Human Gene PITPNA (ENST00000313486.12_9) from GENCODE V47lift37

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Description: phosphatidylinositol transfer protein alpha (from RefSeq NM_006224.4)
Gencode Transcript: ENST00000313486.12_9
Gencode Gene: ENSG00000174238.16_14
Transcript (Including UTRs)
Position: hg19 chr17:1,421,012-1,466,086 Size: 45,075 Total Exon Count: 12 Strand: -
Coding Region
Position: hg19 chr17:1,424,895-1,465,854 Size: 40,960 Coding Exon Count: 11

Page Index	Sequence and Links	Primers	MalaCards	CTD	Gene Alleles
RNA-Seq Expression	Microarray Expression	RNA Structure	Other Species	mRNA Descriptions	Other Names
Model Information	Methods

Data last updated at UCSC: 2024-08-22 23:36:26

Sequence and Links to Tools and Databases

Genomic Sequence (chr17:1,421,012-1,466,086)			mRNA (may differ from genome)		Protein (270 aa)
Gene Sorter	Genome Browser	Other Species FASTA	VisiGene	Gene interactions	Table Schema
AlphaFold	BioGPS	Ensembl	Entrez Gene	ExonPrimer	GeneCards
HGNC	Malacards	MGI	OMIM	PubMed	UniProtKB
Wikipedia	BioGrid CRISPR DB

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: PITPNA Diseases sorted by gene-association score: hereditary choroidal atrophy (2), partial central choroid dystrophy (2)

Comparative Toxicogenomics Database (CTD)


	The following chemicals interact with this gene D000082 Acetaminophen D004997 Ethinyl Estradiol C111118 2',3,3',4',5-pentachloro-4-hydroxybiphenyl C023514 2,6-dinitrotoluene D000643 Ammonium Chloride D001564 Benzo(a)pyrene D002794 Choline D002945 Cisplatin D003042 Cocaine D003993 Dibutyl Phthalate more ... click here to view the complete list

Common Gene Haplotype Alleles


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RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)


	Highest median expression: 44.04 RPKM in Brain - Frontal Cortex (BA9) Total median expression: 1443.78 RPKM View in GTEx track of Genome Browser View at GTEx portal View GTEx Body Map

Microarray Expression Data


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mRNA Secondary Structure of 3' and 5' UTRs

Region	Fold Energy	Bases	Energy/Base	Display As
5' UTR	-120.00	232	-0.517	Picture	PostScript	Text
3' UTR	-876.50	2843	-0.308	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.

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.

Mouse	Rat	Zebrafish	D. melanogaster	C. elegans	S. cerevisiae
No ortholog	No ortholog	No ortholog	No ortholog	No ortholog	No ortholog
Gene Details	Gene Details
Gene Sorter	Gene Sorter
	RGD	Ensembl

