POC1A Gene
protein-coding GIFtS: 41
GCID: GC03M052109
|
|
POC1 centriolar protein homolog A (Chlamydomonas)(Previous name: WD repeat domain 51A )
(Previous symbol: WDR51A)
| |
Aliases
for POC1A gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| POC1 Centriolar Protein Homolog A (Chlamydomonas)1 2 | | PIX22 | | WDR51A1 2 3 | | SOFT2 | | WD Repeat Domain 51A1 2 | | POC1 Centriolar Protein Homolog A2 | | WD Repeat-Containing Protein 51A2 3 | | Pix23 | | DKFZP434C2451 | | |
Export aliases for POC1A gene to outside databases |
Summaries
for POC1A gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for POC1A:
POC1 proteins contain an N-terminal WD40 domain and a C-terminal coiled coil domain and are part of centrosomes. Theyplay an important role in basal body and cilia formation. This gene encodes one of the two POC1 proteins found inhumans. Mutations in this gene result in short stature, onychodysplasia, facial dysmorphism, and hypotrichosis (SOFT)syndrome. (provided by RefSeq, Sep 2012)
UniProtKB/Swiss-Prot: POC1A_HUMAN, Q8NBT0Function: Involved in early steps of centriole duplication, as well as in the later steps of centriole length control.Required for ciliogenesis
|
Genomic Views
for POC1A gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000003.11 NC_018914.1 NT_022517.18
Regulatory elements:
 Search SABiosciences Regulatory transcription factor binding sites for POC1A
Other transcription factors
Search SABiosciences Chromatin IP Primers for POC1A
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat POC1A |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 3p21.2 Ensembl cytogenetic band: 3p21.2 HGNC cytogenetic band: 3p21.2POC1A Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 3 GeneLoc Exon Structure GeneLoc location for GC03M052109: view genomic region
(about GC identifiers)
Start:
|
52,109,249 bp from pter |
End:
|
52,188,706 bp from pter |
Size:
|
79,458 bases |
Orientation:
|
minus strand |
|
Proteins
for POC1A gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: POC1A_HUMAN, Q8NBT0 (See
protein sequence)Recommended Name: POC1 centriolar protein homolog A Size: 407 amino acids; 45009 Da
Subcellular location: Cytoplasm, cytoskeleton, centrosome, centriole. Cytoplasm, cytoskeleton, cilium basal body.Note=Component of both mother and daughter centrioles
Sequence caution: Sequence=CAB56021.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Secondary accessions: Q0VDF8 Q2TAK6 Q96IK6 Q9UFJ8Alternative splicing: 2 isoforms: Q8NBT0-1 Q8NBT0-2 (No experimental confirmation available)Explore the universe of human proteins at neXtProt for POC1A: NX_Q8NBT0
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q8NBT0
POC1A Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins (3 alternative transcripts):
NP_001155052.1 NP_001155053.1 NP_056241.3
ENSEMBL proteins: ENSP00000296484 ENSP00000378421 ENSP00000418968
Human Recombinant Protein Products for POC1A:
Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view): About this table
POC1A for ontologies About GeneDecksing
POC1A Antibody Products:
Assay Products for POC1A: |
Protein
Domains /
Families
for POC1A gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
POC1A for domains About GeneDecksing
5 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry Q8NBT0ProtoNet protein and cluster: Q8NBT0 UniProtKB/Swiss-Prot: POC1A_HUMAN, Q8NBT0Similarity: Belongs to the WD repeat POC1 familySimilarity: Contains 7 WD repeats |
Function
for POC1A gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
inGenious Targeting Laboratory,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase,
shRNA from
OriGene,
Sirion Biotech,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Sirion Biotech,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
Sirion Biotech,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Molecular Function:
UniProtKB/Swiss-Prot Summary: POC1A_HUMAN, Q8NBT0Function: Involved in early steps of centriole duplication, as well as in the later steps of centriole length control.Required for ciliogenesisAnimal Models:
Clone
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OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for POC1A (see all 3)
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In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for POC1A |
|
Pathways & Interactions
for POC1A gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for POC1A
1 Interacting protein for POC1A (Q8NBT03) via UniProtKB, MINT, STRING, and/or I2DAbout this table
Gene Ontology (GO): 1 biological process term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0030030 | cell projection organization |
IEA | -- |
POC1A for ontologies About GeneDecksing
|
Drugs & Compounds
for POC1A gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
 Browse Tocris compounds for POC1A
Search CenterWatch for drugs/clinical trials and news about POC1A
|
Transcripts
for POC1A gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
Sirion Biotech,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for POC1A gene (3 alternative transcripts): NM_001161580.1 NM_001161581.1 NM_015426.4 Unigene Cluster for POC1A: POC1 centriolar protein homolog A (Chlamydomonas) Hs.476306 [show with all ESTs]Unigene Representative Sequence: NM_0011615813 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000296484 ENST00000394970(uc003dcv.3 uc003dcu.3 uc003dcw.3)
ENST00000474012
Clone
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Synthesis Service for POC1A | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat POC1A |
Additional cDNA sequence: AF088072.1 AK075289.1 AK315688.1 AL117629.1 BC007417.2 BC110877.1 BC119692.2 BC119693.2 3 DOTS entries: DT.100786330 DT.310232 DT.100786331 24/144 AceView cDNA sequences (see all 144): CR617280 BU162684 CR603119 CR608071 BQ053484 CA944751 BM701085 CR621643 AI754568 BG750211 BE298696 BU857837 CR613937 CR610123 BU557892 BE740425 BE795976 CR611109 BU950425 BU860239 AA306007 BX283461 BC007417 CD243955
GeneLoc Exon Structure
4 Alternative Splicing Database (ASD) splice patterns (SP) for POC1A About this scheme
| ExUns: | 1a | · | 1b | ^ | 2a | · | 2b | ^ | 3 | ^ | 4a | · | 4b | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11a | · | 11b |
|---|
|
| SP1: | | | | | - | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP2: | | | | | | | | | | | | | | | | | | | | | | | | | - | | | | | | |
| SP3: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP4: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
ECgene alternative splicing isoforms for POC1A
|
Expression
for POC1A gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| POC1A expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: --
About this image
See POC1A Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for POC1A
SOURCE GeneReport for Unigene cluster: Hs.476306
SABiosciences Custom PCR Arrays for POC1A
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for POC1A
Browse OriGene validated miRNA SYBR primer pairs
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Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for POC1A |
Orthologs
for POC1A gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of chordates.
