STRA6 signaling receptor and transporter of retinol STRA6 [Homo sapiens (human)] - Gene

Summary

Official Symbol: STRA6provided by HGNC
Official Full Name: signaling receptor and transporter of retinol STRA6provided by HGNC
Primary source: HGNC:HGNC:30650
See related: Ensembl:ENSG00000137868 MIM:610745
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: MCOPS9; MCOPCB8; PP14296
Summary: The protein encoded by this gene is a membrane protein involved in the metabolism of retinol. The encoded protein acts as a receptor for retinol/retinol binding protein complexes. This protein removes the retinol from the complex and transports it across the cell membrane. Defects in this gene are a cause of syndromic microphthalmia type 9 (MCOPS9). Several transcript variants encoding a few different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]
Expression: Biased expression in placenta (RPKM 6.8), endometrium (RPKM 4.0) and 6 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 15q24.1

Exon count:: 26

Annotation release	Status	Assembly	Chr	Location
109.20210226	current	GRCh38.p13 (GCF_000001405.39)	15	NC_000015.10 (74179466..74212267, complement)
105.20201022	previous assembly	GRCh37.p13 (GCF_000001405.25)	15	NC_000015.9 (74471807..74502046, complement)

Chromosome 15 - NC_000015.10 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
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?

Electronegative low-density lipoprotein of patients with metabolic syndrome induces pathogenesis of aorta through disruption of the stimulated by retinoic acid 6 cascade.
Title: Electronegative low-density lipoprotein of patients with metabolic syndrome induces pathogenesis of aorta through disruption of the stimulated by retinoic acid 6 cascade.
STRA6 is down-regulated by miR-873 and plays an oncogenic role by activating Wnt/beta-catenin signalling in GC.
Title: STRA6 exerts oncogenic role in gastric tumorigenesis by acting as a crucial target of miR-873.
SRC-2 is required for full induction of the retinol transporter, stimulated by retinoic acid 6 (STRA6), which is essential for endometrial stromal cell decidualization.
Title: Retinoid signaling controlled by SRC-2 in decidualization revealed by transcriptomics
significant association between STRA6 polymorphism and Gestational diabetes mellitus in Chinese Han population
Title: Association of polymorphisms in STRA6 gene with gestational diabetes mellitus in a Chinese Han population.
We demonstrate that mutations in STRA6 are the cause for syndromic anophthalmia in the original Matthew-Wood patient
Title: Novel STRA6 null mutations in the original family described with Matthew-Wood syndrome.
Mutations in retinoic acid 6 gene (STRA6) have been reported in clinically diagnosed patients with MWS. Here we presented a case with MWS, who has characteristic findings of the syndrome as well as dextrocardia as an undescribed feature, and bilateral streak gonads which was described only in one patient previously. Molecular analysis showed a homozygous exonic missense mutation in the STRA6 gene.
Title: MATTHEW-WOOD SYNDROME: A CASE WITH DEXTROCARDIA AND STREAK GONADS.
The knockdown of STRA6 slightly enhanced nodule formation at the late stage of osteoblast differentiation, and overexpression of STRA6 in ST2 cells enhanced adipocyte differentiation.
Title: STRA6 as a possible candidate gene for pathogenesis of osteoporosis from RNA‑seq analysis of human mesenchymal stem cells.
these data demonstrate a key role of STRA6 and RBP4 in the maintenance of colon cancer self-renewal and that this pathway is an important link through which consumption of HFD contributes to colon carcinogenesis.
Title: RBP4-STRA6 Pathway Drives Cancer Stem Cell Maintenance and Mediates High-Fat Diet-Induced Colon Carcinogenesis.
this study suggested that a role of STRA6 polymorphism could also be of value in predicting the risk of type 2 diabetes mellitus(T2DM) while RARRES2 polymorphism could not predict the risk of T2DM
Title: Association of Polymorphisms in STRA6 and RARRES2 Genes with Type 2 Diabetes in Southern Han Chinese.
A novel mutation in two Hmong families broadens the range of STRA6-related malformations to include contractures and camptodactyly.
Title: A novel mutation in two Hmong families broadens the range of STRA6-related malformations to include contractures and camptodactyly.

Submit: New GeneRIF Correction See all GeneRIFs (29)

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

Associated conditions

Description	Tests
Matthew-Wood syndrome MedGen: C1832661 OMIM: 601186 GeneReviews: Microphthalmia/Anophthalmia/Coloboma Spectrum	Compare labs

