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

Gene ID: 285753, updated on 2-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
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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 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 (31) 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)

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

  • 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 molecular_function ND
No biological Data available
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in biological_process ND
No biological Data available
more info
  
Component Evidence Code Pubs
is_active_in cellular_component ND
No biological Data available
more info
  
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

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