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    CEP85L centrosomal protein 85 like [ Homo sapiens (human) ]

    Gene ID: 387119, updated on 5-Mar-2024

    Summary

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    Official Symbol
    CEP85Lprovided by HGNC
    Official Full Name
    centrosomal protein 85 likeprovided by HGNC
    Primary source
    HGNC:HGNC:21638
    See related
    Ensembl:ENSG00000111860 MIM:618865; AllianceGenome:HGNC:21638
    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
    LIS10; C6orf204; NY-BR-15; bA57K17.2
    Summary
    The protein encoded by this gene was identified as a breast cancer antigen. Nothing more is known of its function at this time. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2010]
    Expression
    Broad expression in testis (RPKM 7.6), lymph node (RPKM 5.2) and 23 other tissues See more
    Orthologs
    mouse all
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    Try the new Transcript table

    Genomic context

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    Location:
    6q22.31
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (118460772..118710089, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (119645874..119895829, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (118781935..119031252, complement)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene solute carrier family 35 member F1 Neighboring gene uncharacterized LOC124901387 Neighboring gene uncharacterized LOC105377971 Neighboring gene ATP-dependent RNA helicase DDX24-like Neighboring gene VISTA enhancer hs2188 Neighboring gene uncharacterized LOC107986524 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr6:118894930-118896129 Neighboring gene bromodomain containing 7 pseudogene 3 Neighboring gene MPRA-validated peak6062 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:118951260-118951854 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:118951855-118952449 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17501 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17502 Neighboring gene uncharacterized LOC124901388 Neighboring gene SSX family pseudogene 10 Neighboring gene phospholamban Neighboring gene Sharpr-MPRA regulatory region 6198 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17503 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25013 Neighboring gene selenoprotein K pseudogene 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25014 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17504 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25015 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17505 Neighboring gene minichromosome maintenance 9 homologous recombination repair factor Neighboring gene anti-silencing function 1A histone chaperone

    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. Pathogenic Variants in CEP85L Cause Sporadic and Familial Posterior Predominant Lissencephaly. Tsai MH, et al. Neuron, 2020 Apr 22. PMID 32097630, Free PMC Article
    2. LRP8 (rs5177) and CEP85L (rs11756438) are contributed to schizophrenia susceptibility in Iranian population. Poursaei E, et al. Psychiatr Genet, 2020 Dec. PMID 33079740
    3. Posterior Neocortex-Specific Regulation of Neuronal Migration by CEP85L Identifies Maternal Centriole-Dependent Activation of CDK5. Kodani A, et al. Neuron, 2020 Apr 22. PMID 32097629, Free PMC Article
    4. A genome-wide association study identifies a novel susceptibility locus for renal cell carcinoma on 12p11.23. Wu X, et al. Hum Mol Genet, 2012 Jan 15. PMID 22010048, Free PMC Article
    5. Systematic screen for tyrosine kinase rearrangements identifies a novel C6orf204-PDGFRB fusion in a patient with recurrent T-ALL and an associated myeloproliferative neoplasm. Chmielecki J, et al. Genes Chromosomes Cancer, 2012 Jan. PMID 21938754

