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    SLC25A29 solute carrier family 25 member 29 [ Homo sapiens (human) ]

    Gene ID: 123096, updated on 7-Apr-2024

    Summary

    Official Symbol
    SLC25A29provided by HGNC
    Official Full Name
    solute carrier family 25 member 29provided by HGNC
    Primary source
    HGNC:HGNC:20116
    See related
    Ensembl:ENSG00000197119 MIM:615064; AllianceGenome:HGNC:20116
    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
    CACL; ORNT3; C14orf69
    Summary
    This gene encodes a nuclear-encoded mitochondrial protein that is a member of the large family of solute carrier family 25 (SLC25) mitochondrial transporters. The members of this superfamily are involved in numerous metabolic pathways and cell functions. This gene product was previously reported to be a mitochondrial carnitine-acylcarnitine-like (CACL) translocase (PMID:128829710) or an ornithine transporter (designated ORNT3, PMID:19287344), however, a recent study characterized the main role of this protein as a mitochondrial transporter of basic amino acids, with a preference for arginine and lysine (PMID:24652292). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Apr 2014]
    Expression
    Broad expression in thyroid (RPKM 41.5), prostate (RPKM 9.2) and 23 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    Location:
    14q32.2
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (100278567..100306444, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (94512311..94539478, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (100757453..100772781, complement)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124903380 Neighboring gene delta 4-desaturase, sphingolipid 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:100632407-100632908 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:100632909-100633408 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6075 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6076 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6077 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:100680080-100680580 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9029 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:100684247-100684748 Neighboring gene Sharpr-MPRA regulatory region 8458 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:100698662-100699162 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:100699163-100699663 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:100704543-100705395 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6081 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6082 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9030 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6083 Neighboring gene ReSE screen-validated silencer GRCh37_chr14:100711928-100712136 Neighboring gene YY1 transcription factor Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:100744670-100745650 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6084 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6085 Neighboring gene microRNA 6764 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6086 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9031 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9032 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9033 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:100771717-100772283 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6087 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6088 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6089 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9034 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9035 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:100779917-100780815 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:100784285-100784831 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9037 Neighboring gene microRNA 345 Neighboring gene RNA, 7SL, cytoplasmic 523, pseudogene

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ38975, AL157871.2

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    located_in mitochondrial inner membrane TAS
    Traceable Author Statement
    more info
     
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    mitochondrial basic amino acids transporter
    Names
    carnitine-acylcarnitine translocase like
    mitochondrial carnitine/acylcarnitine carrier protein CACL
    mitochondrial ornithine transporter 3
    solute carrier family 25 (mitochondrial carnitine/acylcarnitine carrier), member 29

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001039355.3NP_001034444.1  mitochondrial basic amino acids transporter isoform 1

      See identical proteins and their annotated locations for NP_001034444.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes isoform 1.
      Source sequence(s)
      BX247983, CF529947
      Consensus CDS
      CCDS32156.1
      UniProtKB/Swiss-Prot
      A3KMR5, Q541V0, Q8N8R3
      Related
      ENSP00000352167.3, ENST00000359232.8
      Conserved Domains (2) summary
      PTZ00169
      Location:2259
      PTZ00169; ADP/ATP transporter on adenylate translocase; Provisional
      pfam00153
      Location:185268
      Mito_carr; Mitochondrial carrier protein
    2. NM_001291813.2NP_001278742.1  mitochondrial basic amino acids transporter isoform 2

      See identical proteins and their annotated locations for NP_001278742.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) contains an additional exon that causes a frame-shift and results in the use of an in-frame downstream start codon compared to variant 1. The resulting isoform (2) has a shorter N-terminus compared to isoform 1. Variants 2-4 encode the same isoform.
      Source sequence(s)
      AK310069, BI828620, BX247983, CF529947
      UniProtKB/Swiss-Prot
      Q8N8R3
      Conserved Domains (1) summary
      pfam00153
      Location:123202
      Mito_carr; Mitochondrial carrier protein
    3. NM_001291814.2NP_001278743.1  mitochondrial basic amino acids transporter isoform 2

      See identical proteins and their annotated locations for NP_001278743.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) contains an additional exon that causes a frame-shift and results in the use of an in-frame downstream start codon compared to variant 1. The resulting isoform (2) has a shorter N-terminus compared to isoform 1. Variants 2-4 encode the same isoform.
      Source sequence(s)
      BX247983, CF529947, DA201175
      UniProtKB/Swiss-Prot
      Q8N8R3
      Conserved Domains (1) summary
      pfam00153
      Location:123202
      Mito_carr; Mitochondrial carrier protein
    4. NM_001352820.2NP_001339749.1  mitochondrial basic amino acids transporter isoform 2

      Status: REVIEWED

      Source sequence(s)
      AL157871
      Conserved Domains (1) summary
      pfam00153
      Location:123202
      Mito_carr; Mitochondrial carrier protein
    5. NM_001352821.2NP_001339750.1  mitochondrial basic amino acids transporter isoform 3

      Status: REVIEWED

      Source sequence(s)
      AL157871
      Conserved Domains (1) summary
      pfam00153
      Location:238321
      Mito_carr; Mitochondrial carrier protein
    6. NM_001352822.2NP_001339751.1  mitochondrial basic amino acids transporter isoform 2

