Aliases for CEP57L1 Gene

Aliases for CEP57L1 Gene

  • Centrosomal Protein 57 Like 1 2 3 5
  • Centrosomal Protein Of 57 KDa-Related Protein 3 4
  • Centrosomal Protein 57kDa-Like Protein 1 3 4
  • Centrosomal Protein 57kDa-Like 1 2 3
  • Centrosomal Protein CEP57L1 3 4
  • Cep57-Related Protein 3 4
  • C6orf182 3 4
  • Cep57R 3 4
  • Chromosome 6 Open Reading Frame 182 2
  • BA487F23.2 3
  • CEP57R 4

External Ids for CEP57L1 Gene

Previous HGNC Symbols for CEP57L1 Gene

  • C6orf182

Previous GeneCards Identifiers for CEP57L1 Gene

  • GC06P109418

Summaries for CEP57L1 Gene

GeneCards Summary for CEP57L1 Gene

CEP57L1 (Centrosomal Protein 57 Like 1) is a Protein Coding gene. Diseases associated with CEP57L1 include Acrocallosal Syndrome. Gene Ontology (GO) annotations related to this gene include identical protein binding and gamma-tubulin binding. An important paralog of this gene is CEP57.

UniProtKB/Swiss-Prot Summary for CEP57L1 Gene

  • Centrosomal protein which may be required for microtubule attachment to centrosomes.

Additional gene information for CEP57L1 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CEP57L1 Gene

Genomics for CEP57L1 Gene

GeneHancer (GH) Regulatory Elements for CEP57L1 Gene

Promoters and enhancers for CEP57L1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CEP57L1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CEP57L1

Genomic Locations for CEP57L1 Gene

Genomic Locations for CEP57L1 Gene
chr6:109,095,110-109,163,932
(GRCh38/hg38)
Size:
68,823 bases
Orientation:
Plus strand
chr6:109,416,313-109,485,135
(GRCh37/hg19)
Size:
68,823 bases
Orientation:
Plus strand

Genomic View for CEP57L1 Gene

Genes around CEP57L1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CEP57L1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CEP57L1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CEP57L1 Gene

Proteins for CEP57L1 Gene

  • Protein details for CEP57L1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8IYX8-CE57L_HUMAN
    Recommended name:
    Centrosomal protein CEP57L1
    Protein Accession:
    Q8IYX8
    Secondary Accessions:
    • G5E992

    Protein attributes for CEP57L1 Gene

    Size:
    460 amino acids
    Molecular mass:
    53649 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for CEP57L1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CEP57L1 Gene

Post-translational modifications for CEP57L1 Gene

  • Ubiquitination at Lys286
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for CEP57L1 Gene

Domains & Families for CEP57L1 Gene

Gene Families for CEP57L1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for CEP57L1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CEP57L1 Gene

GenScript: Design optimal peptide antigens:
  • Cep57-related protein (CE57L_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8IYX8

UniProtKB/Swiss-Prot:

CE57L_HUMAN :
  • Belongs to the translokin family.
Family:
  • Belongs to the translokin family.
genes like me logo Genes that share domains with CEP57L1: view

Function for CEP57L1 Gene

Molecular function for CEP57L1 Gene

UniProtKB/Swiss-Prot Function:
Centrosomal protein which may be required for microtubule attachment to centrosomes.

Phenotypes From GWAS Catalog for CEP57L1 Gene

Gene Ontology (GO) - Molecular Function for CEP57L1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0005515 protein binding IPI 21516116
GO:0008017 microtubule binding IBA 21873635
GO:0042802 identical protein binding IPI,IEA 25416956
GO:0043015 gamma-tubulin binding IEA --
genes like me logo Genes that share ontologies with CEP57L1: view
genes like me logo Genes that share phenotypes with CEP57L1: view

Animal Models for CEP57L1 Gene

MGI Knock Outs for CEP57L1:

Animal Model Products

CRISPR Products

miRNA for CEP57L1 Gene

miRTarBase miRNAs that target CEP57L1

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for CEP57L1 Gene

Localization for CEP57L1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CEP57L1 Gene

Cytoplasm, cytoskeleton, microtubule organizing center, centrosome.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CEP57L1 gene
Compartment Confidence
cytoskeleton 3
cytosol 3
plasma membrane 2
nucleus 2
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CEP57L1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
GO:0005737 cytoplasm IEA --
GO:0005813 centrosome IBA 21873635
GO:0005815 microtubule organizing center IEA --
GO:0005856 cytoskeleton IEA --
genes like me logo Genes that share ontologies with CEP57L1: view

Pathways & Interactions for CEP57L1 Gene

PathCards logo

SuperPathways for CEP57L1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for CEP57L1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008150 biological_process ND --
genes like me logo Genes that share ontologies with CEP57L1: view

No data available for Pathways by source and SIGNOR curated interactions for CEP57L1 Gene

