Free for academic non-profit institutions. Other users need a Commercial license

Aliases for POC1A Gene

Aliases for POC1A Gene

  • POC1 Centriolar Protein A 2 3 5
  • Proteome Of Centriole Protein 1A 3 4
  • WD Repeat-Containing Protein 51A 3 4
  • WD Repeat Domain 51A 2 3
  • WDR51A 3 4
  • PIX2 3 4
  • POC1 Centriolar Protein Homolog A (Chlamydomonas) 2
  • POC1 Centriolar Protein Homolog A 3
  • SOFT 3

External Ids for POC1A Gene

Previous HGNC Symbols for POC1A Gene

  • WDR51A

Summaries for POC1A Gene

Entrez Gene Summary for POC1A Gene

  • POC1 proteins contain an N-terminal WD40 domain and a C-terminal coiled coil domain and are part of centrosomes. They play an important role in basal body and cilia formation. This gene encodes one of the two POC1 proteins found in humans. Mutations in this gene result in short stature, onychodysplasia, facial dysmorphism, and hypotrichosis (SOFT) syndrome. [provided by RefSeq, Sep 2012]

GeneCards Summary for POC1A Gene

POC1A (POC1 Centriolar Protein A) is a Protein Coding gene. Diseases associated with POC1A include Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis and Hypotrichosis. An important paralog of this gene is POC1B.

UniProtKB/Swiss-Prot for POC1A Gene

  • Plays an important role in centriole assembly and/or stability and ciliogenesis. Involved in early steps of centriole duplication, as well as in the later steps of centriole length control. Acts in concert with POC1B to ensure centriole integrity and proper mitotic spindle formation.

Additional gene information for POC1A Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for POC1A Gene

Genomics for POC1A Gene

GeneHancer (GH) Regulatory Elements for POC1A Gene

Promoters and enhancers for POC1A 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
GH03I052153 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 550.8 +0.2 225 2.6 FOXA2 SMAD1 MLX ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 POLR2B POC1A PBRM1 RRP9 DUSP7 ABHD14A-ACY1 ABHD14B PCBP4 ACY1 WDR82 GPR62
GH03I052210 Enhancer 1.4 Ensembl ENCODE dbSUPER 11.1 -56.4 -56405 2.1 ATF1 FOXA2 MLX ARID4B DMAP1 ETS1 YY1 SLC30A9 FOS ATF7 ENSG00000173366 LOC101929054 TWF2 PPM1M WDR82 MIR135A1 GLYCTK-AS1 GLYCTK POC1A DUSP7
GH03I052187 Enhancer 1.3 Ensembl ENCODE dbSUPER 11.7 -34.8 -34838 3.6 HDAC1 PKNOX1 YY1 TCF12 ZNF766 GATA2 ATF7 SMARCA5 RXRA CEBPB POC1A DUSP7 GLYCTK WDR82 MIR135A1 GLYCTK-AS1 PCBP4 GPR62 PBRM1 RFT1
GH03I052182 Enhancer 1 FANTOM5 dbSUPER 12.7 -27.6 -27618 0.4 FOXA2 ZFP64 THRB RAD21 RARA YY1 CREM RXRA REST NR2F2 POC1A ALAS1 ALDOAP1
GH03I052108 Enhancer 1.2 FANTOM5 Ensembl ENCODE dbSUPER 5 +45.2 45203 2.9 CTCF ATF4 RFX1 NCOR1 SCRT2 REST CHD2 DUSP7 ABHD14B PCBP4 ABHD14A ABHD14A-ACY1 GPR62 GLYCTK WDR82 MIR135A1 GLYCTK-AS1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around POC1A on UCSC Golden Path with GeneCards custom track

Genomic Locations for POC1A Gene

Genomic Locations for POC1A Gene
chr3:52,075,233-52,154,690
(GRCh38/hg38)
Size:
79,458 bases
Orientation:
Minus strand
chr3:52,109,249-52,188,706
(GRCh37/hg19)

Genomic View for POC1A Gene

Genes around POC1A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
POC1A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for POC1A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for POC1A Gene

Proteins for POC1A Gene

  • Protein details for POC1A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8NBT0-POC1A_HUMAN
    Recommended name:
    POC1 centriolar protein homolog A
    Protein Accession:
    Q8NBT0
    Secondary Accessions:
    • A4FUW4
    • E9PFC6
    • Q0VDF8
    • Q2TAK6
    • Q96IK6
    • Q9UFJ8

    Protein attributes for POC1A Gene

    Size:
    407 amino acids
    Molecular mass:
    45009 Da
    Quaternary structure:
    • Interacts with POC1B.
    SequenceCaution:
    • Sequence=AAI19694.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=CAB56021.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Alternative splice isoforms for POC1A Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for POC1A Gene

Post-translational modifications for POC1A Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for POC1A Gene

Domains & Families for POC1A Gene

Gene Families for POC1A Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for POC1A Gene

Graphical View of Domain Structure for InterPro Entry

Q8NBT0

UniProtKB/Swiss-Prot:

POC1A_HUMAN :
  • Belongs to the WD repeat POC1 family.
Family:
  • Belongs to the WD repeat POC1 family.
genes like me logo Genes that share domains with POC1A: view

Function for POC1A Gene

Molecular function for POC1A Gene

UniProtKB/Swiss-Prot Function:
Plays an important role in centriole assembly and/or stability and ciliogenesis. Involved in early steps of centriole duplication, as well as in the later steps of centriole length control. Acts in concert with POC1B to ensure centriole integrity and proper mitotic spindle formation.

