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    SFXN5 sideroflexin 5 [ Homo sapiens (human) ]

    Gene ID: 94097, updated on 27-Nov-2024

    Summary

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    Official Symbol
    SFXN5provided by HGNC
    Official Full Name
    sideroflexin 5provided by HGNC
    Primary source
    HGNC:HGNC:16073
    See related
    Ensembl:ENSG00000144040 MIM:615572; AllianceGenome:HGNC:16073
    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
    BBG-TCC; SLC56A5
    Summary
    Predicted to enable citrate transmembrane transporter activity. Predicted to be involved in citrate transport and mitochondrial transmembrane transport. Located in mitochondrion. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in brain (RPKM 13.0), liver (RPKM 3.8) and 20 other tissues See more
    Orthologs
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    Genomic context

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    See SFXN5 in Genome Data Viewer
    Location:
    2p13.2
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (72942036..73071712, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (72954982..73084686, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (73169165..73298841, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene CRISPRi-validated cis-regulatory element chr2.2721 Neighboring gene zinc finger MYM-type containing 1 pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:73143395-73144012 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11627 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:73144013-73144629 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11629 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:73164255-73164932 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:73165285-73165786 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:73168998-73169986 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:73177215-73177716 Neighboring gene empty spiracles homeobox 1 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:73177717-73178218 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:73178721-73179222 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:73179223-73179724 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11630 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:73186243-73186743 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:73191385-73192078 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:73192079-73192770 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:73209618-73210118 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:73216229-73216428 Neighboring gene Sharpr-MPRA regulatory region 2442 Neighboring gene uncharacterized LOC107985897 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:73263753-73264638 Neighboring gene Sharpr-MPRA regulatory region 10332 Neighboring gene uncharacterized LOC105374800 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:73282484-73282984 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:73282985-73283485 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:73285820-73286320 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11631 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16023 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16024 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:73306762-73307360 Neighboring gene Sharpr-MPRA regulatory region 6541 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16025 Neighboring gene RAB11 family interacting protein 5 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:73338684-73338927 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11632 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11633 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:73390968-73391162 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11634 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:73403343-73404016 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:73404017-73404690 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:73421928-73422097 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:73430545-73431096 Neighboring gene notochord homeobox

    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 human sideroflexin 5 (SFXN5) gene: sequence, expression analysis and exclusion as a candidate for PARK3. Lockhart PJ, et al. Gene, 2002 Feb 20. PMID 12039050
    2. Identification and characterization of a novel mitochondrial tricarboxylate carrier. Miyake S, et al. Biochem Biophys Res Commun, 2002 Jul 12. PMID 12150972
    3. SFXN1 is a mitochondrial serine transporter required for one-carbon metabolism. Kory N, et al. Science, 2018 Nov 16. PMID 30442778, Free PMC Article
    4. AMPK Interactome Reveals New Function in Non-homologous End Joining DNA Repair. Chen Z, et al. Mol Cell Proteomics, 2020 Mar. PMID 31900314, Free PMC Article
    5. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. Hillier LW, et al. Nature, 2005 Apr 7. PMID 15815621

    See all (18) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC120413, MGC120415

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables citrate transmembrane transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables monoatomic ion transmembrane transporter activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in amino acid transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in citrate transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in mitochondrial transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in monoatomic ion transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of cold-induced thermogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in mitochondrial inner membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mitochondrion HTP PubMed 
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    sideroflexin-5

    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_001330400.2 → NP_001317329.1  sideroflexin-5 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC012366
      Conserved Domains (1) summary
      pfam03820
      Location:32 → 315
      Mtc; Tricarboxylate carrier

    2. NM_001330401.2 → NP_001317330.1  sideroflexin-5 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC012366
      Consensus CDS
      CCDS82469.1
      UniProtKB/TrEMBL
      B8ZZJ6
      Related
      ENSP00000387076.1, ENST00000410065.5
      Conserved Domains (1) summary
      pfam03820
      Location:32 → 213
      Mtc; Tricarboxylate carrier

    3. NM_001330402.2 → NP_001317331.1  sideroflexin-5 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC012366
      Conserved Domains (1) summary
      pfam03820
      Location:32 → 278
      Mtc; Tricarboxylate carrier

    4. NM_001330403.2 → NP_001317332.1  sideroflexin-5 isoform 5 precursor

      Status: VALIDATED

      Source sequence(s)
      AC012366

    5. NM_001330404.2 → NP_001317333.1  sideroflexin-5 isoform 6 precursor

      Status: VALIDATED

      Source sequence(s)
      AC012366
      UniProtKB/TrEMBL
      B4DGS9
      Conserved Domains (1) summary
      pfam03820
      Location:1 → 236
      Mtc; Tricarboxylate carrier

