SCAP SREBF chaperone [Homo sapiens (human)] - Gene

Summary

Official Symbol: SCAPprovided by HGNC
Official Full Name: SREBF chaperoneprovided by HGNC
Primary source: HGNC:HGNC:30634
See related: Ensembl:ENSG00000114650 MIM:601510; AllianceGenome:HGNC:30634
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: mouse all
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Genomic context

Location:: 3p21.31

Exon count:: 29

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (47413681..47477127, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (47430101..47496247, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (47455171..47517431, complement)

Chromosome 3 - NC_000003.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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?

The Role of SCAP/SREBP as Central Regulators of Lipid Metabolism in Hepatic Steatosis.
Title: The Role of SCAP/SREBP as Central Regulators of Lipid Metabolism in Hepatic Steatosis.
SARS-CoV-2 nucleocapsid protein promotes TMAO-induced NLRP3 inflammasome activation by SCAP-SREBP signaling pathway.
Title: SARS-CoV-2 nucleocapsid protein promotes TMAO-induced NLRP3 inflammasome activation by SCAP-SREBP signaling pathway.
Deficiency of SCAP inhibits HBV pathogenesis via activation of the interferon signaling pathway.
Title: Deficiency of SCAP inhibits HBV pathogenesis via activation of the interferon signaling pathway.
Structural basis for sterol sensing by Scap and Insig.
Title: Structural basis for sterol sensing by Scap and Insig.
Discovery of a potent SCAP degrader that ameliorates HFD-induced obesity, hyperlipidemia and insulin resistance via an autophagy-independent lysosomal pathway.
Title: Discovery of a potent SCAP degrader that ameliorates HFD-induced obesity, hyperlipidemia and insulin resistance via an autophagy-independent lysosomal pathway.
PKM2-TMEM33 axis regulates lipid homeostasis in cancer cells by controlling SCAP stability.
Title: PKM2-TMEM33 axis regulates lipid homeostasis in cancer cells by controlling SCAP stability.
The ER cholesterol sensor SCAP promotes CARTS biogenesis at ER-Golgi membrane contact sites.
Title: The ER cholesterol sensor SCAP promotes CARTS biogenesis at ER-Golgi membrane contact sites.
A structure of human Scap bound to Insig-2 suggests how their interaction is regulated by sterols.
Title: A structure of human Scap bound to Insig-2 suggests how their interaction is regulated by sterols.
Ring finger protein 5 activates sterol regulatory element-binding protein 2 (SREBP2) to promote cholesterol biosynthesis via inducing polyubiquitination of SREBP chaperone SCAP.
Title: Ring finger protein 5 activates sterol regulatory element-binding protein 2 (SREBP2) to promote cholesterol biosynthesis via inducing polyubiquitination of SREBP chaperone SCAP.
Interaction between lifestyle behaviors and genetic polymorphism in SCAP gene on blood pressure among Chinese children.
Title: Interaction between lifestyle behaviors and genetic polymorphism in SCAP gene on blood pressure among Chinese children.

Submit: New GeneRIF Correction See all GeneRIFs (36)

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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