Descriptions from all associated GenBank mRNAs


	BC082976 - Homo sapiens phosphatidylinositol transfer protein, alpha, mRNA (cDNA clone MGC:99649 IMAGE:6578454), complete cds. BC045108 - Homo sapiens phosphatidylinositol transfer protein, alpha, mRNA (cDNA clone MGC:52217 IMAGE:5454273), complete cds. EU794647 - Homo sapiens epididymis secretory protein Li 36 (HEL-S-36) mRNA, complete cds. BC068538 - Homo sapiens phosphatidylinositol transfer protein, alpha, mRNA (cDNA clone IMAGE:4818885), partial cds. LF384767 - JP 2014500723-A/192270: Polycomb-Associated Non-Coding RNAs. D30036 - Homo sapiens mRNA for phosphatidylinositol transfer protein (PI-TPalpha), complete cds. BC027177 - Homo sapiens phosphatidylinositol transfer protein, alpha, mRNA (cDNA clone IMAGE:4343128). M73704 - Human phosphatidylinositol transfer protein mRNA, complete cds. AK303986 - Homo sapiens cDNA FLJ52181 complete cds, highly similar to Phosphatidylinositol transfer protein alpha isoform. HQ447667 - Synthetic construct Homo sapiens clone IMAGE:100071013; CCSB013610_01 phosphatidylinositol transfer protein, alpha (PITPNA) gene, encodes complete protein. KJ905860 - Synthetic construct Homo sapiens clone ccsbBroadEn_15530 PITPNA gene, encodes complete protein. KJ891814 - Synthetic construct Homo sapiens clone ccsbBroadEn_01208 PITPNA gene, encodes complete protein. AB464013 - Synthetic construct DNA, clone: pF1KB6375, Homo sapiens PITPNA gene for phosphatidylinositol transfer protein, alpha, without stop codon, in Flexi system. CU692250 - Synthetic construct Homo sapiens gateway clone IMAGE:100022402 5' read PITPNA mRNA. MA620344 - JP 2018138019-A/192270: Polycomb-Associated Non-Coding RNAs. AL117644 - Homo sapiens mRNA; cDNA DKFZp434M095 (from clone DKFZp434M095). JD090620 - Sequence 71644 from Patent EP1572962. JD225546 - Sequence 206570 from Patent EP1572962. JD357866 - Sequence 338890 from Patent EP1572962. JD272663 - Sequence 253687 from Patent EP1572962. JD554328 - Sequence 535352 from Patent EP1572962. JD109922 - Sequence 90946 from Patent EP1572962. JD085740 - Sequence 66764 from Patent EP1572962. JD332882 - Sequence 313906 from Patent EP1572962. JD494631 - Sequence 475655 from Patent EP1572962. JD127329 - Sequence 108353 from Patent EP1572962. JD439582 - Sequence 420606 from Patent EP1572962. DQ599436 - Homo sapiens piRNA piR-37502, complete sequence. JD236012 - Sequence 217036 from Patent EP1572962. JD267463 - Sequence 248487 from Patent EP1572962. JD552493 - Sequence 533517 from Patent EP1572962. JD341613 - Sequence 322637 from Patent EP1572962. JD242007 - Sequence 223031 from Patent EP1572962. JD041643 - Sequence 22667 from Patent EP1572962. JD084944 - Sequence 65968 from Patent EP1572962. JD260954 - Sequence 241978 from Patent EP1572962. JD073304 - Sequence 54328 from Patent EP1572962. JD177332 - Sequence 158356 from Patent EP1572962. JD291425 - Sequence 272449 from Patent EP1572962. JD271733 - Sequence 252757 from Patent EP1572962. JD226728 - Sequence 207752 from Patent EP1572962. JD237543 - Sequence 218567 from Patent EP1572962. JD339923 - Sequence 320947 from Patent EP1572962. JD054733 - Sequence 35757 from Patent EP1572962. JD239401 - Sequence 220425 from Patent EP1572962. JD419270 - Sequence 400294 from Patent EP1572962. JD511262 - Sequence 492286 from Patent EP1572962. JD326743 - Sequence 307767 from Patent EP1572962. JD265546 - Sequence 246570 from Patent EP1572962. JD292720 - Sequence 273744 from Patent EP1572962. JD564939 - Sequence 545963 from Patent EP1572962. JD067407 - Sequence 48431 from Patent EP1572962. JD291886 - Sequence 272910 from Patent EP1572962. LF326772 - JP 2014500723-A/134275: Polycomb-Associated Non-Coding RNAs. JD120263 - Sequence 101287 from Patent EP1572962. JD398297 - Sequence 379321 from Patent EP1572962. JD336540 - Sequence 317564 from Patent EP1572962. JD243784 - Sequence 224808 from Patent EP1572962. LF326771 - JP 2014500723-A/134274: Polycomb-Associated Non-Coding RNAs. JD183611 - Sequence 164635 from Patent EP1572962. JD230367 - Sequence 211391 from Patent EP1572962. JD370533 - Sequence 351557 from Patent EP1572962. LF326769 - JP 2014500723-A/134272: Polycomb-Associated Non-Coding RNAs. DQ592045 - Homo sapiens piRNA piR-59157, complete sequence. DQ572386 - Homo sapiens piRNA piR-40498, complete sequence. MA562349 - JP 2018138019-A/134275: Polycomb-Associated Non-Coding RNAs. MA562348 - JP 2018138019-A/134274: Polycomb-Associated Non-Coding RNAs. MA562346 - JP 2018138019-A/134272: Polycomb-Associated Non-Coding RNAs. DQ580942 - Homo sapiens piRNA piR-49054, complete sequence. JD129633 - Sequence 110657 from Patent EP1572962. JD216912 - Sequence 197936 from Patent EP1572962.

Other Names for This Gene


	Alternate Gene Symbols: ENST00000313486.1, ENST00000313486.10, ENST00000313486.11, ENST00000313486.2, ENST00000313486.3, ENST00000313486.4, ENST00000313486.5, ENST00000313486.6, ENST00000313486.7, ENST00000313486.8, ENST00000313486.9, HEL-S-36 , NM_006224, uc317pkq.1, uc317pkq.2, V9HWC5, V9HWC5_HUMAN UCSC ID: ENST00000313486.12_9 RefSeq Accession: NM_006224.4

Gene Model Information


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Methods, Credits, and Use Restrictions


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