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

Gene ID: 57210, updated on 22-Sep-2022

Summary

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 integral component of membrane. Predicted to be active in membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in testis (RPKM 5.0), stomach (RPKM 3.0) and 24 other tissues See more
Orthologs
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Genomic context

See SLC45A4 in Genome Data Viewer
Location:
8q24.3
Exon count:
19
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (141207174..141308288, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (142328543..142429759, complement)
105.20220307 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 DENN domain containing 3 Neighboring gene Sharpr-MPRA regulatory region 5779 Neighboring gene uncharacterized LOC105375785 Neighboring gene uncharacterized LOC105375787 Neighboring gene Sharpr-MPRA regulatory region 12881 Neighboring gene long intergenic non-protein coding RNA 1300

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

Phenotypes

EBI GWAS Catalog

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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
PubMed 
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
 
Component Evidence Code Pubs
is_active_in membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

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_001080431.3NP_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/Swiss-Prot
    Q5BKX6
    Related
    ENSP00000024061.3, ENST00000024061.7
    Conserved Domains (1) summary
    cd06174
    Location:24200
    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_001286646.2NP_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/Swiss-Prot
    Q5BKX6
    UniProtKB/TrEMBL
    B2RXG1, E7EV90
    Related
    ENSP00000428137.1, ENST00000517878.6
    Conserved Domains (1) summary
    cl28910
    Location:52270
    MFS; Major Facilitator Superfamily
  3. NM_001286648.2NP_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/Swiss-Prot
    Q5BKX6
    Related
    ENSP00000429059.1, ENST00000519067.5
    Conserved Domains (1) summary
    cd06174
    Location:24200
    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: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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_011517179.3XP_011515481.1  solute carrier family 45 member 4 isoform X13

    Conserved Domains (1) summary
    cd06174
    Location:325521
    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_011517171.3XP_011515473.1  solute carrier family 45 member 4 isoform X2

    See identical proteins and their annotated locations for XP_011515473.1

    UniProtKB/TrEMBL
    E7EV90
    Conserved Domains (1) summary
    cl28910
    Location:52270
    MFS; Major Facilitator Superfamily
  3. XM_047422002.1XP_047277958.1  solute carrier family 45 member 4 isoform X3

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

    UniProtKB/TrEMBL
    E7EV90
  5. XM_047422014.1XP_047277970.1  solute carrier family 45 member 4 isoform X13

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

    Conserved Domains (1) summary
    cd06174
    Location:24200
    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_047422015.1XP_047277971.1  solute carrier family 45 member 4 isoform X14

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

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

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

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

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

    UniProtKB/Swiss-Prot
    Q9ULU3
  13. XM_047421998.1XP_047277954.1  solute carrier family 45 member 4 isoform X1

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

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

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

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

    UniProtKB/Swiss-Prot
    Q9ULU3
  18. XM_047422010.1XP_047277966.1  solute carrier family 45 member 4 isoform X9

    UniProtKB/Swiss-Prot
    Q9ULU3
  19. XM_047422000.1XP_047277956.1  solute carrier family 45 member 4 isoform X1

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

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

    UniProtKB/Swiss-Prot
    Q9ULU3
  22. XM_047422007.1XP_047277963.1  solute carrier family 45 member 4 isoform X8

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

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

  25. XM_047422003.1XP_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)