STS-D83782 (e-PCR)
- UniSTS:45661

RH47493 (e-PCR)
- UniSTS:76657

RH91891 (e-PCR)
- UniSTS:88778

SHGC-76917 (e-PCR)
- UniSTS:49149

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein-containing complex binding	IEA Inferred from Electronic Annotation more info
enables sterol binding	ISS Inferred from Sequence or Structural Similarity more info
enables unfolded protein binding	NAS Non-traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in COPII-coated vesicle cargo loading	ISS Inferred from Sequence or Structural Similarity more info
involved_in SREBP signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in SREBP signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cellular lipid metabolic process	IEA Inferred from Electronic Annotation more info
involved_in cholesterol metabolic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in immune response	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of cholesterol biosynthetic process	NAS Non-traceable Author Statement more info
involved_in positive regulation of cholesterol biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of cholesterol biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of fatty acid biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in response to hypoxia	IEA Inferred from Electronic Annotation more info
involved_in response to insulin	IEA Inferred from Electronic Annotation more info
involved_in response to vitamin B3	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in ER to Golgi transport vesicle membrane	IEA Inferred from Electronic Annotation more info
located_in Golgi apparatus	NAS Non-traceable Author Statement more info	PubMed
located_in Golgi membrane	IDA Inferred from Direct Assay more info	PubMed
located_in Golgi membrane	TAS Traceable Author Statement more info
part_of SREBP-SCAP complex	IBA Inferred from Biological aspect of Ancestor more info
located_in endoplasmic reticulum	NAS Non-traceable Author Statement more info	PubMed
is_active_in endoplasmic reticulum membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in endoplasmic reticulum membrane	IDA Inferred from Direct Assay more info	PubMed
located_in membrane	NAS Non-traceable Author Statement more info	PubMed

General protein information

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

Names: SREBP cleavage-activating protein

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)

NM_001320044.2 → NP_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:683 → 979

WD40; WD40 repeat [General function prediction only]

pfam12349
Location:53 → 202

Sterol-sensing; Sterol-sensing domain of SREBP cleavage-activation

sd00039
Location:703 → 749

7WD40; WD40 repeat [structural motif]

cl02567
Location:822 → 979

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 ...
NM_012235.4 → NP_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)

AC099778, BG179218, D83782

Consensus CDS

CCDS2755.2

UniProtKB/Swiss-Prot

Q12770, Q8N2E0, Q8WUA1

Related

ENSP00000265565.5, ENST00000265565.10

Conserved Domains (4) summary

COG2319
Location:939 → 1235

WD40; WD40 repeat [General function prediction only]

pfam12349
Location:308 → 457

Sterol-sensing; Sterol-sensing domain of SREBP cleavage-activation

sd00039
Location:959 → 1005

7WD40; WD40 repeat [structural motif]

cl02567
Location:1078 → 1235

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: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000003.12 Reference GRCh38.p14 Primary Assembly

Range

47413681..47477127 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011533501.2 → XP_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, Q8N2E0, Q8WUA1

Conserved Domains (4) summary

COG2319
Location:939 → 1235

WD40; WD40 repeat [General function prediction only]

pfam12349
Location:308 → 457

Sterol-sensing; Sterol-sensing domain of SREBP cleavage-activation

sd00039
Location:959 → 1005

7WD40; WD40 repeat [structural motif]

cl02567
Location:1078 → 1235

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 ...
XM_005264967.3 → XP_005265024.1 sterol regulatory element-binding protein cleavage-activating protein isoform X2

UniProtKB/TrEMBL

B7Z6H0

Conserved Domains (4) summary

COG2319
Location:938 → 1234

WD40; WD40 repeat [General function prediction only]

pfam12349
Location:308 → 457

Sterol-sensing; Sterol-sensing domain of SREBP cleavage-activation

sd00039
Location:958 → 1004

7WD40; WD40 repeat [structural motif]

cl02567
Location:1077 → 1234

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 ...
XM_047447740.1 → XP_047303696.1 sterol regulatory element-binding protein cleavage-activating protein isoform X2
XM_017005918.2 → XP_016861407.1 sterol regulatory element-binding protein cleavage-activating protein isoform X1

UniProtKB/Swiss-Prot

Q12770, Q8N2E0, Q8WUA1

Conserved Domains (4) summary

COG2319
Location:939 → 1235

WD40; WD40 repeat [General function prediction only]

pfam12349
Location:308 → 457

Sterol-sensing; Sterol-sensing domain of SREBP cleavage-activation

sd00039
Location:959 → 1005

7WD40; WD40 repeat [structural motif]

cl02567
Location:1078 → 1235

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 ...
XM_047447739.1 → XP_047303695.1 sterol regulatory element-binding protein cleavage-activating protein isoform X2
XM_047447737.1 → XP_047303693.1 sterol regulatory element-binding protein cleavage-activating protein isoform X2
XM_047447732.1 → XP_047303688.1 sterol regulatory element-binding protein cleavage-activating protein isoform X1

