Q8N5G0 (SMI20_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Small integral membrane protein 20

Gene names

Name:	SMIM20
Synonyms:	C4orf52

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	168 AA.
Sequence status	Complete.
Protein existence	Evidence 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 component	Membrane
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Transmembrane Transmembrane helix
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Cellular_component	integral to 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 key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 168	168	Small integral membrane protein 20		PRO_0000326049
Regions
	Transmembrane	108 – 128	21	Helical; Potential
Natural variations
	Alternative sequence	1 – 101	101	Missing in isoform 2.		VSP_038831
	Natural variant	41	1	A → T. Corresponds to variant rs2305669 [ dbSNP | Ensembl ].		VAR_039965
	Natural variant	65	1	S → N. Corresponds to variant rs6448414 [ dbSNP | Ensembl ].		VAR_039966
	Natural variant	76	1	H → N. Corresponds to variant rs2305670 [ dbSNP | Ensembl ].		VAR_039967
	Natural variant	109	1	A → T. Corresponds to variant rs4521339 [ dbSNP | Ensembl ].		VAR_039968

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified March 18, 2008. Version 2. Checksum: 37A1CFA36EADEA40	FASTA	168	18,403
	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
	Isoform 2 [UniParc]. Checksum: FCBA42B976E900AA	FASTA	67	7,702
	10 20 30 40 50 60 MSRNLRTALI FGGFISLIGA AFYPIYFRPL MRLEEYKKEQ AINRAGIVQE DVQPPGLKVW SDPFGRK

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. , 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. , 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.
IPI	IPI00397994. IPI00942406.
RefSeq	NP_001138904.1. NM_001145432.1.
UniGene	Hs.479386.
3D structure databases
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000317556.
Polymorphism databases
DMDM	172046141.
Proteomic databases
PaxDb	Q8N5G0.
PRIDE	Q8N5G0.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000506197; ENSP00000427407; ENSG00000250317.
GeneID	389203.
KEGG	hsa:389203.
UCSC	uc003grw.4. human.
Organism-specific databases
CTD	389203.
GeneCards	GC04P025864.
H-InvDB	HIX0031425.
HGNC	HGNC:37260. SMIM20.
HPA	HPA016552.
neXtProt	NX_Q8N5G0.
PharmGKB	PA165663312.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG41173.
HOGENOM	HOG000008570.
InParanoid	Q8N5G0.
OrthoDB	EOG4JT070.
Gene expression databases
ArrayExpress	Q8N5G0.
Bgee	Q8N5G0.
Genevestigator	Q8N5G0.
Family and domain databases
ProtoNet	Search...
Other
GenomeRNAi	389203.
NextBio	102702.

Entry information

Entry name

SMI20_HUMAN

Accession

Primary (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:	May 1, 2013
This is version 55 of the entry and version 2 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.