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    SLC45A4 solute carrier family 45 member 4 [ Homo sapiens (human) ]

    Gene ID: 57210, updated on 27-Nov-2024

    Summary

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    Official Symbol
    SLC45A4provided by HGNC
    Official Full Name
    solute carrier family 45 member 4provided by HGNC
    Primary source
    HGNC:HGNC:29196
    See related
    Ensembl:ENSG00000022567 MIM:619581; AllianceGenome:HGNC:29196
    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
    Summary
    Predicted to enable sucrose:proton symporter activity. Predicted to be involved in sucrose transport. Predicted to be active in membrane. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in testis (RPKM 5.0), stomach (RPKM 3.0) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See SLC45A4 in Genome Data Viewer
    Location:
    8q24.3
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (141207174..141308288, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (142328543..142429759, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (142217273..142318387, complement)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:142138949-142139779 Neighboring gene DENND3 antisense RNA 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:142144757-142145375 Neighboring gene DENN domain containing 3 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:142163840-142164798 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:142167099-142167874 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28046 Neighboring gene Sharpr-MPRA regulatory region 5779 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:142183015-142183516 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:142183517-142184016 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28047 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28048 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:142191187-142191687 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28049 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28050 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28051 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:142194501-142195455 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:142202224-142202724 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:142202725-142203225 Neighboring gene uncharacterized LOC105375785 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19590 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:142218415-142218922 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:142218923-142219430 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:142229255-142229790 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:142231827-142232566 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:142232567-142233305 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:142237903-142238756 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:142239613-142240468 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:142240469-142241324 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:142248324-142248883 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:142248884-142249442 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:142250482-142251464 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28052 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:142256416-142257096 Neighboring gene SLC45A4 antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:142268351-142268872 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:142280921-142281591 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:142281592-142282261 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:142286540-142287116 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:142288141-142288950 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:142291898-142292707 Neighboring gene ReSE screen-validated silencer GRCh37_chr8:142293955-142294169 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:142299831-142300486 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:142309143-142309849 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:142309892-142310741 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:142310742-142311590 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19591 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19592 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:142334125-142334625 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:142339206-142339742 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:142339743-142340277 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:142345611-142346110 Neighboring gene Sharpr-MPRA regulatory region 12881 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:142352272-142352772 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:142355946-142356566 Neighboring gene long intergenic non-protein coding RNA 1300 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:142361861-142362840 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:142366583-142367204 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:142367205-142367826 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:142369677-142370273 Neighboring gene G protein-coupled receptor 20

    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
    • 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. The Slc45a4 Gene Regulates Pigmentation in a Manner Distinct from that of the OCA4 Gene Slc45a2. Brito S, et al. J Invest Dermatol, 2024 Mar. PMID 37775036
    2. SLC45A4 promotes glycolysis and prevents AMPK/ULK1-induced autophagy in TP53 mutant pancreatic ductal adenocarcinoma. Chen W, et al. J Gene Med, 2021 Sep. PMID 34010493, Free PMC Article
    3. Proton-associated sucrose transport of mammalian solute carrier family 45: an analysis in Saccharomyces cerevisiae. Bartölke R, et al. Biochem J, 2014 Dec 1. PMID 25164149
    4. Characterization of cDNA clones selected by the GeneMark analysis from size-fractionated cDNA libraries from human brain. Hirosawa M, et al. DNA Res, 1999 Oct 29. PMID 10574461
    5. Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4. Psychiatric GWAS Consortium Bipolar Disorder Working Group. Nat Genet, 2011 Sep 18. PMID 21926972, Free PMC Article

    See all (13) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The Slc45a4 Gene Regulates Pigmentation in a Manner Distinct from that of the OCA4 Gene Slc45a2.
      Title: The Slc45a4 Gene Regulates Pigmentation in a Manner Distinct from that of the OCA4 Gene Slc45a2.
    2. SLC45A4 promotes glycolysis and prevents AMPK/ULK1-induced autophagy in TP53 mutant pancreatic ductal adenocarcinoma.
      Title: SLC45A4 promotes glycolysis and prevents AMPK/ULK1-induced autophagy in TP53 mutant pancreatic ductal adenocarcinoma.
    Submit: New GeneRIF Correction