Phenotypes From GWAS Catalog for POC1A Gene

Gene Ontology (GO) - Molecular Function for POC1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 23015594
genes like me logo Genes that share ontologies with POC1A: view
genes like me logo Genes that share phenotypes with POC1A: view

Human Phenotype Ontology for POC1A Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

miRNA for POC1A Gene

miRTarBase miRNAs that target POC1A

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for POC1A Gene

Localization for POC1A Gene

Subcellular locations from UniProtKB/Swiss-Prot for POC1A Gene

Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole. Cytoplasm, cytoskeleton, cilium basal body. Cytoplasm, cytoskeleton, spindle pole. Note=Component of both mother and daughter 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 POC1A gene
Compartment Confidence
cytoskeleton 5
cytosol 3
nucleus 2

Gene Ontology (GO) - Cellular Components for POC1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000922 spindle pole IDA 23015594
GO:0005737 cytoplasm IEA --
GO:0005813 centrosome IDA 21399614
GO:0005814 centriole IEA,IDA 20008567
GO:0005856 cytoskeleton IEA --
genes like me logo Genes that share ontologies with POC1A: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for POC1A Gene

Pathways & Interactions for POC1A Gene

SuperPathways for POC1A Gene

No Data Available

Gene Ontology (GO) - Biological Process for POC1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003431 growth plate cartilage chondrocyte development IEA --
GO:0007052 mitotic spindle organization IEA --
GO:0007283 spermatogenesis IEA --
GO:0010825 positive regulation of centrosome duplication IEA --
GO:0030030 cell projection organization IEA --
genes like me logo Genes that share ontologies with POC1A: view

No data available for Pathways by source and SIGNOR curated interactions for POC1A Gene

Drugs & Compounds for POC1A Gene

No Compound Related Data Available

Transcripts for POC1A Gene

Unigene Clusters for POC1A Gene

POC1 centriolar protein homolog A (Chlamydomonas):
Representative Sequences:

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for POC1A Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b
SP1: -
SP2: -
SP3:
SP4:

Relevant External Links for POC1A Gene

GeneLoc Exon Structure for
POC1A
ECgene alternative splicing isoforms for
POC1A

Expression for POC1A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for POC1A Gene

mRNA differential expression in normal tissues according to GTEx for POC1A Gene

This gene is overexpressed in Testis (x7.5).

Protein differential expression in normal tissues from HIPED for POC1A Gene

This gene is overexpressed in Monocytes (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for POC1A Gene



Protein tissue co-expression partners for POC1A Gene

NURSA nuclear receptor signaling pathways regulating expression of POC1A Gene:

POC1A

SOURCE GeneReport for Unigene cluster for POC1A Gene:

Hs.476306

Phenotype-based relationships between genes and organs from Gene ORGANizer for POC1A Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • integumentary
  • nervous
  • reproductive
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cheek
  • chin
  • ear
  • face
  • forehead
  • head
  • jaw
  • larynx
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • outer ear
  • skull
  • tongue
  • tooth
  • vocal cord
Thorax:
  • clavicle
Pelvis:
  • pelvis
  • testicle
Limb:
  • arm
  • digit
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • humerus
  • lower limb
  • nail
  • radius
  • shin
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
General:
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
genes like me logo Genes that share expression patterns with POC1A: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt and Evidence on tissue expression from TISSUES for POC1A Gene

Orthologs for POC1A Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for POC1A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia POC1A 33 34
  • 99.58 (n)
dog
(Canis familiaris)
Mammalia POC1A 33 34
  • 90.8 (n)
cow
(Bos Taurus)
Mammalia POC1A 33 34
  • 90.34 (n)
mouse
(Mus musculus)
Mammalia Poc1a 33 16 34
  • 89.05 (n)
rat
(Rattus norvegicus)
Mammalia Poc1a 33
  • 88.56 (n)
oppossum
(Monodelphis domestica)
Mammalia POC1A 34
  • 75 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia POC1A 34
  • 57 (a)
OneToOne
chicken
(Gallus gallus)
Aves POC1A 33 34
  • 70.49 (n)
lizard
(Anolis carolinensis)
Reptilia POC1A 34
  • 69 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia poc1a 33
  • 66.75 (n)
Str.11335 33
African clawed frog
(Xenopus laevis)
Amphibia MGC69111 33
zebrafish
(Danio rerio)
Actinopterygii poc1a 33 34
  • 68.96 (n)
Dr.21058 33
fruit fly
(Drosophila melanogaster)
Insecta Poc1 33 34
  • 53.44 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP012029 33
  • 52.93 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RSA4 34
  • 17 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 63 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.8587 33
Species where no ortholog for POC1A was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • 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)
  • 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 POC1A Gene

