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

Gene ID: 9754, updated on 2-Nov-2024

Summary

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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
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Genomic context

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See STARD8 in Genome Data Viewer
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_000023.11Genomic Context describing neighboring genes Neighboring gene ribosomal protein L31 pseudogene 63 Neighboring gene cytochrome c oxidase subunit 6C pseudogene 12 Neighboring gene ReSE screen-validated silencer GRCh37_chrX:67899756-67899932 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:67900175-67900675 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20886 Neighboring gene ACTR3 pseudogene 2 Neighboring gene SERPINE1 mRNA binding protein 1 pseudogene 1

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. The origin of EFNB1 mutations in craniofrontonasal syndrome: frequent somatic mosaicism and explanation of the paucity of carrier males. Twigg SR, et al. Am J Hum Genet, 2006 Jun. PMID 16685650, Free PMC Article
  2. DLC3 suppresses MT1-MMP-dependent matrix degradation by controlling RhoB and actin remodeling at endosomal membranes. Noll B, et al. J Cell Sci, 2019 Jun 5. PMID 31076513
  3. Regional bias of tumor suppressor gene mutations of STARD8 and WNK2 in colon cancers. Mo HY, et al. Pathol Res Pract, 2024 Jan. PMID 38091885
  4. Deleted in liver cancer 3 (DLC-3), a novel Rho GTPase-activating protein, is downregulated in cancer and inhibits tumor cell growth. Durkin ME, et al. Oncogene, 2007 Jul 5. PMID 17297465
  5. PYCR1, BANF1, and STARD8 Expression in Gastric Carcinoma: A Clinicopathologic, Prognostic, and Immunohistochemical Study. Harb OA, et al. Appl Immunohistochem Mol Morphol, 2024 Feb 1. PMID 37982568

See all (20) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. 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.
  4. 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.
  5. 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.
  6. 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.
  7. 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.
  8. Observational study of gene-disease association. (HuGE Navigator)
    Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
Submit: New GeneRIF Correction

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)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • KIAA0189, DKFZp686H1668

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

  1. NG_016856.1 RefSeqGene

    Range
    4998..83168
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. 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 )

  2. 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 ...

  3. 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

  1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

    Range
    68647666..68725836
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. 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 )

  2. XM_011531069.4 → XP_011529371.2  stAR-related lipid transfer protein 8 isoform X1

  3. 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 ...

  4. XM_047442679.1 → XP_047298635.1  stAR-related lipid transfer protein 8 isoform X3

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060947.1 Alternate T2T-CHM13v2.0

    Range
    67081162..67159288
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054328183.1 → XP_054184158.1  stAR-related lipid transfer protein 8 isoform X2

  2. XM_054328182.1 → XP_054184157.1  stAR-related lipid transfer protein 8 isoform X1

  3. XM_054328185.1 → XP_054184160.1  stAR-related lipid transfer protein 8 isoform X4

  4. XM_054328184.1 → XP_054184159.1  stAR-related lipid transfer protein 8 isoform X3

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q92502.2 GenPept UniProtKB/Swiss-Prot:Q92502

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