STARD3 - StAR related lipid transfer domain containing 3 Gene

Also Known as CAB1; es64; MLN64

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 10948

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
Molecular Function GO Annotation Evidence References 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 References 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 References 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

MENTAL: Cholesterol-capturing domain (47 - 214)

START

START: START domain (241 - 442)

  • 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
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
STARD3 Q14849 RNF170 Homo sapiens Q96K19-5 32296183
Intra
STARD3 Q14849 RNF170 Homo sapiens Q96K19-5 32296183
Intra
STARD3 Q14849 RNF170 Homo sapiens Q96K19-5 32296183
Intra
STARD3 Q14849 AQP6 Homo sapiens Q13520 32296183
Intra
STARD3 Q14849 AQP6 Homo sapiens Q13520 32296183
Intra
STARD3 Q14849 MOSPD2 Homo sapiens Q8NHP6 29858488
Intra
STARD3 Q14849 MOSPD2 Homo sapiens Q8NHP6 29858488
Intra
STARD3 Q14849 MOSPD2 Homo sapiens Q8NHP6 29858488
Intra
STARD3 Q14849 GOPC Homo sapiens Q9HD26 25416956
Intra
STARD3 Q14849 CBARP Homo sapiens Q8N350 33961781
Intra
STARD3 Q14849 CBARP Homo sapiens Q8N350 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

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
Others STARD3 NCBI