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Entry version 163 (16 Oct 2019)
Sequence version 2 (08 Feb 2011)
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Protein

Gem-associated protein 4

Gene

GEMIN4

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>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.1 Publication

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Biological processmRNA processing, mRNA splicing

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

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Reactomei
R-HSA-191859 snRNP Assembly

SIGNOR Signaling Network Open Resource

More...
SIGNORi
P57678

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Gem-associated protein 4
Short name:
Gemin-4
Alternative name(s):
Component of gems 4
p97
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:GEMIN4
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 17

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:15717 GEMIN4

Online Mendelian Inheritance in Man (OMIM)

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MIMi
606969 gene

neXtProt; the human protein knowledge platform

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neXtProti
NX_P57678

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>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 & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Nucleus

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities (NEDMCR)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive, severe neurodevelopmental disorder characterized by global developmental delay since infancy, microcephaly, poor or absent speech, and inability to walk or spasticity. Additional features include renal abnormalities, congenital cataracts, gastroesophageal reflux disease, seizures with onset in infancy or childhood, hyporeflexia, and non-specific white matter abnormalities on brain imaging.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_082144105P → L in NEDMCR; unknown pathological significance. 1 Publication1
Natural variantiVAR_080610818W → R in NEDMCR; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs730882219EnsemblClinVar.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
50628

MalaCards human disease database

More...
MalaCardsi
GEMIN4
MIMi617913 phenotype

Open Targets

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OpenTargetsi
ENSG00000179409

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

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Pharosi
P57678

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

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BioMutai
GEMIN4

Domain mapping of disease mutations (DMDM)

More...
DMDMi
322510030

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000874591 – 1058Gem-associated protein 4Add BLAST1058

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei1N-acetylmethionineCombined sources1
Modified residuei84PhosphothreonineCombined sources1
Modified residuei86PhosphoserineCombined sources1
Modified residuei205PhosphoserineCombined sources1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
P57678

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
P57678

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
P57678

MaxQB - The MaxQuant DataBase

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MaxQBi
P57678

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
P57678

PeptideAtlas

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PeptideAtlasi
P57678

PRoteomics IDEntifications database

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PRIDEi
P57678

ProteomicsDB: a multi-organism proteome resource

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ProteomicsDBi
57005

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
P57678

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

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PhosphoSitePlusi
P57678

SwissPalm database of S-palmitoylation events

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SwissPalmi
P57678

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000179409 Expressed in 197 organ(s), highest expression level in testis

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
P57678 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
P57678 HS

Organism-specific databases

Human Protein Atlas

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HPAi
HPA065699
HPA067891

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>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 GEMIN3 and with several snRNP SM core proteins, including SNRPB, SNRPD1, SNRPD2, SNRPD3 and SNRPE.

Interacts with PPP4R2.

2 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
119102, 127 interactors

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
P57678

Protein interaction database and analysis system

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IntActi
P57678, 79 interactors

Molecular INTeraction database

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MINTi
P57678

STRING: functional protein association networks

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STRINGi
9606.ENSP00000321706

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
P57678

Database of comparative protein structure models

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ModBasei
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni714 – 735Leucine-zipperSequence analysisAdd BLAST22

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
ENOG410IET3 Eukaryota
ENOG410XYXX LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00390000012296

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000143409

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
P57678

KEGG Orthology (KO)

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KOi
K13132

Identification of Orthologs from Complete Genome Data

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OMAi
EKKWAFS

Database of Orthologous Groups

More...
OrthoDBi
426377at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
P57678

TreeFam database of animal gene trees

More...
TreeFami
TF329445

Family and domain databases

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR033265 GEMIN4

The PANTHER Classification System

More...
PANTHERi
PTHR15571 PTHR15571, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequence (1+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry has 1 described isoform and 6 potential isoforms that are computationally mapped.Show allAlign All

