Reviewed, UniProtKB/Swiss-Prot O14893 (GEMI2_HUMAN)

Names and origin

Protein names

Recommended name:
    Survival of motor neuron protein-interacting protein 1
      Short name=SMN-interacting protein 1
Alternative name(s):
    Component of gems 2
    Gemin-2

Gene names

Name:	SIP1
Synonyms:	GEMIN2

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	280 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is not processed.
Protein existence	Evidence at protein level.

General annotation (Comments)

Function	The SMN complex plays an essential role in spliceosomal snRNP assembly in the cytoplasm and is required for pre-mRNA splicing in the nucleus.
Subunit structure	Part of the core SMN complex that contains SMN1, SIP1/GEMIN2, DDX20/GEMIN3, GEMIN4, GEMIN5, GEMIN6, GEMIN7, GEMIN8 and STRAP/UNRIP. Interacts directly with GEMIN5.
Subcellular location	Nucleus › gem. Cytoplasm. Note= Localized in subnuclear structures next to coiled bodies, called gems, which are highly enriched in spliceosomal snRNPs. Also found in the cytoplasm.

Ontologies

Keywords
Biological process	mRNA processing mRNA splicing
Cellular component	Cytoplasm Nucleus Spliceosome
Coding sequence diversity	Alternative splicing
PTM	Phosphoprotein
Gene Ontology (GO)
Biological process	spliceosomal snRNP biogenesis Inferred from Experiment. Source: Reactome spliceosome assembly Ref.1 Traceable author statement. Source: ProtInc
Cellular component	cytosol Inferred from Experiment. Source: Reactome nucleoplasm Inferred from Experiment. Source: Reactome spliceosome Ref.1 Traceable author statement. Source: ProtInc
Molecular function	RNA splicing factor activity, transesterification mechanism Ref.1 Traceable author statement. Source: UniProtKB protein binding Ref.5 Inferred from physical interaction. Source: UniProtKB
Complete GO annotation...

Binary interactions

With	Entry	#Exp.	IntAct	Notes
RNPS1	Q15287	1	EBI-443648,EBI-395959

Alternative products

This entry describes 4 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: O14893-1)

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.

Isoform 2 (identifier: O14893-2)

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

Isoform 3 (identifier: O14893-3)

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

Isoform 4 (identifier: O14893-4)

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

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 280	280	Survival of motor neuron protein-interacting protein 1		PRO_0000087455
Regions
	Compositional bias	101 – 106	6	Poly-Gln
Amino acid modifications
	Modified residue	48	1	Phosphothreonine
Natural variations
	Alternative sequence	31 – 44	14	VEPCD…FDPSV → DRSSSMSRCCGSSN in isoform 4.		VSP_013543
	Alternative sequence	45 – 280	236	Missing in isoform 4.		VSP_013544
	Alternative sequence	173 – 187	15	Missing in isoform 2.		VSP_013545
	Alternative sequence	249 – 250	2	DS → VF in isoform 3.		VSP_013546
	Alternative sequence	251 – 280	30	Missing in isoform 3.		VSP_013547

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified January 1, 1998. Version 1. Checksum: 3232F410EA98EB81	FASTA	280	31,585
	10 20 30 40 50 60 MRRAELAGLK TMAWVPAESA VEELMPRLLP VEPCDLTEGF DPSVPPRTPQ EYLRRVQIEA 70 80 90 100 110 120 AQCPDVVVAQ IDPKKLKRKQ SVNISLSGCQ PAPEGYSPTL QWQQQQVAQF STVRQNVNKH 130 140 150 160 170 180 RSHWKSQQLD SNVTMPKSED EEGWKKFCLG EKLCADGAVG PATNESPGID YVQIGFPPLL 190 200 210 220 230 240 SIVSRMNQAT VTSVLEYLSN WFGERDFTPE LGRWLYALLA CLEKPLLPEA HSLIRQLARR 250 260 270 280 CSEVRLLVDS KDDERVPALN LLICLVSRYF DQRDLADEPS
	Isoform 2 [UniParc]. Checksum: FE91C496F663B825		265	29,931
	10 20 30 40 50 60 MRRAELAGLK TMAWVPAESA VEELMPRLLP VEPCDLTEGF DPSVPPRTPQ EYLRRVQIEA 70 80 90 100 110 120 AQCPDVVVAQ IDPKKLKRKQ SVNISLSGCQ PAPEGYSPTL QWQQQQVAQF STVRQNVNKH 130 140 150 160 170 180 RSHWKSQQLD SNVTMPKSED EEGWKKFCLG EKLCADGAVG PATNESPGID YVQATVTSVL 190 200 210 220 230 240 EYLSNWFGER DFTPELGRWL YALLACLEKP LLPEAHSLIR QLARRCSEVR LLVDSKDDER 250 260 VPALNLLICL VSRYFDQRDL ADEPS
	Isoform 3 [UniParc]. Checksum: 4DD0F378D5B7C837		250	28,155
	10 20 30 40 50 60 MRRAELAGLK TMAWVPAESA VEELMPRLLP VEPCDLTEGF DPSVPPRTPQ EYLRRVQIEA 70 80 90 100 110 120 AQCPDVVVAQ IDPKKLKRKQ SVNISLSGCQ PAPEGYSPTL QWQQQQVAQF STVRQNVNKH 130 140 150 160 170 180 RSHWKSQQLD SNVTMPKSED EEGWKKFCLG EKLCADGAVG PATNESPGID YVQIGFPPLL 190 200 210 220 230 240 SIVSRMNQAT VTSVLEYLSN WFGERDFTPE LGRWLYALLA CLEKPLLPEA HSLIRQLARR 250 CSEVRLLVVF
	Isoform 4 [UniParc]. Checksum: A7BE4D4FDDE48411		44	4,826
	10 20 30 40 MRRAELAGLK TMAWVPAESA VEELMPRLLP DRSSSMSRCC GSSN

