Aliases for POC5 Gene

Aliases for POC5 Gene

  • POC5 Centriolar Protein 2 3 5
  • Centrosomal Protein POC5 3 4
  • Protein Of Centriole 5 3 4
  • C5orf37 3 4
  • HPOC5 3 4
  • POC5 Centriolar Protein Homolog (Chlamydomonas) 2
  • Chromosome 5 Open Reading Frame 37 2
  • POC5 Centriolar Protein Homolog 3
  • Proteome Of Centriole 5 3

External Ids for POC5 Gene

Previous HGNC Symbols for POC5 Gene

  • C5orf37

Previous GeneCards Identifiers for POC5 Gene

  • GC05M074970
  • GC05M070175

Summaries for POC5 Gene

GeneCards Summary for POC5 Gene

POC5 (POC5 Centriolar Protein) is a Protein Coding gene. Diseases associated with POC5 include Scoliosis and Idiopathic Scoliosis.

UniProtKB/Swiss-Prot Summary for POC5 Gene

  • Essential for the assembly of the distal half of centrioles, required for centriole elongation.

Additional gene information for POC5 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for POC5 Gene

Genomics for POC5 Gene

GeneHancer (GH) Regulatory Elements for POC5 Gene

Promoters and enhancers for POC5 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH05J075715 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 523 +0.3 288 2.8 ZBTB40 ZNF217 EP300 TCF12 SIN3A NRF1 POLR2G SP1 PHF8 ZIC2 POC5 LOC441087 lnc-ANKDD1B-5-001 lnc-COL4A3BP-3 F2R ANKDD1B RF00026-873 RNU6-680P
GH05J075712 Promoter 0.6 EPDnew 500.4 +5.0 5043 0.1 CEBPG CEBPB ATF3 POC5 LOC441087 RF00026-873 RNU6-680P lnc-COL4A3BP-3
GH05J075677 Enhancer 0.9 FANTOM5 Ensembl ENCODE 33.6 +39.1 39088 3.2 RBM25 NR2F2 RARA ZBTB33 NFIL3 ZMYM3 HLF ETS2 POC5 ANKDD1B POLK CERT1 ANKRD31 HSALNG0042749 lnc-COL4A3BP-2
GH05J075668 Enhancer 0.9 ENCODE 21.1 +48.2 48170 1.5 ZBTB40 SIN3A GTF2E2 ZIC2 ZBTB11 AFF1 REST DNMT1 MEF2C MYC HSALNG0042749 NONHSAG040754.2 POC5 ANKDD1B
GH05J075720 Enhancer 0.9 Ensembl 23 -3.8 -3813 1.4 TCF7 ZBTB25 TGIF2 MYC TEAD1 FOXA2 ZSCAN9 CEBPB TRIM24 TFDP1 lnc-ANKDD1B-5-002 POC5 ANKDD1B LOC441087 lnc-ANKDD1B-5-001
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around POC5 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for POC5

Genomic Locations for POC5 Gene

Genomic Locations for POC5 Gene
chr5:75,674,124-75,717,488
(GRCh38/hg38)
Size:
43,365 bases
Orientation:
Minus strand
chr5:74,969,949-75,013,313
(GRCh37/hg19)
Size:
43,365 bases
Orientation:
Minus strand

Genomic View for POC5 Gene

Genes around POC5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
POC5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for POC5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for POC5 Gene

Proteins for POC5 Gene

  • Protein details for POC5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8NA72-POC5_HUMAN
    Recommended name:
    Centrosomal protein POC5
    Protein Accession:
    Q8NA72
    Secondary Accessions:
    • B4DJG7
    • Q494X7
    • Q494X9
    • Q6P085

    Protein attributes for POC5 Gene

    Size:
    575 amino acids
    Molecular mass:
    63351 Da
    Quaternary structure:
    • Interacts with CETN2 and CETN3.
    SequenceCaution:
    • Sequence=BC101328; Type=Frameshift; Evidence={ECO:0000305};

    Alternative splice isoforms for POC5 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for POC5 Gene

Post-translational modifications for POC5 Gene

  • Hyperphosphorylated during recruitment to procentrioles in G2/M phase.
  • Ubiquitination at Lys538
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for POC5 Gene

Domains & Families for POC5 Gene

Gene Families for POC5 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for POC5 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for POC5 Gene

GenScript: Design optimal peptide antigens:
  • Protein of centriole 5 (POC5_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8NA72

UniProtKB/Swiss-Prot:

POC5_HUMAN :
  • Belongs to the POC5 family.
Family:
  • Belongs to the POC5 family.
genes like me logo Genes that share domains with POC5: view

Function for POC5 Gene

Molecular function for POC5 Gene

UniProtKB/Swiss-Prot Function:
Essential for the assembly of the distal half of centrioles, required for centriole elongation.

Phenotypes From GWAS Catalog for POC5 Gene

Gene Ontology (GO) - Molecular Function for POC5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with POC5: view
genes like me logo Genes that share phenotypes with POC5: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for POC5

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for POC5 Gene

Localization for POC5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for POC5 Gene

Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole. Note=Localized to the distal portion of centrioles.

