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SAMD9L sterile alpha motif domain containing 9 like [ Homo sapiens (human) ]

Gene ID: 219285, updated on 7-Jun-2020

Summary

Official Symbol
SAMD9Lprovided by HGNC
Official Full Name
sterile alpha motif domain containing 9 likeprovided by HGNC
Primary source
HGNC:HGNC:1349
See related
Ensembl:ENSG00000177409 MIM:611170
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
UEF1; ATXPC; DRIF2; C7orf6
Summary
This gene encodes a cytoplasmic protein that acts as a tumor suppressor but also plays a key role in cell proliferation and the innate immune response to viral infection. The encoded protein contains an N-terminal sterile alpha motif domain. Naturally occurring mutations in this gene are associated with myeloid disorders such as juvenile myelomonocytic leukemia, acute myeloid leukemia, and myelodysplastic syndrome. Naturally occurring mutations are also associated with hepatitis-B related hepatocellular carcinoma, normophosphatemic familial tumoral calcinosis, and ataxia-pancytopenia syndrome. [provided by RefSeq, Apr 2017]
Expression
Broad expression in spleen (RPKM 19.4), appendix (RPKM 14.5) and 23 other tissues See more
Orthologs

Genomic context

See SAMD9L in Genome Data Viewer
Location:
7q21.2
Exon count:
6
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (93130056..93148385, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (92759368..92777689, complement)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene CRISPRi-validated cis-regulatory element chr7.3172 Neighboring gene sterile alpha motif domain containing 9 Neighboring gene HEPACAM family member 2 Neighboring gene VPS50 subunit of EARP/GARPII complex

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

Associated conditions

Description Tests
Ataxia-pancytopenia syndrome Compare labs

NHGRI GWAS Catalog

Description
A systemic sclerosis and systemic lupus erythematosus pan-meta-GWAS reveals new shared susceptibility loci.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Potential readthrough

Included gene: SAMD9

Homology

Clone Names

  • FLJ39885, KIAA2005

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
early endosome IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
sterile alpha motif domain-containing protein 9-like
Names
SAM domain-containing protein 9-like

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_053186.1 RefSeqGene

    Range
    5017..23346
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001303496.3NP_001290425.1  sterile alpha motif domain-containing protein 9-like

    See identical proteins and their annotated locations for NP_001290425.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate splice site in the 5' UTR compared to variant 1. Variants 1-9 encode the same protein.
    Source sequence(s)
    AB095926, AC000119, AY195585, BC127117
    Consensus CDS
    CCDS34681.1
    UniProtKB/Swiss-Prot
    Q8IVG5
    Conserved Domains (1) summary
    cd09528
    Location:1276
    SAM_Samd9_Samd9L; SAM domain of Samd9/Samd9L subfamily
  2. NM_001303497.3NP_001290426.1  sterile alpha motif domain-containing protein 9-like

    See identical proteins and their annotated locations for NP_001290426.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) contains an alternate splice structure in the 5' UTR compared to variant 1. Variants 1-9 encode the same protein.
    Source sequence(s)
    AB095926, AC000119, AY195584, BC127117
    Consensus CDS
    CCDS34681.1
    UniProtKB/Swiss-Prot
    Q8IVG5
    Related
    ENSP00000408796.1, ENST00000437805.5
    Conserved Domains (1) summary
    cd09528
    Location:1276
    SAM_Samd9_Samd9L; SAM domain of Samd9/Samd9L subfamily
  3. NM_001303498.3NP_001290427.1  sterile alpha motif domain-containing protein 9-like

    See identical proteins and their annotated locations for NP_001290427.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks an alternate exon and contains an alternate splice structure in the 5' UTR, compared to variant 1. Variants 1-9 encode the same protein.
    Source sequence(s)
    AB095926, AC000119, BC127117, DQ068177
    Consensus CDS
    CCDS34681.1
    UniProtKB/Swiss-Prot
    Q8IVG5
    Conserved Domains (1) summary
    cd09528
    Location:1276
    SAM_Samd9_Samd9L; SAM domain of Samd9/Samd9L subfamily
  4. NM_001303500.3NP_001290429.1  sterile alpha motif domain-containing protein 9-like

    See identical proteins and their annotated locations for NP_001290429.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) lacks an alternate exon and uses an alternate splice site in the 5' UTR, compared to variant 1. Variants 1-9 encode the same protein.
    Source sequence(s)
    AB095926, AC000119, AY195582, BC127117
    Consensus CDS
    CCDS34681.1
    UniProtKB/Swiss-Prot
    Q8IVG5
    Conserved Domains (1) summary
    cd09528
    Location:1276
    SAM_Samd9_Samd9L; SAM domain of Samd9/Samd9L subfamily
  5. NM_001350082.2NP_001337011.1  sterile alpha motif domain-containing protein 9-like

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) contains an alternate splice structure in the 5' UTR compared to variant 1. Variants 1-9 encode the same protein.
    Source sequence(s)
    AC000119
    Consensus CDS
    CCDS34681.1
    Conserved Domains (1) summary
    cd09528
    Location:1276
    SAM_Samd9_Samd9L; SAM domain of Samd9/Samd9L subfamily
  6. NM_001350083.2NP_001337012.1  sterile alpha motif domain-containing protein 9-like

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7) lacks an alternate exon in the 5' UTR, compared to variant 1. Variants 1-9 encode the same protein.
    Source sequence(s)
    AC000119
    Consensus CDS
    CCDS34681.1
    Conserved Domains (1) summary
    cd09528
    Location:1276
    SAM_Samd9_Samd9L; SAM domain of Samd9/Samd9L subfamily
  7. NM_001350084.2NP_001337013.1  sterile alpha motif domain-containing protein 9-like

    Status: REVIEWED

    Description
    Transcript Variant: This variant (8) contains an alternate splice structure in the 5' UTR compared to variant 1. Variants 1-9 encode the same protein.
    Source sequence(s)
    AC000119
    Consensus CDS
    CCDS34681.1
    Related
    ENSP00000405760.1, ENST00000411955.5
    Conserved Domains (1) summary
    cd09528
    Location:1276
    SAM_Samd9_Samd9L; SAM domain of Samd9/Samd9L subfamily
  8. NM_001350085.2NP_001337014.1  sterile alpha motif domain-containing protein 9-like

    Status: REVIEWED

    Description
    Transcript Variant: This variant (9) uses an alternate splice site in the 5' UTR, compared to variant 1. Variants 1-9 encode the same protein.
    Source sequence(s)
    AC000119
    Consensus CDS
    CCDS34681.1
    Conserved Domains (1) summary
    cd09528
    Location:1276
    SAM_Samd9_Samd9L; SAM domain of Samd9/Samd9L subfamily
  9. NM_152703.5NP_689916.2  sterile alpha motif domain-containing protein 9-like

    See identical proteins and their annotated locations for NP_689916.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript. Variants 1-9 encode the same protein.
    Source sequence(s)
    AB095926, AC000119, AY195586, BC127117
    Consensus CDS
    CCDS34681.1
    UniProtKB/Swiss-Prot
    Q8IVG5
    Related
    ENSP00000326247.4, ENST00000318238.9
    Conserved Domains (1) summary
    cd09528
    Location:1276
    SAM_Samd9_Samd9L; SAM domain of Samd9/Samd9L subfamily

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
    93130056..93148385 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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