Human Gene NIPSNAP1 (ENST00000216121.12

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Human Gene NIPSNAP1 (ENST00000216121.12_7) from GENCODE V47lift37

Description: nipsnap homolog 1, transcript variant 1 (from RefSeq NM_003634.4)
Gencode Transcript: ENST00000216121.12_7
Gencode Gene: ENSG00000184117.12_10
Transcript (Including UTRs)
Position: hg19 chr22:29,950,797-29,977,102 Size: 26,306 Total Exon Count: 10 Strand: -
Coding Region
Position: hg19 chr22:29,951,924-29,977,071 Size: 25,148 Coding Exon Count: 10

Page Index	Sequence and Links	UniProtKB Comments	Primers	MalaCards	CTD
Gene Alleles	RNA-Seq Expression	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 (chr22:29,950,797-29,977,102)			mRNA (may differ from genome)		Protein (284 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
BioGrid CRISPR DB

Comments and Description Text from UniProtKB


	ID: NIPS1_HUMAN DESCRIPTION: RecName: Full=Protein NipSnap homolog 1; Short=NipSnap1; TISSUE SPECIFICITY: Ubiquitous. Highest expression in liver. SIMILARITY: Belongs to the NipSnap family.

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: NIPSNAP1 Diseases sorted by gene-association score: phenylketonuria (7), maple syrup urine disease, type ii (5)

Comparative Toxicogenomics Database (CTD)


	The following chemicals interact with this gene D003993 Dibutyl Phthalate D013749 Tetrachlorodibenzodioxin D014635 Valproic Acid C016403 2,4-dinitrotoluene C547126 AZM551248 D000082 Acetaminophen D016604 Aflatoxin B1 D001151 Arsenic D019256 Cadmium Chloride D003300 Copper 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: 30.29 RPKM in Cells - EBV-transformed lymphocytes Total median expression: 449.51 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	-11.80	31	-0.381	Picture	PostScript	Text
3' UTR	-366.20	1127	-0.325	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
IPR011008 - Dimeric_a/b-barrel
IPR012577 - NIPSNAP

Pfam Domains:
PF07978 - NIPSNAP

SCOP Domains:
54909 - Dimeric alpha+beta barrel

ModBase Predicted Comparative 3D Structure on Q9BPW8


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	Genome Browser	No ortholog
Gene Details	Gene Details		Gene Details	Gene Details
Gene Sorter	Gene Sorter		Gene Sorter	Gene Sorter
	RGD	Ensembl		WormBase
				Protein Sequence
				Alignment

Gene Ontology (GO) Annotations with Structured Vocabulary


	Molecular Function: GO:0005515 protein binding GO:0042165 neurotransmitter binding Biological Process: GO:0019233 sensory perception of pain Cellular Component: GO:0005739 mitochondrion GO:0016020 membrane GO:0097060 synaptic membrane

