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    SLC49A3 solute carrier family 49 member 3 [ Homo sapiens (human) ]

    Gene ID: 84179, updated on 28-Oct-2024

    Summary

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    Official Symbol
    SLC49A3provided by HGNC
    Official Full Name
    solute carrier family 49 member 3provided by HGNC
    Primary source
    HGNC:HGNC:26177
    See related
    Ensembl:ENSG00000169026 MIM:620318; AllianceGenome:HGNC:26177
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    MFSD7; LP2561
    Summary
    Predicted to enable transmembrane transporter activity. Predicted to be involved in transmembrane transport. Predicted to be active in membrane. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Ubiquitous expression in testis (RPKM 3.9), lung (RPKM 2.5) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See SLC49A3 in Genome Data Viewer
    Location:
    4p16.3
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (676826..691624, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (676500..691967, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (675618..682940, complement)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene phosphodiesterase 6B Neighboring gene PDE6B antisense RNA 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:657162-657754 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:668197-668954 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:674515-675154 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15102 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15103 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21131 Neighboring gene ATP synthase membrane subunit e Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21132 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:680358-681306 Neighboring gene uncharacterized LOC124900643 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:682255-683203 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:683204-684151 Neighboring gene myosin light chain 5 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:686336-686923 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:686924-687510 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:688618-689118 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:694583-695083 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:697641-698368 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:699409-700394 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:700395-701379 Neighboring gene uncharacterized LOC124900172 Neighboring gene polycomb group ring finger 3 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:720375-720890 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:720891-721405 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:725234-725734 Neighboring gene uncharacterized LOC107986246

    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. Heme and FLVCR-related transporter families SLC48 and SLC49. Khan AA, et al. Mol Aspects Med, 2013 Apr-Jun. PMID 23506900, Free PMC Article
    2. Large-scale cDNA transfection screening for genes related to cancer development and progression. Wan D, et al. Proc Natl Acad Sci U S A, 2004 Nov 2. PMID 15498874, Free PMC Article
    3. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. Clark HF, et al. Genome Res, 2003 Oct. PMID 12975309, Free PMC Article
    4. Next-generation sequencing to generate interactome datasets. Yu H, et al. Nat Methods, 2011 Jun. PMID 21516116, Free PMC Article
    5. RIG-I regulates myeloid differentiation by promoting TRIM25-mediated ISGylation. Wu SF, et al. Proc Natl Acad Sci U S A, 2020 Jun 23. PMID 32513696, Free PMC Article

    See all (10) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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

    • FLJ22269

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables transmembrane transporter activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    solute carrier family 49 member A3
    Names
    MYL5
    major facilitator superfamily domain containing 7
    major facilitator superfamily domain-containing protein 7
    myosin light polypeptide 5 regulatory 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.

    mRNA and Protein(s)

    1. NM_001294341.2 → NP_001281270.1  solute carrier family 49 member A3 isoform 1

      See identical proteins and their annotated locations for NP_001281270.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AC107464, AY358401, CK725033
      Consensus CDS
      CCDS75086.1
      UniProtKB/Swiss-Prot
      A8K7J5, Q6UXD7, Q6XYD4, Q8N6H1, Q9H6H6
      Related
      ENSP00000384616.2, ENST00000404286.6
      Conserved Domains (3) summary
      cd06174
      Location:33 → 442
      MFS; The Major Facilitator Superfamily (MFS) is a large and diverse group of secondary transporters that includes uniporters, symporters, and antiporters. MFS proteins facilitate the transport across cytoplasmic or internal membranes of a variety of ...
      pfam04520
      Location:497 → 541
      Senescence_reg; Senescence regulator
      pfam07690
      Location:41 → 391
      MFS_1; Major Facilitator Superfamily

