STARD3 - StAR related lipid transfer domain containing 3 Gene

Homo sapiens

Also known as CAB1; es64; MLN64

Gene ID: 10948 | Gene type: protein coding

About STARD3

Cytogenetic location: 17q12 Genomic coordinates (GRCh38): 17:39,637,144-39,664,201 (from NCBI)

This gene has 29 transcripts (splice variants), 212 orthologues and 5 paralogues. Ubiquitous expression in testis (RPKM 14.1), spleen (RPKM 13.2) and 25 other tissues.

Summary

This gene encodes a member of a subfamily of lipid trafficking proteins that are characterized by a C-terminal steroidogenic acute regulatory domain and an N-terminal metastatic lymph node 64 domain. The encoded protein localizes to the membranes of late endosomes and may be involved in exporting Cholesterol. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Oct 2009]

STARD3 Products(3)

mRNA	Protein	Name
NM_001165937.2	NP_001159409.1	stAR-related lipid transfer protein 3 isoform 2
NM_001165938.2	NP_001159410.1	stAR-related lipid transfer protein 3 isoform 3
NM_006804.4	NP_006795.3	stAR-related lipid transfer protein 3 isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables cholesterol binding	IDA IDA: Inferred from direct assay	12011453	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	15718238	GOA
enables protein homodimerization activity	IDA IDA: Inferred from direct assay	15718238	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in cholesterol transport	IDA IDA: Inferred from direct assay	28377464	GOA
involved in vesicle tethering to endoplasmic reticulum	IDA IDA: Inferred from direct assay	24105263	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
colocalizes with endoplasmic reticulum membrane	IDA IDA: Inferred from direct assay	24105263	GOA
located in endoplasmic reticulum-endosome membrane contact site	IDA IDA: Inferred from direct assay	24105263	GOA
located in endosome	IDA IDA: Inferred from direct assay	29858488	GOA
located in late endosome membrane	IDA IDA: Inferred from direct assay	24105263	GOA
located in organelle membrane contact site	IDA IDA: Inferred from direct assay	24105263	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

STARD3 Protein Structure

MENTAL

START

0
100
200
300
400
445 a.a.

Protein Preferred Names

Protein Names

stAR-related lipid transfer protein 3

MLN 64

STARD3 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	STARD3	Q14849	RNF170	Homo sapiens	Q96K19-5	Y2H Prey Pooling	32296183
Intra	STARD3	Q14849	RNF170	Homo sapiens	Q96K19-5	Validated Y2H	32296183
Intra	STARD3	Q14849	RNF170	Homo sapiens	Q96K19-5	Y2H Array	32296183
Intra	STARD3	Q14849	AQP6	Homo sapiens	Q13520	Y2H Prey Pooling	32296183
Intra	STARD3	Q14849	AQP6	Homo sapiens	Q13520	Y2H Array	32296183
Intra	STARD3	Q14849	MOSPD2	Homo sapiens	Q8NHP6	Pull Down	29858488
Intra	STARD3	Q14849	MOSPD2	Homo sapiens	Q8NHP6	Anti Tag CoIP	29858488
Intra	STARD3	Q14849	MOSPD2	Homo sapiens	Q8NHP6	Confocal	29858488
Intra	STARD3	Q14849	GOPC	Homo sapiens	Q9HD26	Y2H Array	25416956
Intra	STARD3	Q14849	CBARP	Homo sapiens	Q8N350	Anti Tag CoIP	33961781
Intra	STARD3	Q14849	CBARP	Homo sapiens	Q8N350	Anti Tag CoIP	28514442

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Breast Cancer

Breast Carcinoma	Male Breast Cancer
Breast Cancer, Familial	Malignant Neoplasm Of Breast
Breast Cancer, Susceptibility To	Breast Cancer, Early-Onset
Malignant Tumor Of Breast	Carcinoma Of Male Breast
Breast Cancer, Invasive Ductal	Breast Cancer, Protection Against
Breast Cancer, Somatic	Breast Cancer, Male
Breast Cancer, Lobular, Somatic	Breast Tumor
Mammary Cancer	Mammary Tumor
Malignant Neoplasm Of Male Breast	Mammary Carcinoma
Male Breast Carcinoma	Familial Cancer Of Breast
Invasive Ductal Breast Carcinoma	Breast Cancer Susceptibility
Breast Cancer, Male, Susceptibility To	Breast Cancer, Early-Onset, Susceptibility To
Malignant Tumor Of The Breast	Mammary Neoplasm
Primary Breast Cancer	Neoplasm Of Male Breast
Carcinoma Of Breast	Breast Cancer In Men
Familial Breast Cancer	Cancer Of Breast
BC	Breast Cancer Familial
Breast Cancer Familial Male	Breast Cancer, Familial Male
Breast Male Carcinoma	Breast Neoplasms
Breast Neoplasms, Male	Mammary Tumors
Mammary Carcinomas	Cancer, Breast
Cancer, Breast, Susceptibility	Invasive Breast Ductal Carcinoma
Breast Neoplasm	Susceptibility To Breast Cancer
Mammary Neoplasms	Animal Mammary Neoplasms
Primary Malignant Neoplasm Of Breast	Infiltrating Ductal Carcinoma Of Breast
Infiltrating Duct Carcinoma Of Unspecified Site	Infiltrating Ductular Carcinoma Of Unspecified Site
Invasive Breast Carcinoma Of No Special Type	Microinvasive Carcinoma Of Breast
Carcinoma With Apocrine Differentiation

C Syndrome

Opitz Trigonocephaly Syndrome	Trigonocephaly
Trigonocephaly Syndrome	Trigonocephaly C Syndrome
Opitz C Trigonocephaly	Opitz Trigonocephaly C Syndrome
Otcs	CSYN

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 (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS13878	STARD3 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-RS13879	STARD3NL Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	STARD3	VGNC	VGNC:65753
Canis familiaris	STARD3	VGNC	VGNC:46882
Mus musculus	STARD3	MGD	MGI:1929618
Bos taurus	STARD3	VGNC	VGNC:35363
Rattus norvegicus	STARD3	RGD	RGD:1549768
Macaca mulatta	STARD3	VGNC	VGNC:77941

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