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SFXN5 sideroflexin 5 [ Homo sapiens (human) ]

Gene ID: 94097, updated on 2-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 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)

Genotypes

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

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