Aliases for SPRING1 Gene

Aliases for SPRING1 Gene

  • SREBF Pathway Regulator In Golgi 1 2 3
  • Chromosome 12 Open Reading Frame 49 2 5
  • UPF0454 Protein C12orf49 3 4
  • C12orf49 3 5
  • SPRING 2 3
  • SREBP Regulating Gene 2
  • SREBP Regulating 3
  • FLJ21415 2

External Ids for SPRING1 Gene

Previous HGNC Symbols for SPRING1 Gene

  • C12orf49

Summaries for SPRING1 Gene

GeneCards Summary for SPRING1 Gene

SPRING1 (SREBF Pathway Regulator In Golgi 1) is a Protein Coding gene. Diseases associated with SPRING1 include Complex Chromosomal Rearrangement.

Additional gene information for SPRING1 Gene

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SPRING1 Gene

Genomics for SPRING1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SPRING1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SPRING1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SPRING1

Genomic Locations for SPRING1 Gene

Genomic Locations for SPRING1 Gene
chr12:116,710,171-116,738,070
(GRCh38/hg38)
Size:
27,900 bases
Orientation:
Minus strand
chr12:117,153,593-117,175,875
(GRCh37/hg19)
Size:
22,283 bases
Orientation:
Minus strand

Genomic View for SPRING1 Gene

Genes around SPRING1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SPRING1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SPRING1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SPRING1 Gene

Proteins for SPRING1 Gene

  • Protein details for SPRING1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H741-CL049_HUMAN
    Recommended name:
    UPF0454 protein C12orf49
    Protein Accession:
    Q9H741
    Secondary Accessions:
    • Q53GE8

    Protein attributes for SPRING1 Gene

    Size:
    205 amino acids
    Molecular mass:
    23594 Da
    Quaternary structure:
    No Data Available

neXtProt entry for SPRING1 Gene

Post-translational modifications for SPRING1 Gene

  • Glycosylation at Asn67 and Thr185
  • Modification sites at PhosphoSitePlus

Other Protein References for SPRING1 Gene

No data available for DME Specific Peptides for SPRING1 Gene

Domains & Families for SPRING1 Gene

Gene Families for SPRING1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted secreted proteins

Protein Domains for SPRING1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SPRING1 Gene

GenScript: Design optimal peptide antigens:
  • UPF0454 protein C12orf49 (CL049_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9H741

UniProtKB/Swiss-Prot:

CL049_HUMAN :
  • Belongs to the UPF0454 family.
Family:
  • Belongs to the UPF0454 family.
genes like me logo Genes that share domains with SPRING1: view

Function for SPRING1 Gene

Phenotypes From GWAS Catalog for SPRING1 Gene

Gene Ontology (GO) - Molecular Function for SPRING1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with SPRING1: view
genes like me logo Genes that share phenotypes with SPRING1: view

Animal Model Products

CRISPR Products

miRNA for SPRING1 Gene

miRTarBase miRNAs that target SPRING1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SPRING1

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SPRING1 Gene

Localization for SPRING1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SPRING1 Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SPRING1 gene
Compartment Confidence
extracellular 4
cytoskeleton 2
plasma membrane 1
mitochondrion 1
peroxisome 1
nucleus 1
cytosol 1
lysosome 0
golgi apparatus 0

Gene Ontology (GO) - Cellular Components for SPRING1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
genes like me logo Genes that share ontologies with SPRING1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SPRING1 Gene

Pathways & Interactions for SPRING1 Gene

PathCards logo

SuperPathways for SPRING1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for SPRING1 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for SPRING1 Gene

Drugs & Compounds for SPRING1 Gene

No Compound Related Data Available

Transcripts for SPRING1 Gene

mRNA/cDNA for SPRING1 Gene

4 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SPRING1

Alternative Splicing Database (ASD) splice patterns (SP) for SPRING1 Gene

No ASD Table

Relevant External Links for SPRING1 Gene

GeneLoc Exon Structure for
SPRING1

Expression for SPRING1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SPRING1

SOURCE GeneReport for Unigene cluster for SPRING1 Gene:

Hs.592011

Evidence on tissue expression from TISSUES for SPRING1 Gene

  • Intestine(4.3)
No Expression Related Data Available

Primer Products

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for SPRING1 Gene

Orthologs for SPRING1 Gene

This gene was present in the common ancestor of animals.