Descriptions from all associated GenBank mRNAs


	BC018869 - Homo sapiens nipsnap homolog 1 (C. elegans), mRNA (cDNA clone IMAGE:3141493). BC002371 - Homo sapiens nipsnap homolog 1 (C. elegans), mRNA (cDNA clone MGC:8512 IMAGE:2822369), complete cds. BC006473 - Homo sapiens nipsnap homolog 1 (C. elegans), mRNA (cDNA clone MGC:4049 IMAGE:2822369), complete cds. LF384705 - JP 2014500723-A/192208: Polycomb-Associated Non-Coding RNAs. AK098367 - Homo sapiens cDNA FLJ25501 fis, clone CBR04087, highly similar to NIPSNAP, C. elegans, homolog 1. AJ001258 - Homo sapiens mRNA for NIPSNAP1 protein. JD459446 - Sequence 440470 from Patent EP1572962. JD241396 - Sequence 222420 from Patent EP1572962. JD169909 - Sequence 150933 from Patent EP1572962. JD223877 - Sequence 204901 from Patent EP1572962. JD135556 - Sequence 116580 from Patent EP1572962. JD216293 - Sequence 197317 from Patent EP1572962. JD427317 - Sequence 408341 from Patent EP1572962. LF324695 - JP 2014500723-A/132198: Polycomb-Associated Non-Coding RNAs. JD120740 - Sequence 101764 from Patent EP1572962. JD439878 - Sequence 420902 from Patent EP1572962. JD186487 - Sequence 167511 from Patent EP1572962. JD554787 - Sequence 535811 from Patent EP1572962. LF324694 - JP 2014500723-A/132197: Polycomb-Associated Non-Coding RNAs. JD063430 - Sequence 44454 from Patent EP1572962. JD141319 - Sequence 122343 from Patent EP1572962. JD483309 - Sequence 464333 from Patent EP1572962. JD485175 - Sequence 466199 from Patent EP1572962. JD445963 - Sequence 426987 from Patent EP1572962. JD053206 - Sequence 34230 from Patent EP1572962. JD504245 - Sequence 485269 from Patent EP1572962. JD539715 - Sequence 520739 from Patent EP1572962. JD216279 - Sequence 197303 from Patent EP1572962. JD425636 - Sequence 406660 from Patent EP1572962. JD498102 - Sequence 479126 from Patent EP1572962. AK298816 - Homo sapiens cDNA FLJ58042 complete cds, highly similar to Protein NipSnap1. JD498848 - Sequence 479872 from Patent EP1572962. JD344222 - Sequence 325246 from Patent EP1572962. JD497627 - Sequence 478651 from Patent EP1572962. JD090098 - Sequence 71122 from Patent EP1572962. JD349801 - Sequence 330825 from Patent EP1572962. JD555083 - Sequence 536107 from Patent EP1572962. JD166864 - Sequence 147888 from Patent EP1572962. JD506679 - Sequence 487703 from Patent EP1572962. JD419169 - Sequence 400193 from Patent EP1572962. JD427037 - Sequence 408061 from Patent EP1572962. JD346956 - Sequence 327980 from Patent EP1572962. JD389697 - Sequence 370721 from Patent EP1572962. JD116253 - Sequence 97277 from Patent EP1572962. JD321762 - Sequence 302786 from Patent EP1572962. JD130236 - Sequence 111260 from Patent EP1572962. AK290953 - Homo sapiens cDNA FLJ78131 complete cds, highly similar to Homo sapiens nipsnap homolog 1 (C. elegans) (NIPSNAP1), mRNA. JD109331 - Sequence 90355 from Patent EP1572962. JD536251 - Sequence 517275 from Patent EP1572962. JD151834 - Sequence 132858 from Patent EP1572962. AK314407 - Homo sapiens cDNA, FLJ95187, highly similar to Homo sapiens nipsnap homolog 1 (C. elegans) (NIPSNAP1), mRNA. LF324693 - JP 2014500723-A/132196: Polycomb-Associated Non-Coding RNAs. LF324692 - JP 2014500723-A/132195: Polycomb-Associated Non-Coding RNAs. JD408852 - Sequence 389876 from Patent EP1572962. JD195840 - Sequence 176864 from Patent EP1572962. MA620282 - JP 2018138019-A/192208: Polycomb-Associated Non-Coding RNAs. MA560272 - JP 2018138019-A/132198: Polycomb-Associated Non-Coding RNAs. MA560271 - JP 2018138019-A/132197: Polycomb-Associated Non-Coding RNAs. MA560270 - JP 2018138019-A/132196: Polycomb-Associated Non-Coding RNAs. MA560269 - JP 2018138019-A/132195: Polycomb-Associated Non-Coding RNAs.

Other Names for This Gene


	Alternate Gene Symbols: B2RAY3, ENST00000216121.1, ENST00000216121.10, ENST00000216121.11, ENST00000216121.2, ENST00000216121.3, ENST00000216121.4, ENST00000216121.5, ENST00000216121.6, ENST00000216121.7, ENST00000216121.8, ENST00000216121.9, NIPS1_HUMAN, NM_003634, O43800, Q9BPW8, uc317com.1, uc317com.2 UCSC ID: ENST00000216121.12_7 RefSeq Accession: NM_003634.4 Protein: Q9BPW8 (aka NIPS1_HUMAN or NPS1_HUMAN)

Gene Model Information


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Methods, Credits, and Use Restrictions


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