location:328 → 401
      Cep57_MT_bd; Centrosome microtubule-binding domain of Cep57
      pfam14073
      Location:54 → 231
      Cep57_CLD; Centrosome localization domain of Cep57

    10. NM_001350658.2 → NP_001337587.1  centrosomal protein CEP57L1 isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (11) represents the longest transcript and encodes the longest isoform (3). Variants 7, 8, 10, and 11 all encode the same isoform (3).
      Source sequence(s)
      AL355305
      UniProtKB/TrEMBL
      G3V140
      Conserved Domains (2) summary
      pfam06657
      Location:328 → 401
      Cep57_MT_bd; Centrosome microtubule-binding domain of Cep57
      pfam14073
      Location:54 → 231
      Cep57_CLD; Centrosome localization domain of Cep57

    11. NM_001350659.2 → NP_001337588.1  centrosomal protein CEP57L1 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AL355305
      UniProtKB/TrEMBL
      G3V140
      Conserved Domains (2) summary
      pfam06657
      Location:312 → 385
      Cep57_MT_bd; Centrosome microtubule-binding domain of Cep57
      pfam14073
      Location:54 → 215
      Cep57_CLD; Centrosome localization domain of Cep57

    12. NM_001350660.2 → NP_001337589.1  centrosomal protein CEP57L1 isoform 5

      Status: VALIDATED

      Description
      Transcript Variant: This variant (13), as well as variant 14, encodes isoform 5.
      Source sequence(s)
      AL355305
      UniProtKB/TrEMBL
      Q5T6A0
      Conserved Domains (2) summary
      pfam06657
      Location:190 → 263
      Cep57_MT_bd; Centrosome microtubule-binding domain of Cep57
      pfam14073
      Location:1 → 93
      Cep57_CLD; Centrosome localization domain of Cep57

    13. NM_001350661.2 → NP_001337590.1  centrosomal protein CEP57L1 isoform 5

      Status: VALIDATED

      Description
      Transcript Variant: This variant (14), as well as variant 13, encodes isoform 5.
      Source sequence(s)
      AL355305
      UniProtKB/TrEMBL
      Q5T6A0
      Conserved Domains (2) summary
      pfam06657
      Location:190 → 263
      Cep57_MT_bd; Centrosome microtubule-binding domain of Cep57
      pfam14073
      Location:1 → 93
      Cep57_CLD; Centrosome localization domain of Cep57

    14. NM_001350662.2 → NP_001337591.1  centrosomal protein CEP57L1 isoform 6

      Status: VALIDATED

      Description
      Transcript Variant: This variant (15), as well as variants 16 and 17, encodes isoform 6.
      Source sequence(s)
      AL355305
      UniProtKB/TrEMBL
      Q5T6A0
      Conserved Domains (2) summary
      pfam06657
      Location:173 → 246
      Cep57_MT_bd; Centrosome microtubule-binding domain of Cep57
      pfam14073
      Location:1 → 93
      Cep57_CLD; Centrosome localization domain of Cep57

    15. NM_001350663.2 → NP_001337592.1  centrosomal protein CEP57L1 isoform 6

      Status: VALIDATED

      Description
      Transcript Variant: This variant (16), as well as variants 15 and 17, encodes isoform 6.
      Source sequence(s)
      AL355305
      UniProtKB/TrEMBL
      Q5T6A0
      Conserved Domains (2) summary
      pfam06657
      Location:173 → 246
      Cep57_MT_bd; Centrosome microtubule-binding domain of Cep57
      pfam14073
      Location:1 → 93
      Cep57_CLD; Centrosome localization domain of Cep57

    16. NM_001350664.2 → NP_001337593.1  centrosomal protein CEP57L1 isoform 6

      Status: VALIDATED

      Description
      Transcript Variant: This variant (17), as well as variants 15 and 16, encodes isoform 6.
      Source sequence(s)
      AL355305
      UniProtKB/TrEMBL
      Q5T6A0
      Conserved Domains (2) summary
      pfam06657
      Location:173 → 246
      Cep57_MT_bd; Centrosome microtubule-binding domain of Cep57
      pfam14073
      Location:1 → 93
      Cep57_CLD; Centrosome localization domain of Cep57

    17. NM_001350665.2 → NP_001337594.1  centrosomal protein CEP57L1 isoform 7

      Status: VALIDATED

      Source sequence(s)
      AL355305
      Consensus CDS
      CCDS87428.1
      UniProtKB/TrEMBL
      E5RG21, Q6P2R3
      Related
      ENSP00000430911.1, ENST00000519095.5
      Conserved Domains (1) summary
      pfam14073
      Location:54 → 231
      Cep57_CLD; Centrosome localization domain of Cep57

    18. NM_001350666.2 → NP_001337595.1  centrosomal protein CEP57L1 isoform 8

      Status: VALIDATED

      Source sequence(s)
      AL355305
      Consensus CDS
      CCDS87429.1
      UniProtKB/TrEMBL
      E5RG21, E5RJH1
      Related
      ENSP00000430558.1, ENST00000521277.5
      Conserved Domains (1) summary
      pfam14073
      Location:54 → 215
      Cep57_CLD; Centrosome localization domain of Cep57

    19. NM_173830.6 → NP_776191.1  centrosomal protein CEP57L1 isoform 1

      See identical proteins and their annotated locations for NP_776191.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2, 3, 5, and 6 all encode the same isoform (1).
      Source sequence(s)
      AL355305
      Consensus CDS
      CCDS5071.1
      UniProtKB/Swiss-Prot
      G5E992, Q8IYX8
      UniProtKB/TrEMBL
      G3V140
      Related
      ENSP00000352841.3, ENST00000359793.7
      Conserved Domains (2) summary
      pfam06657
      Location:311 → 384
      Cep57_MT_bd; Centrosome microtubule-binding domain of Cep57
      pfam14073
      Location:54 → 231
      Cep57_CLD; Centrosome localization domain of Cep57

    RNA

    1. NR_146888.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL355305

    2. NR_146889.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL355305

    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_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      109095163..109174418
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      110273270..110352465
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8IYX8.1 GenPept UniProtKB/Swiss-Prot:Q8IYX8

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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