Orthologs for SPRING1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia C12orf49 31
  • 100 (a)
OneToOne
C12H12orf49 30
  • 99.67 (n)
Cow
(Bos Taurus)
Mammalia C12orf49 31
  • 96 (a)
OneToOne
C9H12orf49 30
  • 90.41 (n)
Dog
(Canis familiaris)
Mammalia -- 31
  • 95 (a)
OneToMany
LOC102153143 30
  • 91.54 (n)
-- 31
  • 55 (a)
OneToMany
-- 31
  • 32 (a)
OneToMany
Mouse
(Mus musculus)
Mammalia 2410131K14Rik 30 31
  • 85.53 (n)
OneToOne
Spring1 17
Rat
(Rattus norvegicus)
Mammalia RGD1562310 30
  • 85.37 (n)
Oppossum
(Monodelphis domestica)
Mammalia C12orf49 31
  • 69 (a)
OneToOne
Chicken
(Gallus gallus)
Aves C15H12ORF49 30 31
  • 80.81 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia C12orf49 31
  • 74 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia c12orf49 30
  • 72.41 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.4670 30
Zebrafish
(Danio rerio)
Actinopterygii C5H12orf49 31
  • 79 (a)
OneToOne
zgc:110063 30
  • 74.24 (n)
Dr.15241 30
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.554 30
Fruit Fly
(Drosophila melanogaster)
Insecta CG15643 30 31
  • 56.52 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000855 30
  • 52.18 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 46 (a)
OneToOne
Species where no ortholog for SPRING1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for SPRING1 Gene

ENSEMBL:
Gene Tree for SPRING1 (if available)
TreeFam:
Gene Tree for SPRING1 (if available)

Paralogs for SPRING1 Gene

genes like me logo Genes that share paralogs with SPRING1: view

No data available for Paralogs for SPRING1 Gene

Variants for SPRING1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SPRING1 Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
782333 Benign: not provided 116,723,068(-) G/A SYNONYMOUS_VARIANT,INTRON_VARIANT
rs10507274 - p.Gln55Arg

Additional dbSNP identifiers (rs#s) for SPRING1 Gene

Structural Variations from Database of Genomic Variants (DGV) for SPRING1 Gene

Variant ID Type Subtype PubMed ID
esv3630848 CNV gain 21293372
nsv1039046 CNV gain 25217958
nsv832523 CNV gain+loss 17160897

Variation tolerance for SPRING1 Gene

Residual Variation Intolerance Score: 65.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.48; 55.08% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SPRING1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SPRING1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SPRING1 Gene

Disorders for SPRING1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for SPRING1 Gene - From: GeneCards

Disorder Aliases PubMed IDs
complex chromosomal rearrangement
- elite association - COSMIC cancer census association via MalaCards
genes like me logo Genes that share disorders with SPRING1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SPRING1 Gene

Publications for SPRING1 Gene

  1. Haploid genetic screens identify SPRING/C12ORF49 as a determinant of SREBP signaling and cholesterol metabolism. (PMID: 32111832) Loregger A … Zelcer N (Nature communications 2020) 2 3
  2. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3
  3. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3
  4. RNA sequencing of esophageal adenocarcinomas identifies novel fusion transcripts, including NPC1-MELK, arising from a complex chromosomal rearrangement. (PMID: 28640357) Wang Z … Meltzer SJ (Cancer 2017) 3
  5. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T … Vidal M (Cell 2014) 3

No data available for Mastermind for SPRING1 Gene

Products for SPRING1 Gene

  • Signalway Proteins for SPRING1

Sources for SPRING1 Gene