Human Gene POC1A (ENST00000394970.6) from GENCODE V44
  Description: Homo sapiens POC1 centriolar protein A (POC1A), transcript variant 2, mRNA. (from RefSeq NM_001161580)
RefSeq Summary (NM_001161580): 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].
Gencode Transcript: ENST00000394970.6
Gencode Gene: ENSG00000164087.8
Transcript (Including UTRs)
   Position: hg38 chr3:52,075,286-52,154,690 Size: 79,405 Total Exon Count: 10 Strand: -
Coding Region
   Position: hg38 chr3:52,075,887-52,154,372 Size: 78,486 Coding Exon Count: 10 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr3:52,075,286-52,154,690)mRNA (may differ from genome)Protein (359 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCLynxMalacardsMGIneXtProtOMIM
PubMedUniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: POC1A_HUMAN
DESCRIPTION: RecName: Full=POC1 centriolar protein homolog A; AltName: Full=Pix2; AltName: Full=WD repeat-containing protein 51A;
FUNCTION: Involved in early steps of centriole duplication, as well as in the later steps of centriole length control. Required for ciliogenesis.
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, centrosome, centriole. Cytoplasm, cytoskeleton, cilium basal body. Note=Component of both mother and daughter centrioles.
DISEASE: 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 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. Note=Cells derived from affected individuals have abnormal mitotic mechanics with multipolar spindles, in addition to clearly impaired ciliogenesis.
SIMILARITY: Belongs to the WD repeat POC1 family.
SIMILARITY: Contains 7 WD repeats.
SEQUENCE CAUTION: Sequence=CAB56021.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: POC1A
Diseases sorted by gene-association score: short stature, onychodysplasia, facial dysmorphism, and hypotrichosis* (1703), hypotrichosis (30), fallopian tube disease (16), salpingitis (11), tracheal stenosis (6), growth hormone deficiency, isolated, type ia (5), tracheal disease (5)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 17.73 RPKM in Testis
Total median expression: 75.73 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -156.20318-0.491 Picture PostScript Text
3' UTR -231.60601-0.385 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR020472 - G-protein_beta_WD-40_rep
IPR015943 - WD40/YVTN_repeat-like_dom
IPR001680 - WD40_repeat
IPR019775 - WD40_repeat_CS
IPR017986 - WD40_repeat_dom

Pfam Domains:
PF00400 - WD domain, G-beta repeat

ModBase Predicted Comparative 3D Structure on Q8NBT0
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologGenome BrowserNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD Ensembl  
Protein SequenceProtein Sequence Protein Sequence  
AlignmentAlignment Alignment  

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding

Biological Process:
GO:0003431 growth plate cartilage chondrocyte development
GO:0007052 mitotic spindle organization
GO:0007283 spermatogenesis
GO:0010825 positive regulation of centrosome duplication
GO:0030030 cell projection organization
GO:0060348 bone development
GO:1905515 non-motile cilium assembly

Cellular Component:
GO:0000922 spindle pole
GO:0005737 cytoplasm
GO:0005813 centrosome
GO:0005814 centriole
GO:0005856 cytoskeleton
GO:0036064 ciliary basal body
GO:0042995 cell projection


-  Descriptions from all associated GenBank mRNAs
  KJ902384 - Synthetic construct Homo sapiens clone ccsbBroadEn_11778 POC1A gene, encodes complete protein.
KJ893484 - Synthetic construct Homo sapiens clone ccsbBroadEn_02878 POC1A gene, encodes complete protein.
AF088072 - Homo sapiens full length insert cDNA clone ZD93D10.
BC110877 - Homo sapiens WD repeat domain 51A, mRNA (cDNA clone MGC:131902 IMAGE:5588109), complete cds.
AK075289 - Homo sapiens cDNA FLJ90808 fis, clone Y79AA1000777, weakly similar to VEGETATIBLE INCOMPATIBILITY PROTEIN HET-E-1.
JD455627 - Sequence 436651 from Patent EP1572962.
JD428053 - Sequence 409077 from Patent EP1572962.
JD493816 - Sequence 474840 from Patent EP1572962.
BC119692 - Homo sapiens WD repeat domain 51A, mRNA (cDNA clone MGC:149611 IMAGE:40116721), complete cds.
BC119693 - Homo sapiens WD repeat domain 51A, mRNA (cDNA clone IMAGE:40116722), partial cds.
JD152570 - Sequence 133594 from Patent EP1572962.
JD561611 - Sequence 542635 from Patent EP1572962.
JD531886 - Sequence 512910 from Patent EP1572962.
JD038907 - Sequence 19931 from Patent EP1572962.
JD470314 - Sequence 451338 from Patent EP1572962.
JD498494 - Sequence 479518 from Patent EP1572962.
JD146914 - Sequence 127938 from Patent EP1572962.
JD564969 - Sequence 545993 from Patent EP1572962.
BC007417 - Homo sapiens WD repeat domain 51A, mRNA (cDNA clone IMAGE:2989835), partial cds.
AL117629 - Homo sapiens mRNA; cDNA DKFZp434C245 (from clone DKFZp434C245); partial cds.
AK315688 - Homo sapiens cDNA, FLJ96786.
JD455769 - Sequence 436793 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000394970.1, ENST00000394970.2, ENST00000394970.3, ENST00000394970.4, ENST00000394970.5, NM_001161580, POC1A_HUMAN, Q0VDF8, Q2TAK6, Q8NBT0, Q96IK6, Q9UFJ8, uc003dcw.1, uc003dcw.2, uc003dcw.3, uc003dcw.4, WDR51A
UCSC ID: ENST00000394970.6
RefSeq Accession: NM_001161580
Protein: Q8NBT0 (aka POC1A_HUMAN)
CCDS: CCDS54592.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.