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    SLC25A41 solute carrier family 25 member 41 [ Homo sapiens (human) ]

    Gene ID: 284427, updated on 10-Dec-2024

    Summary

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    Official Symbol
    SLC25A41provided by HGNC
    Official Full Name
    solute carrier family 25 member 41provided by HGNC
    Primary source
    HGNC:HGNC:28533
    See related
    Ensembl:ENSG00000181240 MIM:610822; AllianceGenome:HGNC:28533
    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
    APC4; SCaMC-3L
    Summary
    SLC25A41 belongs to the SLC25 family of mitochondrial carrier proteins (Haitina et al., 2006 [PubMed 16949250]).[supplied by OMIM, Mar 2008]
    Expression
    Broad expression in testis (RPKM 3.0), brain (RPKM 0.8) and 14 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See SLC25A41 in Genome Data Viewer
    Location:
    19p13.3
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (6426037..6436267, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (6414920..6423279, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (6426048..6433774, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene adenylate kinase isoenzyme 1-like Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:6411708-6412532 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:6412533-6413357 Neighboring gene KH-type splicing regulatory protein Neighboring gene microRNA 3940 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13824 Neighboring gene solute carrier family 25 member 23 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9950 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9951 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9952 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:6464149-6464690 Neighboring gene DENN domain containing 1C Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:6475606-6476345 Neighboring gene crumbs cell polarity complex component 3 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:6479893-6480392 Neighboring gene Sharpr-MPRA regulatory region 5032 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13825 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9954 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9955 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9956 Neighboring gene tubulin beta 4A class IVa

    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. Fourteen novel human members of mitochondrial solute carrier family 25 (SLC25) widely expressed in the central nervous system. Haitina T, et al. Genomics, 2006 Dec. PMID 16949250
    2. SUMO targets the APC/C to regulate transition from metaphase to anaphase. Eifler K, et al. Nat Commun, 2018 Mar 16. PMID 29549242, Free PMC Article
    3. The mitochondrial transporter family SLC25: identification, properties and physiopathology. Palmieri F. Mol Aspects Med, 2013 Apr-Jun. PMID 23266187
    4. The BioPlex Network: A Systematic Exploration of the Human Interactome. Huttlin EL, et al. Cell, 2015 Jul 16. PMID 26186194, Free PMC Article
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. Ota T, et al. Nat Genet, 2004 Jan. PMID 14702039

    See all (9) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The APC4 subunit is the major SUMO target in the anaphase-promoting complex/cyclosome, containing SUMO acceptor lysines at positions 772 and 798.
      Title: SUMO targets the APC/C to regulate transition from metaphase to anaphase.
    2. Compares and contrasts all the known human SLC25A* genes and includes functional information.
      Title: The mitochondrial transporter family SLC25: identification, properties and physiopathology.
    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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    Homology

    Clone Names

    • FLJ40442, MGC34725

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ADP transmembrane transporter activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables ATP transmembrane transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables ATP transmembrane transporter activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Process Evidence Code Pubs
    involved_in ADP transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in ADP transport ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in ATP transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in ATP transport ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in mitochondrial ADP transmembrane transport ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in mitochondrial ATP transmembrane transport ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    located_in mitochondrial inner membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in mitochondrion ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    mitochondrial carrier protein SCaMC-3L
    Names
    SCaMC-3-like
    mitochondrial ATP-Mg/Pi carrier protein SLC25A41
    small calcium-binding mitochondrial carrier protein 3-like

    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_001321298.2 → NP_001308227.1  mitochondrial carrier protein SCaMC-3L isoform b

      Status: VALIDATED

      Source sequence(s)
      AC011539, AK097761, BC031671
      UniProtKB/Swiss-Prot
      Q8N5S1
      Conserved Domains (1) summary
      pfam00153
      Location:44 → 136
      Mito_carr; Mitochondrial carrier protein

    2. NM_173637.4 → NP_775908.2  mitochondrial carrier protein SCaMC-3L isoform a

      See identical proteins and their annotated locations for NP_775908.2

      Status: VALIDATED

      Source sequence(s)
      AC011539, AK097761, BC031671
      Consensus CDS
      CCDS45937.1
      UniProtKB/Swiss-Prot
      A8MQ40, D6W642, Q8N5S1, Q8N7R4
      Related
      ENSP00000322649.5, ENST00000321510.7
      Conserved Domains (2) summary
      PTZ00169
      Location:87 → 368
      PTZ00169; ADP/ATP transporter on adenylate translocase; Provisional
      pfam00153
      Location:182 → 274
      Mito_carr; Mitochondrial carrier protein

    RNA

    1. NR_135612.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      BC031671
      Related
      ENST00000458275.6

    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_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      6426037..6436267 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011527926.1 → XP_011526228.1  mitochondrial carrier protein SCaMC-3L isoform X1

      Conserved Domains (2) summary
      PTZ00169
      Location:23 → 304
      PTZ00169; ADP/ATP transporter on adenylate translocase; Provisional
      pfam00153
      Location:118 → 210
      Mito_carr; Mitochondrial carrier protein

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      6414920..6423279 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8N5S1.2 GenPept UniProtKB/Swiss-Prot:Q8N5S1

    Gene LinkOut

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

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