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

Gene ID: 284427, updated on 5-Mar-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
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Genomic context

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Location:
19p13.3
Exon count:
10
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (6426037..6436267, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (6414920..6423279, complement)
105.20220307 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)

Genotypes

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_2023_10

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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