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Q8N5G0

- SMI20_HUMAN

UniProt

Q8N5G0 - SMI20_HUMAN

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Protein

Small integral membrane protein 20

Gene

SMIM20

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 2 out of 5- Experimental evidence at protein leveli

Names & Taxonomyi

Protein namesi
Recommended name:
Small integral membrane protein 20
Gene namesi
Name:SMIM20
Synonyms:C4orf52
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 4

Organism-specific databases

HGNCiHGNC:37260. SMIM20.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei108 – 12821HelicalSequence AnalysisAdd
BLAST

GO - Cellular componenti

  1. integral component of membrane Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA165663312.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 168168Small integral membrane protein 20PRO_0000326049Add
BLAST

Proteomic databases

MaxQBiQ8N5G0.
PaxDbiQ8N5G0.
PRIDEiQ8N5G0.

Expressioni

Gene expression databases

BgeeiQ8N5G0.
ExpressionAtlasiQ8N5G0. baseline and differential.
GenevestigatoriQ8N5G0.

Organism-specific databases

HPAiHPA016552.

Interactioni

Protein-protein interaction databases

BioGridi133034. 4 interactions.
IntActiQ8N5G0. 2 interactions.
STRINGi9606.ENSP00000317556.

Family & Domainsi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG41173.
GeneTreeiENSGT00390000002398.
HOGENOMiHOG000008570.
InParanoidiQ8N5G0.
OMAiSADFKGH.
OrthoDBiEOG769ZNM.
PhylomeDBiQ8N5G0.
TreeFamiTF353700.

Family and domain databases

InterProiIPR027917. DUF4538.
[Graphical view]
PfamiPF15061. DUF4538. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q8N5G0-1) [UniParc]FASTAAdd to Basket

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.

« Hide

        10         20         30         40         50
MVKEVWRVLR EEPGRRKESR QNRARGNRVQ QNSSNLNPTP APGPHSTESR
60 70 80 90 100
GRRRAGSEAP PRPGSESLST SSERGHGPAV GNLVSESAGR SAGQGSPGPD
110 120 130 140 150
AMSRNLRTAL IFGGFISLIG AAFYPIYFRP LMRLEEYKKE QAINRAGIVQ
160
EDVQPPGLKV WSDPFGRK
Length:168
Mass (Da):18,403
Last modified:March 18, 2008 - v2
Checksum:i37A1CFA36EADEA40
GO
Isoform 2 (identifier: Q8N5G0-2) [UniParc]FASTAAdd to Basket

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

Show »
Length:67
Mass (Da):7,702
Checksum:iFCBA42B976E900AA
GO

Sequence cautioni

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

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti41 – 411A → T.
Corresponds to variant rs2305669 [ dbSNP | Ensembl ].
VAR_039965
Natural varianti65 – 651S → N.
Corresponds to variant rs6448414 [ dbSNP | Ensembl ].
VAR_039966
Natural varianti76 – 761H → N.
Corresponds to variant rs2305670 [ dbSNP | Ensembl ].
VAR_039967
Natural varianti109 – 1091A → T.
Corresponds to variant rs4521339 [ dbSNP | Ensembl ].
VAR_039968

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 101101Missing in isoform 2. CuratedVSP_038831Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AC133961 Genomic DNA. No translation available.
CH471069 Genomic DNA. Translation: EAW92845.1.
BC006003 mRNA. Translation: AAH06003.1.
BC032431 mRNA. Translation: AAH32431.1. Different initiation.
CCDSiCCDS47038.1. [Q8N5G0-2]
RefSeqiNP_001138904.1. NM_001145432.1. [Q8N5G0-2]
UniGeneiHs.479386.

Genome annotation databases

EnsembliENST00000506197; ENSP00000427407; ENSG00000250317. [Q8N5G0-2]
ENST00000614775; ENSP00000483831; ENSG00000250317. [Q8N5G0-1]
GeneIDi389203.
KEGGihsa:389203.
UCSCiuc003grw.4. human. [Q8N5G0-2]

Polymorphism databases

DMDMi172046141.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AC133961 Genomic DNA. No translation available.
CH471069 Genomic DNA. Translation: EAW92845.1 .
BC006003 mRNA. Translation: AAH06003.1 .
BC032431 mRNA. Translation: AAH32431.1 . Different initiation.
CCDSi CCDS47038.1. [Q8N5G0-2 ]
RefSeqi NP_001138904.1. NM_001145432.1. [Q8N5G0-2 ]
UniGenei Hs.479386.

3D structure databases

ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 133034. 4 interactions.
IntActi Q8N5G0. 2 interactions.
STRINGi 9606.ENSP00000317556.

Polymorphism databases

DMDMi 172046141.

Proteomic databases

MaxQBi Q8N5G0.
PaxDbi Q8N5G0.
PRIDEi Q8N5G0.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000506197 ; ENSP00000427407 ; ENSG00000250317 . [Q8N5G0-2 ]
ENST00000614775 ; ENSP00000483831 ; ENSG00000250317 . [Q8N5G0-1 ]
GeneIDi 389203.
KEGGi hsa:389203.
UCSCi uc003grw.4. human. [Q8N5G0-2 ]

Organism-specific databases

CTDi 389203.
GeneCardsi GC04P025865.
H-InvDB HIX0031425.
HGNCi HGNC:37260. SMIM20.
HPAi HPA016552.
neXtProti NX_Q8N5G0.
PharmGKBi PA165663312.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG41173.
GeneTreei ENSGT00390000002398.
HOGENOMi HOG000008570.
InParanoidi Q8N5G0.
OMAi SADFKGH.
OrthoDBi EOG769ZNM.
PhylomeDBi Q8N5G0.
TreeFami TF353700.

Miscellaneous databases

GenomeRNAii 389203.
NextBioi 102702.

Gene expression databases

Bgeei Q8N5G0.
ExpressionAtlasi Q8N5G0. baseline and differential.
Genevestigatori Q8N5G0.

Family and domain databases

InterProi IPR027917. DUF4538.
[Graphical view ]
Pfami PF15061. DUF4538. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

  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. 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. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

Entry informationi

Entry nameiSMI20_HUMAN
AccessioniPrimary (citable) accession number: Q8N5G0
Secondary accession number(s): C9JYT8, Q9BRT5
Entry historyi
Integrated into UniProtKB/Swiss-Prot: March 18, 2008
Last sequence update: March 18, 2008
Last modified: October 29, 2014
This is version 66 of the entry and version 2 of the sequence. [Complete history]
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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 4
    Human chromosome 4: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations

External Data

Dasty 3