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    SLC35G5 solute carrier family 35 member G5 [ Homo sapiens (human) ]

    Gene ID: 83650, updated on 2-Nov-2024

    Summary

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    Official Symbol
    SLC35G5provided by HGNC
    Official Full Name
    solute carrier family 35 member G5provided by HGNC
    Primary source
    HGNC:HGNC:15546
    See related
    Ensembl:ENSG00000177710 MIM:615199; AllianceGenome:HGNC:15546
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    AMAC; AMAC1L2
    Summary
    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]
    Orthologs
    all
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    Genomic context

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    See SLC35G5 in Genome Data Viewer
    Location:
    8p23.1
    Exon count:
    1
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (11331012..11332360)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (8406654..8408002, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (11188521..11189869)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 529 Neighboring gene Sharpr-MPRA regulatory region 9232 Neighboring gene ribosomal protein L19 pseudogene 13 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18926 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27003 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27004 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:11141809-11142310 Neighboring gene myotubularin related protein 9 Neighboring gene uncharacterized LOC101929290 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:11204715-11205338 Neighboring gene TDH antisense RNA 1 Neighboring gene L-threonine dehydrogenase (pseudogene) Neighboring gene FAM167A antisense RNA 1 Neighboring gene RNA, 7SL, cytoplasmic 293, pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Emergence of primate genes by retrotransposon-mediated sequence transduction. Xing J, et al. Proc Natl Acad Sci U S A, 2006 Nov 21. PMID 17101974, Free PMC Article
    2. Physical and transcriptional map of the critical region for keratolytic winter erythema (KWE) on chromosome 8p22-p23 between D8S550 and D8S1759. Appel S, et al. Eur J Hum Genet, 2002 Jan. PMID 11896452
    3. Investigation of variants identified in caucasian genome-wide association studies for plasma high-density lipoprotein cholesterol and triglycerides levels in Mexican dyslipidemic study samples. Weissglas-Volkov D, et al. Circ Cardiovasc Genet, 2010 Feb. PMID 20160193, Free PMC Article
    4. Genetic loci associated with lipid concentrations and cardiovascular risk factors in the Korean population. Park MH, et al. J Med Genet, 2011 Jan. PMID 20972250
    5. Common variants at 30 loci contribute to polygenic dyslipidemia. Kathiresan S, et al. Nat Genet, 2009 Jan. PMID 19060906, Free PMC Article

    See all (9) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
      Title: Evaluating the discriminative power of multi-trait genetic risk scores for type 2 diabetes in a northern Swedish population.
    2. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic loci associated with lipid concentrations and cardiovascular risk factors in the Korean population.
    3. Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
      Title: Common variants at 30 loci contribute to polygenic dyslipidemia.
    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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    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 35 member G5
    Names
    acyl-malonyl condensing enzyme 1-like 2
    acyl-malonyl-condensing enzyme 1-like protein 2
    protein AMAC1L2

    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_054028.2 → NP_473369.1  solute carrier family 35 member G5

      See identical proteins and their annotated locations for NP_473369.1

      Status: REVIEWED

      Source sequence(s)
      AF131216
      Consensus CDS
      CCDS5980.1
      UniProtKB/Swiss-Prot
      A2RRL6, Q96KT7
      Related
      ENSP00000371872.5, ENST00000382435.5
      Conserved Domains (1) summary
      COG0697
      Location:52 → 326
      RhaT; Permease of the drug/metabolite transporter (DMT) superfamily [Carbohydrate transport and metabolism, Amino acid transport and metabolism, General function prediction only]

    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
      11331012..11332360
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_018654717.1 Reference GRCh38.p14 PATCHES

      Range
      2014485..2015833 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      8406654..8408002 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96KT7.1 GenPept UniProtKB/Swiss-Prot:Q96KT7

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
    Molecular Biology Databases
    Research Materials
    Tools