STARD8 StAR related lipid transfer domain containing 8 [Homo sapiens (human)] - Gene

Summary

Official Symbol: STARD8provided by HGNC
Official Full Name: StAR related lipid transfer domain containing 8provided by HGNC
Primary source: HGNC:HGNC:19161
See related: Ensembl:ENSG00000130052 MIM:300689; AllianceGenome:HGNC:19161
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
Also known as: DLC3; ARHGAP38; STARTGAP3
Summary: This gene encodes a member of a subfamily of Rho GTPase activating proteins that contain a steroidogenic acute regulatory protein related lipid transfer domain. The encoded protein localizes to focal adhesions and may be involved in regulating cell morphology. This protein may also function as a tumor suppressor. [provided by RefSeq, Mar 2010]
Expression: Broad expression in kidney (RPKM 8.5), fat (RPKM 6.6) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: Xq13.1

Exon count:: 18

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (68647666..68725836)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (67081162..67159288)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (67867508..67945678)

Chromosome X - NC_000023.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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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?

PYCR1, BANF1, and STARD8 Expression in Gastric Carcinoma: A Clinicopathologic, Prognostic, and Immunohistochemical Study.
Title: PYCR1, BANF1, and STARD8 Expression in Gastric Carcinoma: A Clinicopathologic, Prognostic, and Immunohistochemical Study.
Regional bias of tumor suppressor gene mutations of STARD8 and WNK2 in colon cancers.
Title: Regional bias of tumor suppressor gene mutations of STARD8 and WNK2 in colon cancers.
A conserved function of Human DLC3 and Drosophila Cv-c in testis development.
Title: A conserved function of Human DLC3 and Drosophila Cv-c in testis development.
The authors propose that DLC3 function is required to limit endosomal actin polymerization, Rab4-dependent recycling of MT1-MMP and, consequently, matrix degradation mediated by invadopodial activity.
Title: DLC3 suppresses MT1-MMP-dependent matrix degradation by controlling RhoB and actin remodeling at endosomal membranes.
a new function for Scribble in Rho regulation that entails positioning of DLC3 GAP activity at cell junctions in polarized epithelial cells, is reported.
Title: The polarity protein Scribble positions DLC3 at adherens junctions to regulate Rho signaling.
DLC3 is recruited to Rab8-positive membrane tubules and is required for the integrity of the Rab8 and Golgi compartments.
Title: The Rho-specific GAP protein DLC3 coordinates endocytic membrane trafficking.
Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
Observational study of gene-disease association. (HuGE Navigator)
Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.

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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

RH25403 (e-PCR)
- UniSTS:60448

STS-AA027102 (e-PCR)
- UniSTS:54885

DXS7459 (e-PCR)
- UniSTS:99018

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables GTPase activator activity	IBA Inferred from Biological aspect of Ancestor more info
enables lipid binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in actin cytoskeleton organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of Rho protein signal transduction	IBA Inferred from Biological aspect of Ancestor more info
involved_in signal transduction	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in focal adhesion	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: stAR-related lipid transfer protein 8

Names: START domain containing 8; StAR-related lipid transfer (START) domain containing 8; deleted in liver cancer 3 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.

Genomic

NG_016856.1 RefSeqGene

Range

4998..83168

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001142503.3 → NP_001135975.1 stAR-related lipid transfer protein 8 isoform a

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longer isoform (a).

Source sequence(s)

AL360076, AL732324, BC035587

Consensus CDS

CCDS48134.1

UniProtKB/TrEMBL

A0A2X0U2P1

Related

ENSP00000363727.3, ENST00000374599.8

Conserved Domains (3) summary

cd08907
Location:890 → 1094

START_STARD8-like; C-terminal lipid-binding START domain of mammalian STARD8 and related proteins, which also have an N-terminal Rho GTPase-activating protein (RhoGAP) domain

cl02570
Location:649 → 863

RhoGAP; RhoGAP: GTPase-activator protein (GAP) for Rho-like GTPases; GAPs towards Rho/Rac/Cdc42-like small GTPases. Small GTPases (G proteins) cluster into distinct families, and all act as molecular switches, active in their GTP-bound form but inactive when ...

cl15755
Location:31 → 90

SAM_superfamily; SAM (Sterile alpha motif )
NM_001142504.3 → NP_001135976.1 stAR-related lipid transfer protein 8 isoform b

See identical proteins and their annotated locations for NP_001135976.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) has multiple differences in the 5' coding region resulting in use of a downstream start codon, compared to variant 1. It encodes isoform b which has a shorter N-terminus than isoform a. Variants 2 and 3 both encode isoform b.

