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STBD1 starch binding domain 1 [ Homo sapiens (human) ]

Gene ID: 8987, updated on 23-Nov-2021

Summary

Official Symbol
STBD1provided by HGNC
Official Full Name
starch binding domain 1provided by HGNC
Primary source
HGNC:HGNC:24854
See related
Ensembl:ENSG00000118804 MIM:607406
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
GENEX3414; GENX-3414
Expression
Broad expression in fat (RPKM 72.0), liver (RPKM 33.4) and 18 other tissues See more
Orthologs
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Genomic context

See STBD1 in Genome Data Viewer
Location:
4q21.1
Exon count:
2
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 4 NC_000004.12 (76306733..76311130)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (77227886..77232283)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene family with sequence similarity 47 member E Neighboring gene uncharacterized LOC105377286 Neighboring gene FAM47E-STBD1 readthrough Neighboring gene NFE2L2 motif-containing MPRA enhancer 290 Neighboring gene coiled-coil domain containing 158 Neighboring gene sorting nexin 5 pseudogene 1 Neighboring gene RNA, U6 small nuclear 1000, pseudogene

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
Genome-wide association study reveals genetic risk underlying Parkinson's disease.
GeneReviews: Not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ41801

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables enzyme binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables glycogen binding IDA
Inferred from Direct Assay
more info
PubMed 
enables polysaccharide binding IDA
Inferred from Direct Assay
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables starch binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
involved_in glycogen catabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in glycophagy IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in intracellular transport IGI
Inferred from Genetic Interaction
more info
PubMed 
Component Evidence Code Pubs
located_in T-tubule IDA
Inferred from Direct Assay
more info
PubMed 
located_in endoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
located_in endoplasmic reticulum membrane IEA
Inferred from Electronic Annotation
more info
 
located_in ficolin-1-rich granule membrane TAS
Traceable Author Statement
more info
 
located_in integral component of plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in perinuclear region of cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
located_in phagophore assembly site membrane IEA
Inferred from Electronic Annotation
more info
 
located_in plasma membrane TAS
Traceable Author Statement
more info
 
located_in tertiary granule membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
starch-binding domain-containing protein 1
Names
genethonin 1
glycophagy cargo receptor STBD1

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_003943.5NP_003934.1  starch-binding domain-containing protein 1

    See identical proteins and their annotated locations for NP_003934.1

    Status: VALIDATED

    Source sequence(s)
    AK123795, BC022301
    Consensus CDS
    CCDS3578.1
    UniProtKB/Swiss-Prot
    O95210
    Related
    ENSP00000237642.6, ENST00000237642.7
    Conserved Domains (1) summary
    cd05813
    Location:264358
    CBM20_genethonin_1; Genethonin-1, C-terminal CBM20 (carbohydrate-binding module, family 20) domain. Genethonin-1 is a human skeletal muscle protein with no known function. It contains a C-terminal CBM20 domain. The CBM20 domain is found in a large number of starch ...

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_000004.12 Reference GRCh38.p13 Primary Assembly

    Range
    76306733..76311130
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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