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Q8N5G0 (SMI20_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 62. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (3) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Small integral membrane protein 20
Gene names
Name:SMIM20
Synonyms:C4orf52
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length168 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Subcellular location

Membrane; Single-pass membrane protein Potential.

Sequence caution

The sequence AAH32431.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

Ontologies

Keywords
   Cellular componentMembrane
   Coding sequence diversityAlternative splicing
Polymorphism
   DomainTransmembrane
Transmembrane helix
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Cellular_componentintegral component of membrane

Inferred from electronic annotation. Source: UniProtKB-KW

Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q8N5G0-1)

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: Q8N5G0-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-101: Missing.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 168168Small integral membrane protein 20
PRO_0000326049

Regions

Transmembrane108 – 12821Helical; Potential

Natural variations

Alternative sequence1 – 101101Missing in isoform 2.
VSP_038831
Natural variant411A → T.
Corresponds to variant rs2305669 [ dbSNP | Ensembl ].
VAR_039965
Natural variant651S → N.
Corresponds to variant rs6448414 [ dbSNP | Ensembl ].
VAR_039966
Natural variant761H → N.
Corresponds to variant rs2305670 [ dbSNP | Ensembl ].
VAR_039967
Natural variant1091A → T.
Corresponds to variant rs4521339 [ dbSNP | Ensembl ].
VAR_039968

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified March 18, 2008. Version 2.
Checksum: 37A1CFA36EADEA40

FASTA16818,403
        10         20         30         40         50         60 
MVKEVWRVLR EEPGRRKESR QNRARGNRVQ QNSSNLNPTP APGPHSTESR GRRRAGSEAP 

        70         80         90        100        110        120 
PRPGSESLST SSERGHGPAV GNLVSESAGR SAGQGSPGPD AMSRNLRTAL IFGGFISLIG 

       130        140        150        160 
AAFYPIYFRP LMRLEEYKKE QAINRAGIVQ EDVQPPGLKV WSDPFGRK 

« Hide

Isoform 2 [UniParc].

Checksum: FCBA42B976E900AA
Show »

FASTA677,702

References

[1]"Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H. expand/collapse author list , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[2]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. expand/collapse author list , 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].
[3]"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] OF 66-168 (ISOFORMS 1/2).
Tissue: Skeletal muscle and Testis.
[4]"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].

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AC133961 Genomic DNA. No translation available.
CH471069 Genomic DNA. Translation: EAW92845.1.
BC006003 mRNA. Translation: AAH06003.1.
BC032431 mRNA. Translation: AAH32431.1. Different initiation.
RefSeqNP_001138904.1. NM_001145432.1.
UniGeneHs.479386.

3D structure databases

ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid133034. 4 interactions.
IntActQ8N5G0. 2 interactions.
STRING9606.ENSP00000317556.

Polymorphism databases

DMDM172046141.

Proteomic databases

PaxDbQ8N5G0.
PRIDEQ8N5G0.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000506197; ENSP00000427407; ENSG00000250317. [Q8N5G0-2]
GeneID389203.
KEGGhsa:389203.
UCSCuc003grw.4. human. [Q8N5G0-2]

Organism-specific databases

CTD389203.
GeneCardsGC04P025865.
H-InvDBHIX0031425.
HGNCHGNC:37260. SMIM20.
HPAHPA016552.
neXtProtNX_Q8N5G0.
PharmGKBPA165663312.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG41173.
HOGENOMHOG000008570.
InParanoidQ8N5G0.
OMALMRTEEY.
OrthoDBEOG769ZNM.
PhylomeDBQ8N5G0.
TreeFamTF353700.

Gene expression databases

ArrayExpressQ8N5G0.
BgeeQ8N5G0.
GenevestigatorQ8N5G0.

Family and domain databases

InterProIPR027917. DUF4538.
[Graphical view]
PfamPF15061. DUF4538. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi389203.
NextBio102702.

Entry information

Entry nameSMI20_HUMAN
AccessionPrimary (citable) accession number: Q8N5G0
Secondary accession number(s): C9JYT8, Q9BRT5
Entry history
Integrated into UniProtKB/Swiss-Prot: March 18, 2008
Last sequence update: March 18, 2008
Last modified: April 16, 2014
This is version 62 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 4

Human chromosome 4: entries, gene names and cross-references to MIM