    See all (32) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Further characterization of CEP85L-associated lissencephaly type 10: Report of a three-generation family and review of the literature.
      Title: Further characterization of CEP85L-associated lissencephaly type 10: Report of a three-generation family and review of the literature.
    2. LRP8 (rs5177) and CEP85L (rs11756438) are contributed to schizophrenia susceptibility in Iranian population.
      Title: LRP8 (rs5177) and CEP85L (rs11756438) are contributed to schizophrenia susceptibility in Iranian population.
    3. Pathogenic Variants in CEP85L Cause Sporadic and Familial Posterior Predominant Lissencephaly.
      Title: Pathogenic Variants in CEP85L Cause Sporadic and Familial Posterior Predominant Lissencephaly.
    4. Posterior Neocortex-Specific Regulation of Neuronal Migration by CEP85L Identifies Maternal Centriole-Dependent Activation of CDK5.
      Title: Posterior Neocortex-Specific Regulation of Neuronal Migration by CEP85L Identifies Maternal Centriole-Dependent Activation of CDK5.
    5. Detection of a novel imatinib-sensitive C6orf204-PDGFRB fusion in a patient with precursor T lymphoblastic lymphoma (T-ALL) and an associated myeloproliferative neoplasm with eosinophilia.
      Title: Systematic screen for tyrosine kinase rearrangements identifies a novel C6orf204-PDGFRB fusion in a patient with recurrent T-ALL and an associated myeloproliferative neoplasm.
    6. Observational study, meta-analysis, and genome-wide association study of gene-disease association. (HuGE Navigator)
      Title: Genome-wide association analysis identifies multiple loci related to resting heart rate.
    7. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    8. Meta-analysis and genome-wide association study of gene-disease association. (HuGE Navigator)
      Title: Genetic variants associated with cardiac structure and function: a meta-analysis and replication of genome-wide association data.
    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

    Associated conditions

    Description Tests
    Lissencephaly 10
    MedGen: C5394354 OMIM: 618873 GeneReviews: Not available
    		Compare labs

    EBI GWAS Catalog

    Description
    A genome-wide association study identifies a novel susceptibility locus for renal cell carcinoma on 12p11.23.
    EBI GWAS Catalog
    Common variants at ten loci influence QT interval duration in the QTGEN Study.
    EBI GWAS Catalog
    Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.
    EBI GWAS Catalog
    Genome- and phenome-wide analyses of cardiac conduction identifies markers of arrhythmia risk.
    EBI GWAS Catalog
    Impact of ancestry and common genetic variants on QT interval in African Americans.
    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

    • MGC131785

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in neuron migration IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in centrosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in centrosome TAS
    Traceable Author Statement
    more info
    		 PubMed 
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in pericentriolar material IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    centrosomal protein of 85 kDa-like
    Names
    centrosomal protein 85kDa-like
    serologically defined breast cancer antigen NY-BR-15

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    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_021248.1 RefSeqGene

      Range
      63485..254304
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001042475.3 → NP_001035940.1  centrosomal protein of 85 kDa-like isoform a

      See identical proteins and their annotated locations for NP_001035940.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript.
      Source sequence(s)
      AF308284, AL589993, BC045657, BC048977, BC064835
      Consensus CDS
      CCDS43498.1
      UniProtKB/Swiss-Prot
      A1A4E1, A2A3P2, A2IDE5, F8W6J2, G3V0H3, Q2TAM2, Q5SZL2, Q5T323, Q7Z5K7, Q9H289
      Related
      ENSP00000357477.3, ENST00000368491.8
      Conserved Domains (1) summary
      cl25732
      Location:443 → 700
      SMC_N; RecF/RecN/SMC N terminal domain

    2. NM_001178035.2 → NP_001171506.1  centrosomal protein of 85 kDa-like isoform c

      See identical proteins and their annotated locations for NP_001171506.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (c) has a longer and distinct N-terminus compared to isoform a.
      Source sequence(s)
      AF308284, AL359634, AL589993, BC045657, BC064835
      Consensus CDS
      CCDS55052.1
      UniProtKB/Swiss-Prot
      Q5SZL2
      Related
      ENSP00000357474.5, ENST00000368488.9
      Conserved Domains (2) summary
      pfam11544
      Location:615 → 675
      Spc42p; Spindle pole body component Spc42p
      cl12013
      Location:490 → 607
      BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature

    3. NM_206921.3 → NP_996804.2  centrosomal protein of 85 kDa-like isoform b

      See identical proteins and their annotated locations for NP_996804.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 3' UTR and coding sequence compared to variant 1. The resulting isoform (b) has a shorter and distinct C-terminus compared to isoform a.
      Source sequence(s)
      BC048977, BC110835, Z99496
      Consensus CDS
      CCDS5119.2
      UniProtKB/Swiss-Prot
      Q5SZL2
      UniProtKB/TrEMBL
      Q3ZCQ5
      Related
      ENSP00000393317.2, ENST00000419517.2

