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SMDT1 single-pass membrane protein with aspartate rich tail 1 [ Homo sapiens (human) ]

Gene ID: 91689, updated on 5-Aug-2018

Summary

Official Symbol
SMDT1provided by HGNC
Official Full Name
single-pass membrane protein with aspartate rich tail 1provided by HGNC
Primary source
HGNC:HGNC:25055
See related
Ensembl:ENSG00000183172 MIM:615588; Vega:OTTHUMG00000151286
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
DDDD; EMRE; C22orf32
Summary
This gene encodes a core regulatory component of a calcium channel in the mitochondrial inner membrane. [provided by RefSeq, Apr 2017]
Expression
Ubiquitous expression in ovary (RPKM 28.8), prostate (RPKM 18.9) and 25 other tissues See more
Orthologs

Genomic context

See SMDT1 in Genome Data Viewer
Location:
22q13.2
Exon count:
4
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 22 NC_000022.11 (42079691..42084284)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (42475695..42480288)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107985551 Neighboring gene alpha-N-acetylgalactosaminidase Neighboring gene small nucleolar RNA, C/D box 13 pseudogene 1 Neighboring gene PH domain containing endocytic trafficking adaptor 2 Neighboring gene NADH:ubiquinone oxidoreductase subunit A6 Neighboring gene NDUFA6 divergent transcript Neighboring gene Obg-like ATPase 1 pseudogene 1

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 Jun 15 11:32:44 2016

Bibliography

Phenotypes

NHGRI GWAS Catalog

Description
Biological insights from 108 schizophrenia-associated genetic loci.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
calcium import into the mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
calcium import into the mitochondrion IMP
Inferred from Mutant Phenotype
more info
PubMed 
mitochondrial calcium ion homeostasis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrial calcium ion homeostasis IMP
Inferred from Mutant Phenotype
more info
PubMed 
mitochondrial calcium ion transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrial calcium ion transmembrane transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
mitochondrial calcium ion transmembrane transport TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
integral component of mitochondrial inner membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
integral component of mitochondrial inner membrane IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrial inner membrane TAS
Traceable Author Statement
more info
 
mitochondrial matrix TAS
Traceable Author Statement
more info
 
mitochondrion IDA
Inferred from Direct Assay
more info
 
nucleus IDA
Inferred from Direct Assay
more info
 
uniplex complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
uniplex complex IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
essential MCU regulator, mitochondrial
Names
UPF0466 protein C22orf32, mitochondrial
single-pass membrane protein with aspartate-rich tail 1, mitochondrial

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_033318.4NP_201575.3  essential MCU regulator, mitochondrial precursor

    See identical proteins and their annotated locations for NP_201575.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the protein.
    Source sequence(s)
    AL021878, BC024237, BI754670, Z82192
    Consensus CDS
    CCDS14031.1
    UniProtKB/Swiss-Prot
    Q9H4I9
    Related
    ENSP00000327467.3, OTTHUMP00000199677, ENST00000331479.3, OTTHUMT00000322086
    Conserved Domains (1) summary
    pfam10161
    Location:36101
    DDDD; Putative mitochondrial precursor protein

RNA

  1. NR_146715.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate splice site in the 5' region and is represented as non-coding because use of the expected translational start codon would render the transcript a candidate for nonsense-mediated decay (NMD).
    Source sequence(s)
    AL021878, BC024237, BI754670
  2. NR_146717.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) contains an alternate 5' exon compared to variant 1. This variant is represented as non-coding because it lacks a large portion of the coding region found in variant 1.
    Source sequence(s)
    AL021878, Z82192

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000022.11 Reference GRCh38.p12 Primary Assembly

    Range
    42079691..42084284
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011530509.3XP_011528811.1  essential MCU regulator, mitochondrial isoform X1

    See identical proteins and their annotated locations for XP_011528811.1

    UniProtKB/Swiss-Prot
    Q9H4I9
    Conserved Domains (1) summary
    pfam10161
    Location:36101
    DDDD; Putative mitochondrial precursor protein

Reference GRCh38.p12 ALT_REF_LOCI_1

Genomic

  1. NW_003315971.2 Reference GRCh38.p12 ALT_REF_LOCI_1

    Range
    2036..6629
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p12 ALT_REF_LOCI_2

Genomic

  1. NW_004504305.1 Reference GRCh38.p12 ALT_REF_LOCI_2

    Range
    2036..6629
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p12 ALT_REF_LOCI_3

Genomic

  1. NT_187682.1 Reference GRCh38.p12 ALT_REF_LOCI_3

    Range
    2036..6629
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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