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SCAP SREBF chaperone [ Homo sapiens (human) ]

Gene ID: 22937, updated on 8-Oct-2018

Summary

Official Symbol
SCAPprovided by HGNC
Official Full Name
SREBF chaperoneprovided by HGNC
Primary source
HGNC:HGNC:30634
See related
Ensembl:ENSG00000114650 MIM:601510; Vega:OTTHUMG00000125539
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary
This gene encodes a protein with a sterol sensing domain (SSD) and seven WD domains. In the presence of cholesterol, this protein binds to sterol regulatory element binding proteins (SREBPs) and mediates their transport from the ER to the Golgi. The SREBPs are then proteolytically cleaved and regulate sterol biosynthesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]
Expression
Ubiquitous expression in adrenal (RPKM 22.6), testis (RPKM 19.9) and 25 other tissues See more
Orthologs

Genomic context

See SCAP in Genome Data Viewer
Location:
3p21.31
Exon count:
25
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 3 NC_000003.12 (47413685..47477126, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (47455184..47517603, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene kinesin family member 9 Neighboring gene kelch like family member 18 Neighboring gene protein tyrosine phosphatase, non-receptor type 23 Neighboring gene uncharacterized LOC105377073 Neighboring gene bolA family member 2 pseudogene 2 Neighboring gene elongator acetyltransferase complex subunit 6 Neighboring gene uncharacterized LOC105377074

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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

  • Metabolism, organism-specific biosystem (from REACTOME)
    Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
  • Metabolism of lipids and lipoproteins, organism-specific biosystem (from REACTOME)
    Metabolism of lipids and lipoproteins, organism-specific biosystemLipids are hydrophobic but otherwise chemically diverse molecules that play a wide variety of roles in human biology. They include ketone bodies, fatty acids, triacylglycerols, phospholipids and sphi...
  • Regulation of cholesterol biosynthesis by SREBP (SREBF), organism-specific biosystem (from REACTOME)
    Regulation of cholesterol biosynthesis by SREBP (SREBF), organism-specific biosystemSterol regulatory element binding proteins (SREBPs, SREBFs) respond to low cholesterol concentrations by transiting to the nucleus and activating genes involved in cholesterol and lipid biosynthesis ...
  • Sterol Regulatory Element-Binding Proteins (SREBP) signalling, organism-specific biosystem (from WikiPathways)
    Sterol Regulatory Element-Binding Proteins (SREBP) signalling, organism-specific biosystemSterol regulatory element-binding proteins (SREBPs) are membrane-bound proteins that act as transcription factors. They regulate lipid, especially cholesterol, biosynthesis and uptake at a transcript...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA0199

Gene Ontology Provided by GOA

Function Evidence Code Pubs
cholesterol binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein-containing complex binding IEA
Inferred from Electronic Annotation
more info
 
unfolded protein binding NAS
Non-traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
SREBP signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
aging IEA
Inferred from Electronic Annotation
more info
 
cellular lipid metabolic process IEA
Inferred from Electronic Annotation
more info
 
cholesterol metabolic process IEA
Inferred from Electronic Annotation
more info
 
immune response IEA
Inferred from Electronic Annotation
more info
 
negative regulation of cholesterol biosynthetic process NAS
Non-traceable Author Statement
more info
PubMed 
positive regulation of low-density lipoprotein particle receptor biosynthetic process NAS
Non-traceable Author Statement
more info
PubMed 
regulation of fatty acid biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
response to hypoxia IEA
Inferred from Electronic Annotation
more info
 
response to insulin IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
ER to Golgi transport vesicle membrane IEA
Inferred from Electronic Annotation
more info
 
Golgi apparatus NAS
Non-traceable Author Statement
more info
PubMed 
Golgi membrane TAS
Traceable Author Statement
more info
 
endoplasmic reticulum NAS
Non-traceable Author Statement
more info
PubMed 
endoplasmic reticulum membrane IEA
Inferred from Electronic Annotation
more info
 
integral component of membrane NAS
Non-traceable Author Statement
more info
PubMed 
protein-containing complex IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
sterol regulatory element-binding protein cleavage-activating protein
Names
SREBP cleavage-activating protein

NCBI Reference Sequences (RefSeq)