Source sequence(s)

AK291747, AL360076, BC035587, BQ019015

Consensus CDS

CCDS14390.1

UniProtKB/Swiss-Prot

A8K6T2, D3DVT9, Q5JST0, Q68DG7, Q92502

UniProtKB/TrEMBL

A0A2X0U2P1

Related

ENSP00000363725.3, ENST00000374597.3

Conserved Domains (2) summary

cd08907
Location:810 → 1014

START_STARD8-like; C-terminal lipid-binding START domain of mammalian STARD8 and related proteins, which also have an N-terminal Rho GTPase-activating protein (RhoGAP) domain

cl02570
Location:569 → 783

RhoGAP; RhoGAP: GTPase-activator protein (GAP) for Rho-like GTPases; GAPs towards Rho/Rac/Cdc42-like small GTPases. Small GTPases (G proteins) cluster into distinct families, and all act as molecular switches, active in their GTP-bound form but inactive when ...
NM_014725.5 → NP_055540.2 stAR-related lipid transfer protein 8 isoform b

See identical proteins and their annotated locations for NP_055540.2

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an exon resulting in use of a downstream start codon, compared to variant 1. It encodes isoform b, which has a shorter N-terminus than isoform a. Variants 2 and 3 both encode isoform b.

Source sequence(s)

AL360076, AL732324, BC035587

Consensus CDS

CCDS14390.1

UniProtKB/Swiss-Prot

A8K6T2, D3DVT9, Q5JST0, Q68DG7, Q92502

UniProtKB/TrEMBL

A0A2X0U2P1

Related

ENSP00000252336.6, ENST00000252336.10

Conserved Domains (2) summary

cd08907
Location:810 → 1014

START_STARD8-like; C-terminal lipid-binding START domain of mammalian STARD8 and related proteins, which also have an N-terminal Rho GTPase-activating protein (RhoGAP) domain

cl02570
Location:569 → 783

RhoGAP; RhoGAP: GTPase-activator protein (GAP) for Rho-like GTPases; GAPs towards Rho/Rac/Cdc42-like small GTPases. Small GTPases (G proteins) cluster into distinct families, and all act as molecular switches, active in their GTP-bound form but inactive when ...

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_000023.11 Reference GRCh38.p14 Primary Assembly

Range

68647666..68725836

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_005262314.5 → XP_005262371.1 stAR-related lipid transfer protein 8 isoform X2

UniProtKB/TrEMBL

A0A2X0U2P1

Conserved Domains (3) summary

cd08907
Location:894 → 1098

START_STARD8-like; C-terminal lipid-binding START domain of mammalian STARD8 and related proteins, which also have an N-terminal Rho GTPase-activating protein (RhoGAP) domain

cl02570
Location:653 → 867

RhoGAP; RhoGAP: GTPase-activator protein (GAP) for Rho-like GTPases; GAPs towards Rho/Rac/Cdc42-like small GTPases. Small GTPases (G proteins) cluster into distinct families, and all act as molecular switches, active in their GTP-bound form but inactive when ...

cl15755
Location:31 → 90

SAM_superfamily; SAM (Sterile alpha motif )
XM_011531069.4 → XP_011529371.2 stAR-related lipid transfer protein 8 isoform X1
XM_005262315.4 → XP_005262372.1 stAR-related lipid transfer protein 8 isoform X4

See identical proteins and their annotated locations for XP_005262372.1

UniProtKB/TrEMBL

A0A2X0U2P1

Conserved Domains (2) summary

cd08907
Location:814 → 1018

START_STARD8-like; C-terminal lipid-binding START domain of mammalian STARD8 and related proteins, which also have an N-terminal Rho GTPase-activating protein (RhoGAP) domain

cl02570
Location:573 → 787

RhoGAP; RhoGAP: GTPase-activator protein (GAP) for Rho-like GTPases; GAPs towards Rho/Rac/Cdc42-like small GTPases. Small GTPases (G proteins) cluster into distinct families, and all act as molecular switches, active in their GTP-bound form but inactive when ...
XM_047442679.1 → XP_047298635.1 stAR-related lipid transfer protein 8 isoform X3

Alternate T2T-CHM13v2.0

Genomic

NC_060947.1 Alternate T2T-CHM13v2.0

Range

67081162..67159288

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054328183.1 → XP_054184158.1 stAR-related lipid transfer protein 8 isoform X2
XM_054328182.1 → XP_054184157.1 stAR-related lipid transfer protein 8 isoform X1
XM_054328185.1 → XP_054184160.1 stAR-related lipid transfer protein 8 isoform X4
XM_054328184.1 → XP_054184159.1 stAR-related lipid transfer protein 8 isoform X3