Drugs & Compounds for CEP57L1 Gene

No Compound Related Data Available

Transcripts for CEP57L1 Gene

mRNA/cDNA for CEP57L1 Gene

19 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
24 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for CEP57L1 Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7
SP1:
SP2: - -
SP3:
SP4: -

Relevant External Links for CEP57L1 Gene

GeneLoc Exon Structure for
CEP57L1

Expression for CEP57L1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CEP57L1 Gene

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CEP57L1 Gene



Protein tissue co-expression partners for CEP57L1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CEP57L1

SOURCE GeneReport for Unigene cluster for CEP57L1 Gene:

Hs.632616
genes like me logo Genes that share expression patterns with CEP57L1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for CEP57L1 Gene

Orthologs for CEP57L1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CEP57L1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CEP57L1 31 30
  • 99.71 (n)
OneToOne
dog
(Canis familiaris)
Mammalia CEP57L1 31 30
  • 89.33 (n)
OneToOne
cow
(Bos Taurus)
Mammalia CEP57L1 31 30
  • 88.16 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Cep57l1 17 31 30
  • 79.64 (n)
rat
(Rattus norvegicus)
Mammalia Cep57l1 30
  • 76.59 (n)
oppossum
(Monodelphis domestica)
Mammalia CEP57L1 31
  • 52 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CEP57L1 31
  • 45 (a)
OneToOne
chicken
(Gallus gallus)
Aves CEP57L1 31 30
  • 63.54 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CEP57L1 31
  • 47 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cep57l1 30
  • 56.02 (n)
Str.11451 30
zebrafish
(Danio rerio)
Actinopterygii cep57l1 31
  • 34 (a)
OneToOne
Dr.3962 30
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3538 31
  • 27 (a)
OneToMany
Species where no ortholog for CEP57L1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CEP57L1 Gene

ENSEMBL:
Gene Tree for CEP57L1 (if available)
TreeFam:
Gene Tree for CEP57L1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CEP57L1: view image

Paralogs for CEP57L1 Gene

Paralogs for CEP57L1 Gene

(2) SIMAP similar genes for CEP57L1 Gene using alignment to 19 proteins:

  • CE57L_HUMAN
  • E5RFY4_HUMAN
  • E5RG21_HUMAN
  • E5RG82_HUMAN
  • E5RGP2_HUMAN
  • E5RGU5_HUMAN
  • E5RH23_HUMAN
  • E5RHF8_HUMAN
  • E5RI49_HUMAN
  • E5RIK8_HUMAN
  • E5RIV2_HUMAN
  • E5RJG4_HUMAN
  • E5RJH1_HUMAN
  • E5RJP9_HUMAN
  • E5RK85_HUMAN
  • G3V140_HUMAN
  • G5E992_HUMAN
  • H0YB52_HUMAN
  • Q5T6A0_HUMAN

Pseudogenes.org Pseudogenes for CEP57L1 Gene

genes like me logo Genes that share paralogs with CEP57L1: view

Variants for CEP57L1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CEP57L1 Gene

SNP ID Clinical significance and condition Chr 06 pos Variation AA Info Type
718017 Likely Benign: not provided 109,159,086(+) CT/C FRAMESHIFT_VARIANT
788539 Benign: not provided 109,145,249(+) G/T MISSENSE_VARIANT,INTRON_VARIANT
792048 Benign: not provided 109,150,170(+) G/A NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT,FIVE_PRIME_UTR_VARIANT
rs351733 - p.Asp194Glu

Additional dbSNP identifiers (rs#s) for CEP57L1 Gene

Structural Variations from Database of Genomic Variants (DGV) for CEP57L1 Gene

Variant ID Type Subtype PubMed ID
esv2732562 CNV deletion 23290073
esv993225 CNV deletion 20482838

Variation tolerance for CEP57L1 Gene

Residual Variation Intolerance Score: 73.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.81; 58.37% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CEP57L1 Gene

Human Gene Mutation Database (HGMD)
CEP57L1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CEP57L1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CEP57L1 Gene

Disorders for CEP57L1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for CEP57L1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
acrocallosal syndrome
  • acls
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for CEP57L1

genes like me logo Genes that share disorders with CEP57L1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CEP57L1 Gene

Publications for CEP57L1 Gene

  1. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 54
  2. Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing. (PMID: 26871637) Yang X … Vidal M (Cell 2016) 3 54
  3. Systematic interactome mapping of acute lymphoblastic leukemia cancer gene products reveals EXT-1 tumor suppressor as a Notch1 and FBWX7 common interactor. (PMID: 27229929) Daakour S … Twizere JC (BMC cancer 2016) 3 54
  4. Widespread macromolecular interaction perturbations in human genetic disorders. (PMID: 25910212) Sahni N … Vidal M (Cell 2015) 3 54
  5. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. (PMID: 26496610) Hein MY … Mann M (Cell 2015) 3 54

Products for CEP57L1 Gene

Sources for CEP57L1 Gene