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

Gene ID: 84179, updated on 3-Apr-2024

Summary

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 integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]
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

See SLC49A3 in Genome Data Viewer
Location:
4p16.3
Exon count:
15
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (676826..691624, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (676500..691967, complement)
105.20220307 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

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • FLJ22269

Gene Ontology Provided by GOA

Function Evidence Code Pubs
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

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_001294341.2NP_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:33442
    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:497541
    Senescence_reg; Senescence regulator
    pfam07690
    Location:41391
    MFS_1; Major Facilitator Superfamily
  2. NM_001294342.2NP_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:46323
    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:378422
    Senescence_reg; Senescence regulator
    pfam07690
    Location:62272
    MFS_1; Major Facilitator Superfamily
  3. NM_001378059.1NP_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:355460
    PHA03381; tegument protein VP22; Provisional
    cl28910
    Location:28345
    MFS; Major Facilitator Superfamily
  4. NM_001378060.1NP_001364989.1  solute carrier family 49 member A3 isoform 5

    Status: VALIDATED

    Source sequence(s)
    AC107464
    Conserved Domains (2) summary
    PHA03381
    Location:354459
    PHA03381; tegument protein VP22; Provisional
    cl28910
    Location:28344
    MFS; Major Facilitator Superfamily
  5. NM_001378061.1NP_001364990.1  solute carrier family 49 member A3 isoform 6

    Status: VALIDATED

    Source sequence(s)
    AC107464
    Conserved Domains (2) summary
    PHA03381
    Location:373478
    PHA03381; tegument protein VP22; Provisional
    cl28910
    Location:28363
    MFS; Major Facilitator Superfamily
  6. NM_001378062.1NP_001364991.1  solute carrier family 49 member A3 isoform 7

    Status: VALIDATED

    Source sequence(s)
    AC107464
    Conserved Domains (2) summary
    PHA03381
    Location:332437
    PHA03381; tegument protein VP22; Provisional
    cl28910
    Location:28322
    MFS; Major Facilitator Superfamily
  7. NM_032219.4NP_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:33441
    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:474540
    Senescence_reg; Senescence regulator
    pfam07690
    Location:41390
    MFS_1; Major Facilitator Superfamily

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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_047416290.1XP_047272246.1  solute carrier family 49 member A3 isoform X11

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

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

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

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

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

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

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

    Conserved Domains (2) summary
    cd06174
    Location:79373
    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:78322
    MFS_1; Major Facilitator Superfamily
  9. XM_047416284.1XP_047272240.1  solute carrier family 49 member A3 isoform X7

  10. XM_006713918.2XP_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:3378
    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:411477
    Senescence_reg; Senescence regulator
    pfam07690
    Location:3327
    MFS_1; Major Facilitator Superfamily
  11. XM_047416280.1XP_047272236.1  solute carrier family 49 member A3 isoform X2

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

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

  14. XM_047416287.1XP_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_054351038.1XP_054207013.1  solute carrier family 49 member A3 isoform X11

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

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

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

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

    UniProtKB/Swiss-Prot
    A8K7J5, Q6UXD7, Q6XYD4, Q8N6H1, Q9H6H6
  6. XM_054351037.1XP_054207012.1  solute carrier family 49 member A3 isoform X17

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

    UniProtKB/TrEMBL
    D6R9R0
  8. XM_054351035.1XP_054207010.1  solute carrier family 49 member A3 isoform X15

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

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

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

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

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

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

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

  16. XM_054351040.1XP_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