P57678-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MDLGPLNICE EMTILHGGFL LAEQLFHPKA LAELTKSDWE RVGRPIVEAL
60 70 80 90 100
REISSAAAHS QPFAWKKKAL IIIWAKVLQP HPVTPSDTET RWQEDLFFSV
110 120 130 140 150
GNMIPTINHT ILFELLKSLE ASGLFIQLLM ALPTTICHAE LERFLEHVTV
160 170 180 190 200
DTSAEDVAFF LDVWWEVMKH KGHPQDPLLS QFSAMAHKYL PALDEFPHPP
210 220 230 240 250
KRLRSDPDAC PTMPLLAMLL RGLTQIQSRI LGPGRKCCAL ANLADMLTVF
260 270 280 290 300
ALTEDDPQEV SATVYLDKLA TVISVWNSDT QNPYHQQALA EKVKEAERDV
310 320 330 340 350
SLTSLAKLPS ETIFVGCEFL HHLLREWGEE LQAVLRSSQG TSYDSYRLCD
360 370 380 390 400
SLTSFSQNAT LYLNRTSLSK EDRQVVSELA ECVRDFLRKT STVLKNRALE
410 420 430 440 450
DITASIAMAV IQQKMDRHME VCYIFASEKK WAFSDEWVAC LGSNRALFRQ
460 470 480 490 500
PDLVLRLLET VIDVSTADRA IPESQIRQVI HLILECYADL SLPGKNKVLA
510 520 530 540 550
GILRSWGRKG LSEKLLAYVE GFQEDLNTTF NQLTQSASEQ GLAKAVASVA
560 570 580 590 600
RLVIVHPEVT VKKMCSLAVV NLGTHKFLAQ ILTAFPALRF VEEQGPNSSA
610 620 630 640 650
TFMVSCLKET VWMKFSTPKE EKQFLELLNC LMSPVKPQGI PVAALLEPDE
660 670 680 690 700
VLKEFVLPFL RLDVEEVDLS LRIFIQTLEA NACREEYWLQ TCSPFPLLFS
710 720 730 740 750
LCQLLDRFSK YWQLPKEKRC LSLDRKDLAI HILELLCEIV SANAETFSPD
760 770 780 790 800
VWIKSLSWLH RKLEQLDWTV GLRLKSFFEG HFKCEVPATL FEICKLSEDE
810 820 830 840 850
WTSQAHPGYG AGTGLLAWME CCCVSSGISE RMLSLLVVDV GNPEEVRLFS
860 870 880 890 900
KGFLVALVQV MPWCSPQEWQ RLHQLTRRLL EKQLLHVPYS LEYIQFVPLL
910 920 930 940 950
NLKPFAQELQ LSVLFLRTFQ FLCSHSCRDW LPLEGWNHVV KLLCGSLTRL
960 970 980 990 1000
LDSVRAIQAA GPWVQGPEQD LTQEALFVYT QVFCHALHIM AMLHPEVCEP
1010 1020 1030 1040 1050
LYVLALETLT CYETLSKTNP SVSSLLQRAH EQRFLKSIAE GIGPEERRQT

LLQKMSSF
Length:1,058
Mass (Da):120,037
Last modified:February 8, 2011 - v2
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iACEC60EC19EF5081
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 6 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
I3L2C7I3L2C7_HUMAN
Gem-associated protein 4
GEMIN4
1,047Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
I3L399I3L399_HUMAN
Gem-associated protein 4
GEMIN4
296Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
I3L4A4I3L4A4_HUMAN
Gem-associated protein 4
GEMIN4
271Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
I3L4M4I3L4M4_HUMAN
Gem-associated protein 4
GEMIN4
189Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
E7EN12E7EN12_HUMAN
Gem-associated protein 4
GEMIN4
184Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
I3L1J7I3L1J7_HUMAN
Gem-associated protein 4
GEMIN4
70Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti163V → I in AAF35283 (PubMed:10725331).Curated1
Sequence conflicti450Q → E in AAF35283 (PubMed:10725331).Curated1
Sequence conflicti450Q → E in CAB45743 (PubMed:11230166).Curated1
Sequence conflicti593E → V in AAF35283 (PubMed:10725331).Curated1
Sequence conflicti593E → V in CAB45743 (PubMed:11230166).Curated1
Sequence conflicti713Q → P in AAF35283 (PubMed:10725331).Curated1
Sequence conflicti929D → N in AAF35283 (PubMed:10725331).Curated1
Sequence conflicti929D → N in CAB45755 (PubMed:11230166).Curated1
Sequence conflicti929D → N in CAB45743 (PubMed:11230166).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_082144105P → L in NEDMCR; unknown pathological significance. 1 Publication1
Natural variantiVAR_056891182F → L. Corresponds to variant dbSNP:rs34604548Ensembl.1
Natural variantiVAR_056892502I → V. Corresponds to variant dbSNP:rs34616851Ensembl.1
Natural variantiVAR_024317579A → G. Corresponds to variant dbSNP:rs910925Ensembl.1
Natural variantiVAR_021971684R → Q. Corresponds to variant dbSNP:rs3744741Ensembl.1
Natural variantiVAR_056893739I → T. Corresponds to variant dbSNP:rs1062923Ensembl.1
Natural variantiVAR_056894749P → L. Corresponds to variant dbSNP:rs8078660Ensembl.1
Natural variantiVAR_056895782F → L. Corresponds to variant dbSNP:rs34452716Ensembl.1
Natural variantiVAR_080610818W → R in NEDMCR; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs730882219EnsemblClinVar.1
Natural variantiVAR_056896824V → F. Corresponds to variant dbSNP:rs34936176Ensembl.1
Natural variantiVAR_056897913V → I. Corresponds to variant dbSNP:rs34610323Ensembl.1
Natural variantiVAR_0203901033R → C. Corresponds to variant dbSNP:rs7813Ensembl.1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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DDBJi
Links Updated
AF173856 mRNA Translation: AAF35283.1
AC087392 Genomic DNA No translation available.
AL080150 mRNA Translation: CAB45743.3
AL080167 mRNA Translation: CAB45755.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS45559.1

