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STRA6 stimulated by retinoic acid 6 [ Homo sapiens (human) ]

Gene ID: 64220, updated on 26-May-2016
Official Symbol
STRA6provided by HGNC
Official Full Name
stimulated by retinoic acid 6provided by HGNC
Primary source
HGNC:HGNC:30650
See related
Ensembl:ENSG00000137868 HPRD:18122; MIM:610745; Vega:OTTHUMG00000138998
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]
Orthologs
Location:
15q24.1
Exon count:
26
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 15 NC_000015.10 (74179466..74212259, 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 uncharacterized LOC283731 Neighboring gene immunoglobulin superfamily containing leucine-rich repeat 2 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 (cyclophilin A) pseudogene

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

  • Disease, organism-specific biosystem (from REACTOME)
    Disease, organism-specific biosystemBiological processes are captured in Reactome by identifying the molecules (DNA, RNA, protein, small molecules) involved in them and describing the details of their interactions. From this molecular ...
  • Diseases associated with visual transduction, organism-specific biosystem (from REACTOME)
    Diseases associated with visual transduction, organism-specific biosystemThe process of vision involves two stages; the retinoid cycle which supplies and regenerates the visual chromophore required for vision and phototransduction which propagates the light signal. Defect...
  • Diseases of signal transduction, organism-specific biosystem (from REACTOME)
    Diseases of signal transduction, organism-specific biosystemSignaling processes are central to human physiology (e.g., Pires-da Silva & Sommer 2003), and their disruption by either germ-line and somatic mutation can lead to serious disease. Here, the molecula...
  • Retinoid cycle disease events, organism-specific biosystem (from REACTOME)
    Retinoid cycle disease events, organism-specific biosystemThe gene defects which cause diseases related to the retinoid cycle are described here (Travis et al. 2007, Palczewski 2010, Fletcher et al. 2011, den Hollander et al. 2008).
  • Signal Transduction, organism-specific biosystem (from REACTOME)
    Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
  • The canonical retinoid cycle in rods (twilight vision), organism-specific biosystem (from REACTOME)
    The canonical retinoid cycle in rods (twilight vision), organism-specific biosystemThe retinoid cycle (also referred to as the visual cycle) is the process by which the visual chromophore 11-cis-retinal (11cRAL) is released from light-activated opsins in the form all-trans-retinal ...
  • Visual phototransduction, organism-specific biosystem (from REACTOME)
    Visual phototransduction, organism-specific biosystemVisual phototransduction is the process by which photon absorption by visual pigment molecules in photoreceptor cells is converted to an electrical cellular response. The events in this process are p...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • FLJ12541

Gene Ontology Provided by GOA

Function Evidence Code Pubs
receptor activity IEA
Inferred from Electronic Annotation
more info
 
vitamin transporter 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 
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
 
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 transport IEA
Inferred from Electronic Annotation
more info
 
vocal learning IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 
protein complex IDA
Inferred from Direct Assay
more info
 
Preferred Names
stimulated by retinoic acid gene 6 protein homolog
Names
retinol binding protein 4 receptor
stimulated by retinoic acid 6 homolog
stimulated by retinoic acid gene 6 homolog

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
    5001..34565
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001142617.1NP_001136089.1  stimulated by retinoic acid gene 6 protein homolog 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, DA746408
    Consensus CDS
    CCDS10261.1
    UniProtKB/Swiss-Prot
    Q9BX79
    UniProtKB/TrEMBL
    B3KPB8
    Related
    ENSP00000326085, OTTHUMP00000176859, ENST00000323940, OTTHUMT00000272891
    Conserved Domains (1) summary
    pfam14752
    Location:40658
    RBP_receptor; Retinol binding protein receptor
  2. NM_001142618.1NP_001136090.1  stimulated by retinoic acid gene 6 protein homolog 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, ENST00000616000
    Conserved Domains (1) summary
    pfam14752
    Location:40658
    RBP_receptor; Retinol binding protein receptor
  3. NM_001142619.1NP_001136091.1  stimulated by retinoic acid gene 6 protein homolog 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, OTTHUMP00000258005, ENST00000423167, OTTHUMT00000439620
    Conserved Domains (1) summary
    pfam14752
    Location:40649
    RBP_receptor; Retinol binding protein receptor
  4. NM_001142620.1NP_001136092.1  stimulated by retinoic acid gene 6 protein homolog 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, OTTHUMP00000256077, ENST00000432245, OTTHUMT00000435764
    Conserved Domains (1) summary
    pfam14752
    Location:40144
    RBP_receptor; Retinol binding protein receptor
  5. NM_001199040.1NP_001185969.1  stimulated by retinoic acid gene 6 protein homolog 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, OTTHUMP00000258008, ENST00000535552, OTTHUMT00000439624
    Conserved Domains (1) summary
    pfam14752
    Location:77695
    RBP_receptor; Retinol binding protein receptor
  6. NM_001199041.1NP_001185970.1  stimulated by retinoic acid gene 6 protein homolog 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, OTTHUMP00000258009, ENST00000574278, OTTHUMT00000439625
    Conserved Domains (1) summary
    pfam14752
    Location:55673
    RBP_receptor; Retinol binding protein receptor
  7. NM_001199042.1NP_001185971.1  stimulated by retinoic acid gene 6 protein homolog 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, OTTHUMP00000256076, ENST00000563965, OTTHUMT00000435762
    Conserved Domains (1) summary
    pfam14752
    Location:79697
    RBP_receptor; Retinol binding protein receptor
  8. NM_022369.3NP_071764.3  stimulated by retinoic acid gene 6 protein homolog 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, DA700543
    Consensus CDS
    CCDS10261.1
    UniProtKB/Swiss-Prot
    Q9BX79
    UniProtKB/TrEMBL
    B3KPB8
    Related
    ENSP00000378537, OTTHUMP00000176858, ENST00000395105, OTTHUMT00000272890
    Conserved Domains (1) summary
    pfam14752
    Location:40658
    RBP_receptor; Retinol binding protein receptor

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p2 Primary Assembly

    Range
    74179466..74212259 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011521883.1XP_011520185.1  

    See identical proteins and their annotated locations for XP_011520185.1

    UniProtKB/Swiss-Prot
    Q9BX79
    Related
    ENSP00000410221, OTTHUMP00000258006, ENST00000449139, OTTHUMT00000439621
    Conserved Domains (1) summary
    pfam14752
    Location:40658
    RBP_receptor; Retinol binding protein receptor
  2. XM_011521884.1XP_011520186.1  

    Conserved Domains (1) summary
    pfam14752
    Location:26595
    RBP_receptor; Retinol binding protein receptor
  3. XM_011521885.1XP_011520187.1  

    Conserved Domains (1) summary
    pfam14752
    Location:79403
    RBP_receptor; Retinol binding protein receptor

RNA

  1. XR_931877.1 RNA Sequence

Alternate CHM1_1.1

Genomic

  1. NC_018926.2 Alternate CHM1_1.1

    Range
    74590002..74620238 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)