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

Gene ID: 84179, updated on 2-Nov-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, Nov 2024]
Expression
Ubiquitous expression in testis (RPKM 3.9), lung (RPKM 2.5) and 25 other tissues See more
Orthologs
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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)

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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