      Status: REVIEWED

      Source sequence(s)
      AL157871
      Conserved Domains (1) summary
      pfam00153
      Location:123202
      Mito_carr; Mitochondrial carrier protein
    7. NM_001352823.2NP_001339752.1  mitochondrial basic amino acids transporter isoform 2

      Status: REVIEWED

      Source sequence(s)
      AL157871
      Conserved Domains (1) summary
      pfam00153
      Location:123202
      Mito_carr; Mitochondrial carrier protein
    8. NM_152333.4NP_689546.1  mitochondrial basic amino acids transporter isoform 2

      See identical proteins and their annotated locations for NP_689546.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks an internal exon that causes a frame-shift and results in the use of an in-frame downstream start codon compared to variant 1. The resulting isoform (2) has a shorter N-terminus compared to isoform 1. Variants 2-4 encode the same isoform.
      Source sequence(s)
      AK096294, BX247983, CF529947
      UniProtKB/Swiss-Prot
      Q8N8R3
      Related
      ENSP00000450913.1, ENST00000554912.1
      Conserved Domains (1) summary
      pfam00153
      Location:123202
      Mito_carr; Mitochondrial carrier protein

    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_000014.9 Reference GRCh38.p14 Primary Assembly

      Range
      100278567..100306444 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047430952.1XP_047286908.1  mitochondrial basic amino acids transporter isoform X5

    2. XM_006720039.5XP_006720102.1  mitochondrial basic amino acids transporter isoform X3

      Conserved Domains (1) summary
      pfam00153
      Location:224307
      Mito_carr; Mitochondrial carrier protein
    3. XM_047430946.1XP_047286902.1  mitochondrial basic amino acids transporter isoform X1

    4. XM_047430949.1XP_047286905.1  mitochondrial basic amino acids transporter isoform X4

    5. XM_047430959.1XP_047286915.1  mitochondrial basic amino acids transporter isoform X5

    6. XM_047430948.1XP_047286904.1  mitochondrial basic amino acids transporter isoform X2

    7. XM_047430947.1XP_047286903.1  mitochondrial basic amino acids transporter isoform X2

    8. XM_047430951.1XP_047286907.1  mitochondrial basic amino acids transporter isoform X5

    9. XM_047430962.1XP_047286918.1  mitochondrial basic amino acids transporter isoform X5

    10. XM_047430956.1XP_047286912.1  mitochondrial basic amino acids transporter isoform X5

    11. XM_047430950.1XP_047286906.1  mitochondrial basic amino acids transporter isoform X5

    12. XM_047430961.1XP_047286917.1  mitochondrial basic amino acids transporter isoform X5

    13. XM_047430958.1XP_047286914.1  mitochondrial basic amino acids transporter isoform X5

      Related
      ENSP00000452446.1, ENST00000556505.5
    14. XM_047430954.1XP_047286910.1  mitochondrial basic amino acids transporter isoform X5

    15. XM_047430960.1XP_047286916.1  mitochondrial basic amino acids transporter isoform X5

    16. XM_047430957.1XP_047286913.1  mitochondrial basic amino acids transporter isoform X5

    17. XM_047430953.1XP_047286909.1  mitochondrial basic amino acids transporter isoform X5

    RNA

    1. XR_007063984.1 RNA Sequence

    2. XR_007063981.1 RNA Sequence

    3. XR_007063983.1 RNA Sequence

    4. XR_007063982.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      94512311..94539478 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054375418.1XP_054231393.1  mitochondrial basic amino acids transporter isoform X5

    2. XM_054375413.1XP_054231388.1  mitochondrial basic amino acids transporter isoform X3

    3. XM_054375415.1XP_054231390.1  mitochondrial basic amino acids transporter isoform X5

    4. XM_054375410.1XP_054231385.1  mitochondrial basic amino acids transporter isoform X1

    5. XM_054375414.1XP_054231389.1  mitochondrial basic amino acids transporter isoform X4

    6. XM_054375424.1XP_054231399.1  mitochondrial basic amino acids transporter isoform X5

    7. XM_054375411.1XP_054231386.1  mitochondrial basic amino acids transporter isoform X2

    8. XM_054375417.1XP_054231392.1  mitochondrial basic amino acids transporter isoform X5

    9. XM_054375426.1XP_054231401.1  mitochondrial basic amino acids transporter isoform X5

    10. XM_054375423.1XP_054231398.1  mitochondrial basic amino acids transporter isoform X5

    11. XM_054375425.1XP_054231400.1  mitochondrial basic amino acids transporter isoform X5

    12. XM_054375422.1XP_054231397.1  mitochondrial basic amino acids transporter isoform X5

    13. XM_054375420.1XP_054231395.1  mitochondrial basic amino acids transporter isoform X5

    14. XM_054375419.1XP_054231394.1  mitochondrial basic amino acids transporter isoform X5

    15. XM_054375412.1XP_054231387.1  mitochondrial basic amino acids transporter isoform X2

    16. XM_054375427.1XP_054231402.1  mitochondrial basic amino acids transporter isoform X5

    17. XM_054375421.1XP_054231396.1  mitochondrial basic amino acids transporter isoform X5

    18. XM_054375416.1XP_054231391.1  mitochondrial basic amino acids transporter isoform X5

    RNA

    1. XR_008488822.1 RNA Sequence

    2. XR_008488819.1 RNA Sequence

    3. XR_008488821.1 RNA Sequence

    4. XR_008488820.1 RNA Sequence