UniProtKB/Swiss-Prot

Q12770, Q8N2E0, Q8WUA1
XM_047447738.1 → XP_047303694.1 sterol regulatory element-binding protein cleavage-activating protein isoform X2
XM_047447734.1 → XP_047303690.1 sterol regulatory element-binding protein cleavage-activating protein isoform X1

UniProtKB/Swiss-Prot

Q12770, Q8N2E0, Q8WUA1
XM_047447736.1 → XP_047303692.1 sterol regulatory element-binding protein cleavage-activating protein isoform X1

UniProtKB/Swiss-Prot

Q12770, Q8N2E0, Q8WUA1
XM_047447733.1 → XP_047303689.1 sterol regulatory element-binding protein cleavage-activating protein isoform X1

UniProtKB/Swiss-Prot

Q12770, Q8N2E0, Q8WUA1
XM_047447735.1 → XP_047303691.1 sterol regulatory element-binding protein cleavage-activating protein isoform X1

UniProtKB/Swiss-Prot

Q12770, Q8N2E0, Q8WUA1

Related

ENSP00000497087.1, ENST00000648151.1
XM_047447744.1 → XP_047303700.1 sterol regulatory element-binding protein cleavage-activating protein isoform X7
XM_047447742.1 → XP_047303698.1 sterol regulatory element-binding protein cleavage-activating protein isoform X4
XM_047447741.1 → XP_047303697.1 sterol regulatory element-binding protein cleavage-activating protein isoform X3
XM_047447743.1 → XP_047303699.1 sterol regulatory element-binding protein cleavage-activating protein isoform X6
XM_011533502.4 → XP_011531804.1 sterol regulatory element-binding protein cleavage-activating protein isoform X5

UniProtKB/TrEMBL

A8K619

Conserved Domains (4) summary

COG2319
Location:558 → 854

WD40; WD40 repeat [General function prediction only]

sd00039
Location:578 → 624

7WD40; WD40 repeat [structural motif]

cl02567
Location:697 → 854

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:3 → 76

MMPL; MMPL family

Alternate T2T-CHM13v2.0

Genomic

NC_060927.1 Alternate T2T-CHM13v2.0

Range

47430101..47496247 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054345725.1 → XP_054201700.1 sterol regulatory element-binding protein cleavage-activating protein isoform X1
XM_054345727.1 → XP_054201702.1 sterol regulatory element-binding protein cleavage-activating protein isoform X2
XM_054345731.1 → XP_054201706.1 sterol regulatory element-binding protein cleavage-activating protein isoform X2
XM_054345722.1 → XP_054201697.1 sterol regulatory element-binding protein cleavage-activating protein isoform X1
XM_054345730.1 → XP_054201705.1 sterol regulatory element-binding protein cleavage-activating protein isoform X2
XM_054345728.1 → XP_054201703.1 sterol regulatory element-binding protein cleavage-activating protein isoform X2
XM_054345721.1 → XP_054201696.1 sterol regulatory element-binding protein cleavage-activating protein isoform X1
XM_054345729.1 → XP_054201704.1 sterol regulatory element-binding protein cleavage-activating protein isoform X2
XM_054345724.1 → XP_054201699.1 sterol regulatory element-binding protein cleavage-activating protein isoform X1
XM_054345726.1 → XP_054201701.1 sterol regulatory element-binding protein cleavage-activating protein isoform X1
XM_054345723.1 → XP_054201698.1 sterol regulatory element-binding protein cleavage-activating protein isoform X1
XM_054345733.1 → XP_054201708.1 sterol regulatory element-binding protein cleavage-activating protein isoform X4
XM_054345736.1 → XP_054201711.1 sterol regulatory element-binding protein cleavage-activating protein isoform X7
XM_054345732.1 → XP_054201707.1 sterol regulatory element-binding protein cleavage-activating protein isoform X3
XM_054345735.1 → XP_054201710.1 sterol regulatory element-binding protein cleavage-activating protein isoform X6
XM_054345734.1 → XP_054201709.1 sterol regulatory element-binding protein cleavage-activating protein isoform X5