    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

    EBI GWAS Catalog

    Description
    Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4.
    EBI GWAS Catalog

    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

    • KIAA1126

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables sucrose:proton symporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables sucrose:proton symporter activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Process Evidence Code Pubs
    involved_in sucrose transport ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    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 45 member 4

    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_001080431.3 → NP_001073900.1  solute carrier family 45 member 4 isoform 2

      See identical proteins and their annotated locations for NP_001073900.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and 5' coding region and uses an alternate start codon compared to variant 1. This variant (2) also uses an alternate splice site in the 3' coding region which results in a frame shift. The encoded isoform (2) is shorter and has a distinct N- and C- termini compared to isoform 1.
      Source sequence(s)
      AC011676, AI769055, AK128212
      Consensus CDS
      CCDS34948.1
      UniProtKB/TrEMBL
      B2RXG1
      Related
      ENSP00000024061.3, ENST00000024061.7
      Conserved Domains (1) summary
      cd06174
      Location:24 → 200
      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 ...

    2. NM_001286646.2 → NP_001273575.1  solute carrier family 45 member 4 isoform 1

      See identical proteins and their annotated locations for NP_001273575.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AC011676
      Consensus CDS
      CCDS75795.1
      UniProtKB/TrEMBL
      B2RXG1, E7EV90
      Related
      ENSP00000428137.1, ENST00000517878.6
      Conserved Domains (1) summary
      cl28910
      Location:52 → 270
      MFS; Major Facilitator Superfamily

    3. NM_001286648.2 → NP_001273577.1  solute carrier family 45 member 4 isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and 5' coding region and uses an alternate start codon compared to variant 1. This variant (2) also uses an alternate splice site in the 3' coding region which results in a frame shift. The encoded isoform (3) is shorter and has a distinct N- and C- termini compared to isoform 1
      Source sequence(s)
      AK128212, BC090891
      Consensus CDS
      CCDS69550.1
      UniProtKB/TrEMBL
      B2RXG1
      Related
      ENSP00000429059.1, ENST00000519067.5
      Conserved Domains (1) summary
      cd06174
      Location:24 → 200
      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 ...

    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_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      141207174..141308288 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011517179.3 → XP_011515481.1  solute carrier family 45 member 4 isoform X13

      UniProtKB/TrEMBL
      B2RXG1
      Conserved Domains (1) summary
      cd06174
      Location:325 → 521
      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 ...

    2. XM_011517171.3 → XP_011515473.1  solute carrier family 45 member 4 isoform X2

      See identical proteins and their annotated locations for XP_011515473.1

      UniProtKB/TrEMBL
      B2RXG1, E7EV90
      Conserved Domains (1) summary
      cl28910
      Location:52 → 270
      MFS; Major Facilitator Superfamily

    3. XM_047422002.1 → XP_047277958.1  solute carrier family 45 member 4 isoform X3

    4. XM_047422001.1 → XP_047277957.1  solute carrier family 45 member 4 isoform X2

      UniProtKB/TrEMBL
      E7EV90

    5. XM_047422014.1 → XP_047277970.1  solute carrier family 45 member 4 isoform X13

    6. XM_011517174.3 → XP_011515476.1  solute carrier family 45 member 4 isoform X10

      UniProtKB/TrEMBL
      B2RXG1
      Conserved Domains (1) summary
      cd06174
      Location:24 → 200
      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 ...

