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Aliases for POC1A Gene

Aliases for POC1A Gene

  • POC1 Centriolar Protein A 2 3
  • PIX2 3 4 6
  • Proteome Of Centriole Protein 1A 3 4
  • WD Repeat-Containing Protein 51A 3 4
  • WD Repeat Domain 51A 2 3
  • WDR51A 3 4
  • SOFT 3 6
  • POC1 Centriolar Protein Homolog A (Chlamydomonas) 2
  • POC1 Centriolar Protein Homolog A 3

External Ids for POC1A Gene

Previous 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 ATG16L1.

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.

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

Genomics for POC1A Gene

Genomic Location for POC1A Gene

Start:
52,075,233 bp from pter
End:
52,154,704 bp from pter
Size:
79,472 bases
Orientation:
Minus strand

Genomic View for POC1A Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for POC1A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for POC1A Gene

No data available for Regulatory Elements 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

Proteomics data for POC1A Gene at MOPED

Post-translational modifications for POC1A Gene

No Post-translational modifications

Other Protein References for POC1A Gene

No data available for DME Specific Peptides for POC1A Gene

Domains for POC1A Gene

Gene Families for POC1A Gene

HGNC:
  • WDR :WD repeat domain containing

Suggested Antigen Peptide Sequences for POC1A Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8NBT0

UniProtKB/Swiss-Prot:

POC1A_HUMAN
Family:
  • Belongs to the WD repeat POC1 family.:
    • Q8NBT0
Similarity:
  • Contains 7 WD repeats.:
    • Q8NBT0
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.

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

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , miRNA , Transcription Factor Targeting 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
Jensen Localization Image for POC1A Gene 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:0005813 centrosome IDA 21399614
GO:0005814 centriole IDA 20008567
GO:0036064 ciliary basal body IDA 20008567
genes like me logo Genes that share ontologies with POC1A: view

Pathways for POC1A Gene

SuperPathways for POC1A Gene

No Data Available

Interacting Proteins for POC1A Gene

Gene Ontology (GO) - Biological Process for POC1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030030 cell projection organization IEA --
genes like me logo Genes that share ontologies with POC1A: view

No data available for Pathways by source for POC1A Gene

Transcripts for POC1A Gene

Unigene Clusters for POC1A Gene

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

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 for POC1A Gene

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

This gene is overexpressed in Testis (7.5).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for POC1A Gene

SOURCE GeneReport for Unigene cluster for POC1A Gene Hs.476306

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

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt 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 35
  • 99.58 (n)
  • 100 (a)
POC1A 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia POC1A 35
  • 90.34 (n)
  • 93.61 (a)
POC1A 36
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia POC1A 35
  • 90.8 (n)
  • 93.6 (a)
POC1A 36
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Poc1a 35
  • 89.05 (n)
  • 90.86 (a)
Poc1a 16
Poc1a 36
  • 91 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia POC1A 36
  • 75 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia POC1A 36
  • 57 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Poc1a 35
  • 88.56 (n)
  • 90.74 (a)
chicken
(Gallus gallus)
Aves POC1A 35
  • 70.49 (n)
  • 75.56 (a)
POC1A 36
  • 80 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia POC1A 36
  • 69 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia MGC69111 35
tropical clawed frog
(Silurana tropicalis)
Amphibia poc1a 35
  • 66.75 (n)
  • 73.28 (a)
Str.11335 35
zebrafish
(Danio rerio)
Actinopterygii Dr.21058 35
poc1a 35
  • 68.96 (n)
  • 68.62 (a)
poc1a 36
  • 64 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP012029 35
  • 52.93 (n)
  • 47.3 (a)
fruit fly
(Drosophila melanogaster)
Insecta Poc1 35
  • 53.44 (n)
  • 46.33 (a)
Poc1 36
  • 37 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RSA4 36
  • 17 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.8587 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 63 (a)
OneToOne
Species with no ortholog for POC1A:
  • 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

Selected 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 Sequence Context AA Info Type MAF
rs731684 -- 52,075,825(-) GTACC(A/G)TGGGA utr-variant-3-prime
rs735768 -- 52,140,954(-) CTTGA(A/C)AAAAA intron-variant
rs747343 -- 52,075,391(+) TGTTC(C/T)CAACA utr-variant-3-prime
rs749995 -- 52,142,685(+) CTGCA(C/T)GTCAC intron-variant
rs893055 -- 52,143,332(-) TTGGC(A/G)GAGGG intron-variant

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

Variant ID Type Subtype PubMed ID
nsv520211 CNV Gain 19592680
nsv519445 CNV Gain+Loss 19592680
nsv876786 CNV Loss 21882294
nsv508923 CNV Insertion 20534489
nsv470572 CNV Loss 18288195
nsv460537 CNV Loss 19166990
nsv508218 CNV Loss 20534489
nsv508926 CNV Insertion 20534489
nsv834694 CNV Gain 17160897

Relevant External Links for POC1A Gene

HapMap Linkage Disequilibrium report
POC1A
Human Gene Mutation Database (HGMD)
POC1A

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

Disorders for POC1A Gene

(1) OMIM Diseases for POC1A Gene (614783)

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

Publications for POC1A Gene

  1. Molecular architecture of the centriole proteome: the conserved WD40 domain protein POC1 is required for centriole duplication and length control. (PMID: 19109428) Keller L.C. … Marshall W.F. (Mol. Biol. Cell 2009) 2 3 4
  2. POC1A truncation mutation causes a ciliopathy in humans characterized by primordial dwarfism. (PMID: 22840364) Shaheen R. … Alkuraya F.S. (Am. J. Hum. Genet. 2012) 2 3 4
  3. Pix1 and Pix2 are novel WD40 microtubule-associated proteins that colocalize with mitochondria in Xenopus germ plasm and centrosomes in human cells. (PMID: 18068700) Hames R.S. … Fry A.M. (Exp. Cell Res. 2008) 3 4
  4. Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis syndrome is caused by a POC1A mutation. (PMID: 22840363) Sarig O. … Sprecher E. (Am. J. Hum. Genet. 2012) 3 4
  5. Poc1A and Poc1B act together in human cells to ensure centriole integrity. (PMID: 23015594) Venoux M. … Fry A.M. (J. Cell. Sci. 2013) 3 4

Products for POC1A Gene

Sources for POC1A Gene

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