1. Gene
  2. STARD4 - StAR related lipid transfer domain containing 4 Gene

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

STARD4 Protein Structure

START

START: START domain (14 - 204)

  • 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

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