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

NoName (e-PCR)
- UniSTS:9484

G30105 (e-PCR)
- UniSTS:36644

D8S2279 (e-PCR)
- UniSTS:473907

RH45099 (e-PCR)
- UniSTS:36697

D11S3114 (e-PCR)
- UniSTS:152207

Homology

Homologs of the STRA6 gene: The STRA6 gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, zebrafish, and frog.
Orthologs from Annotation Pipeline: 350 organisms have orthologs with human gene STRA6
Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
retinal binding	IEA Inferred from Electronic Annotation more info
retinol binding	IEA Inferred from Electronic Annotation more info
retinol transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed
signaling receptor activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
adrenal gland development	IMP Inferred from Mutant Phenotype more info	PubMed
alveolar primary septum development	IMP Inferred from Mutant Phenotype more info	PubMed
artery morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
blood vessel development	IMP Inferred from Mutant Phenotype more info	PubMed
camera-type eye development	IMP Inferred from Mutant Phenotype more info	PubMed
cognition	IMP Inferred from Mutant Phenotype more info	PubMed
developmental growth	IMP Inferred from Mutant Phenotype more info	PubMed
diaphragm development	IMP Inferred from Mutant Phenotype more info	PubMed
digestive tract morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
ductus arteriosus closure	IMP Inferred from Mutant Phenotype more info	PubMed
ear development	IMP Inferred from Mutant Phenotype more info	PubMed
embryonic camera-type eye formation	IMP Inferred from Mutant Phenotype more info	PubMed
embryonic digestive tract development	IMP Inferred from Mutant Phenotype more info	PubMed
eyelid development in camera-type eye	IMP Inferred from Mutant Phenotype more info	PubMed
face morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
feeding behavior	IMP Inferred from Mutant Phenotype more info	PubMed
female genitalia development	IMP Inferred from Mutant Phenotype more info	PubMed
head development	IMP Inferred from Mutant Phenotype more info	PubMed
head morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
heart development	IMP Inferred from Mutant Phenotype more info	PubMed
kidney development	IMP Inferred from Mutant Phenotype more info	PubMed
learning	IMP Inferred from Mutant Phenotype more info	PubMed
lung alveolus development	IMP Inferred from Mutant Phenotype more info	PubMed
lung development	IMP Inferred from Mutant Phenotype more info	PubMed
lung vasculature development	IMP Inferred from Mutant Phenotype more info	PubMed
neuromuscular process	IMP Inferred from Mutant Phenotype more info	PubMed
nose morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
paramesonephric duct development	IMP Inferred from Mutant Phenotype more info	PubMed
positive regulation of behavior	IMP Inferred from Mutant Phenotype more info	PubMed
pulmonary artery morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
pulmonary valve morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
retinoid metabolic process	TAS Traceable Author Statement more info
retinol transport	IDA Inferred from Direct Assay more info	PubMed
smooth muscle tissue development	IMP Inferred from Mutant Phenotype more info	PubMed
uterus morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
ventricular septum development	IMP Inferred from Mutant Phenotype more info	PubMed
vitamin A import	IBA Inferred from Biological aspect of Ancestor more info	PubMed
vocal learning	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
integral component of plasma membrane	IDA Inferred from Direct Assay more info	PubMed
plasma membrane	IBA Inferred from Biological aspect of Ancestor more info	PubMed
plasma membrane	TAS Traceable Author Statement more info
protein-containing complex	IDA Inferred from Direct Assay more info

General protein information

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Preferred Names: receptor for retinol uptake STRA6

Names: RBP receptor; retinol binding protein 4 receptor; retinol-binding protein receptor STRA6; stimulated by retinoic acid 6 homolog; stimulated by retinoic acid gene 6 homolog; stimulated by retinoic acid gene 6 protein homolog

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_009207.1 RefSeqGene

Range

5042..34565

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001142617.2 → NP_001136089.1 receptor for retinol uptake STRA6 isoform a

See identical proteins and their annotated locations for NP_001136089.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) differs in the 5' UTR and coding sequence compared to variant 8. The resulting isoform (a) is shorter at the N-terminus compared to isoform f. Variants 1, 2, and 3 all encode the same isoform (a).

Source sequence(s)

AF352729, AK056125

Consensus CDS

CCDS10261.1

UniProtKB/Swiss-Prot

Q9BX79

UniProtKB/TrEMBL

B3KPB8

Related

ENSP00000326085.5, ENST00000323940.9

Conserved Domains (1) summary

pfam14752
Location:41 → 657

RBP_receptor; Retinol binding protein receptor
NM_001142618.2 → NP_001136090.1 receptor for retinol uptake STRA6 isoform a

See identical proteins and their annotated locations for NP_001136090.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) differs in the 5' UTR and coding sequence compared to variant 8. The resulting isoform (a) is shorter at the N-terminus compared to isoform f. Variants 1, 2, and 3 all encode the same isoform (a).

Source sequence(s)

AF352729, AK056125, AK291966

Consensus CDS

CCDS10261.1

UniProtKB/Swiss-Prot

Q9BX79

UniProtKB/TrEMBL

B3KPB8

Related

ENSP00000479112.1, ENST00000616000.4

Conserved Domains (1) summary

pfam14752
Location:41 → 657

RBP_receptor; Retinol binding protein receptor
NM_001142619.2 → NP_001136091.1 receptor for retinol uptake STRA6 isoform b

See identical proteins and their annotated locations for NP_001136091.1

Status: REVIEWED

Description

Transcript Variant: This variant (4) differs in the 5' UTR and coding sequence and uses an alternate splice junction at the 5' end of an exon compared to variant 8. The resulting isoform (b) is shorter at the N-terminus and lacks an internal segment compared to isoform f.

