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UniProtKB - O14893 (GEMI2_HUMAN)

Protein

Gem-associated protein 2

Gene

GEMIN2

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

Functioni

The SMN complex plays a catalyst role in the assembly of small nuclear ribonucleoproteins (snRNPs), the building blocks of the spliceosome. Thereby, plays an important role in the splicing of cellular pre-mRNAs. Most spliceosomal snRNPs contain a common set of Sm proteins SNRPB, SNRPD1, SNRPD2, SNRPD3, SNRPE, SNRPF and SNRPG that assemble in a heptameric protein ring on the Sm site of the small nuclear RNA to form the core snRNP. In the cytosol, the Sm proteins SNRPD1, SNRPD2, SNRPE, SNRPF and SNRPG are trapped in an inactive 6S pICln-Sm complex by the chaperone CLNS1A that controls the assembly of the core snRNP. Dissociation by the SMN complex of CLNS1A from the trapped Sm proteins and their transfer to an SMN-Sm complex triggers the assembly of core snRNPs and their transport to the nucleus.2 Publications

Caution

It is uncertain whether Met-1 or Met-12 is the initiator.Curated

GO - Biological processi

  • import into nucleus Source: Reactome
  • mRNA processing Source: ProtInc
  • RNA splicing Source: UniProtKB
  • RNA splicing, via transesterification reactions Source: UniProtKB
  • spliceosomal complex assembly Source: ProtInc
  • spliceosomal snRNP assembly Source: UniProtKB
View the complete GO annotation on QuickGO ...

Keywordsi

Biological processmRNA processing, mRNA splicing

Enzyme and pathway databases

ReactomeiR-HSA-191859 snRNP Assembly
SIGNORiO14893

Names & Taxonomyi

Protein namesi
Recommended name:
Gem-associated protein 2
Short name:
Gemin-2
Alternative name(s):
Component of gems 2
Survival of motor neuron protein-interacting protein 1
Short name:
SMN-interacting protein 1
Gene namesi
Name:GEMIN2
Synonyms:SIP1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 14

Organism-specific databases

EuPathDBiHostDB:ENSG00000092208.16
HGNCiHGNC:10884 GEMIN2
MIMi602595 gene
neXtProtiNX_O14893

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, Nucleus

Pathology & Biotechi

Organism-specific databases

DisGeNETi8487
GeneReviewsiGEMIN2
MalaCardsiGEMIN2
OpenTargetsiENSG00000092208
PharmGKBiPA35784

Polymorphism and mutation databases

BioMutaiGEMIN2

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000874551 – 280Gem-associated protein 2Add BLAST280

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei81PhosphoserineCombined sources1
Modified residuei166PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiO14893
MaxQBiO14893
PaxDbiO14893
PeptideAtlasiO14893
PRIDEiO14893
ProteomicsDBi48281
48282 [O14893-2]
48283 [O14893-3]
48284 [O14893-4]

PTM databases

iPTMnetiO14893
PhosphoSitePlusiO14893

Expressioni

Gene expression databases

BgeeiENSG00000092208 Expressed in 215 organ(s), highest expression level in buccal mucosa cell
CleanExiHS_SIP1
ExpressionAtlasiO14893 baseline and differential
GenevisibleiO14893 HS

Organism-specific databases

HPAiCAB015426
HPA046570
HPA057114

Interactioni

Subunit structurei

Part of the core SMN complex that contains SMN1, GEMIN2/SIP1, DDX20/GEMIN3, GEMIN4, GEMIN5, GEMIN6, GEMIN7, GEMIN8 and STRAP/UNRIP. Part of the SMN-Sm complex that contains SMN1, GEMIN2/SIP1, DDX20/GEMIN3, GEMIN4, GEMIN5, GEMIN6, GEMIN7, GEMIN8, STRAP/UNRIP and the Sm proteins SNRPB, SNRPD1, SNRPD2, SNRPD3, SNRPE, SNRPF and SNRPG. Interacts directly with GEMIN5.3 Publications

Binary interactionsi

Protein-protein interaction databases

BioGridi114059, 79 interactors
CORUMiO14893
DIPiDIP-32605N
IntActiO14893, 40 interactors
MINTiO14893
STRINGi9606.ENSP00000308533

Structurei

Secondary structure

1280
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliO14893
SMRiO14893
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi101 – 106Poly-Gln6

Sequence similaritiesi

Belongs to the gemin-2 family.Curated

Phylogenomic databases

eggNOGiENOG410IJ8K Eukaryota
ENOG410YM8D LUCA
GeneTreeiENSGT00390000013814
HOVERGENiHBG051719
InParanoidiO14893
KOiK13130
OMAiEMLSKWL
OrthoDBiEOG091G0NM1
PhylomeDBiO14893
TreeFamiTF105864

