STARD4 - StAR related lipid transfer domain containing 4 Gene

Homo sapiens

Gene ID: 134429 | Gene type: protein coding

About STARD4

Cytogenetic location: 5q22.1 Genomic coordinates (GRCh38): 5:111,496,033-111,512,535 (from NCBI)

This gene has 12 transcripts (splice variants), 162 orthologues and 5 paralogues. Ubiquitous expression in duodenum (RPKM 9.8), small intestine (RPKM 9.3) and 22 other tissues.

Summary

Cholesterol homeostasis is regulated, at least in part, by sterol regulatory element (SRE)-binding proteins (e.g., SREBP1; MIM 184756) and by liver X receptors (e.g., LXRA; MIM 602423). Upon sterol depletion, LXRs are inactive and SREBPs are cleaved, after which they bind promoter SREs and activate genes involved in Cholesterol biosynthesis and uptake. Sterol transport is mediated by vesicles or by soluble protein carriers, such as steroidogenic acute regulatory protein (STAR; MIM 600617). STAR is homologous to a family of proteins containing a 200- to 210-amino acid STAR-related lipid transfer (START) domain, including STARD4 (Soccio et al., 2002 [PubMed 12011452]).[supplied by OMIM, Mar 2008]

STARD4 Products(7)

mRNA	Protein	Name
NM_001308056.2	NP_001294985.1	stAR-related lipid transfer protein 4 isoform a
NM_001308057.2	NP_001294986.1	stAR-related lipid transfer protein 4 isoform b
NM_001308058.2	NP_001294987.1	stAR-related lipid transfer protein 4 isoform b
NM_001308059.2	NP_001294988.1	stAR-related lipid transfer protein 4 isoform c
NM_001308060.2	NP_001294989.1	stAR-related lipid transfer protein 4 isoform d
NM_001308061.2	NP_001294990.1	stAR-related lipid transfer protein 4 isoform c
NM_139164.3	NP_631903.1	stAR-related lipid transfer protein 4 isoform a

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables cholesterol binding	IDA IDA: Inferred from direct assay	18403318	GOA
enables cholesterol transfer activity	IDA IDA: Inferred from direct assay	18403318	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	32296183	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in cholesterol import	IDA IDA: Inferred from direct assay	18403318	GOA
involved in cholesterol transport involved in cholesterol storage	IDA IDA: Inferred from direct assay	18403318	GOA
involved in intracellular cholesterol transport	IDA IDA: Inferred from direct assay	18403318	GOA
involved in positive regulation of bile acid biosynthetic process	IDA IDA: Inferred from direct assay	18403318	GOA
involved in positive regulation of cholesterol metabolic process	IDA IDA: Inferred from direct assay	18403318	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in cytoplasm	IDA IDA: Inferred from direct assay	21767660	GOA
located in cytoplasmic vesicle	IDA IDA: Inferred from direct assay	21767660	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

STARD4 Protein Structure

START

0
100
205 a.a.

Protein Preferred Names

Protein Names

stAR-related lipid transfer protein 4

START domain containing 4, sterol regulated

Related Diseases

Diseases

Alias

Lipoid Congenital Adrenal Hyperplasia

Congenital Adrenal Hyperplasia	Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Congenital Lipoid Adrenal Hyperplasia	Lipoid Cah
Lipoid Adrenal Hyperplasia	Adrenal Hyperplasia 1
Cah	Clah
LCAH	Adrenal Hyperplasia I
Lipoid Hyperplasia, Congenital, Of Adrenal Cortex With Male Pseudohermaphroditism	Congenital Adrenal Hyperplasia Lipoid
Adrenal Hyperplasia, Congenital	Congenital Adrenal Hyperplasia, Lipoid
AH1	Congenital Lipoid Hyperplasia Of Adrenal Cortex With Male Pseudohermaphroditism
Adrenal Hyperplasia Congenital	Hyperplasia, Adrenal, Lipoid, Congenital
Congenital Adrenogenital Disorders Associated With Enzyme Deficiency	Congenital Adrenal Cortical Hyperplasia
Congenital Adrenal Gland Hyperplasia	Congenital Adrenogenital Syndrome
Congenital Hyperadrenocorticism	Congenital Adrenogenitalism
Congenital Female Adrenal Pseudohermaphroditism

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS13880	STARD4 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	STARD4	VGNC	VGNC:102336
Canis familiaris	STARD4	VGNC	VGNC:46884
Macaca mulatta	STARD4	VGNC	VGNC:77947
Rattus norvegicus	STARD4	RGD	RGD:1309475
Mus musculus	STARD4	MGD	MGI:2156764
Bos taurus	STARD4	VGNC	VGNC:35365

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