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

    Gene ID: 64220, updated on 9-Dec-2024

    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; AllianceGenome:HGNC:30650
    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See STRA6 in Genome Data Viewer
    Location:
    15q24.1
    Exon count:
    25
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (74179466..74212259, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (72045386..72078184, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (74471807..74502046, complement)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124903523 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9744 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:74464796-74465784 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:74465785-74466772 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:74466773-74467761 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:74468869-74469385 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_40888 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:74473477-74474013 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr15:74476518-74477717 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:74485815-74486316 Neighboring gene immunoglobulin superfamily containing leucine rich repeat Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_40898 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:74492227-74492862 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:74492863-74493496 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:74495400-74496033 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:74497519-74498180 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:74498181-74498842 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:74500829-74501490 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:74504651-74505191 Neighboring gene coiled-coil domain containing 33 Neighboring gene ReSE screen-validated silencer GRCh37_chr15:74510918-74511127 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:74515727-74516464 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:74516465-74517202 Neighboring gene uncharacterized LOC105370893 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr15:74524367-74525566 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:74526358-74526954 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:74531317-74531912 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:74531913-74532508 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:74536295-74536796 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:74537297-74538296 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:74555642-74556474 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:74556475-74557305 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:74569034-74569758 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:74569759-74570483 Neighboring gene VISTA enhancer hs2614 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:74593043-74593864 Neighboring gene uncharacterized LOC124903525 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9747 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:74611467-74612377

    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

    Clone Names

    • FLJ12541

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables retinal binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables retinol binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables retinol transmembrane transporter activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables signaling receptor activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in adrenal gland development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in alveolar primary septum development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in artery morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in blood vessel development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in camera-type eye development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cognition IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in developmental growth IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in diaphragm development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in digestive tract morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in ductus arteriosus closure IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in ear development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in embryonic camera-type eye formation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in embryonic digestive tract development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in eyelid development in camera-type eye IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in face morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in feeding behavior IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in female genitalia development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in head development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in head morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in heart development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in kidney development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in learning IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in lung alveolus development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in lung development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in lung vasculature development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in neuromuscular process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in nose morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in paramesonephric duct development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of behavior IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in pulmonary artery morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in pulmonary valve morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in retinol transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in smooth muscle tissue development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in uterus morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in ventricular septum development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in vitamin A import into cell IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in vocal learning IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     
    part_of 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)

    NEW Try the new Transcript table

    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
      11244..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
      A8K7F1, B7Z5M9, B7Z862, D3DW54, F5GYI8, I3L1G8, Q6PJF8, Q71RB9, Q7L9G1, Q7Z3U9, Q8TB21, Q9BX78, Q9BX79, Q9H9U8
      UniProtKB/TrEMBL
      B3KPB8
      Related
      ENSP00000326085.5, ENST00000323940.9
      Conserved Domains (1) summary
      pfam14752
      Location:41657
      RBP_receptor; Retinol binding protein receptor
    2. NM_001142618.2NP_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
      A8K7F1, B7Z5M9, B7Z862, D3DW54, F5GYI8, I3L1G8, Q6PJF8, Q71RB9, Q7L9G1, Q7Z3U9, Q8TB21, Q9BX78, Q9BX79, Q9H9U8
      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/TrEMBL
      B3KPB8
      Related
      ENSP00000413012.2, ENST00000423167.6
      Conserved Domains (1) summary
      pfam14752
      Location:41648
      RBP_receptor; Retinol binding protein receptor
    4. NM_001142620.2NP_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_001199040.2NP_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/TrEMBL
      B3KPB8
      Related
      ENSP00000440238.1, ENST00000535552.5
      Conserved Domains (1) summary
      pfam14752
      Location:78694
      RBP_receptor; Retinol binding protein receptor
    6. NM_001199041.2NP_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/TrEMBL
      B3KPB8
      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/TrEMBL
      B7Z5G7
      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
      A8K7F1, B7Z5M9, B7Z862, D3DW54, F5GYI8, I3L1G8, Q6PJF8, Q71RB9, Q7L9G1, Q7Z3U9, Q8TB21, Q9BX78, Q9BX79, Q9H9U8
      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: 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_000015.10 Reference GRCh38.p14 Primary Assembly

