Format

Send to:

Choose Destination

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

Gene ID: 389432, updated on 23-Nov-2021

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
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
Expression
Broad expression in placenta (RPKM 5.1), colon (RPKM 4.2) and 21 other tissues See more
Orthologs
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

See SAMD5 in Genome Data Viewer
Location:
6q24.3
Exon count:
3
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (147508690..147948291)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (147829826..147891157)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105378043 Neighboring gene YAP1 pseudogene 1 Neighboring gene uncharacterized LOC105378044 Neighboring gene SAM and SH3 domain containing 1 Neighboring gene RNA, U6 small nuclear 1222, pseudogene Neighboring gene Sharpr-MPRA regulatory region 6687

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

Phenotypes

Associated conditions

Description Tests
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

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

General protein information

Preferred Names
sterile alpha motif domain-containing protein 5
Names
SAM domain containing 1
SAM domain-containing protein 5

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_001030060.3NP_001025231.1  sterile alpha motif domain-containing protein 5

    See identical proteins and their annotated locations for NP_001025231.1

    Status: VALIDATED

    Source sequence(s)
    AL034350, AL354880, BX642659, CB988162
    Consensus CDS
    CCDS34548.1
    UniProtKB/Swiss-Prot
    Q5TGI4
    Related
    ENSP00000356444.1, ENST00000367474.2
    Conserved Domains (2) summary
    cd09527
    Location:264
    SAM_Samd5; SAM domain of Samd5 subfamily
    smart00454
    Location:665
    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
    147508690..147948291
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017010850.1XP_016866339.1  sterile alpha motif domain-containing protein 5 isoform X1

Support Center