Family and domain databases

InterProiView protein in InterPro
IPR017364 GEMIN2
IPR035426 Gemin2/Brr1
PfamiView protein in Pfam
PF04938 SIP1, 1 hit
PIRSFiPIRSF038038 SMN_Gemin2, 1 hit

Sequences (4+)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 4 described isoforms and 5 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: O14893-1) [UniParc]FASTAAdd to basket
Also known as: SIP1-alpha

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
MRRAELAGLK TMAWVPAESA VEELMPRLLP VEPCDLTEGF DPSVPPRTPQ 
        60         70         80         90        100
EYLRRVQIEA AQCPDVVVAQ IDPKKLKRKQ SVNISLSGCQ PAPEGYSPTL 
       110        120        130        140        150
QWQQQQVAQF STVRQNVNKH RSHWKSQQLD SNVTMPKSED EEGWKKFCLG 
       160        170        180        190        200
EKLCADGAVG PATNESPGID YVQIGFPPLL SIVSRMNQAT VTSVLEYLSN 
       210        220        230        240        250
WFGERDFTPE LGRWLYALLA CLEKPLLPEA HSLIRQLARR CSEVRLLVDS 
       260        270        280
KDDERVPALN LLICLVSRYF DQRDLADEPS
Length:280
Mass (Da):31,585
Last modified:January 1, 1998 - v1
Checksum:i3232F410EA98EB81
GO
Isoform 2 (identifier: O14893-2) [UniParc]FASTAAdd to basket
Also known as: SIP1-beta

The sequence of this isoform differs from the canonical sequence as follows:
     173-187: Missing.

Show »
Length:265
Mass (Da):29,931
Checksum:iFE91C496F663B825
GO
Isoform 3 (identifier: O14893-3) [UniParc]FASTAAdd to basket
Also known as: SIP1-gamma

The sequence of this isoform differs from the canonical sequence as follows:
     249-250: DS → VF
     251-280: Missing.

Show »
Length:250
Mass (Da):28,155
Checksum:i4DD0F378D5B7C837
GO
Isoform 4 (identifier: O14893-4) [UniParc]FASTAAdd to basket
Also known as: SIP1-delta

The sequence of this isoform differs from the canonical sequence as follows:
     31-44: VEPCDLTEGFDPSV → DRSSSMSRCCGSSN
     45-280: Missing.

Show »
Length:44
Mass (Da):4,826
Checksum:iA7BE4D4FDDE48411
GO

Computationally mapped potential isoform sequencesi

There are 5 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H0YEL0H0YEL0_HUMAN
Gem-associated protein 2
GEMIN2
220Annotation score:
G5EA29G5EA29_HUMAN
Gem-associated protein 2
GEMIN2 SIP1, hCG_21235
149Annotation score:
H0YDP6H0YDP6_HUMAN
Gem-associated protein 2
GEMIN2
197Annotation score:
S4R421S4R421_HUMAN
Gem-associated protein 2
GEMIN2
22Annotation score:
H0YCF4H0YCF4_HUMAN
Gem-associated protein 2
GEMIN2
45Annotation score:

Sequence cautioni

The sequence CAC16117 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_01354331 – 44VEPCD…FDPSV → DRSSSMSRCCGSSN in isoform 4. 1 PublicationAdd BLAST14
Alternative sequenceiVSP_01354445 – 280Missing in isoform 4. 1 PublicationAdd BLAST236
Alternative sequenceiVSP_013545173 – 187Missing in isoform 2. 1 PublicationAdd BLAST15
Alternative sequenceiVSP_013546249 – 250DS → VF in isoform 3. 1 Publication2
Alternative sequenceiVSP_013547251 – 280Missing in isoform 3. 1 PublicationAdd BLAST30

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF027150 mRNA Translation: AAB82297.1
AB037701 mRNA Translation: BAB03508.1
AB037702 mRNA Translation: BAB03509.1
AB037703 mRNA Translation: BAB03510.1
AJ250932
, AJ250933, AJ250934, AJ250935, AJ250936, AJ250937, AJ250938, AJ250939 Genomic DNA Translation: CAC16117.2 Different initiation.
AK313947 mRNA Translation: BAG36665.1
BC104968 mRNA Translation: AAI04969.1
CCDSiCCDS32068.1 [O14893-2]
CCDS41946.1 [O14893-3]
CCDS9669.1 [O14893-1]
RefSeqiNP_001009182.1, NM_001009182.1 [O14893-2]
NP_001009183.1, NM_001009183.1 [O14893-3]
NP_003607.1, NM_003616.2 [O14893-1]
UniGeneiHs.652307

