Human Gene F8A1 (ENST00000610495.2_3) from GENCODE V47lift37

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Description: coagulation factor VIII associated 1 (from RefSeq NM_012151.4)
Gencode Transcript: ENST00000610495.2_3
Gencode Gene: ENSG00000288722.1_2
Transcript (Including UTRs)
Position: hg19 chrX:154,114,630-154,116,336 Size: 1,707 Total Exon Count: 1 Strand: +
Coding Region
Position: hg19 chrX:154,114,650-154,115,765 Size: 1,116 Coding Exon Count: 1

Page Index	Sequence and Links	UniProtKB Comments	Primers	MalaCards	CTD
Gene Alleles	Microarray Expression	RNA Structure	Protein Structure	Other Species	GO Annotations
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 (chrX:154,114,630-154,116,336)			mRNA (may differ from genome)		Protein (371 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

Comments and Description Text from UniProtKB


	ID: F8I2_HUMAN DESCRIPTION: RecName: Full=Factor VIII intron 22 protein; AltName: Full=CpG island protein; FUNCTION: Not known. Possible housekeeping role. TISSUE SPECIFICITY: Produced abundantly in a wide variety of cell types. SEQUENCE CAUTION: Sequence=AAA35713.1; Type=Frameshift; Positions=231, 257, 367;

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: F8A1 Diseases sorted by gene-association score: retiform hemangioendothelioma (8), acquired hemophilia a (3), acquired hemophilia (3), severe hemophilia a (2)

Comparative Toxicogenomics Database (CTD)


	The following chemicals interact with this gene D019327 Copper Sulfate D010634 Phenobarbital D010894 Piroxicam D018038 Sodium Selenite D012999 Soman D024483 Vitamin K 3

Common Gene Haplotype Alleles


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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	-5.00	20	-0.250	Picture	PostScript	Text
3' UTR	-116.50	571	-0.204	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
IPR011990 - TPR-like_helical

Pfam Domains:
PF14938 - Soluble NSF attachment protein, SNAP

SCOP Domains:
48452 - TPR-like

ModBase Predicted Comparative 3D Structure on P23610


Front	Top	Side

The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

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

Gene Ontology (GO) Annotations with Structured Vocabulary


	Molecular Function: GO:0003674 molecular_function GO:0005515 protein binding Biological Process: GO:0008150 biological_process Cellular Component: GO:0005634 nucleus

Descriptions from all associated GenBank mRNAs


	LF385331 - JP 2014500723-A/192834: Polycomb-Associated Non-Coding RNAs. MA620908 - JP 2018138019-A/192834: Polycomb-Associated Non-Coding RNAs. LP896573 - Sequence 1437 from Patent EP3253886. BC071963 - Homo sapiens coagulation factor VIII-associated (intronic transcript) 1, mRNA (cDNA clone MGC:88655 IMAGE:5477018), complete cds. AB462986 - Synthetic construct DNA, clone: pF1KB8702, Homo sapiens F8A1 gene for coagulation factor VIII-associated 1, without stop codon, in Flexi system. AM393473 - Synthetic construct Homo sapiens clone IMAGE:100002466 for hypothetical protein (F8A1 gene). AM393736 - Synthetic construct Homo sapiens clone IMAGE:100002465 for hypothetical protein (F8A1 gene). BC156292 - Synthetic construct Homo sapiens clone IMAGE:100061728, MGC:190084 coagulation factor VIII-associated (intronic transcript) 3 (F8A3) mRNA, encodes complete protein. BC172273 - Synthetic construct Homo sapiens clone IMAGE:100068967, MGC:198978 coagulation factor VIII-associated (intronic transcript) 2 (F8A2) mRNA, encodes complete protein. DQ896667 - Synthetic construct Homo sapiens clone IMAGE:100011127; FLH196463.01L; RZPDo839D08155D coagulation factor VIII-associated (intronic transcript) 1 (F8A1) gene, encodes complete protein. BC039693 - Homo sapiens coagulation factor VIII-associated (intronic transcript) 1, mRNA (cDNA clone MGC:44976 IMAGE:5214628), complete cds. JD022049 - Sequence 3073 from Patent EP1572962. JD029682 - Sequence 10706 from Patent EP1572962. HZ480656 - JP 2015535430-A/1162: TERMINALLY MODIFIED RNA. HZ790587 - JP 2016504050-A/2332: SIGNAL-SENSOR POLYNUCLEOTIDES FOR THE ALTERATION OF CELLULAR PHENOTYPES. JC513319 - Sequence 3572 from Patent WO2014113089. LQ070907 - Sequence 1231 from Patent EP2964234. JD525459 - Sequence 506483 from Patent EP1572962. JD113248 - Sequence 94272 from Patent EP1572962. JD054133 - Sequence 35157 from Patent EP1572962. JD557082 - Sequence 538106 from Patent EP1572962. JD101124 - Sequence 82148 from Patent EP1572962. JD507489 - Sequence 488513 from Patent EP1572962. JD410058 - Sequence 391082 from Patent EP1572962. JD048530 - Sequence 29554 from Patent EP1572962. JD437481 - Sequence 418505 from Patent EP1572962. JD143414 - Sequence 124438 from Patent EP1572962. JD228543 - Sequence 209567 from Patent EP1572962. JD299725 - Sequence 280749 from Patent EP1572962. JD359518 - Sequence 340542 from Patent EP1572962. JD192394 - Sequence 173418 from Patent EP1572962. JD055417 - Sequence 36441 from Patent EP1572962. JD055418 - Sequence 36442 from Patent EP1572962. JD516607 - Sequence 497631 from Patent EP1572962. JD490834 - Sequence 471858 from Patent EP1572962. JD098285 - Sequence 79309 from Patent EP1572962. MA644408 - JP 2017113010-A/2332: SIGNAL-SENSOR POLYNUCLEOTIDES FOR THE ALTERATION OF CELLULAR PHENOTYPES. MA732292 - JP 2017140048-A/1162: TERMINALLY MODIFIED RNA. MA801461 - JP 2018183181-A/2332: SIGNAL-SENSOR POLYNUCLEOTIDES FOR THE ALTERATION OF CELLULAR PHENOTYPES.

Other Names for This Gene


	Alternate Gene Symbols: ENST00000610495.1, F8A2, F8A3, HAP40_HUMAN, NM_012151, P23610, Q5HY66, Q8IXP3, uc327muq.1, uc327muq.2 UCSC ID: ENST00000610495.2_3 RefSeq Accession: NM_012151.4 Protein: P23610 (aka F8I2_HUMAN)

Gene Model Information


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Methods, Credits, and Use Restrictions


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