Orthologs for POC1A gene from 4/19 species (see all 19) About this table
| Organism |
Taxonomic
classification |
Gene |
Description |
Human
Similarity |
Orthology
Type |
Details |
chicken
(Gallus gallus) |
Aves |
POC1A1 |
POC1 centriolar protein homolog A (Chlamydomonas) |
69.97(n)
74.93(a) |
|
415889 XM_414244.3 XP_414244.2 |
lizard
(Anolis carolinensis) |
Reptilia |
POC1A6 |
-- |
84(a) |
1 ↔ 1 |
2(153678353-153703905) |
African clawed frog
(Xenopus laevis) |
Amphibia |
MGC691112 |
hypothetical protein MGC69111 |
76.49(n) |
|
BC056099.1 |
zebrafish
(Danio rerio) |
Actinopterygii |
Dr.210582 |
Danio rerio cDNA clone MGC56055 IMAGE3820440, complete more |
77.66(n) |
|
BC045888.1 |
ENSEMBL Gene Tree for POC1A (if available)
TreeFam Gene Tree for POC1A (if available) |
Paralogs
for POC1A gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for POC1A gene
- POC1B2 WDR832 WDR52 ATG16L12 WDR882 SNRNP402 WDR5B2 KATNB12
- PAFAH1B12 PRPF42 DAW12 WDR382 ATG16L22 WDSUB12
16 SIMAP similar genes for POC1A using alignment to 2 protein entries: POC1A_HUMAN (see all proteins):WDR51A DKFZp762M0115 POC1B POC1B-GALNT4 WDR51B PF20
WDR5B TUWD12 WDR5 WDR48 WSB1 WDR69
GNB2 WDR38 PAFAH1B1 GNB2L1
POC1A for paralogs About GeneDecksing
|
Genomic Variants
for POC1A gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 3 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for POC1A (52109249 - 52188706 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for POC1A: --
Human Gene Mutation Database (HGMD): POC1A
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing POC1A |
|
Disorders
/ Diseases
for POC1A gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
 POC1A for disorders About MalaCards
POC1A for disorders About GeneDecksing
OMIM gene information: 614783
OMIM disorders: --
UniProtKB/Swiss-Prot: POC1A_HUMAN, Q8NBT0
Defects in POC1A are the cause of 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 ofpregnancy, and affected individuals reach a final stature consistent with a height age of 6 years to 8 years. Relativemacrocephaly is present during early childhood but head circumference is markedly low by adulthood. Psychomotordevelopment is normal. Facial dysmorphism includes a long, triangular face with prominent nose and small ears, andaffected individuals have an unusual high-pitched voice. Clinodactyly, brachydactyly, and hypoplastic distal phalangesand fingernails are present in association with postpubertal sparse and short hair. Typical skeletal findings includeshort and thick long bones with mild irregular metaphyseal changes, short femoral necks, and hypoplastic pelvis andsacrum. All long bones of the hand are short, with major delay of carpal ossification and cone-shaped epiphyses.Vertebral body ossification is also delayed. Note=Cells derived from affected individuals have abnormal mitoticmechanics with multipolar spindles, in addition to clearly impaired ciliogenesis
Export disorders for POC1A gene to outside databases
|
Publications
for POC1A gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for POC1A gene, integrated from 9 sources (see all 13):
(articles sorted by number of sources associating them with POC1A) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Molecular architecture of the centriole proteome: the conserved WD40 domain protein POC1 is required for centriole duplication and l ength control. (PubMed id 19109428)1, 2, 3 Keller L.C....Marshall W.F. (2009)
- Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis syndrome is caused by a POC1A mutation. (PubMed id 22840363)1, 2 Sarig O....Sprecher E. (2012)
- POC1A truncation mutation causes a ciliopathy in humans characterized by primordial dwarfism. (PubMed id 22840364)1, 2 Shaheen R.... Alkuraya F.S. (2012)
- Pix1 and Pix2 are novel WD40 microtubule-associated proteins that colocalize with mitochondria in Xenopus germ plasm and centrosomes in human cells. (PubMed id 18068700)1, 2 Hames R.S....Fry A.M. (2008)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
- Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1, 3 Strausberg R.L....Marra M.A. (2002)
- A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)
- Systematic analysis of human protein complexes identi fies chromosome segregation proteins. (PubMed id 20360068)1 Hutchins J.R....Peters J.M. (2010)
- Basal body stability and ciliogenesis requires the co nserved component Poc1. (PubMed id 20008567)2 Pearson C.G....Winey M. (2009)
|
External Searches for POC1A gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing POC1A gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing POC1A gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing POC1A gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
| Name | Description |
| PharmGKB entry for POC1A | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for POC1A gene:
Search GeneIP for patents involving POC1A
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for POC1A gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory)
About This Section
|
 | |
 | |
 |
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 |
 | | | POC1A Proteins, Antibodies, CLIAs, and ELISAs |
| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for POC1A |
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