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    SPRING1 SREBF pathway regulator in golgi 1 [ Homo sapiens (human) ]

    Gene ID: 79794, updated on 5-Mar-2024

    Summary

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    Official Symbol
    SPRING1provided by HGNC
    Official Full Name
    SREBF pathway regulator in golgi 1provided by HGNC
    Primary source
    HGNC:HGNC:26128
    See related
    Ensembl:ENSG00000111412 AllianceGenome:HGNC:26128
    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
    LUR1; POST1; SPRING; C12orf49
    Summary
    Involved in positive regulation of SREBP signaling pathway. Located in Golgi membrane. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Broad expression in thyroid (RPKM 43.0), lung (RPKM 18.5) and 21 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    12q24.22
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (116710171..116738069, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (116691314..116719214, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (117147976..117175874, complement)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:116996681-116997190 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7095 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7096 Neighboring gene Sharpr-MPRA regulatory region 12411 Neighboring gene microtubule associated protein 1 light chain 3 beta 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:117010377-117010877 Neighboring gene Sharpr-MPRA regulatory region 4921 Neighboring gene uncharacterized LOC124903028 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:117096334-117096837 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:117100573-117101197 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:117103598-117104149 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7097 Neighboring gene long intergenic non-protein coding RNA 3088 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7098 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7099 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:117154997-117155526 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr12:117155527-117156056 Neighboring gene NANOG hESC enhancer GRCh37_chr12:117164433-117164934 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:117174416-117175374 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4904 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4905 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7100 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr12:117197536-117198735 Neighboring gene ring finger protein, transmembrane 2 Neighboring gene ribosomal protein L21 pseudogene 105 Neighboring gene RNA, U6 small nuclear 558, pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. Chromosome 12 Open Reading Frame 49 Promotes Tumor Growth and Predicts Poor Prognosis in Colorectal Cancer. Tao Y, et al. Dig Dis Sci, 2023 Apr. PMID 36348128, Free PMC Article
    2. Metabolic coessentiality mapping identifies C12orf49 as a regulator of SREBP processing and cholesterol metabolism. Bayraktar EC, et al. Nat Metab, 2020 Jun. PMID 32694732, Free PMC Article
    3. POST1/C12ORF49 regulates the SREBP pathway by promoting site-1 protease maturation. Xiao J, et al. Protein Cell, 2021 Apr. PMID 32666500, Free PMC Article
    4. RNA sequencing of esophageal adenocarcinomas identifies novel fusion transcripts, including NPC1-MELK, arising from a complex chromosomal rearrangement. Wang Z, et al. Cancer, 2017 Oct 15. PMID 28640357, Free PMC Article
    5. Identification of genes associated with chemosensitivity to SAHA/taxane combination treatment in taxane-resistant breast cancer cells. Chang H, et al. Breast Cancer Res Treat, 2011 Jan. PMID 20224928

    See all (18) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Chromosome 12 Open Reading Frame 49 Promotes Tumor Growth and Predicts Poor Prognosis in Colorectal Cancer.
      Title: Chromosome 12 Open Reading Frame 49 Promotes Tumor Growth and Predicts Poor Prognosis in Colorectal Cancer.
    2. POST1/C12ORF49 regulates the SREBP pathway by promoting site-1 protease maturation.
      Title: POST1/C12ORF49 regulates the SREBP pathway by promoting site-1 protease maturation.
    3. Metabolic coessentiality mapping identifies C12orf49 as a regulator of SREBP processing and cholesterol metabolism.
      Title: Metabolic coessentiality mapping identifies C12orf49 as a regulator of SREBP processing and cholesterol metabolism.
    4. Systematic mapping of genetic interactions for de novo fatty acid synthesis identifies C12orf49 as a regulator of lipid metabolism.
      Title: Systematic mapping of genetic interactions for de novo fatty acid synthesis identifies C12orf49 as a regulator of lipid metabolism.
    5. Sterol-regulatory element binding proteins (SREBP) regulating gene (SPRING/C12ORF49) is a glycosylated Golgi membrane protein and its ablation reduces SREBP signaling. Attenuated SREBP signaling in SPRING(KO) cells results from reduced SREBP cleavage-activating protein (SCAP) and its mislocalization to Golgi irrespective of cellular sterol status. A wide range of tumor cell lines display dependency on SPRING expression.
      Title: Haploid genetic screens identify SPRING/C12ORF49 as a determinant of SREBP signaling and cholesterol metabolism.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ21415

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in positive regulation of SREBP signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in Golgi membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    SREBP regulating gene protein
    Names
    UPF0454 protein C12orf49
    partner of site-1 protease

    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_001353623.2 → NP_001340552.1  SREBP regulating gene protein isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC090013, AC125603, AK309652, BG537618, BQ006142
      UniProtKB/TrEMBL
      B7Z5F0
      Conserved Domains (1) summary
      pfam10218
      Location:60 → 165
      DUF2054; Uncharacterized conserved protein (DUF2054)

    2. NM_001353624.2 → NP_001340553.1  SREBP regulating gene protein isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC090013, AC125603, BQ006142
      Conserved Domains (1) summary
      pfam10218
      Location:36 → 92
      DUF2054; Uncharacterized conserved protein (DUF2054)

    3. NM_001353625.2 → NP_001340554.1  SREBP regulating gene protein isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC090013, AC125603, AK309652, BC019843, BG537618, BQ006142
      Conserved Domains (1) summary
      pfam10218
      Location:37 → 54
      DUF2054; Uncharacterized conserved protein (DUF2054)

    4. NM_024738.4 → NP_079014.1  SREBP regulating gene protein isoform 1

      See identical proteins and their annotated locations for NP_079014.1

      Status: VALIDATED

      Source sequence(s)
      AC090013, AC125603, BC019843, BG537618, BQ006142
      Consensus CDS
      CCDS9179.1
      UniProtKB/Swiss-Prot
      Q53GE8, Q9H741
      Related
      ENSP00000261318.3, ENST00000261318.5
      Conserved Domains (1) summary
      pfam10218
      Location:72 → 195
      DUF2054; Uncharacterized conserved protein (DUF2054)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      116710171..116738069 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024449189.2 → XP_024304957.1  SREBP regulating gene protein isoform X1

      Conserved Domains (1) summary
      pfam10218
      Location:73 → 196
      DUF2054; Uncharacterized conserved protein (DUF2054)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      116691314..116719214 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054373243.1 → XP_054229218.1  SREBP regulating gene protein isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9H741.1 GenPept UniProtKB/Swiss-Prot:Q9H741

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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