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

Gene ID: 387119, updated on 2-Nov-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
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Genomic context

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See CEP85L in Genome Data Viewer
Location:
6q22.31
Exon count:
21
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (118460772..118710089, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (119645874..119895829, complement)
RS_2024_09 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 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. Further characterization of CEP85L-associated lissencephaly type 10: Report of a three-generation family and review of the literature. Leduc-Pessah H, et al. Am J Med Genet A, 2023 Dec. PMID 37621218
  2. Pathogenic Variants in CEP85L Cause Sporadic and Familial Posterior Predominant Lissencephaly. Tsai MH, et al. Neuron, 2020 Apr 22. PMID 32097630, Free PMC Article
  3. LRP8 (rs5177) and CEP85L (rs11756438) are contributed to schizophrenia susceptibility in Iranian population. Poursaei E, et al. Psychiatr Genet, 2020 Dec. PMID 33079740
  4. 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
  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 (34) 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

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
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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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_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
    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

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