Source sequence(s)

AF352729, AK056125, DA746408

Consensus CDS

CCDS45301.1

UniProtKB/Swiss-Prot

Q9BX79

UniProtKB/TrEMBL

B3KPB8

Related

ENSP00000413012.2, ENST00000423167.6

Conserved Domains (1) summary

pfam14752
Location:41 → 648

RBP_receptor; Retinol binding protein receptor
NM_001142620.2 → NP_001136092.1 receptor for retinol uptake STRA6 isoform c

See identical proteins and their annotated locations for NP_001136092.1

Status: REVIEWED

Description

Transcript Variant: This variant (5) differs in the 3' UTR and coding sequence compared to variant 8. The resulting isoform (c) has a shorter and distinct C-terminus compared to isoform f.

Source sequence(s)

BC015881, DA746408

Consensus CDS

CCDS45302.1

UniProtKB/Swiss-Prot

Q9BX79

Related

ENSP00000407176.2, ENST00000432245.6

Conserved Domains (1) summary

pfam14752
Location:41 → 134

RBP_receptor; Retinol binding protein receptor
NM_001199040.2 → NP_001185969.1 receptor for retinol uptake STRA6 isoform d

Status: REVIEWED

Description

Transcript Variant: This variant (6) differs in the 5' UTR and coding sequence compared to variant 8. The resulting isoform (d) has a shorter and distinct N-terminus compared to isoform f.

Source sequence(s)

AC023545, AF352728, AF352729, AK299191

Consensus CDS

CCDS55974.1

UniProtKB/Swiss-Prot

Q9BX79

Related

ENSP00000440238.1, ENST00000535552.5

Conserved Domains (1) summary

pfam14752
Location:78 → 694

RBP_receptor; Retinol binding protein receptor
NM_001199041.2 → NP_001185970.1 receptor for retinol uptake STRA6 isoform e

Status: REVIEWED

Description

Transcript Variant: This variant (7) differs in the 5' UTR and coding sequence compared to variant 8. The resulting isoform (e) has a shorter and distinct N-terminus compared to isoform f.

Source sequence(s)

AC023545, AF352728, AF352729, AK302932

Consensus CDS

CCDS58387.1

UniProtKB/Swiss-Prot

Q9BX79

Related

ENSP00000458827.1, ENST00000574278.5

Conserved Domains (1) summary

pfam14752
Location:56 → 672

RBP_receptor; Retinol binding protein receptor
NM_001199042.2 → NP_001185971.1 receptor for retinol uptake STRA6 isoform f

Status: REVIEWED

Description

Transcript Variant: This variant (8) represents the longest transcript and encodes the longest isoform (f).

Source sequence(s)

AC023545, AF352728, AF352729, AK309676

Consensus CDS

CCDS55973.1

UniProtKB/Swiss-Prot

Q9BX79

Related

ENSP00000456609.1, ENST00000563965.5

Conserved Domains (1) summary

pfam14752
Location:80 → 696

RBP_receptor; Retinol binding protein receptor
NM_022369.4 → NP_071764.3 receptor for retinol uptake STRA6 isoform a

See identical proteins and their annotated locations for NP_071764.3

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence compared to variant 8. The resulting isoform (a) is shorter at the N-terminus compared to isoform f. Variants 1, 2, and 3 all encode the same isoform (a).

Source sequence(s)

AF352729, AK056125, BC025256

Consensus CDS

CCDS10261.1

UniProtKB/Swiss-Prot

Q9BX79

UniProtKB/TrEMBL

B3KPB8

Related

ENSP00000378537.4, ENST00000395105.9

Conserved Domains (1) summary

pfam14752
Location:41 → 657

RBP_receptor; Retinol binding protein receptor

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210226

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

NC_000015.10 Reference GRCh38.p13 Primary Assembly

Range

74179466..74212267 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017022479.1 → XP_016877968.1 receptor for retinol uptake STRA6 isoform X2

UniProtKB/Swiss-Prot

Q9BX79

Conserved Domains (1) summary

pfam14752
Location:41 → 657

RBP_receptor; Retinol binding protein receptor
XM_011521883.1 → XP_011520185.1 receptor for retinol uptake STRA6 isoform X2

See identical proteins and their annotated locations for XP_011520185.1

UniProtKB/Swiss-Prot

Q9BX79

Related

ENSP00000410221.2, ENST00000449139.6

Conserved Domains (1) summary

pfam14752
Location:41 → 657

RBP_receptor; Retinol binding protein receptor
XM_017022480.1 → XP_016877969.1 receptor for retinol uptake STRA6 isoform X3

Conserved Domains (1) summary

pfam14752
Location:26 → 594

RBP_receptor; Retinol binding protein receptor
XM_011521884.1 → XP_011520186.1 receptor for retinol uptake STRA6 isoform X3

Conserved Domains (1) summary

pfam14752
Location:26 → 594

RBP_receptor; Retinol binding protein receptor
XM_017022478.1 → XP_016877967.1 receptor for retinol uptake STRA6 isoform X1
XM_011521885.2 → XP_011520187.1 receptor for retinol uptake STRA6 isoform X4

Conserved Domains (1) summary

pfam14752
Location:80 → 403

RBP_receptor; Retinol binding protein receptor