SAMD5 sterile alpha motif domain containing 5 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SAMD5provided by HGNC
Official Full Name: sterile alpha motif domain containing 5provided by HGNC
Primary source: HGNC:HGNC:21180
See related: Ensembl:ENSG00000203727 MIM:620517; AllianceGenome:HGNC:21180
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
Also known as: dJ875H10.1
Summary: Predicted to be involved in regulation of intracellular signal transduction. Located in cytoplasm. [provided by Alliance of Genome Resources, Dec 2024]
Expression: Broad expression in placenta (RPKM 5.1), colon (RPKM 4.2) and 21 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 6q24.3

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (147508690..147954680)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (148701984..149150652)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (147829826..147891157)

Chromosome 6 - NC_000006.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D6S1438 (e-PCR)
- UniSTS:48175

RH104033 (e-PCR)
- UniSTS:98358

STS-AA039713 (e-PCR)
- UniSTS:4274

RH80031 (e-PCR)
- UniSTS:91103

Gene Ontology Provided by GOA

Process	Evidence Code	Pubs
involved_in regulation of intracellular signal transduction	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: sterile alpha motif domain-containing protein 5

Names: SAM domain containing 1; SAM domain-containing protein 5

NCBI Reference Sequences (RefSeq)

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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.