• Gene id: 23034

Gene Summary

• Gene Symbol: SAMD4A   Gene   UCSC   Ensembl
• Aliases: SAMD4, SMAUG, SMAUG1, SMG, SMGA
• Gene name: sterile alpha motif domain containing 4A
• Alternate names: protein Smaug homolog 1, SAM domain-containing protein 4A,
• Gene location: 14q22.2 (54567096: 54793314)     Exons: 17     NC_000014.9
• Gene summary(Entrez): Sterile alpha motifs (SAMs) in proteins such as SAMD4A are part of an RNA-binding domain that functions as a posttranscriptional regulator by binding to an RNA sequence motif known as the Smaug recognition element, which was named after the Drosophila Sma
• OMIM: 610747

Protein Summary

• Protein general information: Q9UPU9  
  • Name: Protein Smaug homolog 1 (Smaug 1) (hSmaug1) (Sterile alpha motif domain containing protein 4A) (SAM domain containing protein 4A)
  • Length: 718  
  • Mass: 79415
• Sequence:

  MMFRDQVGVLAGWFKGWNECEQTVALLSLLKRVSQTQARFLQLCLEHSLADCAELHVLEREANSPGIINQWQQES
  KDKVISLLLTHLPLLKPGNLDAKVEYMKLLPKILAHSIEHNQHIEESRQLLSYALIHPATSLEDRSALAMWLNHL
  EDRTSTSFGGQNRGRSDSVDYGQTHYYHQRQNSDDKLNGWQNSRDSGICINASNWQDKSMGCENGHVPLYSSSSV
  PTTINTIGTSTSTILSGQAHHSPLKRSVSLTPPMNVPNQPLGHGWMSHEDLRARGPQCLPSDHAPLSPQSSVASS
  GSGGSEHLEDQTTARNTFQEEGSGMKDVPAWLKSLRLHKYAALFSQMTYEEMMALTECQLEAQNVTKGARHKIVI
  SIQKLKERQNLLKSLERDIIEGGSLRIPLQELHQMILTPIKAYSSPSTTPEARRREPQAPRQPSLMGPESQSPDC
  KDGAAATGATATPSAGASGGLQPHQLSSCDGELAVAPLPEGDLPGQFTRVMGKVCTQLLVSRPDEENISSYLQLI
  DKCLIHEAFTETQKKRLLSWKQQVQKLFRSFPRKTLLDISGYRQQRNRGFGQSNSLPTAGSVGGGMGRRNPRQYQ
  IPSRNVPSARLGLLGTSGFVSSNQRNTTATPTIMKQGRQNLWFANPGGSNSMPSRTHSSVQRTRSLPVHTSPQNM
  LMFQQPEFQLPVTEPDINNRLESLCLSMTEHALGDGVDRTSTI

• Structural information:
  • Protein Domains: (323..39-)
    (/note="SAM"-)
  • Interpro: IPR001660  IPR013761  IPR037634  
  • CDD: cd09557
  • STRING: ENSP00000375919
• Other Databases: GeneCards:  SAMD4A  Malacards:  SAMD4A

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000932	P-body	IBA	cellular component
GO:0003729	mRNA binding	IBA	molecular function
GO:0017148	negative regulation of translation	IBA	biological process
GO:0030371	translation repressor activity	IBA	molecular function
GO:0043488	regulation of mRNA stability	IBA	biological process
GO:0000289	nuclear-transcribed mRNA poly(A) tail shortening	IBA	biological process
GO:0017148	negative regulation of translation	IEA	biological process
GO:0030371	translation repressor activity	IEA	molecular function
GO:0043488	regulation of mRNA stability	IEA	biological process
GO:0003723	RNA binding	IEA	molecular function
GO:0030054	cell junction	IEA	cellular component
GO:0043005	neuron projection	IEA	cellular component
GO:0042995	cell projection	IEA	cellular component
GO:0006417	regulation of translation	IEA	biological process
GO:0045202	synapse	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0045727	positive regulation of translation	IDA	biological process
GO:0030371	translation repressor activity	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0045202	synapse	IEA	cellular component
GO:0030425	dendrite	IEA	cellular component
GO:0043005	neuron projection	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0001650	fibrillar center	IDA	cellular component
GO:0030054	cell junction	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0003723	RNA binding	HDA	molecular function

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Non obstructive azoospermia	MIK: 24012201
Sertoli cell only syndrome	MIK: 23869807
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
24012201	Non obstructive azoospermia			31 (4 controls, 27 cases)	Male infertility	GSE45885 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
23869807	Non obstructive azoospermia, Sertoli cell only syndrome			20 (4 controls, 16 cases)	Male infertility	GSE45887 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray