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SAMD9 sterile alpha motif domain containing 9 [ Homo sapiens (human) ]

Gene ID: 54809, updated on 1-Jun-2020

Summary

Official Symbol
SAMD9provided by HGNC
Official Full Name
sterile alpha motif domain containing 9provided by HGNC
Primary source
HGNC:HGNC:1348
See related
Ensembl:ENSG00000205413 MIM:610456
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
NFTC; OEF1; OEF2; DRIF1; C7orf5; MIRAGE
Summary
This gene encodes a sterile alpha motif domain-containing protein. The encoded protein localizes to the cytoplasm and may play a role in regulating cell proliferation and apoptosis. Mutations in this gene are the cause of normophosphatemic familial tumoral calcinosis. Alternate splicing results in multiple transcript variants that encode the same protein.[provided by RefSeq, Jul 2010]
Expression
Broad expression in esophagus (RPKM 24.7), spleen (RPKM 9.8) and 18 other tissues See more
Orthologs

Genomic context

See SAMD9 in Genome Data Viewer
Location:
7q21.2
Exon count:
3
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (93099513..93118023, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (92728826..92747336, complement)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene RNA, 7SL, cytoplasmic 7, pseudogene Neighboring gene CRISPRi-validated cis-regulatory element chr7.3172 Neighboring gene sterile alpha motif domain containing 9 like Neighboring gene HEPACAM family member 2

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?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Potential readthrough

Included gene: SAMD9L

Homology

Clone Names

  • FLJ20073, KIAA2004

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
endosomal vesicle fusion IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
sterile alpha motif domain-containing protein 9
Names
SAM domain-containing protein 9
expressed in aggressive fibromatosis

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.

Genomic

  1. NG_023419.1 RefSeqGene

    Range
    5045..23506
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001193307.1NP_001180236.1  sterile alpha motif domain-containing protein 9

    See identical proteins and their annotated locations for NP_001180236.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same protein.
    Source sequence(s)
    AA628487, AF445355, AK122951, BC132773, BF109390
    Consensus CDS
    CCDS34680.1
    UniProtKB/Swiss-Prot
    Q5K651
    Related
    ENSP00000484636.1, ENST00000620985.4
    Conserved Domains (2) summary
    cd09528
    Location:1275
    SAM_Samd9_Samd9L; SAM domain of Samd9/Samd9L subfamily
    smart00454
    Location:1277
    SAM; Sterile alpha motif
  2. NM_017654.4NP_060124.2  sterile alpha motif domain-containing protein 9

    See identical proteins and their annotated locations for NP_060124.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript. Both variants 1 and 2 encode the same protein.
    Source sequence(s)
    AA628487, AF445355
    Consensus CDS
    CCDS34680.1
    UniProtKB/Swiss-Prot
    Q5K651
    Related
    ENSP00000369292.2, ENST00000379958.3
    Conserved Domains (2) summary
    cd09528
    Location:1275
    SAM_Samd9_Samd9L; SAM domain of Samd9/Samd9L subfamily
    smart00454
    Location:1277
    SAM; Sterile alpha motif

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_000007.14 Reference GRCh38.p13 Primary Assembly

    Range
    93099513..93118023 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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