    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_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      118460772..118710089 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011535811.2 → XP_011534113.1  centrosomal protein of 85 kDa-like isoform X4

      See identical proteins and their annotated locations for XP_011534113.1

      Conserved Domains (1) summary
      pfam11544
      Location:510 → 570
      Spc42p; Spindle pole body component Spc42p

    2. XM_011535810.3 → XP_011534112.1  centrosomal protein of 85 kDa-like isoform X2

      Conserved Domains (2) summary
      pfam11544
      Location:555 → 615
      Spc42p; Spindle pole body component Spc42p
      cl12013
      Location:430 → 547
      BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature

    3. XM_017010846.2 → XP_016866335.1  centrosomal protein of 85 kDa-like isoform X1

      UniProtKB/Swiss-Prot
      Q5SZL2
      Conserved Domains (2) summary
      pfam11544
      Location:615 → 675
      Spc42p; Spindle pole body component Spc42p
      cl12013
      Location:490 → 607
      BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature

    4. XM_047418759.1 → XP_047274715.1  centrosomal protein of 85 kDa-like isoform X1

    5. XM_047418760.1 → XP_047274716.1  centrosomal protein of 85 kDa-like isoform X1

    6. XM_047418758.1 → XP_047274714.1  centrosomal protein of 85 kDa-like isoform X1

    7. XM_005266971.2 → XP_005267028.1  centrosomal protein of 85 kDa-like isoform X4

      See identical proteins and their annotated locations for XP_005267028.1

      Conserved Domains (1) summary
      pfam11544
      Location:510 → 570
      Spc42p; Spindle pole body component Spc42p

    8. XM_047418761.1 → XP_047274717.1  centrosomal protein of 85 kDa-like isoform X3

    9. XM_005266970.2 → XP_005267027.1  centrosomal protein of 85 kDa-like isoform X4

      See identical proteins and their annotated locations for XP_005267027.1

      Conserved Domains (1) summary
      pfam11544
      Location:510 → 570
      Spc42p; Spindle pole body component Spc42p

    10. XM_047418762.1 → XP_047274718.1  centrosomal protein of 85 kDa-like isoform X5

    11. XM_005266972.5 → XP_005267029.1  centrosomal protein of 85 kDa-like isoform X5

      See identical proteins and their annotated locations for XP_005267029.1

      Conserved Domains (1) summary
      COG1196
      Location:81 → 338
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      119645874..119895829 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054355402.1 → XP_054211377.1  centrosomal protein of 85 kDa-like isoform X4

    2. XM_054355399.1 → XP_054211374.1  centrosomal protein of 85 kDa-like isoform X2

    3. XM_054355394.1 → XP_054211369.1  centrosomal protein of 85 kDa-like isoform X1

    4. XM_054355396.1 → XP_054211371.1  centrosomal protein of 85 kDa-like isoform X1

    5. XM_054355397.1 → XP_054211372.1  centrosomal protein of 85 kDa-like isoform X1

    6. XM_054355395.1 → XP_054211370.1  centrosomal protein of 85 kDa-like isoform X1

    7. XM_054355398.1 → XP_054211373.1  centrosomal protein of 85 kDa-like isoform X6

    8. XM_054355403.1 → XP_054211378.1  centrosomal protein of 85 kDa-like isoform X4

    9. XM_054355400.1 → XP_054211375.1  centrosomal protein of 85 kDa-like isoform X3

    10. XM_054355401.1 → XP_054211376.1  centrosomal protein of 85 kDa-like isoform X4

    11. XM_054355405.1 → XP_054211380.1  centrosomal protein of 85 kDa-like isoform X5

    12. XM_054355404.1 → XP_054211379.1  centrosomal protein of 85 kDa-like isoform X5

    RNA

    1. XR_008487331.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5SZL2.1 GenPept UniProtKB/Swiss-Prot:Q5SZL2

    Gene LinkOut

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

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