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SBSN suprabasin [ Homo sapiens (human) ]

Gene ID: 374897, updated on 16-Sep-2021

Summary

Official Symbol
SBSNprovided by HGNC
Official Full Name
suprabasinprovided by HGNC
Primary source
HGNC:HGNC:24950
See related
Ensembl:ENSG00000189001 MIM:609969
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
UNQ698
Expression
Restricted expression toward skin (RPKM 753.6) See more
Orthologs
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Genomic context

See SBSN in Genome Data Viewer
Location:
19q13.12
Exon count:
5
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (35523367..35528371, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (36014269..36019213, complement)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene keratinocyte differentiation associated protein Neighboring gene dermokine Neighboring gene glyceraldehyde-3-phosphate dehydrogenase, spermatogenic Neighboring gene TMEM147 antisense RNA 1 Neighboring gene transmembrane protein 147

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

Homology

Clone Names

  • MGC75533

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables molecular_function ND
No biological Data available
more info
 
Process Evidence Code Pubs
involved_in biological_process ND
No biological Data available
more info
 
Component Evidence Code Pubs
located_in extracellular exosome HDA PubMed 

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.

mRNA and Protein(s)

  1. NM_001166034.2NP_001159506.1  suprabasin isoform 1 precursor

    See identical proteins and their annotated locations for NP_001159506.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AY358701, BF838582, BX648076, CU448844
    Consensus CDS
    CCDS54253.1
    UniProtKB/Swiss-Prot
    Q6UWP8
    Related
    ENSP00000430242.1, ENST00000452271.7
    Conserved Domains (1) summary
    pfam03157
    Location:146522
    Glutenin_hmw; High molecular weight glutenin subunit
  2. NM_001166035.2NP_001159507.1  suprabasin isoform 3 precursor

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) lacks an alternate in-frame segment of the coding region, compared to variant 1, resulting in an isoform (3) that is shorter than isoform 1.
    Source sequence(s)
    AA055367, AY358701, BC063640
    UniProtKB/Swiss-Prot
    Q6UWP8
    Related
    ENSP00000468646.2, ENST00000588674.5
  3. NM_198538.4NP_940940.1  suprabasin isoform 2 precursor

    See identical proteins and their annotated locations for NP_940940.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame segment of the coding region, compared to variant 1, resulting in an isoform (2) that is shorter than isoform 1.
    Source sequence(s)
    AY358701, BC063640
    Consensus CDS
    CCDS12464.1
    UniProtKB/Swiss-Prot
    Q6UWP8
    Related
    ENSP00000428771.1, ENST00000518157.1

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p13 Primary Assembly

    Range
    35523367..35528371 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011526931.2XP_011525233.1  suprabasin isoform X3

    Conserved Domains (1) summary
    pfam09606
    Location:96538
    Med15; ARC105 or Med15 subunit of Mediator complex non-fungal
  2. XM_011526929.2XP_011525231.1  suprabasin isoform X1

    Conserved Domains (1) summary
    pfam03157
    Location:104515
    Glutenin_hmw; High molecular weight glutenin subunit
  3. XM_011526930.2XP_011525232.1  suprabasin isoform X2

    Conserved Domains (1) summary
    pfam03157
    Location:109504
    Glutenin_hmw; High molecular weight glutenin subunit
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