This gene is intronless and probably arose from retrotransposition of a similar gene. It has high sequence similarity to the gene encoding acyl-malonyl condensing enzyme on chromosome 17. [provided by RefSeq, Aug 2011] See more...

Aliases for SLC35G5 Gene

Aliases for SLC35G5 Gene

  • Solute Carrier Family 35 Member G5 2 3 4 5
  • Acyl-Malonyl-Condensing Enzyme 1-Like Protein 2 3 4
  • Acyl-Malonyl Condensing Enzyme 1-Like 2 2 3
  • AMAC1L2 3 4
  • AMAC 3 4
  • Solute Carrier Family 35, Member G5 2
  • Protein AMAC1L2 3
  • SLC35G5 5

External Ids for SLC35G5 Gene

Previous HGNC Symbols for SLC35G5 Gene

  • AMAC
  • AMAC1L2

Previous GeneCards Identifiers for SLC35G5 Gene

  • GC08P011189
  • GC08P011332
  • GC08P011337

Summaries for SLC35G5 Gene

Entrez Gene Summary for SLC35G5 Gene

  • This gene is intronless and probably arose from retrotransposition of a similar gene. It has high sequence similarity to the gene encoding acyl-malonyl condensing enzyme on chromosome 17. [provided by RefSeq, Aug 2011]

GeneCards Summary for SLC35G5 Gene

SLC35G5 (Solute Carrier Family 35 Member G5) is a Protein Coding gene. Diseases associated with SLC35G5 include Keratolytic Winter Erythema and Methylmalonic Acidemia. An important paralog of this gene is SLC35G6.

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SLC35G5 Gene

Genomics for SLC35G5 Gene

GeneHancer (GH) Regulatory Elements Pubs


GeneHancers around SLC35G5 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SLC35G5

Genomic Locations for SLC35G5 Gene

Latest Assembly
chr8:11,331,012-11,332,360
(GRCh38/hg38)
Size:
1,349 bases
Orientation:
Plus strand

Previous Assembly
chr8:11,188,521-11,189,869
(GRCh37/hg19 by Entrez Gene)
Size:
1,349 bases
Orientation:
Plus strand

chr8:11,188,397-11,189,717
(GRCh37/hg19 by Ensembl)
Size:
1,321 bases
Orientation:
Plus strand

Alternative Locations (GRCh38/hg38)

  • chr8(PATCHES):2,014,485-2,015,833 (-)

Genomic View for SLC35G5 Gene

Genes around SLC35G5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC35G5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC35G5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC35G5 Gene

Proteins for SLC35G5 Gene

  • Protein details for SLC35G5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96KT7-S35G5_HUMAN
    Recommended name:
    Solute carrier family 35 member G5
    Protein Accession:
    Q96KT7
    Secondary Accessions:
    • A2RRL6

    Protein attributes for SLC35G5 Gene

    Size:
    338 amino acids
    Molecular mass:
    35161 Da
    Quaternary structure:
    No Data Available
    Miscellaneous:
    • The gene encoding this protein appears to have arisen by SVA-mediated retrotransposition of the SLC35G6 gene in the primate lineage.

neXtProt entry for SLC35G5 Gene

Post-translational modifications for SLC35G5 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SLC35G5 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for SLC35G5 Gene

Domains & Families for SLC35G5 Gene

Gene Families for SLC35G5 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted membrane proteins
  • Transporters

Protein Domains for SLC35G5 Gene

Blocks:
  • Protein of unknown function DUF6

Suggested Antigen Peptide Sequences for SLC35G5 Gene

GenScript: Design optimal peptide antigens:
  • Acyl-malonyl-condensing enzyme 1-like protein 2 (AMCL2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q96KT7

UniProtKB/Swiss-Prot:

S35G5_HUMAN :
  • Belongs to the SLC35G solute transporter family.
Family:
  • Belongs to the SLC35G solute transporter family.
genes like me logo Genes that share domains with SLC35G5: view

Function for SLC35G5 Gene

Phenotypes From GWAS Catalog for SLC35G5 Gene

Gene Ontology (GO) - Molecular Function for SLC35G5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 32296183
genes like me logo Genes that share ontologies with SLC35G5: view
genes like me logo Genes that share phenotypes with SLC35G5: view

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC35G5

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for SLC35G5 Gene

Localization for SLC35G5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC35G5 Gene

Membrane. Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SLC35G5 gene
Compartment Confidence
plasma membrane 3
extracellular 1

Gene Ontology (GO) - Cellular Components for SLC35G5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IBA 21873635
genes like me logo Genes that share ontologies with SLC35G5: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SLC35G5 Gene

Pathways & Interactions for SLC35G5 Gene

PathCards logo

SuperPathways for SLC35G5 Gene

No Data Available

Interacting Proteins for SLC35G5 Gene

STRING Interaction Network Preview (showing top 1 STRING interactants - click image to see details)
STRING Interaction Network
Selected Interacting proteins: Q96KT7-S35G5_HUMAN ENSP00000371872 for SLC35G5 Gene via UniProtKB STRING IID