    6. NM_001330405.2 → NP_001317334.1  sideroflexin-5 isoform 7 precursor

      Status: VALIDATED

      Source sequence(s)
      AC012366

    7. NM_001330406.2 → NP_001317335.1  sideroflexin-5 isoform 8 precursor

      Status: VALIDATED

      Source sequence(s)
      AC012366

    8. NM_001330407.2 → NP_001317336.1  sideroflexin-5 isoform 9 precursor

      Status: VALIDATED

      Source sequence(s)
      AC012366
      UniProtKB/TrEMBL
      B4DGS9
      Conserved Domains (1) summary
      pfam03820
      Location:1 → 211
      Mtc; Tricarboxylate carrier

    9. NM_001330408.2 → NP_001317337.1  sideroflexin-5 isoform 10 precursor

      Status: VALIDATED

      Source sequence(s)
      AC012366
      Conserved Domains (1) summary
      pfam03820
      Location:1 → 174
      Mtc; Tricarboxylate carrier

    10. NM_001330410.2 → NP_001317339.1  sideroflexin-5 isoform 6 precursor

      Status: VALIDATED

      Source sequence(s)
      AC012366
      UniProtKB/TrEMBL
      B4DGS9
      Related
      ENST00000474528.5
      Conserved Domains (1) summary
      pfam03820
      Location:1 → 236
      Mtc; Tricarboxylate carrier

    11. NM_001330411.2 → NP_001317340.1  sideroflexin-5 isoform 11

      Status: VALIDATED

      Source sequence(s)
      AC012366
      UniProtKB/TrEMBL
      B4DIJ8

    12. NM_001330412.2 → NP_001317341.1  sideroflexin-5 isoform 11

      Status: VALIDATED

      Source sequence(s)
      AC012366
      UniProtKB/TrEMBL
      B4DIJ8

    13. NM_001371737.1 → NP_001358666.1  sideroflexin-5 isoform 12

      Status: VALIDATED

      Source sequence(s)
      AC012366
      Conserved Domains (1) summary
      pfam03820
      Location:57 → 338
      Mtc; Tricarboxylate carrier

    14. NM_001371738.1 → NP_001358667.1  sideroflexin-5 isoform 13

      Status: VALIDATED

      Source sequence(s)
      AC012366
      Conserved Domains (1) summary
      pfam03820
      Location:38 → 319
      Mtc; Tricarboxylate carrier

    15. NM_001371739.1 → NP_001358668.1  sideroflexin-5 isoform 14

      Status: VALIDATED

      Source sequence(s)
      AC012366
      Conserved Domains (1) summary
      pfam03820
      Location:36 → 317
      Mtc; Tricarboxylate carrier

    16. NM_001371740.1 → NP_001358669.1  sideroflexin-5 isoform 15

      Status: VALIDATED

      Source sequence(s)
      AC012366
      Conserved Domains (1) summary
      pfam03820
      Location:32 → 247
      Mtc; Tricarboxylate carrier

    17. NM_001371741.1 → NP_001358670.1  sideroflexin-5 isoform 16

      Status: VALIDATED

      Source sequence(s)
      AC012366
      UniProtKB/TrEMBL
      H7C1S9
      Related
      ENSP00000402141.1, ENST00000411783.5
      Conserved Domains (1) summary
      pfam03820
      Location:27 → 212
      Mtc; Tricarboxylate carrier

    18. NM_001371742.1 → NP_001358671.1  sideroflexin-5 isoform 17

      Status: VALIDATED

      Source sequence(s)
      AC012366
      Conserved Domains (1) summary
      pfam03820
      Location:32 → 208
      Mtc; Tricarboxylate carrier

    19. NM_001371743.1 → NP_001358672.1  sideroflexin-5 isoform 18

      Status: VALIDATED

      Source sequence(s)
      AC012366
      Conserved Domains (1) summary
      pfam03820
      Location:32 → 198
      Mtc; Tricarboxylate carrier

    20. NM_144579.3 → NP_653180.1  sideroflexin-5 isoform 2

      See identical proteins and their annotated locations for NP_653180.1

      Status: VALIDATED

      Source sequence(s)
      AC012366
      Consensus CDS
      CCDS1922.1
      UniProtKB/Swiss-Prot
      A8K116, Q494Y3, Q53T29, Q8TD22
      Related
      ENSP00000272433.2, ENST00000272433.7
      Conserved Domains (1) summary
      pfam03820
      Location:27 → 340
      Mtc; Tricarboxylate carrier

    RNA

    1. NR_138476.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC012366

    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_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      72942036..73071712 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      72954982..73084686 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8TD22.1 GenPept UniProtKB/Swiss-Prot:Q8TD22

    Gene LinkOut

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

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