Protein sequence database of the Protein Information Resource

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PIRi
T12535

NCBI Reference Sequences

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RefSeqi
NP_056536.2, NM_015721.2

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000319004; ENSP00000321706; ENSG00000179409

Database of genes from NCBI RefSeq genomes

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GeneIDi
50628

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:50628

UCSC genome browser

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UCSCi
uc002frs.2 human

Keywords - Coding sequence diversityi

Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF173856 mRNA Translation: AAF35283.1
AC087392 Genomic DNA No translation available.
AL080150 mRNA Translation: CAB45743.3
AL080167 mRNA Translation: CAB45755.1
CCDSiCCDS45559.1
PIRiT12535
RefSeqiNP_056536.2, NM_015721.2

3D structure databases

SMRiP57678
ModBaseiSearch...

Protein-protein interaction databases

BioGridi119102, 127 interactors
CORUMiP57678
IntActiP57678, 79 interactors
MINTiP57678
STRINGi9606.ENSP00000321706

PTM databases

iPTMnetiP57678
PhosphoSitePlusiP57678
SwissPalmiP57678

Polymorphism and mutation databases

BioMutaiGEMIN4
DMDMi322510030

Proteomic databases

EPDiP57678
jPOSTiP57678
MassIVEiP57678
MaxQBiP57678
PaxDbiP57678
PeptideAtlasiP57678
PRIDEiP57678
ProteomicsDBi57005

Protocols and materials databases

The DNASU plasmid repository

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DNASUi
50628

Genome annotation databases

EnsembliENST00000319004; ENSP00000321706; ENSG00000179409
GeneIDi50628
KEGGihsa:50628
UCSCiuc002frs.2 human

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
50628
DisGeNETi50628

GeneCards: human genes, protein and diseases

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GeneCardsi
GEMIN4
HGNCiHGNC:15717 GEMIN4
HPAiHPA065699
HPA067891
MalaCardsiGEMIN4
MIMi606969 gene
617913 phenotype
neXtProtiNX_P57678
OpenTargetsiENSG00000179409

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410IET3 Eukaryota
ENOG410XYXX LUCA
GeneTreeiENSGT00390000012296
HOGENOMiHOG000143409
InParanoidiP57678
KOiK13132
OMAiEKKWAFS
OrthoDBi426377at2759
PhylomeDBiP57678
TreeFamiTF329445

Enzyme and pathway databases

ReactomeiR-HSA-191859 snRNP Assembly
SIGNORiP57678

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
GEMIN4 human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
GEMIN4

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
50628
PharosiP57678

Protein Ontology

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PROi
PR:P57678

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000179409 Expressed in 197 organ(s), highest expression level in testis
ExpressionAtlasiP57678 baseline and differential
GenevisibleiP57678 HS

Family and domain databases

InterProiView protein in InterPro
IPR033265 GEMIN4
PANTHERiPTHR15571 PTHR15571, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
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<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiGEMI4_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: P57678
Secondary accession number(s): Q9NZS7, Q9UG32, Q9Y4Q2
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 1, 2000
Last sequence update: February 8, 2011
Last modified: October 16, 2019
This is version 163 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
  4. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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