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SAMD3 sterile alpha motif domain containing 3 [ Homo sapiens (human) ]

Gene ID: 154075, updated on 23-Nov-2021

Summary

Official Symbol
SAMD3provided by HGNC
Official Full Name
sterile alpha motif domain containing 3provided by HGNC
Primary source
HGNC:HGNC:21574
See related
Ensembl:ENSG00000164483
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Expression
Broad expression in lymph node (RPKM 2.9), spleen (RPKM 2.8) and 22 other tissues See more
Orthologs
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Genomic context

See SAMD3 in Genome Data Viewer
Location:
6q23.1
Exon count:
25
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (130133203..130365868, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (130465460..130687013, complement)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105377999 Neighboring gene transmembrane protein 244 Neighboring gene L3MBTL histone methyl-lysine binding protein 3 Neighboring gene uncharacterized LOC105378000 Neighboring gene uncharacterized LOC112267974 Neighboring gene transmembrane protein 200A Neighboring gene uncharacterized LOC105378002

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

Phenotypes

EBI GWAS Catalog

Description
Generalization of variants identified by genome-wide association studies for electrocardiographic traits in African Americans.
EBI GWAS Catalog
Many sequence variants affecting diversity of adult human height.
EBI GWAS Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ34563, MGC35163

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 

General protein information

Preferred Names
sterile alpha motif domain-containing protein 3
Names
SAM domain-containing protein 3

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

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_001017373.4NP_001017373.2  sterile alpha motif domain-containing protein 3 isoform 1

    See identical proteins and their annotated locations for NP_001017373.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes isoform 1. Both variants 1 and 3 encode the same isoform (1).
    Source sequence(s)
    AI129628, AK091882, AK302228, AL355581
    Consensus CDS
    CCDS34539.1
    UniProtKB/Swiss-Prot
    Q8N6K7
    Related
    ENSP00000403565.2, ENST00000439090.7
    Conserved Domains (1) summary
    cd09526
    Location:166
    SAM_Samd3; SAM domain of Samd3 subfamily
  2. NM_001258275.3NP_001245204.1  sterile alpha motif domain-containing protein 3 isoform 1

    See identical proteins and their annotated locations for NP_001245204.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR, compared to variant 1. Both variants 1 and 3 encode the same isoform (1).
    Source sequence(s)
    AI129628, AK091351, AK091882, AL121947, KF458284
    Consensus CDS
    CCDS34539.1
    UniProtKB/Swiss-Prot
    Q8N6K7
    Related
    ENSP00000357116.2, ENST00000368134.6
    Conserved Domains (1) summary
    cd09526
    Location:166
    SAM_Samd3; SAM domain of Samd3 subfamily
  3. NM_001277185.2NP_001264114.1  sterile alpha motif domain-containing protein 3 isoform 3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) contains an alternate exon structure in the 5' UTR and 5' coding region. These differences cause translation initiation at an alternate start codon, compared to variant 1. The encoded isoform (2) has a longer N-terminus compared to isoform 1.
    Source sequence(s)
    AK302228, AL355581
    Consensus CDS
    CCDS64525.1
    UniProtKB/Swiss-Prot
    Q8N6K7
    Related
    ENSP00000402092.2, ENST00000457563.6
    Conserved Domains (2) summary
    cd09526
    Location:2590
    SAM_Samd3; SAM domain of Samd3 subfamily
    smart00454
    Location:2589
    SAM; Sterile alpha motif

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p13 Primary Assembly

    Range
    130133203..130365868 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024446335.1XP_024302103.1  sterile alpha motif domain-containing protein 3 isoform X3

    Conserved Domains (1) summary
    cd09526
    Location:166
    SAM_Samd3; SAM domain of Samd3 subfamily
  2. XM_024446334.1XP_024302102.1  sterile alpha motif domain-containing protein 3 isoform X3

    Conserved Domains (1) summary
    cd09526
    Location:166
    SAM_Samd3; SAM domain of Samd3 subfamily
  3. XM_024446336.1XP_024302104.1  sterile alpha motif domain-containing protein 3 isoform X3

    Related
    ENSP00000391163.2, ENST00000437477.6
    Conserved Domains (1) summary
    cd09526
    Location:166
    SAM_Samd3; SAM domain of Samd3 subfamily
  4. XM_017010307.1XP_016865796.1  sterile alpha motif domain-containing protein 3 isoform X4

  5. XM_024446337.1XP_024302105.1  sterile alpha motif domain-containing protein 3 isoform X3

    Conserved Domains (1) summary
    cd09526
    Location:166
    SAM_Samd3; SAM domain of Samd3 subfamily
  6. XM_017010305.1XP_016865794.1  sterile alpha motif domain-containing protein 3 isoform X2

    Conserved Domains (2) summary
    cd09526
    Location:2186
    SAM_Samd3; SAM domain of Samd3 subfamily
    smart00454
    Location:2185
    SAM; Sterile alpha motif
  7. XM_024446333.1XP_024302101.1  sterile alpha motif domain-containing protein 3 isoform X1

    Conserved Domains (1) summary
    cd09526
    Location:2186
    SAM_Samd3; SAM domain of Samd3 subfamily
  8. XM_017010308.2XP_016865797.2  sterile alpha motif domain-containing protein 3 isoform X5

    Conserved Domains (1) summary
    cl15755
    Location:2186
    SAM_superfamily; SAM (Sterile alpha motif )
  9. XM_017010309.2XP_016865798.2  sterile alpha motif domain-containing protein 3 isoform X6

    Conserved Domains (1) summary
    cl15755
    Location:2186
    SAM_superfamily; SAM (Sterile alpha motif )
  10. XM_017010310.2XP_016865799.2  sterile alpha motif domain-containing protein 3 isoform X7

    Related
    ENSP00000324874.6, ENST00000324172.10
    Conserved Domains (1) summary
    cl15755
    Location:2186
    SAM_superfamily; SAM (Sterile alpha motif )

RNA

  1. XR_001743173.2 RNA Sequence

  2. XR_001743172.2 RNA Sequence

  3. XR_001743171.2 RNA Sequence

  4. XR_001743174.2 RNA Sequence

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_152552.2: Suppressed sequence

    Description
    NM_152552.2: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
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