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Entry version 124 (02 Dec 2020)
Sequence version 2 (15 May 2007)
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Protein

Guanine nucleotide exchange protein SMCR8

Gene

SMCR8

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

Component of the C9orf72-SMCR8 complex, a complex that has guanine nucleotide exchange factor (GEF) activity and regulates autophagy (PubMed:20562859, PubMed:27193190, PubMed:27103069, PubMed:27559131, PubMed:27617292, PubMed:28195531). In the complex, C9orf72 and SMCR8 probably constitute the catalytic subunits that promote the exchange of GDP to GTP, converting inactive GDP-bound RAB8A and RAB39B into their active GTP-bound form, thereby promoting autophagosome maturation (PubMed:20562859, PubMed:27103069, PubMed:27617292, PubMed:28195531). The C9orf72-SMCR8 complex also acts as a negative regulator of autophagy initiation by interacting with the ATG1/ULK1 kinase complex and inhibiting its protein kinase activity (PubMed:27617292, PubMed:28195531). Acts as a regulator of mTORC1 signaling by promoting phosphorylation of mTORC1 substrates (PubMed:27559131, PubMed:28195531). In addition to its activity in the cytoplasm within the C9orf72-SMCR8 complex, SMCR8 also localizes in the nucleus, where it associates with chromatin and negatively regulates expression of suppresses ULK1 and WIPI2 genes (PubMed:28195531).6 Publications

<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 - Molecular functioni

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

Molecular functionGuanine-nucleotide releasing factor
Biological processAutophagy, Transcription, Transcription regulation

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...
PathwayCommonsi
Q8TEV9

SIGNOR Signaling Network Open Resource

More...
SIGNORi
Q8TEV9

<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%5Fand%5Ftaxonomy%5Fsection">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:
Guanine nucleotide exchange protein SMCR8Curated
Alternative name(s):
Smith-Magenis syndrome chromosomal region candidate gene 8 proteinImported
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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:SMCR8Imported
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fmanual">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

Eukaryotic Pathogen and Host Database Resources

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EuPathDBi
HostDB:ENSG00000176994.10

Human Gene Nomenclature Database

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HGNCi
HGNC:17921, SMCR8

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q8TEV9

<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

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology%5Fand%5Fbiotech%5Fsection">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi402S → A: Impaired autophagosome maturation; when associated with A-796. 1 Publication1
Mutagenesisi402S → D: Phosphomimetic mutant; able to promote autophagosome maturation; when associated with D-796. 1 Publication1
Mutagenesisi796T → A: Impaired autophagosome maturation; when associated with A-402. 1 Publication1
Mutagenesisi796T → D: Phosphomimetic mutant; able to promote autophagosome maturation; when associated with D-402. 1 Publication1

Organism-specific databases

DisGeNET

More...
DisGeNETi
140775

Open Targets

More...
OpenTargetsi
ENSG00000176994

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA38266

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q8TEV9, Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
SMCR8

Domain mapping of disease mutations (DMDM)

More...
DMDMi
147733168

<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 or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002874691 – 937Guanine nucleotide exchange protein SMCR8Add BLAST937

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 residuei402Phosphoserine; by TBK11 Publication1
Modified residuei417PhosphoserineCombined sources1
Modified residuei468PhosphoserineCombined sources1
Modified residuei471PhosphoserineCombined sources1
Modified residuei489PhosphoserineCombined sources1
Modified residuei492PhosphoserineCombined sources1
Modified residuei498PhosphoserineCombined sources1
Modified residuei790PhosphoserineCombined sources1
Modified residuei796Phosphothreonine; by TBK11 Publication1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Phosphorylation by TBK1 is required to promote autophagosome maturation (PubMed:27103069). Phosphorylated by ULK1 (PubMed:27103069).1 Publication

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q8TEV9

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q8TEV9

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
Q8TEV9

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q8TEV9

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

More...
PaxDbi
Q8TEV9

PeptideAtlas

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PeptideAtlasi
Q8TEV9

PRoteomics IDEntifications database

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PRIDEi
Q8TEV9

ProteomicsDB: a multi-organism proteome resource

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ProteomicsDBi
74504 [Q8TEV9-1]
74505 [Q8TEV9-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q8TEV9

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

More...
PhosphoSitePlusi
Q8TEV9

<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

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Expressed in all tissues tested.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000176994, Expressed in pancreas and 222 other tissues

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q8TEV9, HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000176994, Low tissue specificity

<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%5Fsection">'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%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with C9orf72; the interaction is direct (PubMed:27559131, PubMed:27617292).

Component of the C9orf72-SMCR8 complex, at least composed of C9orf72, SMCR8 and WDR41 (PubMed:27193190, PubMed:27103069, PubMed:27559131, PubMed:27617292, PubMed:28195531). The C9orf72-SMCR8 complex associates with the ATG1/ULK1 kinase complex (PubMed:28195531).

5 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">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="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Hide details

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

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BioGRIDi
126704, 25 interactors

ComplexPortal: manually curated resource of macromolecular complexes

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ComplexPortali
CPX-3961, C9orf72-SMCR8 complex

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
Q8TEV9

Protein interaction database and analysis system

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IntActi
Q8TEV9, 16 interactors

STRING: functional protein association networks

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STRINGi
9606.ENSP00000385025

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
Q8TEV9, protein

<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

Secondary structure

1937
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

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

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SMRi
Q8TEV9

Database of comparative protein structure models

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ModBasei
Search...

Protein Data Bank in Europe - Knowledge Base

More...
PDBe-KBi
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

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family%5Fand%5Fdomains%5Fsection">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini48 – 220uDENN FLCN/SMCR8-typePROSITE-ProRule annotation1 PublicationAdd BLAST173
Domaini318 – 835cDENN FLCN/SMCR8-typePROSITE-ProRule annotation1 PublicationAdd BLAST518
Domaini844 – 910dDENN FLCN/SMCR8-typePROSITE-ProRule annotation1 PublicationAdd BLAST67

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the SMCR8 family.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
ENOG502QSW2, Eukaryota

Ensembl GeneTree

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GeneTreei
ENSGT00390000010052

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
CLU_013891_0_0_1

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q8TEV9

Identification of Orthologs from Complete Genome Data

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OMAi
KPVKHWV

Database of Orthologous Groups

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OrthoDBi
692565at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q8TEV9

TreeFam database of animal gene trees

More...
TreeFami
TF330880

Family and domain databases

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR037521, FLCN/SMCR8_DENN
IPR037520, Folliculin/SMCR8_N

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF11704, Folliculin, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS51834, DENN_FLCN_SMCR8, 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%5Flength">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>Sequences (2)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">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 describes 2 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket
Isoform 1 (identifier: Q8TEV9-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
MISAPDVVAF TKEEEYEEEP YNEPALPEEY SVPLFPFASQ GANPWSKLSG
60 70 80 90 100
AKFSRDFILI SEFSEQVGPQ PLLTIPNDTK VFGTFDLNYF SLRIMSVDYQ
110 120 130 140 150
ASFVGHPPGS AYPKLNFVED SKVVLGDSKE GAFAYVHHLT LYDLEARGFV
160 170 180 190 200
RPFCMAYISA DQHKIMQQFQ ELSAEFSRAS ECLKTGNRKA FAGELEKKLK
210 220 230 240 250
DLDYTRTVLH TETEIQKKAN DKGFYSSQAI EKANELASVE KSIIEHQDLL
260 270 280 290 300
KQIRSYPHRK LKGHDLCPGE MEHIQDQASQ ASTTSNPDES ADTDLYTCRP
310 320 330 340 350
AYTPKLIKAK STKCFDKKLK TLEELCDTEY FTQTLAQLSH IEHMFRGDLC
360 370 380 390 400
YLLTSQIDRA LLKQQHITNF LFEDFVEVDD RMVEKQESIP SKPSQDRPPS
410 420 430 440 450
SSLEECPIPK VLISVGSYKS SVESVLIKME QELGDEEYKE VEVTELSSFD
460 470 480 490 500
PQENLDYLDM DMKGSISSGE SIEVLGTEKS TSVLSKSDSQ ASLTVPLSPQ
510 520 530 540 550
VVRSKAVSHR TISEDSIEVL STCPSEALIP DDFKASYPSA INEEESYPDG
560 570 580 590 600
NEGAIRFQAS ISPPELGETE EGSIENTPSQ IDSSCCIGKE SDGQLVLPST
610 620 630 640 650
PAHTHSDEDG VVSSPPQRHR QKDQGFRVDF SVENANPSSR DNSCEGFPAY
660 670 680 690 700
ELDPSHLLAS RDISKTSLDN YSDTTSYVSS VASTSSDRIP SAYPAGLSSD
710 720 730 740 750
RHKKRAGQNA LKFIRQYPFA HPAIYSLLSG RTLVVLGEDE AIVRKLVTAL
760 770 780 790 800
AIFVPSYGCY AKPVKHWASS PLHIMDFQKW KLIGLQRVAS PAGAGTLHAL
810 820 830 840 850
SRYSRYTSIL DLDNKTLRCP LYRGTLVPRL ADHRTQIKRG STYYLHVQSM
860 870 880 890 900
LTQLCSKAFL YTFCHHLHLP THDKETEELV ASRQMSFLKL TLGLVNEDVR
910 920 930
VVQYLAELLK LHYMQESPGT SHPMLRFDYV PSFLYKI
Length:937
Mass (Da):105,022
Last modified:May 15, 2007 - 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:i53A4EF9B3107248F
GO
Isoform 2 (identifier: Q8TEV9-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     788-937: Missing.