    7. XM_047422015.1 → XP_047277971.1  solute carrier family 45 member 4 isoform X14

    8. XM_047422011.1 → XP_047277967.1  solute carrier family 45 member 4 isoform X11

    9. XM_011517173.3 → XP_011515475.2  solute carrier family 45 member 4 isoform X1

    10. XM_047421999.1 → XP_047277955.1  solute carrier family 45 member 4 isoform X1

    11. XM_047422012.1 → XP_047277968.1  solute carrier family 45 member 4 isoform X11

    12. XM_047422009.1 → XP_047277965.1  solute carrier family 45 member 4 isoform X9

      UniProtKB/Swiss-Prot
      Q5BKX6, Q6ZRI2, Q9ULU3

    13. XM_047421998.1 → XP_047277954.1  solute carrier family 45 member 4 isoform X1

    14. XM_047421997.1 → XP_047277953.1  solute carrier family 45 member 4 isoform X1

    15. XM_047422004.1 → XP_047277960.1  solute carrier family 45 member 4 isoform X5

    16. XM_047422005.1 → XP_047277961.1  solute carrier family 45 member 4 isoform X6

    17. XM_047422008.1 → XP_047277964.1  solute carrier family 45 member 4 isoform X9

      UniProtKB/Swiss-Prot
      Q5BKX6, Q6ZRI2, Q9ULU3

    18. XM_047422010.1 → XP_047277966.1  solute carrier family 45 member 4 isoform X9

      UniProtKB/Swiss-Prot
      Q5BKX6, Q6ZRI2, Q9ULU3

    19. XM_047422000.1 → XP_047277956.1  solute carrier family 45 member 4 isoform X1

    20. XM_047422013.1 → XP_047277969.1  solute carrier family 45 member 4 isoform X11

    21. XM_011517172.3 → XP_011515474.2  solute carrier family 45 member 4 isoform X9

      UniProtKB/Swiss-Prot
      Q5BKX6, Q6ZRI2, Q9ULU3

    22. XM_047422007.1 → XP_047277963.1  solute carrier family 45 member 4 isoform X8

    23. XM_011517177.3 → XP_011515479.2  solute carrier family 45 member 4 isoform X12

    24. XM_047422006.1 → XP_047277962.1  solute carrier family 45 member 4 isoform X7

    25. XM_047422003.1 → XP_047277959.1  solute carrier family 45 member 4 isoform X4

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      142328543..142429759 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054360881.1 → XP_054216856.1  solute carrier family 45 member 4 isoform X13

    2. XM_054360865.1 → XP_054216840.1  solute carrier family 45 member 4 isoform X2

    3. XM_054360866.1 → XP_054216841.1  solute carrier family 45 member 4 isoform X3

    4. XM_054360864.1 → XP_054216839.1  solute carrier family 45 member 4 isoform X2

    5. XM_054360876.1 → XP_054216851.1  solute carrier family 45 member 4 isoform X10

    6. XM_054360882.1 → XP_054216857.1  solute carrier family 45 member 4 isoform X14

    7. XM_054360877.1 → XP_054216852.1  solute carrier family 45 member 4 isoform X11

    8. XM_054360859.1 → XP_054216834.1  solute carrier family 45 member 4 isoform X1

    9. XM_054360862.1 → XP_054216837.1  solute carrier family 45 member 4 isoform X1

    10. XM_054360860.1 → XP_054216835.1  solute carrier family 45 member 4 isoform X1

    11. XM_054360873.1 → XP_054216848.1  solute carrier family 45 member 4 isoform X9

    12. XM_054360878.1 → XP_054216853.1  solute carrier family 45 member 4 isoform X11

    13. XM_054360861.1 → XP_054216836.1  solute carrier family 45 member 4 isoform X1

    14. XM_054360868.1 → XP_054216843.1  solute carrier family 45 member 4 isoform X5

    15. XM_054360869.1 → XP_054216844.1  solute carrier family 45 member 4 isoform X6

    16. XM_054360858.1 → XP_054216833.1  solute carrier family 45 member 4 isoform X1

    17. XM_054360872.1 → XP_054216847.1  solute carrier family 45 member 4 isoform X9

    18. XM_054360875.1 → XP_054216850.1  solute carrier family 45 member 4 isoform X9

    19. XM_054360863.1 → XP_054216838.1  solute carrier family 45 member 4 isoform X1

    20. XM_054360879.1 → XP_054216854.1  solute carrier family 45 member 4 isoform X11

    21. XM_054360874.1 → XP_054216849.1  solute carrier family 45 member 4 isoform X9

    22. XM_054360871.1 → XP_054216846.1  solute carrier family 45 member 4 isoform X8

    23. XM_054360880.1 → XP_054216855.1  solute carrier family 45 member 4 isoform X12

    24. XM_054360870.1 → XP_054216845.1  solute carrier family 45 member 4 isoform X7

    25. XM_054360867.1 → XP_054216842.1  solute carrier family 45 member 4 isoform X4

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5BKX6.2 GenPept UniProtKB/Swiss-Prot:Q5BKX6

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