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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
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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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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

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