CEP85L - centrosomal protein 85 like Gene

Also Known as LIS10; C6orf204; NY-BR-15; bA57K17.2

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 387119

About CEP85L

Cytogenetic location: 6q22.31 Genomic coordinates (GRCh38): 6:118,460,772-118,710,089 (from NCBI)

This gene has 11 transcripts (splice variants), 205 orthologues, 1 paralogue and is associated with 2 phenotypes. Broad expression in testis (RPKM 7.6), lymph node (RPKM 5.2) and 23 other tissues.

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]

CEP85L Products (3)

mRNA	Protein	Name
NM_001042475.3	NP_001035940.1	centrosomal protein of 85 kDa-like isoform a
NM_001178035.2	NP_001171506.1	centrosomal protein of 85 kDa-like isoform c
NM_206921.3	NP_996804.2	centrosomal protein of 85 kDa-like isoform b

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	32296183	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in neuron migration	IMP IMP: Inferred from mutant phenotype	32097630	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in pericentriolar material	IDA IDA: Inferred from direct assay	32097630	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

Protein Preferred Names	Protein Names
centrosomal protein of 85 kDa-like	centrosomal protein 85kDa-like

Related Diseases

Diseases	Alias
Lissencephaly 10	LIS10
Lissencephaly	Pachygyria Broad Gyri Of Cerebrum Large Gyri Of Cerebrum Macrogyria
Cardiomyopathy, Dilated, 1p	Dilated Cardiomyopathy 1p CMD1P Cardiomyopathy, Dilated 1p Cardiomyopathy, Dilated, Type 1p
Cardiomyopathy, Familial Hypertrophic, 18	Hypertrophic Cardiomyopathy 18 CMH18 Cardiomyopathy, Hypertrophic, 18 Cardiomyopathy Familial Hypertrophic 18 Cardiomyopathy, Familial Hypertrophic 18 Cardiomyopathy, Hypertrophic, Familial, Type 18
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9	Arrhythmogenic Right Ventricular Dysplasia 9 ARVD9 Arrhythmogenic Right Ventricular Cardiomyopathy 9 Arvc9 Familial Arrhythmogenic Right Ventricular Dysplasia 9 Dysplasia, Arrhythmogenic Right Ventricular, Type 9
Sudden Infant Death Syndrome	SIDS Sudden Infant Death Syndrome, Susceptibility To Cot Death Crib Death Sudden Death Of Nonspecific Cause In Infancy Sudden Infant Death Death, Sudden, Syndrome, Infant
Hypertrophic Cardiomyopathy	Hypertrophic Obstructive Cardiomyopathy Cardiomyopathy, Hypertrophic Cardiomyopathy Hypertrophic Obstructive Cardiomyopathy, Hypertrophic, Familial Idiopathic Myocardial Hypertrophy Idiopathic Hypertrophic Cardiomyopathy Obstructive Idiopathic Hypertrophic Cardiomyopathy Obstructive Cardiomyopathy Idiopathic Hypertrophic Subaortic Stenosis Muscular Subaortic Stenosis Hypertrophic Obstructive Subaortic Stenosis
Dilated Cardiomyopathy	Familial Dilated Cardiomyopathy Primary Dilated Cardiomyopathy Idiopathic Dilated Cardiomyopathy Congestive Cardiomyopathy Idiopathic Dilation Cardiomyopathy Primary Familial Dilated Cardiomyopathy Cardiomyopathy, Dilated DCM Cardiomyopathy, Familial Dilated Dilated Cardiomyopathy, Familial Hypokinetic Dilated Cardiomyopathy, Familial Familial Idiopathic Cardiomyopathy Fdc Cardiomyopathy, Familial Idiopathic Idiopathic Cardiomegaly Dilated Congestive Cardiomyopathy Chronic Dilated Cardiomyopathy Ccm - [Congestive Cardiomyopathy] Cocm - [Congestive Cardiomyopathy] Dcm - [Dilated Cardiomyopathy] Dilated-Hypokinetic Cardiomyopathy Congestive Idiopathic Cardiomyopathy Primary Idiopathic Dilated Cardiomyopathy