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"The spinal muscular atrophy disease gene product, SMN, and its associated protein SIP1 are in a complex with spliceosomal snRNP proteins." Liu Q., Fischer U., Wang F., Dreyfuss G. Cell 90:1013-1021(1997) [PubMed: 9323129] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1). Tissue: Mammary cancer.
[2]	"Increased expression level of the splicing variant of SIP1 in motor neuron diseases." Aerbajinai W., Ishihara T., Arahata K., Tsukahara T. Int. J. Biochem. Cell Biol. 34:699-707(2002) [PubMed: 11943600] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 2; 3 AND 4). Tissue: Spinal cord.
[3]	"An essential SMN interacting protein (SIP1) is not involved in the phenotypic variability of spinal muscular atrophy (SMA)." Helmken C., Wetter A., Rudnik-Schoeneborn S., Liehr T., Zerres K., Wirth B. Eur. J. Hum. Genet. 8:493-499(2000) [PubMed: 10909848] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
[4]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). Tissue: Brain.
[5]	"Gemin5, a novel WD repeat protein component of the SMN complex that binds Sm proteins." Gubitz A.K., Mourelatos Z., Abel L., Rappsilber J., Mann M., Dreyfuss G. J. Biol. Chem. 277:5631-5636(2002) [PubMed: 11714716] [Abstract] Cited for: INTERACTION WITH GEMIN5 AND THE SMN COMPLEX.
[6]	"Combining protein-based IMAC, peptide-based IMAC, and MudPIT for efficient phosphoproteomic analysis." Cantin G.T., Yi W., Lu B., Park S.K., Xu T., Lee J.-D., Yates J.R. III J. Proteome Res. 7:1346-1351(2008) [PubMed: 18220336] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-48, MASS SPECTROMETRY.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBLGenBankDDBJ	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. BC104968 mRNA. Translation: AAI04969.1.
RefSeq	NP_001009182.1. NP_001009183.1. NP_003607.1.
UniGene	Hs.652307
3D structure databases
ModBase	Search...
Protein-protein interaction databases
IntAct	O14893.
PTM databases
PhosphoSite	O14893.
Genome annotation databases
Ensembl	ENSG00000092208. Homo sapiens. [Contig view]
GeneID	8487.
KEGG	hsa:8487.
Organism-specific databases
H-InvDB	HIX0037641.
HGNC	HGNC:10884. SIP1.
HPA	CAB015426.
MIM	602595. gene.
PharmGKB	PA142671750.
GenAtlas	Search...
GeneCards	Search...
Phylogenomic databases
HOGENOM	O14893.
HOVERGEN	O14893.
Enzyme and pathway databases
Reactome	REACT_11052. Metabolism of non-coding RNA.
Gene expression databases
ArrayExpress	O14893.
CleanEx	HS_SIP1.
GermOnline	ENSG00000092208. Homo sapiens.
Family and domain databases
InterPro	IPR007022. SIP1. IPR017364. Survival_motor_neuron_Gemin2. [Graphical view]
PANTHER	PTHR12794. SIP1. 1 hit.
Pfam	PF04938. SIP1. 1 hit. [Graphical view]
PIRSF	PIRSF038038. SMN_Gemin2. 1 hit.
ProtoNet	Search...
Other Resources
LinkHub	O14893.
NextBio	31751.
SOURCE	Search...

Entry information

Entry name

GEMI2_HUMAN

Accession

Primary (citable) accession number: O14893
Secondary accession number(s): Q2M3B3 , Q9H4F5, Q9NS77, Q9NS78, Q9NS79

Entry history

Integrated into UniProtKB/Swiss-Prot:	July 15, 1999
Last sequence update:	January 1, 1998
Last modified:	November 25, 2008
This is version 72 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)