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

Gene ID: 64220, updated on 1-Aug-2020

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

Genomic context

See STRA6 in Genome Data Viewer
Location:
15q24.1
Exon count:
26
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 15 NC_000015.10 (74179466..74212267, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (74471802..74502046, complement)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene immunoglobulin superfamily containing leucine rich repeat 2 Neighboring gene uncharacterized LOC283731 Neighboring gene immunoglobulin superfamily containing leucine rich repeat Neighboring gene uncharacterized LOC105370893 Neighboring gene coiled-coil domain containing 33 Neighboring gene cytochrome P450 family 11 subfamily A member 1 Neighboring gene peptidylprolyl isomerase A pseudogene 46

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ12541

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

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)

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_009207.1 RefSeqGene

    Range
    5042..34565
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001142617.2NP_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:41657
    RBP_receptor; Retinol binding protein receptor
  2. NM_001142618.1NP_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, CB131492
    Consensus CDS
    CCDS10261.1
    UniProtKB/Swiss-Prot
    Q9BX79
    UniProtKB/TrEMBL
    B3KPB8
    Related
    ENSP00000479112.1, ENST00000616000.4
    Conserved Domains (1) summary
    pfam14752
    Location:41657
    RBP_receptor; Retinol binding protein receptor
  3. NM_001142619.2NP_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:41648
    RBP_receptor; Retinol binding protein receptor
  4. NM_001142620.1NP_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:41134
    RBP_receptor; Retinol binding protein receptor
  5. NM_001199040.1NP_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:78694
    RBP_receptor; Retinol binding protein receptor
  6. NM_001199041.1NP_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:56672
    RBP_receptor; Retinol binding protein receptor
  7. NM_001199042.2NP_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:80696
    RBP_receptor; Retinol binding protein receptor
  8. NM_022369.4NP_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:41657
    RBP_receptor; Retinol binding protein receptor

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20200522

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p13 Primary Assembly

    Range
    74179466..74212267 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    UniProtKB/Swiss-Prot
    Q9BX79
    Conserved Domains (1) summary
    pfam14752
    Location:41657
    RBP_receptor; Retinol binding protein receptor
  2. XM_011521883.1XP_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:41657
    RBP_receptor; Retinol binding protein receptor
  3. XM_017022480.1XP_016877969.1  receptor for retinol uptake STRA6 isoform X3

    Conserved Domains (1) summary
    pfam14752
    Location:26594
    RBP_receptor; Retinol binding protein receptor
  4. XM_011521884.1XP_011520186.1  receptor for retinol uptake STRA6 isoform X3

    Conserved Domains (1) summary
    pfam14752
    Location:26594
    RBP_receptor; Retinol binding protein receptor
  5. XM_017022478.1XP_016877967.1  receptor for retinol uptake STRA6 isoform X1

  6. XM_011521885.2XP_011520187.1  receptor for retinol uptake STRA6 isoform X4

    Conserved Domains (1) summary
    pfam14752
    Location:80403
    RBP_receptor; Retinol binding protein receptor

RNA

  1. XR_931877.2 RNA Sequence

Reference GRCh38.p13 PATCHES

Genomic

  1. NW_021160016.1 Reference GRCh38.p13 PATCHES

    Range
    6891..37130 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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