ENSEMBL:
Gene Tree for POC1A (if available)
TreeFam:
Gene Tree for POC1A (if available)

Paralogs for POC1A Gene

Paralogs for POC1A Gene

(12) SIMAP similar genes for POC1A Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with POC1A: view

Variants for POC1A Gene

Sequence variations from dbSNP and Humsavar for POC1A Gene

SNP ID Clin Chr 03 pos Variation AA Info Type
rs146976547 uncertain-significance, not specified, not provided 52,138,198(-) G/A coding_sequence_variant, intron_variant, missense_variant, non_coding_transcript_variant
rs397514487 pathogenic, likely-pathogenic, Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis, Primordial dwarfism 52,149,850(-) G/A coding_sequence_variant, non_coding_transcript_variant, stop_gained
rs397514488 pathogenic, Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis, Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis (SOFT) [MIM:614813] 52,147,039(-) A/G coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs866964603 likely-pathogenic, not provided 52,149,295(-) C/T coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs114209632 likely-benign, not specified 52,154,345(-) C/T intron_variant

Structural Variations from Database of Genomic Variants (DGV) for POC1A Gene

Variant ID Type Subtype PubMed ID
nsv460537 CNV loss 19166990
nsv470572 CNV loss 18288195
nsv508218 CNV deletion 20534489
nsv508923 CNV insertion 20534489
nsv508926 CNV insertion 20534489
nsv519445 CNV gain+loss 19592680
nsv520211 CNV gain 19592680
nsv590301 CNV loss 21841781
nsv834694 CNV gain 17160897

Variation tolerance for POC1A Gene

Residual Variation Intolerance Score: 78.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.56; 55.94% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for POC1A Gene

Human Gene Mutation Database (HGMD)
POC1A
SNPedia medical, phenotypic, and genealogical associations of SNPs for
POC1A

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for POC1A Gene

Disorders for POC1A Gene

MalaCards: The human disease database

(7) MalaCards diseases for POC1A Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search POC1A in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

POC1A_HUMAN
  • Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis (SOFT) [MIM:614813]: A syndrome characterized by severely short long bones, peculiar facies associated with paucity of hair, and nail anomalies. Growth retardation is evident on prenatal ultrasound as early as the second trimester of pregnancy, and affected individuals reach a final stature consistent with a height age of 6 years to 8 years. Relative macrocephaly is present during early childhood but head circumference is markedly low by adulthood. Psychomotor development is normal. Facial dysmorphism includes a long, triangular face with prominent nose and small ears, and affected individuals have an unusual high-pitched voice. Clinodactyly, brachydactyly, and hypoplastic distal phalanges and fingernails are present in association with postpubertal sparse and short hair. Typical skeletal findings include short and thick long bones with mild irregular metaphyseal changes, short femoral necks, and hypoplastic pelvis and sacrum. All long bones of the hand are short, with major delay of carpal ossification and cone-shaped epiphyses. Vertebral body ossification is also delayed. {ECO:0000269 PubMed:22840363, ECO:0000269 PubMed:22840364}. Note=The disease is caused by mutations affecting the gene represented in this entry. Cells derived from affected individuals have abnormal mitotic mechanics with multipolar spindles, in addition to clearly impaired ciliogenesis.

Additional Disease Information for POC1A

genes like me logo Genes that share disorders with POC1A: view

No data available for Genatlas for POC1A Gene

Publications for POC1A Gene

  1. POC1A truncation mutation causes a ciliopathy in humans characterized by primordial dwarfism. (PMID: 22840364) Shaheen R … Alkuraya FS (American journal of human genetics 2012) 2 3 4 58
  2. Molecular architecture of the centriole proteome: the conserved WD40 domain protein POC1 is required for centriole duplication and length control. (PMID: 19109428) Keller LC … Marshall WF (Molecular biology of the cell 2009) 2 3 4 58
  3. Poc1A and Poc1B act together in human cells to ensure centriole integrity. (PMID: 23015594) Venoux M … Fry AM (Journal of cell science 2013) 3 4 58
  4. Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis syndrome is caused by a POC1A mutation. (PMID: 22840363) Sarig O … Sprecher E (American journal of human genetics 2012) 3 4 58
  5. Basal body stability and ciliogenesis requires the conserved component Poc1. (PMID: 20008567) Pearson CG … Winey M (The Journal of cell biology 2009) 3 4 58

Products for POC1A Gene

Sources for POC1A Gene

Content
Loading form....