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    SAMD13 sterile alpha motif domain containing 13 [ Homo sapiens (human) ]

    Gene ID: 148418, updated on 27-Nov-2024

    Summary

    Official Symbol
    SAMD13provided by HGNC
    Official Full Name
    sterile alpha motif domain containing 13provided by HGNC
    Primary source
    HGNC:HGNC:24582
    See related
    Ensembl:ENSG00000203943 MIM:620800; AllianceGenome:HGNC:24582
    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
    DJL; HSD-41; HSD-42
    Expression
    Broad expression in colon (RPKM 4.2), testis (RPKM 3.9) and 16 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See SAMD13 in Genome Data Viewer
    Location:
    1p31.1
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (84298538..84350798)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (84139002..84191273)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (84764221..84816481)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 3408 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr1:84720292-84720890 Neighboring gene NEDD8 pseudogene 1 Neighboring gene NANOG hESC enhancer GRCh37_chr1:84724969-84725470 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1248 Neighboring gene small nucleolar RNA SNORA2/SNORA34 family Neighboring gene MPRA-validated peak299 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1018 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:84830842-84832041 Neighboring gene urate oxidase (pseudogene) Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1249 Neighboring gene Sharpr-MPRA regulatory region 5400 Neighboring gene deoxyribonuclease 2 beta

    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

    EBI GWAS Catalog

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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General protein information

    Preferred Names
    sterile alpha motif domain-containing protein 13
    Names
    SAM domain-containing protein 13
    dnaj-like protein (LOC148418)

    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_001010971.3NP_001010971.1  sterile alpha motif domain-containing protein 13 isoform 1

      See identical proteins and their annotated locations for NP_001010971.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and it encodes the longer protein (isoform 1).
      Source sequence(s)
      AL359273
      Consensus CDS
      CCDS30760.1
      UniProtKB/Swiss-Prot
      Q5VXD3
      Related
      ENSP00000359707.3, ENST00000370673.7
      Conserved Domains (1) summary
      cd09583
      Location:42110
      SAM_Atherin-like; SAM domain of Atherin/Atherin-like subfamily
    2. NM_001134663.2NP_001128135.1  sterile alpha motif domain-containing protein 13 isoform 2

      See identical proteins and their annotated locations for NP_001128135.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) has multiple differences in the 5' UTR and 5' coding region, which results in the use of a downstream AUG start codon, compared to variant 1. Variants 2 and 3 both encode the same protein (isoform 2).
      Source sequence(s)
      AL359273
      Consensus CDS
      CCDS44166.1
      UniProtKB/Swiss-Prot
      Q5VXD3
      Related
      ENSP00000378311.3, ENST00000394834.8
      Conserved Domains (1) summary
      cd09583
      Location:2896
      SAM_Atherin-like; SAM domain of Atherin/Atherin-like subfamily
    3. NM_001134664.2NP_001128136.1  sterile alpha motif domain-containing protein 13 isoform 2

      See identical proteins and their annotated locations for NP_001128136.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) has multiple differences in the 5' UTR and 5' coding region, which results in the use of a downstream AUG start codon, compared to variant 1. Variants 2 and 3 both encode the same protein (isoform 2).
      Source sequence(s)
      AL359273
      Consensus CDS
      CCDS44166.1
      UniProtKB/Swiss-Prot
      Q5VXD3
      Related
      ENSP00000359702.3, ENST00000370668.7
      Conserved Domains (1) summary
      cd09583
      Location:2896
      SAM_Atherin-like; SAM domain of Atherin/Atherin-like subfamily

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      84298538..84350798
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017000377.3XP_016855866.1  sterile alpha motif domain-containing protein 13 isoform X1

      UniProtKB/Swiss-Prot
      B3KPW8, D3DT11, Q53AI4, Q5VXD2, Q5VXD3, Q5VXD4
      Related
      ENSP00000359705.3, ENST00000370671.7
      Conserved Domains (2) summary
      cd09583
      Location:48116
      SAM_Atherin-like; SAM domain of Atherin/Atherin-like subfamily
      smart00454
      Location:48104
      SAM; Sterile alpha motif

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      84139002..84191273
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054334573.1XP_054190548.1  sterile alpha motif domain-containing protein 13 isoform X1

      UniProtKB/Swiss-Prot
      B3KPW8, D3DT11, Q53AI4, Q5VXD2, Q5VXD3, Q5VXD4