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SFMBT1 Scm like with four mbt domains 1 [ Homo sapiens (human) ]

Gene ID: 51460, updated on 4-May-2020

Summary

Official Symbol
SFMBT1provided by HGNC
Official Full Name
Scm like with four mbt domains 1provided by HGNC
Primary source
HGNC:HGNC:20255
See related
Ensembl:ENSG00000163935 MIM:607319
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
RU1; SFMBT; hSFMBT
Summary
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]
Expression
Broad expression in testis (RPKM 14.1), kidney (RPKM 2.6) and 24 other tissues See more
Orthologs

Genomic context

See SFMBT1 in Genome Data Viewer
Location:
3p21.1
Exon count:
24
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (52899209..53046655, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (52933221..53080089, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene STIMATE-MUSTN1 readthrough Neighboring gene STIM activating enhancer Neighboring gene musculoskeletal, embryonic nuclear protein 1 Neighboring gene microRNA 8064 Neighboring gene SERPINE1 mRNA binding protein 1 pseudogene 3 Neighboring gene RFT1 homolog

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
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NHGRI GWA Catalog
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NHGRI GWA Catalog
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
NHGRI GWA Catalog
Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4.
NHGRI GWA Catalog

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Tat tat HIV-1 Tat downregulates the expression of Scm-like with four mbt domains 1 (SFMBT1) in human primary T cells PubMed

Go to the HIV-1, Human Interaction Database

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • DKFZp434L243

Gene Ontology Provided by GOA

Function Evidence Code Pubs
chromatin binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
histone binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
histone binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
transcription corepressor activity TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
cell differentiation IEA
Inferred from Electronic Annotation
more info
 
chromatin organization IEA
Inferred from Electronic Annotation
more info
 
negative regulation of muscle organ development IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of transcription, DNA-templated IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of transcription, DNA-templated IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of transcription, DNA-templated IMP
Inferred from Mutant Phenotype
more info
PubMed 
spermatogenesis IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
scm-like with four MBT domains protein 1
Names
Scm-related gene containing four mbt domains
Scm-related gene product containing four mbt domains
renal ubiquitous protein 1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_016329.4NP_057413.2  scm-like with four MBT domains protein 1

    See identical proteins and their annotated locations for NP_057413.2

    Status: REVIEWED

    Source sequence(s)
    AC096887, AC099667, AI206996, BC014614, DB085221
    Consensus CDS
    CCDS2867.1
    UniProtKB/Swiss-Prot
    Q9UHJ3
    UniProtKB/TrEMBL
    A0A024R338
    Related
    ENSP00000378235.2, ENST00000394752.8
    Conserved Domains (4) summary
    cd09581
    Location:782866
    SAM_Scm-like-4MBT1,2; SAM domain of Scm-like-4MBT1,2 proteins of Polycomb group
    smart00454
    Location:793857
    SAM; Sterile alpha motif
    smart00561
    Location:23120
    MBT; Present in Drosophila Scm, l(3)mbt, and vertebrate SCML2
    pfam12140
    Location:502617
    DUF3588; Protein of unknown function (DUF3588)

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

    Range
    52899209..53046655 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006713204.3XP_006713267.1  scm-like with four MBT domains protein 1 isoform X1

    See identical proteins and their annotated locations for XP_006713267.1

    UniProtKB/Swiss-Prot
    Q9UHJ3
    UniProtKB/TrEMBL
    A0A024R338
    Conserved Domains (4) summary
    cd09581
    Location:782866
    SAM_Scm-like-4MBT1,2; SAM domain of Scm-like-4MBT1,2 proteins of Polycomb group
    smart00454
    Location:793857
    SAM; Sterile alpha motif
    smart00561
    Location:23120
    MBT; Present in Drosophila Scm, l(3)mbt, and vertebrate SCML2
    pfam12140
    Location:502617
    DUF3588; Protein of unknown function (DUF3588)
  2. XM_011533825.2XP_011532127.1  scm-like with four MBT domains protein 1 isoform X1

    See identical proteins and their annotated locations for XP_011532127.1

    UniProtKB/Swiss-Prot
    Q9UHJ3
    UniProtKB/TrEMBL
    A0A024R338
    Conserved Domains (4) summary
    cd09581
    Location:782866
    SAM_Scm-like-4MBT1,2; SAM domain of Scm-like-4MBT1,2 proteins of Polycomb group
    smart00454
    Location:793857
    SAM; Sterile alpha motif
    smart00561
    Location:23120
    MBT; Present in Drosophila Scm, l(3)mbt, and vertebrate SCML2
    pfam12140
    Location:502617
    DUF3588; Protein of unknown function (DUF3588)
  3. XM_011533824.2XP_011532126.1  scm-like with four MBT domains protein 1 isoform X1

    See identical proteins and their annotated locations for XP_011532126.1

    UniProtKB/Swiss-Prot
    Q9UHJ3
    UniProtKB/TrEMBL
    A0A024R338
    Conserved Domains (4) summary
    cd09581
    Location:782866
    SAM_Scm-like-4MBT1,2; SAM domain of Scm-like-4MBT1,2 proteins of Polycomb group
    smart00454
    Location:793857
    SAM; Sterile alpha motif
    smart00561
    Location:23120
    MBT; Present in Drosophila Scm, l(3)mbt, and vertebrate SCML2
    pfam12140
    Location:502617
    DUF3588; Protein of unknown function (DUF3588)
  4. XM_005265221.3XP_005265278.1  scm-like with four MBT domains protein 1 isoform X1

    See identical proteins and their annotated locations for XP_005265278.1

    UniProtKB/Swiss-Prot
    Q9UHJ3
    UniProtKB/TrEMBL
    A0A024R338
    Conserved Domains (4) summary
    cd09581
    Location:782866
    SAM_Scm-like-4MBT1,2; SAM domain of Scm-like-4MBT1,2 proteins of Polycomb group
    smart00454
    Location:793857
    SAM; Sterile alpha motif
    smart00561
    Location:23120
    MBT; Present in Drosophila Scm, l(3)mbt, and vertebrate SCML2
    pfam12140
    Location:502617
    DUF3588; Protein of unknown function (DUF3588)
  5. XM_006713203.4XP_006713266.1  scm-like with four MBT domains protein 1 isoform X1

    See identical proteins and their annotated locations for XP_006713266.1

    UniProtKB/Swiss-Prot
    Q9UHJ3
    UniProtKB/TrEMBL
    A0A024R338
    Conserved Domains (4) summary
    cd09581
    Location:782866
    SAM_Scm-like-4MBT1,2; SAM domain of Scm-like-4MBT1,2 proteins of Polycomb group
    smart00454
    Location:793857
    SAM; Sterile alpha motif
    smart00561
    Location:23120
    MBT; Present in Drosophila Scm, l(3)mbt, and vertebrate SCML2
    pfam12140
    Location:502617
    DUF3588; Protein of unknown function (DUF3588)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001005158.2: Suppressed sequence

    Description
    NM_001005158.2: This RefSeq was permanently suppressed because currently there is no full-length support for the transcript.
  2. NM_001005159.2: Suppressed sequence

    Description
    NM_001005159.2: This RefSeq was permanently suppressed because currently there is no full-length support for the transcript.
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