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Protein

Protein NipSnap homolog 2

Gene

NIPSNAP2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

May act as a positive regulator of L-type calcium channels.By similarity

GO - Biological processi

  • ATP biosynthetic process Source: BHF-UCL
  • negative regulation of ATP citrate synthase activity Source: BHF-UCL
  • oxidative phosphorylation Source: BHF-UCL
  • positive regulation of high voltage-gated calcium channel activity Source: UniProtKB

Names & Taxonomyi

Protein namesi
Recommended name:
Protein NipSnap homolog 2
Short name:
NipSnap2
Alternative name(s):
Glioblastoma-amplified sequence1 Publication
Gene namesi
Name:NIPSNAP2Imported
Synonyms:GBAS
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 7

Organism-specific databases

EuPathDBiHostDB:ENSG00000146729.9.
HGNCiHGNC:4179. NIPSNAP2.

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Membrane, Mitochondrion, Mitochondrion outer membrane

Pathology & Biotechi

Organism-specific databases

OpenTargetsiENSG00000146729.
PharmGKBiPA28593.

Polymorphism and mutation databases

BioMutaiGBAS.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002211481 – 286Protein NipSnap homolog 2Add BLAST286

Proteomic databases

EPDiO75323.
MaxQBiO75323.
PaxDbiO75323.
PeptideAtlasiO75323.
PRIDEiO75323.

2D gel databases

UCD-2DPAGEiO75323.

PTM databases

iPTMnetiO75323.
PhosphoSitePlusiO75323.
SwissPalmiO75323.

Expressioni

Tissue specificityi

Widely expressed. Most abundant in heart and skeletal muscle.

Gene expression databases

BgeeiENSG00000146729.
CleanExiHS_GBAS.
ExpressionAtlasiO75323. baseline and differential.
GenevisibleiO75323. HS.

Organism-specific databases

HPAiHPA063084.

Interactioni

Subunit structurei

Interacts with VDAC1.1 Publication

Binary interactionsi

Show more details

Protein-protein interaction databases

BioGridi108901. 57 interactors.
DIPiDIP-33564N.
IntActiO75323. 45 interactors.
MINTiMINT-5003890.
STRINGi9606.ENSP00000313050.

Structurei

3D structure databases

ProteinModelPortaliO75323.
SMRiO75323.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the NipSnap family.Curated

Phylogenomic databases

eggNOGiKOG2883. Eukaryota.
ENOG410XSWP. LUCA.
GeneTreeiENSGT00730000110910.
HOGENOMiHOG000194298.
HOVERGENiHBG052627.
InParanoidiO75323.
OMAiIMIPLKT.
OrthoDBiEOG091G0G3J.
PhylomeDBiO75323.
TreeFamiTF314501.

Family and domain databases

InterProiView protein in InterPro
IPR011008. Dimeric_a/b-barrel.
IPR012577. NIPSNAP.
PfamiView protein in Pfam
PF07978. NIPSNAP. 1 hit.
SUPFAMiSSF54909. SSF54909. 2 hits.

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: O75323-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MAARVLRARG AAWAGGLLQR AAPCSLLPRL RTWTSSSNRS REDSWLKSLF
60 70 80 90 100
VRKVDPRKDA HSNLLAKKET SNLYKLQFHN VKPECLEAYN KICQEVLPKI
110 120 130 140 150
HEDKHYPCTL VGTWNTWYGE QDQAVHLWRY EGGYPALTEV MNKLRENKEF
160 170 180 190 200
LEFRKARSDM LLSRKNQLLL EFSFWNEPVP RSGPNIYELR SYQLRPGTMI
210 220 230 240 250
EWGNYWARAI RFRQDGNEAV GGFFSQIGQL YMVHHLWAYR DLQTREDIRN
260 270 280
AAWHKHGWEE LVYYTVPLIQ EMESRIMIPL KTSPLQ
Length:286
Mass (Da):33,743
Last modified:November 1, 1998 - v1
Checksum:i7ED85297E4DC9D08
GO
Isoform 2 (identifier: O75323-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     79-148: HNVKPECLEA...EVMNKLRENK → KRCCQRFTKINTTLVLWWGLGTRGMASRTKL

Note: No experimental confirmation available.
Show »
Length:247
Mass (Da):29,053
Checksum:iE35362CADF3127B0
GO

Sequence cautioni

The sequence CAA04633 differs from that shown. Reason: Frameshift at positions 8, 11 and 17.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti12A → P in CAA04633 (PubMed:9661659).Curated1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_04470879 – 148HNVKP…LRENK → KRCCQRFTKINTTLVLWWGL GTRGMASRTKL in isoform 2. 1 PublicationAdd BLAST70

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF029786 mRNA. Translation: AAC29002.1.
AJ001259 mRNA. Translation: CAA04633.1. Frameshift.
BT007112 mRNA. Translation: AAP35776.1.
AK097049 mRNA. No translation available.
CR407612 mRNA. Translation: CAG28540.1.
AC092579 Genomic DNA. No translation available.
CH471140 Genomic DNA. Translation: EAX07966.1.
CH471140 Genomic DNA. Translation: EAX07967.1.
BC000732 mRNA. Translation: AAH00732.1.
BC001837 mRNA. Translation: AAH01837.1.
BC030821 mRNA. Translation: AAH30821.1.
CCDSiCCDS5521.1. [O75323-1]
CCDS56488.1. [O75323-2]
RefSeqiNP_001189398.1. NM_001202469.1. [O75323-2]
NP_001474.1. NM_001483.2. [O75323-1]
UniGeneiHs.591069.

Genome annotation databases

EnsembliENST00000322090; ENSP00000313050; ENSG00000146729. [O75323-1]
ENST00000446778; ENSP00000406855; ENSG00000146729. [O75323-2]
GeneIDi2631.
KEGGihsa:2631.
UCSCiuc003tre.3. human. [O75323-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Entry informationi

Entry nameiNIPS2_HUMAN
AccessioniPrimary (citable) accession number: O75323
Secondary accession number(s): C9IYJ3, O43801, Q53X96
Entry historyiIntegrated into UniProtKB/Swiss-Prot: September 26, 2001
Last sequence update: November 1, 1998
Last modified: November 22, 2017
This is version 144 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 7
    Human chromosome 7: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. SIMILARITY comments
    Index of protein domains and families