Q9H840 (GEMI7_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Gem-associated protein 7
Short name=Gemin-7

Alternative name(s):
SIP3

Gene names

Name:

GEMIN7

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	131 AA.
Sequence status	Complete.
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. Ref.1
Subunit structure	Part of the core SMN complex that contains SMN1, GEMIN2/SIP1, DDX20/GEMIN3, GEMIN4, GEMIN5, GEMIN6, GEMIN7, GEMIN8 and STRAP/UNRIP. Interacts directly with GEMIN6, SNRPB, SNRPD2, SNRPD3 and SNRPE. Ref.1 Ref.7
Subcellular location	Nucleus › nucleoplasm. Nucleus › gem. Cytoplasm. Note: Found both in the nucleoplasm and in nuclear bodies called gems (Gemini of Cajal bodies) that are often in proximity to Cajal (coiled) bodies. Also found in the cytoplasm. Ref.1
Sequence similarities	Belongs to the gemin-7 family.

Ontologies

Keywords
Biological process	mRNA processing mRNA splicing
Cellular component	Cytoplasm Nucleus Spliceosome
Technical term	3D-structure Complete proteome Direct protein sequencing Reference proteome
Gene Ontology (GO)
Biological_process	ncRNA metabolic process Traceable author statement. Source: Reactome spliceosomal snRNP assembly Traceable author statement Ref.1. Source: UniProtKB
Cellular_component	Cajal body Inferred from electronic annotation. Source: UniProtKB-SubCell SMN complex Inferred from electronic annotation. Source: InterPro cytosol Traceable author statement. Source: Reactome nuclear body Inferred from direct assay Ref.1. Source: UniProtKB spliceosomal complex Inferred from electronic annotation. Source: UniProtKB-KW
Complete GO annotation...

Sequence annotation (Features)

Feature key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Chain

1 – 131

131

Gem-associated protein 7

PRO_0000087462

Secondary structure

1

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131

Helix Strand Turn

Details...

Helix

51 – 73

23

Beta strand

76 – 82

7

Helix

83 – 85

3

Beta strand

87 – 95

9

Beta strand

101 – 107

7

Beta strand

114 – 120

7

Helix

121 – 123

3

Beta strand

124 – 129

6

Sequences

	Sequence		Length	Mass (Da)
	Q9H840 [UniParc]. Last modified March 1, 2001. Version 1. Checksum: 6E118922AFDCF567	FASTA	131	14,537
	10 20 30 40 50 60 MQTPVNIPVP VLRLPRGPDG FSRGFAPDGR RAPLRPEVPE IQECPIAQES LESQEQRARA 70 80 90 100 110 120 ALRERYLRSL LAMVGHQVSF TLHEGVRVAA HFGATDLDVA NFYVSQLQTP IGVQAEALLR 130 CSDIISYTFK P

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Identification and characterization of Gemin7, a novel component of the survival of motor neuron complex." Baccon J., Pellizzoni L., Rappsilber J., Mann M., Dreyfuss G. J. Biol. Chem. 277:31957-31962(2002) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], PROTEIN SEQUENCE OF 30-57, FUNCTION, INTERACTION WITH SMN1; GEMIN6; SNRPB; SNRPD2; SNRPD3 AND SNRPE, SUBCELLULAR LOCATION.
[2]	"Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S. Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Retinoblastoma.
[3]	"Cloning of human full open reading frames in Gateway(TM) system entry vector (pDONR201)." Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B. Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
[4]	Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]	"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] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Uterus.
[6]	"Initial characterization of the human central proteome." Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J. BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[7]	"The Gemin6-Gemin7 heterodimer from the survival of motor neurons complex has an Sm protein-like structure." Ma Y., Dostie J., Dreyfuss G., Van Duyne G.D. Structure 13:883-892(2005) [PubMed] [Europe PMC] [Abstract] Cited for: X-RAY CRYSTALLOGRAPHY (2.0 ANGSTROMS) OF 47-131 IN COMPLEX WITH GEMIN6, INTERACTION WITH SNRPB; SNRPD2; SNRPD3 AND SNRPE.
+	Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ

AY114106 mRNA. Translation: AAM44083.1.
AK024018 mRNA. Translation: BAB14780.1.
CR457321 mRNA. Translation: CAG33602.1.
CH471126 Genomic DNA. Translation: EAW57321.1.
BC007793 mRNA. Translation: AAH07793.1.

IPI

IPI00003027.

RefSeq

NP_001007270.1. NM_001007269.1.
NP_001007271.1. NM_001007270.1.
NP_078983.1. NM_024707.2.

UniGene

Hs.466919.

3D structure databases

PDBe
RCSB PDB
PDBj

Entry	Method	Resolution (Å)	Chain	Positions	PDBsum
1Y96	X-ray	2.00	B/D	47-131	[»]

ProteinModelPortal

Q9H840.

ModBase

Search...

Protein-protein interaction databases

DIP

DIP-41750N.

IntAct

Q9H840. 5 interactions.

MINT

MINT-240374.

STRING

9606.ENSP00000270257.

PTM databases

PhosphoSite

Q9H840.

Polymorphism databases

DMDM

34922127.

Proteomic databases

PaxDb

Q9H840.

PeptideAtlas

Q9H840.

PRIDE

Q9H840.

Protocols and materials databases

StructuralBiologyKnowledgebase

Search...

Genome annotation databases

Ensembl

ENST00000270257; ENSP00000270257; ENSG00000142252.
ENST00000391951; ENSP00000375813; ENSG00000142252.
ENST00000591607; ENSP00000466342; ENSG00000142252.
ENST00000591747; ENSP00000465704; ENSG00000142252.

GeneID

79760.

KEGG

hsa:79760.

UCSC

uc002pap.1. human.

Organism-specific databases

CTD

79760.

GeneCards

GC19P045582.

HGNC

HGNC:20045. GEMIN7.

MIM

607419. gene.

neXtProt

NX_Q9H840.

PharmGKB

PA134959810.

GenAtlas

Search...

Phylogenomic databases

eggNOG

NOG40574.

HOGENOM

HOG000112710.

HOVERGEN

HBG051723.

InParanoid

Q9H840.

KO

K13135.

OMA

TLHEGVH.

OrthoDB

EOG470TJR.

PhylomeDB

Q9H840.

Enzyme and pathway databases

Reactome

REACT_21257. Metabolism of RNA.
REACT_71. Gene Expression.

Gene expression databases

Bgee

Q9H840.

CleanEx

HS_GEMIN7.

Genevestigator

Q9H840.

GermOnline

ENSG00000142252. Homo sapiens.

Family and domain databases

InterPro

IPR020338. SMN_gemin7.
[Graphical view]

Pfam

PF11095. Gemin7. 1 hit.
[Graphical view]

ProDom

PD296126. SMN_cplx_gem-assoc_protein_7. 1 hit.
[Graphical view] [Entries sharing at least one domain]

ProtoNet

Search...

Other

EvolutionaryTrace

Q9H840.

GenomeRNAi

79760.

NextBio

69225.

SOURCE

Search...

Entry information

Entry name

GEMI7_HUMAN

Accession

Primary (citable) accession number: Q9H840
Secondary accession number(s): Q6IA34

Entry history

Integrated into UniProtKB/Swiss-Prot:	September 19, 2003
Last sequence update:	March 1, 2001
Last modified:	May 1, 2013
This is version 98 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.