NIPSNAP1
Protein NipSnap homolog 1
Also known as: NIPS1_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9BPW8
- Gene
- NIPSNAP1
- Ensembl
- ENSG00000184117
- Chromosome
- 22
- Canonical length
- 284 aa
- Protein class
- Plasma proteins, Predicted intracellular proteins
OverviewNCBI Gene
This gene encodes a member of the NipSnap family of proteins that may be involved in vesicular transport. A similar protein in mice inhibits the calcium channel TRPV6, and is also localized to the inner mitochondrial membrane where it may play a role in mitochondrial DNA maintenance. A pseudogene of this gene is located on the short arm of chromosome 17. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2011]
Canonical amino-acid sequenceUniProt
284 residues, UniProt reviewed canonical sequence.
>Q9BPW8|NIPSNAP1
1 MAPRLCSISV TARRLLGGPG PRAGDVASAA AARFYSKDNE GSWFRSLFVH KVDPRKDAHS
61 TLLSKKETSN LYKIQFHNVK PEYLDAYNSL TEAVLPKLHL DEDYPCSLVG NWNTWYGEQD
121 QAVHLWRFSG GYPALMDCMN KLKNNKEYLE FRRERSQMLL SRRNQLLLEF SFWNEPQPRM
181 GPNIYELRTY KLKPGTMIEW GNNWARAIKY RQENQEAVGG FFSQIGELYV VHHLWAYKDL
241 QSREETRNAA WRKRGWDENV YYTVPLVRHM ESRIMIPLKI SPLQLocalizationUniProt · AlphaFold · HPA
Whether an antibody against NIPSNAP1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.35
- Highest tissue expression
- 273 nTPM
Expression across tissuesHPA
Tissue
- liver: 273 nTPM
- kidney: 110 nTPM
- choroid plexus: 65 nTPM
- parathyroid gland: 64 nTPM
- duodenum: 63 nTPM
- cerebral cortex: 53 nTPM
Single-cell type
- proximal tubule cells: 50 nCPM
- hepatocytes: 45 nCPM
- rod photoreceptor cells: 28 nCPM
- choroid plexus epithelial cells: 28 nCPM
- retinal ganglion cells: 27 nCPM
- retinal horizontal cells: 26 nCPM
Immune cell
- T-reg: 45 nTPM
- MAIT T-cell: 41 nTPM
- naive CD8 T-cell: 40 nTPM
- NK-cell: 40 nTPM
- memory CD8 T-cell: 36 nTPM
- memory CD4 T-cell: 35 nTPM
Brain region
- hypothalamus: 66 nTPM
- pons: 61 nTPM
- cerebral cortex: 57 nTPM
- hippocampal formation: 57 nTPM
- basal ganglia: 56 nTPM
- midbrain: 55 nTPM
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.54
- gnomAD pLI
- 0.1
- gnomAD missense Z
- 1.84
- DepMap mean gene effect
- -0.05
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of NIPSNAP1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads NIPSNAP1 as an antibody target. Whether an autoantibody or antibody against NIPSNAP1 could matter depends on whether native NIPSNAP1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
NIPSNAP1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label NIPSNAP1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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