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    SLC25A35 solute carrier family 25 member 35 [ Homo sapiens (human) ]

    Gene ID: 399512, updated on 28-Oct-2024

    Summary

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    Official Symbol
    SLC25A35provided by HGNC
    Official Full Name
    solute carrier family 25 member 35provided by HGNC
    Primary source
    HGNC:HGNC:31921
    See related
    Ensembl:ENSG00000125434 MIM:610818; AllianceGenome:HGNC:31921
    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
    Summary
    SLC25A35 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 9.0), endometrium (RPKM 4.9) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See SLC25A35 in Genome Data Viewer
    Location:
    17p13.1
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (8287763..8295400, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (8194005..8201639, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (8191081..8198718, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene tRNA-Ile (anticodon AAT) 4-1 Neighboring gene CST telomere replication complex component 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11690 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8178 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11691 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:8152035-8152791 Neighboring gene phosphoribosylformylglycinamidine synthase Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:8187618-8188118 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:8188119-8188619 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11692 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11693 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8179 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11694 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11695 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11696 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11697 Neighboring gene RAN guanine nucleotide release factor Neighboring gene uncharacterized LOC124903915 Neighboring gene uncharacterized LOC124903914 Neighboring gene CRISPRi-validated cis-regulatory element chr17.641 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:8213553-8214053 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:8216427-8216928 Neighboring gene Rho guanine nucleotide exchange factor 15

    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. 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. The mitochondrial transporter family SLC25: identification, properties and physiopathology. Palmieri F. Mol Aspects Med, 2013 Apr-Jun. PMID 23266187
    3. A germline-specific class of small RNAs binds mammalian Piwi proteins. Girard A, et al. Nature, 2006 Jul 13. PMID 16751776
    4. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. Hendrickson SL, et al. PLoS One, 2010 Sep 21. PMID 20877624, Free PMC Article
    5. Quantitative high-confidence human mitochondrial proteome and its dynamics in cellular context. Morgenstern M, et al. Cell Metab, 2021 Dec 7. PMID 34800366, Free PMC Article

    See all (12) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Compares and contrasts all the known human SLC25A* genes and includes functional information.
      Title: The mitochondrial transporter family SLC25: identification, properties and physiopathology.
    2. 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

    • FLJ40217, MGC120446, MGC120448

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in mitochondrial inner membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in mitochondrion HTP PubMed 

    General protein information

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    Preferred Names
    solute carrier family 25 member 35

    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_001320870.2 → NP_001307799.1  solute carrier family 25 member 35 isoform a

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (a).
      Source sequence(s)
      AC135178, BC041597, BC105995, BM987725
      Consensus CDS
      CCDS82067.1
      UniProtKB/Swiss-Prot
      Q3KQZ1, Q494X5, Q6RGS3, Q8N7Y5
      Related
      ENSP00000464231.1, ENST00000577745.2
      Conserved Domains (1) summary
      pfam00153
      Location:209 → 298
      Mito_carr; Mitochondrial carrier protein

    2. NM_001320871.2 → NP_001307800.1  solute carrier family 25 member 35 isoform b

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 3' structure compared to variant 1. The encoded isoform (b) has a distinct C-terminus, and is shorter than isofom a. Variants 2 through 4 encodes the same isoform.
      Source sequence(s)
      AC135178, BC052233
      Consensus CDS
      CCDS11138.1
      UniProtKB/Swiss-Prot
      Q3KQZ1
      Related
      ENSP00000462395.1, ENST00000579192.5
      Conserved Domains (2) summary
      pfam00153
      Location:2 → 84
      Mito_carr; Mitochondrial carrier protein
      cl28162
      Location:119 → 194
      Mito_carr; Mitochondrial carrier protein

    3. NM_001320872.2 → NP_001307801.1  solute carrier family 25 member 35 isoform b

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) differs in the 3' structure compared to variant 1. The encoded isoform (b) has a distinct C-terminus, and is shorter than isofom a. Variants 2 through 4 encodes the same isoform.
      Source sequence(s)
      AC135178, BC052233, BC101329, BC101330
      Consensus CDS
      CCDS11138.1
      UniProtKB/Swiss-Prot
      Q3KQZ1
      Related
      ENSP00000464071.1, ENST00000580340.5
      Conserved Domains (2) summary
      pfam00153
      Location:2 → 84
      Mito_carr; Mitochondrial carrier protein
      cl28162
      Location:119 → 194
      Mito_carr; Mitochondrial carrier protein

    4. NM_001320877.2 → NP_001307806.1  solute carrier family 25 member 35 isoform c

      Status: VALIDATED

      Description
      Transcript Variant: This variant (7) lacks an alternate in-frame exon in the 5' coding region, compared to variant 1. The encoded isoform (c) is shorter than isoform a
      Source sequence(s)
      AC135178
      Conserved Domains (1) summary
      pfam00153
      Location:187 → 276
      Mito_carr; Mitochondrial carrier protein

    5. NM_201520.3 → NP_958928.1  solute carrier family 25 member 35 isoform b

      See identical proteins and their annotated locations for NP_958928.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 3' structure compared to variant 1. The encoded isoform (b) has a distinct C-terminus, and is shorter than isofom a. Variants 2 through 4 encodes the same isoform.
      Source sequence(s)
      AC135178, AK097536, BC041597
      Consensus CDS
      CCDS11138.1
      UniProtKB/Swiss-Prot
      Q3KQZ1
      Related
      ENSP00000369407.2, ENST00000380067.6
      Conserved Domains (2) summary
      pfam00153
      Location:2 → 84
      Mito_carr; Mitochondrial carrier protein
      cl28162
      Location:119 → 194
      Mito_carr; Mitochondrial carrier protein

    RNA

    1. NR_135483.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (6) differs in the 3' structure compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC135178, AY498866, BC052233, BC101330

    2. NR_135484.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) differs in the 3' structure compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC135178, BC052233, BC101330

    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_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      8287763..8295400 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047436000.1 → XP_047291956.1  solute carrier family 25 member 35 isoform X2

      Related
      ENSP00000464307.1, ENST00000579681.5

    2. XM_047435999.1 → XP_047291955.1  solute carrier family 25 member 35 isoform X1

      Related
      ENSP00000464191.1, ENST00000585311.5

    3. XM_005256641.4 → XP_005256698.1  solute carrier family 25 member 35 isoform X3

      Conserved Domains (1) summary
      pfam00153
      Location:2 → 84
      Mito_carr; Mitochondrial carrier protein

    4. XM_047436001.1 → XP_047291957.1  solute carrier family 25 member 35 isoform X4

    RNA

    1. XR_007065297.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      8194005..8201639 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054316089.1 → XP_054172064.1  solute carrier family 25 member 35 isoform X2

    2. XM_054316088.1 → XP_054172063.1  solute carrier family 25 member 35 isoform X1

    3. XM_054316090.1 → XP_054172065.1  solute carrier family 25 member 35 isoform X3

    4. XM_054316091.1 → XP_054172066.1  solute carrier family 25 member 35 isoform X4

    RNA

    1. XR_008484818.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q3KQZ1.1 GenPept UniProtKB/Swiss-Prot:Q3KQZ1

    Gene LinkOut

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