Cardiac Arrest	Cardiopulmonary Arrest Circulatory Arrest Heart Arrest
Cardiac Conduction Defect	Sudden Cardiac Death Cardiac Conduction Defect, Susceptibility To SCD Cardiac Conduction Abnormality Death Sudden Cardiac Cardiac Conduction Disease Conduction Disorder Of The Heart
Myeloproliferative Neoplasm	Myeloproliferative Disorder Chronic Myeloproliferative Disease Myeloproliferative Neoplasms Chronic Myeloproliferative Disorder Cmpd Cmpd, U Chronic Myeloproliferative Disorders Mpd Mpn Myeloproliferative Disorders Myeloproliferative Disease Campomelic Dysplasia
Lymphoblastic Lymphoma	Lymphoma, Lymphoblastic Lymphoma Lymphoblastic Precursor Cell Lymphoblastic Lymphoma Precursor Cell Lymphoblastic Leukemia Lymphoma
Intellectual Developmental Disorder, Autosomal Dominant 43	MRD43 Autosomal Dominant Non-Syndromic Intellectual Disability 43 Autosomal Dominant Intellectual Developmental Disorder 43 Autosomal Dominant Mental Retardation 43
Macular Dystrophy, Patterned, 2	Patterned Macular Dystrophy 2 MDPT2 Macular Dystrophy, Butterfly-Shaped Pigmentary, 2 Butterfly-Shaped Pigmentary Maculary Dystrophy 2
Mild Cognitive Impairment
Chromosome 10q23 Deletion Syndrome
Ritscher-Schinzel Syndrome 2	RTSC2
Breast Cancer	Breast Carcinoma Male Breast Cancer Breast Cancer, Familial Malignant Neoplasm Of Breast Breast Cancer, Susceptibility To Breast Cancer, Early-Onset Malignant Tumor Of Breast Carcinoma Of Male Breast Breast Cancer, Invasive Ductal Breast Cancer, Protection Against Breast Cancer, Somatic Breast Cancer, Male Breast Cancer, Lobular, Somatic Breast Tumor Mammary Cancer Mammary Tumor Malignant Neoplasm Of Male Breast Mammary Carcinoma Male Breast Carcinoma Familial Cancer Of Breast Invasive Ductal Breast Carcinoma Breast Cancer Susceptibility Breast Cancer, Male, Susceptibility To Breast Cancer, Early-Onset, Susceptibility To Malignant Tumor Of The Breast Mammary Neoplasm Primary Breast Cancer Neoplasm Of Male Breast Carcinoma Of Breast Breast Cancer In Men Familial Breast Cancer Cancer Of Breast BC Breast Cancer Familial Breast Cancer Familial Male Breast Cancer, Familial Male Breast Male Carcinoma Breast Neoplasms Breast Neoplasms, Male Mammary Tumors Mammary Carcinomas Cancer, Breast Cancer, Breast, Susceptibility Invasive Breast Ductal Carcinoma Breast Neoplasm Susceptibility To Breast Cancer Mammary Neoplasms Animal Mammary Neoplasms Primary Malignant Neoplasm Of Breast Infiltrating Ductal Carcinoma Of Breast Infiltrating Duct Carcinoma Of Unspecified Site Infiltrating Ductular Carcinoma Of Unspecified Site Invasive Breast Carcinoma Of No Special Type Microinvasive Carcinoma Of Breast Carcinoma With Apocrine Differentiation

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS02527	CEP85L Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	CEP85L	VGNC	VGNC:39141
Macaca mulatta	CEP85L	VGNC	VGNC:71073
Bos taurus	CEP85L	VGNC	VGNC:27217
Rattus norvegicus	CEP85L	RGD	RGD:2319745
Felis catus	CEP85L	VGNC	VGNC:60787
Mus musculus	CEP85L	MGD	MGI:3642684
Others	CEP85L	NCBI