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

    mRNA and Protein(s)

    1. 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
      A8K7F1, B7Z5M9, B7Z862, D3DW54, F5GYI8, I3L1G8, Q6PJF8, Q71RB9, Q7L9G1, Q7Z3U9, Q8TB21, Q9BX78, Q9BX79, Q9H9U8
      UniProtKB/TrEMBL
      B3KPB8
      Related
      ENSP00000410221.2, ENST00000449139.6
      Conserved Domains (1) summary
      pfam14752
      Location:41657
      RBP_receptor; Retinol binding protein receptor
    2. XM_017022479.2XP_016877968.1  receptor for retinol uptake STRA6 isoform X2

      UniProtKB/Swiss-Prot
      A8K7F1, B7Z5M9, B7Z862, D3DW54, F5GYI8, I3L1G8, Q6PJF8, Q71RB9, Q7L9G1, Q7Z3U9, Q8TB21, Q9BX78, Q9BX79, Q9H9U8
      UniProtKB/TrEMBL
      B3KPB8
      Conserved Domains (1) summary
      pfam14752
      Location:41657
      RBP_receptor; Retinol binding protein receptor
    3. XM_017022478.2XP_016877967.1  receptor for retinol uptake STRA6 isoform X1

      UniProtKB/TrEMBL
      B3KPB8
    4. XM_011521885.3XP_011520187.1  receptor for retinol uptake STRA6 isoform X3

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

    RNA

    1. XR_931877.3 RNA Sequence

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_021160016.1 Reference GRCh38.p14 PATCHES

      Range
      6891..39692 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054332549.1XP_054188524.1  receptor for retinol uptake STRA6 isoform X2

      UniProtKB/Swiss-Prot
      A8K7F1, B7Z5M9, B7Z862, D3DW54, F5GYI8, I3L1G8, Q6PJF8, Q71RB9, Q7L9G1, Q7Z3U9, Q8TB21, Q9BX78, Q9BX79, Q9H9U8
      UniProtKB/TrEMBL
      B3KPB8
    2. XM_054332550.1XP_054188525.1  receptor for retinol uptake STRA6 isoform X2

      UniProtKB/Swiss-Prot
      A8K7F1, B7Z5M9, B7Z862, D3DW54, F5GYI8, I3L1G8, Q6PJF8, Q71RB9, Q7L9G1, Q7Z3U9, Q8TB21, Q9BX78, Q9BX79, Q9H9U8
      UniProtKB/TrEMBL
      B3KPB8
    3. XM_054332548.1XP_054188523.1  receptor for retinol uptake STRA6 isoform X1

      UniProtKB/TrEMBL
      B3KPB8
    4. XM_054332551.1XP_054188526.1  receptor for retinol uptake STRA6 isoform X3

    RNA

    1. XR_008485781.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060939.1 Alternate T2T-CHM13v2.0

      Range
      72045386..72078184 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054378605.1XP_054234580.1  receptor for retinol uptake STRA6 isoform X2

      UniProtKB/Swiss-Prot
      A8K7F1, B7Z5M9, B7Z862, D3DW54, F5GYI8, I3L1G8, Q6PJF8, Q71RB9, Q7L9G1, Q7Z3U9, Q8TB21, Q9BX78, Q9BX79, Q9H9U8
      UniProtKB/TrEMBL
      B3KPB8
    2. XM_054378606.1XP_054234581.1  receptor for retinol uptake STRA6 isoform X2

      UniProtKB/Swiss-Prot
      A8K7F1, B7Z5M9, B7Z862, D3DW54, F5GYI8, I3L1G8, Q6PJF8, Q71RB9, Q7L9G1, Q7Z3U9, Q8TB21, Q9BX78, Q9BX79, Q9H9U8
      UniProtKB/TrEMBL
      B3KPB8
    3. XM_054378604.1XP_054234579.1  receptor for retinol uptake STRA6 isoform X1

      UniProtKB/TrEMBL
      B3KPB8
    4. XM_054378607.1XP_054234582.1  receptor for retinol uptake STRA6 isoform X3

    RNA

    1. XR_008489003.1 RNA Sequence