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

Gene ID: 123096, updated on 1-Jun-2020

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
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

Genomic context

See SLC25A29 in Genome Data Viewer
Location:
14q32.2
Exon count:
10
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 14 NC_000014.9 (100277986..100306536, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (100745514..100772884, complement)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene Enah/Vasp-like Neighboring gene delta 4-desaturase, sphingolipid 2 Neighboring gene YY1 transcription factor Neighboring gene microRNA 6764 Neighboring gene RNA, 7SL, cytoplasmic 523, pseudogene Neighboring gene microRNA 345

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

Homology

Clone Names

  • FLJ38975, AL157871.2

Gene Ontology Provided by GOA

Process Evidence Code Pubs
ATP transport IEA
Inferred from Electronic Annotation
more info
 
L-arginine transmembrane transport IDA
Inferred from Direct Assay
more info
PubMed 
L-histidine transmembrane transport IDA
Inferred from Direct Assay
more info
PubMed 
L-lysine transmembrane transport IDA
Inferred from Direct Assay
more info
PubMed 
NOT acyl carnitine transmembrane transport IDA
Inferred from Direct Assay
more info
PubMed 
acyl carnitine transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
amino acid transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
amino acid transport TAS
Traceable Author Statement
more info
 
NOT carnitine transport IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrial L-ornithine transmembrane transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
ornithine transport IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
mitochondrial inner membrane TAS
Traceable Author Statement
more info
 
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)

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
    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:119202
    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:119202
    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:119202
    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
    Related
    ENSP00000452446.1, ENST00000556505.5
    Conserved Domains (1) summary
    pfam00153
    Location:119202
    Mito_carr; Mitochondrial carrier protein
  7. NM_001352823.2NP_001339752.1  mitochondrial basic amino acids transporter isoform 2

    Status: REVIEWED

    Source sequence(s)
    AL157871
    Related
    ENSP00000452078.1, ENST00000555927.5
    Conserved Domains (1) summary
    pfam00153
    Location:119202
    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:119202
    Mito_carr; Mitochondrial carrier protein

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p13 Primary Assembly

    Range
    100277986..100306536 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011536448.2XP_011534750.1  mitochondrial basic amino acids transporter isoform X4

    See identical proteins and their annotated locations for XP_011534750.1

    UniProtKB/Swiss-Prot
    Q8N8R3
    Conserved Domains (1) summary
    pfam00153
    Location:119202
    Mito_carr; Mitochondrial carrier protein
  2. XM_011536447.2XP_011534749.1  mitochondrial basic amino acids transporter isoform X4

    See identical proteins and their annotated locations for XP_011534749.1

    UniProtKB/Swiss-Prot
    Q8N8R3
    Conserved Domains (1) summary
    pfam00153
    Location:119202
    Mito_carr; Mitochondrial carrier protein
  3. XM_006720039.4XP_006720102.1  mitochondrial basic amino acids transporter isoform X2

    Conserved Domains (1) summary
    pfam00153
    Location:224307
    Mito_carr; Mitochondrial carrier protein
  4. XM_024449479.1XP_024305247.1  mitochondrial basic amino acids transporter isoform X3

    Conserved Domains (1) summary
    pfam00153
    Location:179262
    Mito_carr; Mitochondrial carrier protein
  5. XM_006720038.2XP_006720101.1  mitochondrial basic amino acids transporter isoform X1

    Conserved Domains (1) summary
    pfam00153
    Location:232315
    Mito_carr; Mitochondrial carrier protein
  6. XM_017020988.1XP_016876477.1  mitochondrial basic amino acids transporter isoform X5

RNA

  1. XR_001750155.1 RNA Sequence

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