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,... See more...

Aliases for POC1A Gene

Aliases for POC1A Gene

  • POC1 Centriolar Protein A 2 3 5
  • POC1 Centriolar Protein Homolog A 3 4
  • Proteome Of Centriole Protein 1A 3 4
  • WD Repeat-Containing Protein 51A 3 4
  • WD Repeat Domain 51A 2 3
  • WDR51A 3 4
  • POC1 Centriolar Protein Homolog A (Chlamydomonas) 2
  • PIX2 3
  • SOFT 3
  • Pix2 4

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 Isolated Growth Hormone Deficiency, Type Ia. An important paralog of this gene is POC1B.

UniProtKB/Swiss-Prot Summary 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 , Rfam classification and piRNA Summary for POC1A Gene

Genomics for POC1A Gene

GeneHancer (GH) Regulatory Elements for POC1A Gene

Promoters and enhancers for POC1A 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 POC1A on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for POC1A

Genomic Locations for POC1A Gene

Genomic Locations for POC1A Gene
chr3:52,075,226-52,154,690
(GRCh38/hg38)
Size:
79,465 bases
Orientation:
Minus strand
chr3:52,109,249-52,188,706
(GRCh37/hg19)
Size:
79,458 bases
Orientation:
Minus strand

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=Extended N-terminus.; Evidence={ECO:0000305}; Sequence=CAB56021.1; Type=Erroneous initiation; Note=Extended N-terminus.; 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

GenScript: Design optimal peptide antigens:
  • WDR51A protein (A4FUW4_HUMAN)
  • WD repeat-containing protein 51A (POC1A_HUMAN)

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,IEA 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 Models for POC1A Gene

MGI Knock Outs for POC1A:
  • Poc1a Poc1a<tm1.1(KOMP)Mbp>

Animal Model Products

CRISPR Products

miRNA for POC1A Gene

miRTarBase miRNAs that target POC1A

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for POC1A

Clone Products

No data available for Enzyme Numbers (IUBMB) , 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. 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
plasma membrane 1
extracellular 1
mitochondrion 1
golgi apparatus 1

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 IDA,IEA 20008567
GO:0005815 microtubule organizing center 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

PathCards logo

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

mRNA/cDNA for POC1A Gene

3 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
3 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 POC1A

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

Expression for POC1A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for POC1A Gene



Protein tissue co-expression partners for POC1A Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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 31 30
  • 99.58 (n)
OneToOne
dog
(Canis familiaris)
Mammalia POC1A 31 30
  • 90.8 (n)
OneToOne
cow
(Bos Taurus)
Mammalia POC1A 31 30
  • 90.34 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Poc1a 17 31 30
  • 89.05 (n)
rat
(Rattus norvegicus)
Mammalia Poc1a 30
  • 88.56 (n)
oppossum
(Monodelphis domestica)
Mammalia POC1A 31
  • 75 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia POC1A 31
  • 57 (a)
OneToOne
chicken
(Gallus gallus)
Aves POC1A 31 30
  • 70.49 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia POC1A 31
  • 69 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia poc1a 30
  • 66.75 (n)
Str.11335 30
African clawed frog
(Xenopus laevis)
Amphibia MGC69111 30
zebrafish
(Danio rerio)
Actinopterygii poc1a 31 30
  • 68.96 (n)
OneToOne
Dr.21058 30
fruit fly
(Drosophila melanogaster)
Insecta Poc1 31 30
  • 53.44 (n)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP012029 30
  • 52.93 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RSA4 31
  • 17 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 63 (a)
OneToOne
Cin.8587 30
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.8587 30
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)
Aminode:
Evolutionary constrained regions (ECRs) for POC1A: view image

Paralogs for POC1A Gene

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

  • POC1A_HUMAN
genes like me logo Genes that share paralogs with POC1A: view

Variants for POC1A Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for POC1A Gene

SNP ID Clinical significance and condition Chr 03 pos Variation AA Info Type
666330 Likely Pathogenic: Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis 52,149,838(-) C/G MISSENSE_VARIANT
725710 Likely Benign: not provided 52,149,876(-) G/A MISSENSE_VARIANT
726513 Likely Benign: not provided 52,125,150(-) G/A MISSENSE_VARIANT
733627 Likely Benign: not provided 52,147,103(-) G/A INTRON_VARIANT
750773 Benign: not provided 52,149,311(-) G/A SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for POC1A Gene

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

(5) MalaCards diseases for POC1A Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, 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 54
  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 54
  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 54
  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 54
  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 54

Products for POC1A Gene

Sources for POC1A Gene