    2. NM_001294342.2 → NP_001281271.1  solute carrier family 49 member A3 isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) uses an alternate splice site and lacks two consecutive exons in the central coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (3) is shorter, compared to isoform 1.
      Source sequence(s)
      AK025922, AY358401, CK725033
      Consensus CDS
      CCDS77883.1
      UniProtKB/Swiss-Prot
      Q6UXD7
      Related
      ENSP00000307545.5, ENST00000347950.9
      Conserved Domains (3) summary
      cd06174
      Location:46 → 323
      MFS; The Major Facilitator Superfamily (MFS) is a large and diverse group of secondary transporters that includes uniporters, symporters, and antiporters. MFS proteins facilitate the transport across cytoplasmic or internal membranes of a variety of ...
      pfam04520
      Location:378 → 422
      Senescence_reg; Senescence regulator
      pfam07690
      Location:62 → 272
      MFS_1; Major Facilitator Superfamily

    3. NM_001378059.1 → NP_001364988.1  solute carrier family 49 member A3 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC107464
      Consensus CDS
      CCDS93459.1
      UniProtKB/TrEMBL
      D6R9R0
      Related
      ENSP00000423204.1, ENST00000515118.5
      Conserved Domains (2) summary
      PHA03381
      Location:355 → 460
      PHA03381; tegument protein VP22; Provisional
      cl28910
      Location:28 → 345
      MFS; Major Facilitator Superfamily

    4. NM_001378060.1 → NP_001364989.1  solute carrier family 49 member A3 isoform 5

      Status: VALIDATED

      Source sequence(s)
      AC107464
      Conserved Domains (2) summary
      PHA03381
      Location:354 → 459
      PHA03381; tegument protein VP22; Provisional
      cl28910
      Location:28 → 344
      MFS; Major Facilitator Superfamily

    5. NM_001378061.1 → NP_001364990.1  solute carrier family 49 member A3 isoform 6

      Status: VALIDATED

      Source sequence(s)
      AC107464
      Conserved Domains (2) summary
      PHA03381
      Location:373 → 478
      PHA03381; tegument protein VP22; Provisional
      cl28910
      Location:28 → 363
      MFS; Major Facilitator Superfamily

    6. NM_001378062.1 → NP_001364991.1  solute carrier family 49 member A3 isoform 7

      Status: VALIDATED

      Source sequence(s)
      AC107464
      Conserved Domains (2) summary
      PHA03381
      Location:332 → 437
      PHA03381; tegument protein VP22; Provisional
      cl28910
      Location:28 → 322
      MFS; Major Facilitator Superfamily

    7. NM_032219.4 → NP_115595.2  solute carrier family 49 member A3 isoform 2

      See identical proteins and their annotated locations for NP_115595.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the central coding region, compared to variant 1. The encoded isoform (2) is shorter, compared to isoform 2.
      Source sequence(s)
      BC030246
      Consensus CDS
      CCDS3338.1
      UniProtKB/Swiss-Prot
      Q6UXD7
      Related
      ENSP00000320234.4, ENST00000322224.9
      Conserved Domains (3) summary
      cd06174
      Location:33 → 441
      MFS; The Major Facilitator Superfamily (MFS) is a large and diverse group of secondary transporters that includes uniporters, symporters, and antiporters. MFS proteins facilitate the transport across cytoplasmic or internal membranes of a variety of ...
      pfam04520
      Location:474 → 540
      Senescence_reg; Senescence regulator
      pfam07690
      Location:41 → 390
      MFS_1; Major Facilitator Superfamily

    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_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      676826..691624 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047416290.1 → XP_047272246.1  solute carrier family 49 member A3 isoform X11

    2. XM_047416279.1 → XP_047272235.1  solute carrier family 49 member A3 isoform X1

    3. XM_047416289.1 → XP_047272245.1  solute carrier family 49 member A3 isoform X10

    4. XM_047416283.1 → XP_047272239.1  solute carrier family 49 member A3 isoform X5

    5. XM_047416282.1 → XP_047272238.1  solute carrier family 49 member A3 isoform X4

    6. XM_047416288.1 → XP_047272244.1  solute carrier family 49 member A3 isoform X9

    7. XM_047416291.1 → XP_047272247.1  solute carrier family 49 member A3 isoform X12

    8. XM_011513572.3 → XP_011511874.1  solute carrier family 49 member A3 isoform X8

      Conserved Domains (2) summary
      cd06174
      Location:79 → 373
      MFS; The Major Facilitator Superfamily (MFS) is a large and diverse group of secondary transporters that includes uniporters, symporters, and antiporters. MFS proteins facilitate the transport across cytoplasmic or internal membranes of a variety of ...
      pfam07690
      Location:78 → 322
      MFS_1; Major Facilitator Superfamily