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 POC5 gene
Compartment Confidence
cytoskeleton 5
nucleus 4
cytosol 4
plasma membrane 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for POC5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA --
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA --
GO:0005813 centrosome IBA,IDA 21399614
GO:0005814 centriole IEA --
genes like me logo Genes that share ontologies with POC5: view

Pathways & Interactions for POC5 Gene

PathCards logo

SuperPathways for POC5 Gene

No Data Available

Gene Ontology (GO) - Biological Process for POC5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007049 cell cycle IEA --
genes like me logo Genes that share ontologies with POC5: view

No data available for Pathways by source and SIGNOR curated interactions for POC5 Gene

Drugs & Compounds for POC5 Gene

No Compound Related Data Available

Transcripts for POC5 Gene

mRNA/cDNA for POC5 Gene

2 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
14 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for POC5

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for POC5 Gene

No ASD Table

Relevant External Links for POC5 Gene

GeneLoc Exon Structure for
POC5

Expression for POC5 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for POC5 Gene

Protein differential expression in normal tissues from HIPED for POC5 Gene

This gene is overexpressed in Nasal epithelium (67.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for POC5 Gene



Protein tissue co-expression partners for POC5 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for POC5

SOURCE GeneReport for Unigene cluster for POC5 Gene:

Hs.432726

Evidence on tissue expression from TISSUES for POC5 Gene

  • Nervous system(4.3)
  • Bone marrow(4.2)
genes like me logo Genes that share expression patterns with POC5: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for POC5 Gene

Orthologs for POC5 Gene

This gene was present in the common ancestor of chordates.

Orthologs for POC5 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia POC5 31 30
  • 99.65 (n)
OneToOne
dog
(Canis familiaris)
Mammalia POC5 31 30
  • 88.44 (n)
OneToOne
cow
(Bos Taurus)
Mammalia POC5 30
  • 85.96 (n)
MGC157319 31
  • 81 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Poc5 30
  • 80.23 (n)
mouse
(Mus musculus)
Mammalia Poc5 17 31 30
  • 79.99 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia POC5 31
  • 58 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia POC5 31
  • 53 (a)
OneToOne
chicken
(Gallus gallus)
Aves POC5 31 30
  • 62.45 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia POC5 31
  • 47 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia poc5 30
  • 56.47 (n)
Str.19260 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.19688 30
zebrafish
(Danio rerio)
Actinopterygii poc5 31 30
  • 52.9 (n)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4968 31
  • 25 (a)
OneToOne
Species where no ortholog for POC5 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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 POC5 Gene

ENSEMBL:
Gene Tree for POC5 (if available)
TreeFam:
Gene Tree for POC5 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for POC5: view image

Paralogs for POC5 Gene

No data available for Paralogs for POC5 Gene

Variants for POC5 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for POC5 Gene

SNP ID Clinical significance and condition Chr 05 pos Variation AA Info Type
638595 Uncertain Significance: Scoliosis 75,685,251(-) C/G MISSENSE_VARIANT
rs1173634890 Uncertain Significance: not provided 75,689,156(-) C/T MISSENSE_VARIANT
rs1561480377 Uncertain Significance: Retinitis pigmentosa; not provided 75,705,705(-) ATC/A NONSENSE
rs17672542 - p.Ile85Thr
rs2307111 - p.His36Arg

Additional dbSNP identifiers (rs#s) for POC5 Gene

Structural Variations from Database of Genomic Variants (DGV) for POC5 Gene

Variant ID Type Subtype PubMed ID
nsv1109709 CNV deletion 24896259
nsv1133093 OTHER inversion 24896259
nsv518475 CNV gain 19592680
nsv522003 CNV loss 19592680
nsv830353 CNV gain 17160897

Variation tolerance for POC5 Gene

Residual Variation Intolerance Score: 87.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.13; 75.65% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for POC5 Gene

Human Gene Mutation Database (HGMD)
POC5
SNPedia medical, phenotypic, and genealogical associations of SNPs for
POC5

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for POC5 Gene

Disorders for POC5 Gene

MalaCards: The human disease database

(7) MalaCards diseases for POC5 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
scoliosis
idiopathic scoliosis
  • scoliosis idiopathic
orofaciodigital syndrome i
  • ofd1
syringomyelia
retinitis pigmentosa
  • retinitis pigmentosa 1
- elite association - COSMIC cancer census association via MalaCards
Search POC5 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for POC5

genes like me logo Genes that share disorders with POC5: view

No data available for UniProtKB/Swiss-Prot and Genatlas for POC5 Gene

Publications for POC5 Gene

  1. hPOC5 is a centrin-binding protein required for assembly of full-length centrioles. (PMID: 19349582) Azimzadeh J … Bornens M (The Journal of cell biology 2009) 2 3 4 54
  2. Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index. (PMID: 20935630) Speliotes EK … Loos RJ (Nature genetics 2010) 3 41 54
  3. 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
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54
  5. Robust phosphoproteomic profiling of tyrosine phosphorylation sites from human T cells using immobilized metal affinity chromatography and tandem mass spectrometry. (PMID: 15144186) Brill LM … Peters EC (Analytical chemistry 2004) 3 4 54

Products for POC5 Gene

Sources for POC5 Gene