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Protein

Smith-Magenis syndrome chromosomal region candidate gene 8 protein

Gene

SMCR8

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

Names & Taxonomyi

Protein namesi
Recommended name:
Smith-Magenis syndrome chromosomal region candidate gene 8 protein
Gene namesi
Name:SMCR8
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 17

Organism-specific databases

HGNCiHGNC:17921. SMCR8.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA38266.

Polymorphism and mutation databases

BioMutaiSMCR8.
DMDMi147733168.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 937937Smith-Magenis syndrome chromosomal region candidate gene 8 proteinPRO_0000287469Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei417 – 4171PhosphoserineBy similarity
Modified residuei468 – 4681PhosphoserineCombined sources
Modified residuei471 – 4711PhosphoserineCombined sources
Modified residuei489 – 4891PhosphoserineBy similarity
Modified residuei492 – 4921PhosphoserineCombined sources
Modified residuei498 – 4981PhosphoserineCombined sources
Modified residuei790 – 7901PhosphoserineBy similarity

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ8TEV9.
MaxQBiQ8TEV9.
PaxDbiQ8TEV9.
PRIDEiQ8TEV9.

PTM databases

iPTMnetiQ8TEV9.
PhosphoSiteiQ8TEV9.

Expressioni

Tissue specificityi

Expressed in all tissues tested.1 Publication

Gene expression databases

BgeeiQ8TEV9.
CleanExiHS_SMCR8.
GenevisibleiQ8TEV9. HS.

Organism-specific databases

HPAiHPA021557.
HPA024646.

Interactioni

Protein-protein interaction databases

BioGridi126704. 9 interactions.
IntActiQ8TEV9. 3 interactions.
STRINGi9606.ENSP00000385025.

Structurei

3D structure databases

ProteinModelPortaliQ8TEV9.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Phylogenomic databases

eggNOGiENOG410IE98. Eukaryota.
ENOG410XQXP. LUCA.
GeneTreeiENSGT00390000010052.
HOGENOMiHOG000154344.
HOVERGENiHBG058947.
InParanoidiQ8TEV9.
OMAiQKWKLIG.
OrthoDBiEOG7TMZTH.
PhylomeDBiQ8TEV9.
TreeFamiTF330880.

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q8TEV9-1) [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
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
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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti524 – 5241P → L.1 Publication
Corresponds to variant rs8080966 [ dbSNP | Ensembl ].
VAR_032309
Natural varianti556 – 5561R → H.1 Publication
Corresponds to variant rs1563632 [ dbSNP | Ensembl ].
VAR_032310
Natural varianti636 – 6361N → S.
Corresponds to variant rs12449313 [ dbSNP | Ensembl ].
VAR_032311

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei788 – 937150Missing in isoform 2. 1 PublicationVSP_025487Add
BLAST

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]
UniGeneiHs.592944.
Hs.707728.

Genome annotation databases

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

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

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]
UniGeneiHs.592944.
Hs.707728.

3D structure databases

ProteinModelPortaliQ8TEV9.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi126704. 9 interactions.
IntActiQ8TEV9. 3 interactions.
STRINGi9606.ENSP00000385025.

PTM databases

iPTMnetiQ8TEV9.
PhosphoSiteiQ8TEV9.

Polymorphism and mutation databases

BioMutaiSMCR8.
DMDMi147733168.

Proteomic databases

EPDiQ8TEV9.
MaxQBiQ8TEV9.
PaxDbiQ8TEV9.
PRIDEiQ8TEV9.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi140775.
GeneCardsiSMCR8.
H-InvDBHIX0039088.
HGNCiHGNC:17921. SMCR8.
HPAiHPA021557.
HPA024646.
neXtProtiNX_Q8TEV9.
PharmGKBiPA38266.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IE98. Eukaryota.
ENOG410XQXP. LUCA.
GeneTreeiENSGT00390000010052.
HOGENOMiHOG000154344.
HOVERGENiHBG058947.
InParanoidiQ8TEV9.
OMAiQKWKLIG.
OrthoDBiEOG7TMZTH.
PhylomeDBiQ8TEV9.
TreeFamiTF330880.

Miscellaneous databases

ChiTaRSiSMCR8. human.
GenomeRNAii140775.
PROiQ8TEV9.

Gene expression databases

BgeeiQ8TEV9.
CleanExiHS_SMCR8.
GenevisibleiQ8TEV9. HS.

Family and domain databases

ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "Genes in a refined Smith-Magenis syndrome critical deletion interval on chromosome 17p11.2 and the syntenic region of the mouse."
    Bi W., Yan J., Stankiewicz P., Park S.-S., Walz K., Boerkoel C.F., Potocki L., Shaffer L.G., Devriendt K., Nowaczyk M.J.M., Inoue K., Lupski J.R.
    Genome Res. 12:713-728(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), TISSUE SPECIFICITY.
  2. "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] (ISOFORM 1), VARIANTS LEU-524 AND HIS-556.
    Tissue: Eye.
  3. "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks."
    Olsen J.V., Blagoev B., Gnad F., Macek B., Kumar C., Mortensen P., Mann M.
    Cell 127:635-648(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-471, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  4. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-498, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  5. "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach."
    Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S.
    Anal. Chem. 81:4493-4501(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  6. "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."
    Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K.
    Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-498, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Leukemic T-cell.
  7. "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."
    Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B.
    Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-468; SER-471; SER-492 AND SER-498, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

Entry informationi

Entry nameiSMCR8_HUMAN
AccessioniPrimary (citable) accession number: Q8TEV9
Secondary accession number(s): A5PKZ5, Q3ZCN0, Q6PJL3
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 15, 2007
Last sequence update: May 15, 2007
Last modified: June 8, 2016
This is version 89 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 17
    Human chromosome 17: 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.