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SLC25A36 solute carrier family 25 member 36 [ Homo sapiens (human) ]

Gene ID: 55186, updated on 1-Jun-2020

Summary

Official Symbol
SLC25A36provided by HGNC
Official Full Name
solute carrier family 25 member 36provided by HGNC
Primary source
HGNC:HGNC:25554
See related
Ensembl:ENSG00000114120 MIM:616149
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
PNC2
Expression
Ubiquitous expression in bone marrow (RPKM 19.4), endometrium (RPKM 15.5) and 24 other tissues See more
Orthologs

Genomic context

See SLC25A36 in Genome Data Viewer
Location:
3q23
Exon count:
8
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (140941836..140980995)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (140660662..140698785)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene tripartite motif containing 42 Neighboring gene ribosomal protein L23a pseudogene 41 Neighboring gene splA/ryanodine receptor domain and SOCS box containing 4 Neighboring gene 2-phosphoxylose phosphatase 1 Neighboring gene ribosomal protein L31 pseudogene 21

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?

Phenotypes

NHGRI GWAS Catalog

Description
Genome-wide association analysis of susceptibility and clinical phenotype in multiple sclerosis.
NHGRI GWA Catalog
Genome-wide association study of bipolar disorder accounting for effect of body mass index identifies a new risk allele in TCF7L2.
NHGRI GWA Catalog
Pilot genome-wide association search identifies potential loci for risk of erectile dysfunction in type 1 diabetes using the DCCT/EDIC study cohort.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ10618, DKFZp564C053

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP transmembrane transporter activity IEA
Inferred from Electronic Annotation
more info
 
pyrimidine nucleotide transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
pyrimidine nucleotide transmembrane transporter activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
ATP transport IEA
Inferred from Electronic Annotation
more info
 
mitochondrial genome maintenance IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrion organization IDA
Inferred from Direct Assay
more info
PubMed 
pyrimidine nucleotide import into mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
pyrimidine nucleotide transport IDA
Inferred from Direct Assay
more info
PubMed 
regulation of mitochondrial membrane potential 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 IEA
Inferred from Electronic Annotation
more info
 
mitochondrion IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
solute carrier family 25 member 36
Names
epididymis secretory sperm binding protein
solute carrier family 25 (pyrimidine nucleotide carrier ), member 36

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_001104647.3NP_001098117.1  solute carrier family 25 member 36 isoform a

    See identical proteins and their annotated locations for NP_001098117.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
    Source sequence(s)
    AC108727, AC132032
    Consensus CDS
    CCDS46927.1
    UniProtKB/Swiss-Prot
    Q96CQ1
    Related
    ENSP00000320688.6, ENST00000324194.12
    Conserved Domains (1) summary
    pfam00153
    Location:2113
    Mito_carr; Mitochondrial carrier protein
  2. NM_018155.3NP_060625.2  solute carrier family 25 member 36 isoform b

    See identical proteins and their annotated locations for NP_060625.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 3' coding region, compared to variant 1, resulting in a shorter protein (isoform b), compared to isoform a.
    Source sequence(s)
    AC108727, AC132032
    Consensus CDS
    CCDS3114.1
    UniProtKB/Swiss-Prot
    Q96CQ1
    Related
    ENSP00000401938.2, ENST00000446041.6
    Conserved Domains (2) summary
    PTZ00169
    Location:5289
    PTZ00169; ADP/ATP transporter on adenylate translocase; Provisional
    pfam00153
    Location:2113
    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_000003.12 Reference GRCh38.p13 Primary Assembly

    Range
    140941836..140980995
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005247575.5XP_005247632.1  solute carrier family 25 member 36 isoform X1

    Conserved Domains (1) summary
    pfam00153
    Location:22101
    Mito_carr; Mitochondrial carrier protein
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