SFMBT1
Scm-like with four MBT domains protein 1
Also known as: DKFZp434L243, RU1, SFMBT, SMBT1_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9UHJ3
- Gene
- SFMBT1
- Ensembl
- ENSG00000163935
- Chromosome
- 3
- Canonical length
- 866 aa
- Protein class
- Predicted intracellular proteins
- Subcellular location
- Nucleoplasm
OverviewNCBI Gene
This gene shares high similarity with the Drosophila Scm (sex comb on midleg) gene. It encodes a protein which contains four malignant brain tumor repeat (mbt) domains and may be involved in antigen recognition. [provided by RefSeq, Jun 2012]
Canonical amino-acid sequenceUniProt
866 residues, UniProt reviewed canonical sequence.
>Q9UHJ3|SFMBT1
1 MNGEQQLDAD AGSGMEEVEL SWEDYLEETG STAVPYGSFK HVDTRLQNGF APGMKLEVAV
61 RTDPETYWVA TVITTCEQLL LLRYDGYGED RRADFWCDIR KADLYPIGWC EQNKKTLEAP
121 EGIRDKVSDW DEFLRQTLIG ACSPPVPLLE GLRNGRNPLD LIAPGSRLEC QAFQDSLSTW
181 IVTVVENIGG RLKLRYEGLE SSDNYEHWLY YLDPFLHHVG WAAQQGYELQ PPSAIRHLKN
241 EAEWQEILAK VKEEEEEPLP SYLFKDKQVI GIHTFSVNMK LEAVDPWSPF GISPATVVKV
301 FDEKYFLVEM DDLRPENHAR RSFVCHADSP GIFPVQWSLK NGLHISPPPG YPSQDFDWAD
361 YLKQCGAEAA PQRCFPPLIS EHEFKENMKL EAVNPILPEE VCVATITAVR GSYLWLQLEG
421 SKKPIPECIV SVESMDIFPL GWCETNGHPL STPRRARVYK QRKIAVVQPE KQVPSSRTVH
481 EGLRNQELNS TESVMINGKY CCPKIYFNHR CFSGPYLNKG RIAELPQCVG PGNCVLVLRE
541 VLTLLINAAY KPSRVLRELQ LDKDSVWHGC GEVLKAKYKG KSYRATVEIV KTADRVTEFC
601 RQTCIKLECC PNLFGPRMVL DKCSENCSVL TKTKYTHYYG KKKNKRIGRP PGGHSNLACA
661 LKKASKRRKR RKNVFVHKKK RSSASVDNTP AGSPQGSGGE DEDDPDEGDD DSLSEGSTSE
721 QQDELQEESE MSEKKSCSSS PTQSEISTSL PPDRQRRKRE LRTFSFSDDE NKPPSPKEIR
781 IEVAERLHLD SNPLKWSVAD VVRFIRSTDC APLARIFLDQ EIDGQALLLL TLPTVQECMD
841 LKLGPAIKLC HHIERIKFAF YEQFANLocalizationUniProt · AlphaFold · HPA
Whether an antibody against SFMBT1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.37
- Highest tissue expression
- 43 nTPM
Expression across tissuesHPA
Tissue
- testis: 43 nTPM
- skeletal muscle: 12 nTPM
- parathyroid gland: 11 nTPM
- pancreas: 8.5 nTPM
- tongue: 8.1 nTPM
- tonsil: 7.9 nTPM
Single-cell type
- late primary spermatocytes: 209 nCPM
- late spermatids: 81 nCPM
- gonadotrophs: 80 nCPM
- respiratory deuterosomal cells: 73 nCPM
- early primary spermatocytes: 70 nCPM
- lactotrophs: 62 nCPM
Immune cell
- eosinophil: 9.2 nTPM
- memory B-cell: 6.3 nTPM
- naive B-cell: 5.3 nTPM
- naive CD8 T-cell: 4.1 nTPM
- memory CD4 T-cell: 4 nTPM
- naive CD4 T-cell: 3.7 nTPM
Brain region
- cerebellum: 14 nTPM
- choroid plexus: 11 nTPM
- hypothalamus: 10 nTPM
- white matter: 10 nTPM
- cerebral cortex: 10 nTPM
- medulla oblongata: 9.9 nTPM
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.32
- gnomAD pLI
- 0.94
- gnomAD missense Z
- 2.05
- DepMap mean gene effect
- -0.06
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- cell differentiation
- chromatin organization
- negative regulation of DNA-templated transcription
- spermatogenesis
- negative regulation of muscle organ development
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
- Sterile alpha motif domain
- Mbt repeat domain
- Sterile alpha motif/pointed domain superfamily
- SLED domain
- Scm-like with four MBT domains protein 1/2, SAM domain
- SLED domain superfamily
- Polycomb group and chromatin remodeling factors
- SAM domain (Sterile alpha motif)
- mbt repeat
- SLED domain
- Scm-like with four MBT domains protein 1, third MBT repeat
- Scm-like with four MBT domains protein 1, second MBT repeat
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of SFMBT1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads SFMBT1 as an antibody target. Whether an autoantibody or antibody against SFMBT1 could matter depends on whether native SFMBT1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
SFMBT1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label SFMBT1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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