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_001320044.1NP_001306973.1  sterol regulatory element-binding protein cleavage-activating protein isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) has multiple differences compared to variant 1. These differences result in a distinct 5' UTR and cause translation initiation at a downstream start codon, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
    Source sequence(s)
    AC099778, AK300311, BG179218, CN313163
    UniProtKB/TrEMBL
    B7Z6H0
    Conserved Domains (4) summary
    COG2319
    Location:683979
    WD40; WD40 repeat [General function prediction only]
    pfam12349
    Location:53202
    Sterol-sensing; Sterol-sensing domain of SREBP cleavage-activation
    sd00039
    Location:703749
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:822979
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
  2. NM_012235.3NP_036367.2  sterol regulatory element-binding protein cleavage-activating protein isoform 1

    See identical proteins and their annotated locations for NP_036367.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    BG179218, CN313163, D83782
    Consensus CDS
    CCDS2755.2
    UniProtKB/Swiss-Prot
    Q12770
    Related
    ENSP00000265565.5, OTTHUMP00000155199, ENST00000265565.9, OTTHUMT00000246872
    Conserved Domains (4) summary
    COG2319
    Location:9391235
    WD40; WD40 repeat [General function prediction only]
    pfam12349
    Location:308457
    Sterol-sensing; Sterol-sensing domain of SREBP cleavage-activation
    sd00039
    Location:9591005
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:10781235
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p12 Primary Assembly

    Range
    47413685..47477126 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011533501.1XP_011531803.1  sterol regulatory element-binding protein cleavage-activating protein isoform X1

    See identical proteins and their annotated locations for XP_011531803.1

    UniProtKB/Swiss-Prot
    Q12770
    Conserved Domains (4) summary
    COG2319
    Location:9391235
    WD40; WD40 repeat [General function prediction only]
    pfam12349
    Location:308457
    Sterol-sensing; Sterol-sensing domain of SREBP cleavage-activation
    sd00039
    Location:9591005
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:10781235
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
  2. XM_005264968.1XP_005265025.1  sterol regulatory element-binding protein cleavage-activating protein isoform X3

    Conserved Domains (4) summary
    COG2319
    Location:684980
    WD40; WD40 repeat [General function prediction only]
    pfam12349
    Location:53202
    Sterol-sensing; Sterol-sensing domain of SREBP cleavage-activation
    sd00039
    Location:704750
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:823980
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
  3. XM_017005921.1XP_016861410.1  sterol regulatory element-binding protein cleavage-activating protein isoform X6

    UniProtKB/Swiss-Prot
    Q12770
    Related
    ENSP00000438956.2, ENST00000545718.2
    Conserved Domains (4) summary
    COG2319
    Location:546842
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:566612
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:685842
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
    cl21543
    Location:165
    MMPL; MMPL family
  4. XM_005264971.1XP_005265028.1  sterol regulatory element-binding protein cleavage-activating protein isoform X5

    See identical proteins and their annotated locations for XP_005265028.1

    Conserved Domains (4) summary
    COG2319
    Location:547843
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:567613
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:686843
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
    cl21543
    Location:165
    MMPL; MMPL family
  5. XM_005264967.2XP_005265024.1  sterol regulatory element-binding protein cleavage-activating protein isoform X2

    Conserved Domains (4) summary
    COG2319
    Location:9381234
    WD40; WD40 repeat [General function prediction only]
    pfam12349
    Location:308457
    Sterol-sensing; Sterol-sensing domain of SREBP cleavage-activation
    sd00039
    Location:9581004
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:10771234
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
  6. XM_017005918.1XP_016861407.1  sterol regulatory element-binding protein cleavage-activating protein isoform X1

    UniProtKB/Swiss-Prot
    Q12770
    Related
    ENSP00000497087.1, ENST00000648151.1
    Conserved Domains (4) summary
    COG2319
    Location:9391235
    WD40; WD40 repeat [General function prediction only]
    pfam12349
    Location:308457
    Sterol-sensing; Sterol-sensing domain of SREBP cleavage-activation
    sd00039
    Location:9591005
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:10781235
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
  7. XM_011533502.3XP_011531804.1  sterol regulatory element-binding protein cleavage-activating protein isoform X4

    Conserved Domains (4) summary
    COG2319
    Location:558854
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:578624
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:697854
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
    cl21543
    Location:376
    MMPL; MMPL family
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