Show »
Length:787
Mass (Da):87,755
Checksum:i7F872839B3DAA5A2
GO

Natural variant

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_032309524P → L1 PublicationCorresponds to variant dbSNP:rs8080966Ensembl.1
Natural variantiVAR_032310556R → H1 PublicationCorresponds to variant dbSNP:rs1563632Ensembl.1
Natural variantiVAR_032311636N → S. Corresponds to variant dbSNP:rs12449313Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_025487788 – 937Missing in isoform 2. 1 PublicationAdd BLAST150

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AF467440 mRNA Translation: AAL78337.1
BC001018 mRNA Translation: AAH01018.1 Different termination.
BC101116 mRNA Translation: AAI01117.1
BC101117 mRNA Translation: AAI01118.1
BC014179 mRNA Translation: AAH14179.1 Different termination.
BC142680 mRNA Translation: AAI42681.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS11195.2 [Q8TEV9-1]

NCBI Reference Sequences

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RefSeqi
NP_658988.2, NM_144775.2 [Q8TEV9-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000406438; ENSP00000385025; ENSG00000176994 [Q8TEV9-1]
ENST00000639332; ENSP00000492062; ENSG00000283741 [Q8TEV9-1]

Database of genes from NCBI RefSeq genomes

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GeneIDi
140775

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:140775

UCSC genome browser

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UCSCi
uc002gsy.5, human [Q8TEV9-1]

Keywords - Coding sequence diversityi

Alternative splicing, 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
AF467440 mRNA Translation: AAL78337.1
BC001018 mRNA Translation: AAH01018.1 Different termination.
BC101116 mRNA Translation: AAI01117.1
BC101117 mRNA Translation: AAI01118.1
BC014179 mRNA Translation: AAH14179.1 Different termination.
BC142680 mRNA Translation: AAI42681.1
CCDSiCCDS11195.2 [Q8TEV9-1]
RefSeqiNP_658988.2, NM_144775.2 [Q8TEV9-1]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...
PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
6LT0electron microscopy3.20B/E1-937[»]
6V4Uelectron microscopy3.80B1-937[»]
SMRiQ8TEV9
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi126704, 25 interactors
ComplexPortaliCPX-3961, C9orf72-SMCR8 complex
CORUMiQ8TEV9
IntActiQ8TEV9, 16 interactors
STRINGi9606.ENSP00000385025

PTM databases

iPTMnetiQ8TEV9
PhosphoSitePlusiQ8TEV9

Polymorphism and mutation databases

BioMutaiSMCR8
DMDMi147733168

Proteomic databases

EPDiQ8TEV9
jPOSTiQ8TEV9
MassIVEiQ8TEV9
MaxQBiQ8TEV9
PaxDbiQ8TEV9
PeptideAtlasiQ8TEV9
PRIDEiQ8TEV9
ProteomicsDBi74504 [Q8TEV9-1]
74505 [Q8TEV9-2]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

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Antibodypediai
13526, 33 antibodies

Genome annotation databases

EnsembliENST00000406438; ENSP00000385025; ENSG00000176994 [Q8TEV9-1]
ENST00000639332; ENSP00000492062; ENSG00000283741 [Q8TEV9-1]
GeneIDi140775
KEGGihsa:140775
UCSCiuc002gsy.5, human [Q8TEV9-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
140775
DisGeNETi140775
EuPathDBiHostDB:ENSG00000176994.10

GeneCards: human genes, protein and diseases

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GeneCardsi
SMCR8
HGNCiHGNC:17921, SMCR8
HPAiENSG00000176994, Low tissue specificity
neXtProtiNX_Q8TEV9
OpenTargetsiENSG00000176994
PharmGKBiPA38266

GenAtlas: human gene database

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GenAtlasi
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Phylogenomic databases

eggNOGiENOG502QSW2, Eukaryota
GeneTreeiENSGT00390000010052
HOGENOMiCLU_013891_0_0_1
InParanoidiQ8TEV9
OMAiKPVKHWV
OrthoDBi692565at2759
PhylomeDBiQ8TEV9
TreeFamiTF330880

Enzyme and pathway databases

PathwayCommonsiQ8TEV9
SIGNORiQ8TEV9

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

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BioGRID-ORCSi
140775, 9 hits in 847 CRISPR screens

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

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ChiTaRSi
SMCR8, human

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

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GenomeRNAii
140775
PharosiQ8TEV9, Tbio

Protein Ontology

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PROi
PR:Q8TEV9
RNActiQ8TEV9, protein

Gene expression databases

BgeeiENSG00000176994, Expressed in pancreas and 222 other tissues
GenevisibleiQ8TEV9, HS

Family and domain databases

InterProiView protein in InterPro
IPR037521, FLCN/SMCR8_DENN
IPR037520, Folliculin/SMCR8_N
PfamiView protein in Pfam
PF11704, Folliculin, 1 hit
PROSITEiView protein in PROSITE
PS51834, DENN_FLCN_SMCR8, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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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 nameiSMCR8_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: Q8TEV9
Secondary accession number(s): A5PKZ5, Q3ZCN0, Q6PJL3
<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%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 15, 2007
Last sequence update: May 15, 2007
Last modified: December 2, 2020
This is version 124 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

3D-structure, Reference proteome

Documents

  1. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  2. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  3. SIMILARITY comments
    Index of protein domains and families
  4. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
  5. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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