Gene Ontology (GO) - Biological Process for SLC35G5 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for SLC35G5 Gene

Drugs & Compounds for SLC35G5 Gene

No Compound Related Data Available

Transcripts for SLC35G5 Gene

mRNA/cDNA for SLC35G5 Gene

1 REFSEQ mRNAs :
2 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC35G5

Alternative Splicing Database (ASD) splice patterns (SP) for SLC35G5 Gene

No ASD Table

Relevant External Links for SLC35G5 Gene

GeneLoc Exon Structure for
SLC35G5

Expression for SLC35G5 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SLC35G5 Gene

mRNA differential expression in normal tissues according to GTEx for SLC35G5 Gene

This gene is overexpressed in Testis (x10.2).

Protein differential expression in normal tissues from HIPED for SLC35G5 Gene

This gene is overexpressed in Heart (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for SLC35G5 Gene



Protein tissue co-expression partners for SLC35G5 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SLC35G5

SOURCE GeneReport for Unigene cluster for SLC35G5 Gene:

Hs.458397

mRNA Expression by UniProt/SwissProt for SLC35G5 Gene:

Q96KT7-S35G5_HUMAN
Tissue specificity: Expressed in placenta and testis.
genes like me logo Genes that share expression patterns with SLC35G5: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for SLC35G5 Gene

Orthologs for SLC35G5 Gene

This gene was present in the common ancestor of chordates.

Orthologs for SLC35G5 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia SLC35G5 29 30
  • 97.53 (n)
OneToMany
Dog
(Canis familiaris)
Mammalia -- 30
  • 82 (a)
OneToMany
Mouse
(Mus musculus)
Mammalia Slc35g3 30
  • 77 (a)
OneToMany
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 30
  • 69 (a)
OneToMany
Lizard
(Anolis carolinensis)
Reptilia -- 30
  • 53 (a)
OneToMany
Zebrafish
(Danio rerio)
Actinopterygii slc35g2b 30
  • 24 (a)
ManyToMany
slc35g2a 30
  • 24 (a)
ManyToMany
Species where no ortholog for SLC35G5 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • Cow (Bos Taurus)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Oppossum (Monodelphis domestica)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rat (Rattus norvegicus)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for SLC35G5 Gene

ENSEMBL:
Gene Tree for SLC35G5 (if available)
TreeFam:
Gene Tree for SLC35G5 (if available)
Alliance of Genome Resources:
Additional Orthologs for SLC35G5

Paralogs for SLC35G5 Gene

Paralogs for SLC35G5 Gene

(3) SIMAP similar genes for SLC35G5 Gene using alignment to 1 proteins:

  • S35G5_HUMAN
genes like me logo Genes that share paralogs with SLC35G5: view

Variants for SLC35G5 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SLC35G5 Gene

SNP ID Clinical significance and condition Chr 08 pos Variation AA Info Type
rs12681991 -- p.Leu307Pro
rs6990563 -- p.Gly46Asp

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for SLC35G5 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for SLC35G5 Gene

Variant ID Type Subtype PubMed ID
esv2658364 CNV deletion 23128226
esv34097 CNV loss 18971310
esv3616243 CNV loss 21293372
nsv1033312 CNV loss 25217958
nsv831233 CNV gain 17160897
nsv981910 CNV duplication 23825009

Variation tolerance for SLC35G5 Gene

Residual Variation Intolerance Score: 96.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 14.11; 96.11% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SLC35G5 Gene

Human Gene Mutation Database (HGMD)
SLC35G5
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SLC35G5
Leiden Open Variation Database (LOVD)
SLC35G5

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC35G5 Gene

Disorders for SLC35G5 Gene

MalaCards: The human disease database

(2) MalaCards diseases for SLC35G5 Gene - From: COP and GCD

Disorder Aliases PubMed IDs
keratolytic winter erythema
  • kwe
methylmalonic acidemia
  • methylmalonic aciduria
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for SLC35G5

genes like me logo Genes that share disorders with SLC35G5: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SLC35G5 Gene

Publications for SLC35G5 Gene

  1. Emergence of primate genes by retrotransposon-mediated sequence transduction. (PMID: 17101974) Xing J … Batzer MA (Proceedings of the National Academy of Sciences of the United States of America 2006) 3 4
  2. Physical and transcriptional map of the critical region for keratolytic winter erythema (KWE) on chromosome 8p22-p23 between D8S550 and D8S1759. (PMID: 11896452) Appel S … Rosenthal A (European journal of human genetics : EJHG 2002) 3 4
  3. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3
  4. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. (PMID: 21873635) Gaudet P … Thomas PD (Briefings in bioinformatics 2011) 3
  5. Genetic loci associated with lipid concentrations and cardiovascular risk factors in the Korean population. (PMID: 20972250) Park MH … Park HY (Journal of medical genetics 2011) 3

Products for SLC35G5 Gene

Sources for SLC35G5 Gene