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Protein

Protein NipSnap homolog 2

Gene

NIPSNAP2

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

Functioni

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

GO - Biological processi

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
MIMi603004 gene
neXtProtiNX_O75323

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
ProteomicsDBi49893

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 Expressed in 230 organ(s), highest expression level in vastus lateralis
CleanExiHS_GBAS
ExpressionAtlasiO75323 baseline and differential
GenevisibleiO75323 HS

Organism-specific databases

HPAiHPA063084

Interactioni

Subunit structurei

Interacts with VDAC1.1 Publication

Binary interactionsi

Protein-protein interaction databases

BioGridi108901, 57 interactors
DIPiDIP-33564N
IntActiO75323, 47 interactors
MINTiO75323
STRINGi9606.ENSP00000313050

Structurei

3D structure databases

ProteinModelPortaliO75323
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the NipSnap family.Curated

Phylogenomic databases

eggNOGiKOG2883 Eukaryota
ENOG410XSWP LUCA
GeneTreeiENSGT00730000110910
HOGENOMiHOG000194298
HOVERGENiHBG052627
InParanoidiO75323
OMAiRQDSNEA
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

This entry has 2 described isoforms and 4 potential isoforms that are computationally mapped.Show allAlign All

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

Computationally mapped potential isoform sequencesi

There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H7C333H7C333_HUMAN
Protein NipSnap homolog 2
NIPSNAP2
114Annotation score:
C9K068C9K068_HUMAN
Protein NipSnap homolog 2
NIPSNAP2
80Annotation score:
C9J7B1C9J7B1_HUMAN
Protein NipSnap homolog 2
NIPSNAP2
65Annotation score:
F8WBI5F8WBI5_HUMAN
Protein NipSnap homolog 2
NIPSNAP2
145Annotation score:

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

Cross-referencesi

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

3D structure databases

ProteinModelPortaliO75323
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi108901, 57 interactors
DIPiDIP-33564N
IntActiO75323, 47 interactors
MINTiO75323
STRINGi9606.ENSP00000313050

PTM databases

iPTMnetiO75323
PhosphoSitePlusiO75323
SwissPalmiO75323

Polymorphism and mutation databases

BioMutaiGBAS

2D gel databases

UCD-2DPAGEiO75323

Proteomic databases

EPDiO75323
MaxQBiO75323
PaxDbiO75323
PeptideAtlasiO75323
PRIDEiO75323
ProteomicsDBi49893

Protocols and materials databases

DNASUi2631
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi2631
EuPathDBiHostDB:ENSG00000146729.9
GeneCardsiNIPSNAP2
HGNCiHGNC:4179 NIPSNAP2
HPAiHPA063084
MIMi603004 gene
neXtProtiNX_O75323
OpenTargetsiENSG00000146729
PharmGKBiPA28593
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2883 Eukaryota
ENOG410XSWP LUCA
GeneTreeiENSGT00730000110910
HOGENOMiHOG000194298
HOVERGENiHBG052627
InParanoidiO75323
OMAiRQDSNEA
OrthoDBiEOG091G0G3J
PhylomeDBiO75323
TreeFamiTF314501

Miscellaneous databases

ChiTaRSiGBAS human
GeneWikiiGBAS_(gene)
GenomeRNAii2631
PROiPR:O75323
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000146729 Expressed in 230 organ(s), highest expression level in vastus lateralis
CleanExiHS_GBAS
ExpressionAtlasiO75323 baseline and differential
GenevisibleiO75323 HS

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
ProtoNetiSearch...

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 7, 2018
This is version 152 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. SIMILARITY comments
    Index of protein domains and families
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. Human chromosome 7
    Human chromosome 7: entries, gene names and cross-references to MIM
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Main funding by: National Institutes of Health

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