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

Gene ID: 387119, updated on 25-Nov-2025

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Gene Sequences (FASTA)

Transcript sequences (FASTA)

Protein sequences(FASTA)

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Summary

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Official Symbol: CEP85Lprovided byHGNC
Official Full Name: centrosomal protein 85Lprovided byHGNC
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 tissuesSee more
Orthologs: all
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Genomic context

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See CEP85L inGenome Data Viewer

Location:: 6q22.31

Exon count:: 21

Annotation release	Status	Assembly	Chr	Location
RS_2025_08	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (118460772..118710089, complement)
RS_2025_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_000006.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go toreference sequence details

Genomic Sequence:

Go to nucleotide:Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject:PRJNA270632
Publication:PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
Pathogenic Variants in CEP85L Cause Sporadic and Familial Posterior Predominant Lissencephaly.
Title: Pathogenic Variants in CEP85L Cause Sporadic and Familial Posterior Predominant Lissencephaly.
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.
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.
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.
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.
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.

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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:C5394354OMIM: 618873GeneReviews:Not available	not available

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D12S1288 (e-PCR)
- UniSTS:38916

D12S1940 (e-PCR)
- UniSTS:14873

D6S1147E (e-PCR)
- UniSTS:151090

SHGC-107437 (e-PCR)
- UniSTS:170338

D3S2934E (e-PCR)
- UniSTS:150918

SHGC-78085 (e-PCR)
- UniSTS:102043

RH93170 (e-PCR)
- UniSTS:89002

NoName (e-PCR)
- UniSTS:487341

NoName (e-PCR)
- UniSTS:495277

D6S1145E (e-PCR)
- UniSTS:56543

RH120021 (e-PCR)
- UniSTS:133345

SHGC-77838 (e-PCR)
- UniSTS:95972

SHGC-35059 (e-PCR)
- UniSTS:65509

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	IEA Inferred from Electronic Annotation more info
located_in centrosome	TAS Traceable Author Statement more info	PubMed
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 85 like; 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 inGenomic regions, transcripts, and products above.

Genomic

NG_021248.1 RefSeqGene
Range
63485..254304
Download
GenBank,FASTA,Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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
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_2025_08

The following sections contain reference sequences that belong to a specific genome build.Explain

This section includes genomic Reference Sequences (RefSeqs) from all assemblies on which this gene is annotated, such as RefSeqs for chromosomes and scaffolds (contigs) from both reference and alternate assemblies. Model RNAs and proteins are also reported here.

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000006.12 Reference GRCh38.p14 Primary Assembly
Range
118460772..118710089 complement
Download
GenBank,FASTA,Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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
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
XM_047418759.1 →XP_047274715.1 centrosomal protein of 85 kDa-like isoform X1
XM_047418760.1 →XP_047274716.1 centrosomal protein of 85 kDa-like isoform X1
XM_047418758.1 →XP_047274714.1 centrosomal protein of 85 kDa-like isoform X1
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
XM_047418761.1 →XP_047274717.1 centrosomal protein of 85 kDa-like isoform X3
Related
ENSP00000545650.1,ENST00000875591.1
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
XM_047418762.1 →XP_047274718.1 centrosomal protein of 85 kDa-like isoform X5
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]