    9. XM_047416284.1 → XP_047272240.1  solute carrier family 49 member A3 isoform X7

    10. XM_006713918.2 → XP_006713981.1  solute carrier family 49 member A3 isoform X6

      See identical proteins and their annotated locations for XP_006713981.1

      Conserved Domains (3) summary
      cd06174
      Location:3 → 378
      MFS; The Major Facilitator Superfamily (MFS) is a large and diverse group of secondary transporters that includes uniporters, symporters, and antiporters. MFS proteins facilitate the transport across cytoplasmic or internal membranes of a variety of ...
      pfam04520
      Location:411 → 477
      Senescence_reg; Senescence regulator
      pfam07690
      Location:3 → 327
      MFS_1; Major Facilitator Superfamily

    11. XM_047416280.1 → XP_047272236.1  solute carrier family 49 member A3 isoform X2

    12. XM_047416281.1 → XP_047272237.1  solute carrier family 49 member A3 isoform X3

    13. XM_047416286.1 → XP_047272242.1  solute carrier family 49 member A3 isoform X6

    14. XM_047416287.1 → XP_047272243.1  solute carrier family 49 member A3 isoform X6

      Related
      ENSP00000425753.1, ENST00000503156.5

    RNA

    1. XR_007057974.1 RNA Sequence

    2. XR_007057976.1 RNA Sequence

    3. XR_007057975.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      676500..691967 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054351038.1 → XP_054207013.1  solute carrier family 49 member A3 isoform X11

    2. XM_054351030.1 → XP_054207005.1  solute carrier family 49 member A3 isoform X5

    3. XM_054351029.1 → XP_054207004.1  solute carrier family 49 member A3 isoform X4

    4. XM_054351027.1 → XP_054207002.1  solute carrier family 49 member A3 isoform X1

    5. XM_054351025.1 → XP_054207000.1  solute carrier family 49 member A3 isoform X13

      UniProtKB/Swiss-Prot
      A8K7J5, Q6UXD7, Q6XYD4, Q8N6H1, Q9H6H6

    6. XM_054351037.1 → XP_054207012.1  solute carrier family 49 member A3 isoform X17

    7. XM_054351036.1 → XP_054207011.1  solute carrier family 49 member A3 isoform X16

      UniProtKB/TrEMBL
      D6R9R0

    8. XM_054351035.1 → XP_054207010.1  solute carrier family 49 member A3 isoform X15

    9. XM_054351034.1 → XP_054207009.1  solute carrier family 49 member A3 isoform X10

    10. XM_054351026.1 → XP_054207001.1  solute carrier family 49 member A3 isoform X14

    11. XM_054351033.1 → XP_054207008.1  solute carrier family 49 member A3 isoform X9

    12. XM_054351039.1 → XP_054207014.1  solute carrier family 49 member A3 isoform X12

    13. XM_054351032.1 → XP_054207007.1  solute carrier family 49 member A3 isoform X8

    14. XM_054351028.1 → XP_054207003.1  solute carrier family 49 member A3 isoform X3

    15. XM_054351031.1 → XP_054207006.1  solute carrier family 49 member A3 isoform X6

    16. XM_054351040.1 → XP_054207015.1  solute carrier family 49 member A3 isoform X18

    RNA

    1. XR_008487047.1 RNA Sequence

    2. XR_008487048.1 RNA Sequence

    3. XR_008487049.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6UXD7.1 GenPept UniProtKB/Swiss-Prot:Q6UXD7

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