Genome annotation databases

EnsembliENST00000250379; ENSP00000250379; ENSG00000092208 [O14893-2]
ENST00000308317; ENSP00000308533; ENSG00000092208 [O14893-1]
ENST00000396249; ENSP00000379548; ENSG00000092208 [O14893-3]
ENST00000412033; ENSP00000416827; ENSG00000092208 [O14893-4]
GeneIDi8487
KEGGihsa:8487
UCSCiuc001wuq.4 human [O14893-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF027150 mRNA Translation: AAB82297.1
AB037701 mRNA Translation: BAB03508.1
AB037702 mRNA Translation: BAB03509.1
AB037703 mRNA Translation: BAB03510.1
AJ250932
, AJ250933, AJ250934, AJ250935, AJ250936, AJ250937, AJ250938, AJ250939 Genomic DNA Translation: CAC16117.2 Different initiation.
AK313947 mRNA Translation: BAG36665.1
BC104968 mRNA Translation: AAI04969.1
CCDSiCCDS32068.1 [O14893-2]
CCDS41946.1 [O14893-3]
CCDS9669.1 [O14893-1]
RefSeqiNP_001009182.1, NM_001009182.1 [O14893-2]
NP_001009183.1, NM_001009183.1 [O14893-3]
NP_003607.1, NM_003616.2 [O14893-1]
UniGeneiHs.652307

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2LEHNMR-A95-280[»]
5XJLX-ray2.5021-280[»]
5XJQX-ray3.2821-280[»]
5XJRX-ray3.12240-280[»]
5XJSX-ray3.38240-280[»]
5XJTX-ray2.9221-280[»]
5XJUX-ray2.58240-280[»]
ProteinModelPortaliO14893
SMRiO14893
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi114059, 79 interactors
CORUMiO14893
DIPiDIP-32605N
IntActiO14893, 40 interactors
MINTiO14893
STRINGi9606.ENSP00000308533

PTM databases

iPTMnetiO14893
PhosphoSitePlusiO14893

Polymorphism and mutation databases

BioMutaiGEMIN2

Proteomic databases

EPDiO14893
MaxQBiO14893
PaxDbiO14893
PeptideAtlasiO14893
PRIDEiO14893
ProteomicsDBi48281
48282 [O14893-2]
48283 [O14893-3]
48284 [O14893-4]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000250379; ENSP00000250379; ENSG00000092208 [O14893-2]
ENST00000308317; ENSP00000308533; ENSG00000092208 [O14893-1]
ENST00000396249; ENSP00000379548; ENSG00000092208 [O14893-3]
ENST00000412033; ENSP00000416827; ENSG00000092208 [O14893-4]
GeneIDi8487
KEGGihsa:8487
UCSCiuc001wuq.4 human [O14893-1]

Organism-specific databases

CTDi8487
DisGeNETi8487
EuPathDBiHostDB:ENSG00000092208.16
GeneCardsiGEMIN2
GeneReviewsiGEMIN2
HGNCiHGNC:10884 GEMIN2
HPAiCAB015426
HPA046570
HPA057114
MalaCardsiGEMIN2
MIMi602595 gene
neXtProtiNX_O14893
OpenTargetsiENSG00000092208
PharmGKBiPA35784
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IJ8K Eukaryota
ENOG410YM8D LUCA
GeneTreeiENSGT00390000013814
HOVERGENiHBG051719
InParanoidiO14893
KOiK13130
OMAiEMLSKWL
OrthoDBiEOG091G0NM1
PhylomeDBiO14893
TreeFamiTF105864

Enzyme and pathway databases

ReactomeiR-HSA-191859 snRNP Assembly
SIGNORiO14893

Miscellaneous databases

ChiTaRSiGEMIN2 human
GenomeRNAii8487
PROiPR:O14893
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000092208 Expressed in 215 organ(s), highest expression level in buccal mucosa cell
CleanExiHS_SIP1
ExpressionAtlasiO14893 baseline and differential
GenevisibleiO14893 HS

Family and domain databases

InterProiView protein in InterPro
IPR017364 GEMIN2
IPR035426 Gemin2/Brr1
PfamiView protein in Pfam
PF04938 SIP1, 1 hit
PIRSFiPIRSF038038 SMN_Gemin2, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiGEMI2_HUMAN
AccessioniPrimary (citable) accession number: O14893
Secondary accession number(s): B2R9W8
, Q2M3B3, Q9H4F5, Q9NS77, Q9NS78, Q9NS79
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 15, 1999
Last sequence update: January 1, 1998
Last modified: November 7, 2018
This is version 169 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

3D-structure, 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. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  4. Human chromosome 14
    Human chromosome 14: entries, gene names and cross-references to MIM
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