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SMIM12 small integral membrane protein 12 [ Homo sapiens (human) ]

Gene ID: 113444, updated on 2-Nov-2024

Summary

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Official Symbol
SMIM12provided by HGNC
Official Full Name
small integral membrane protein 12provided by HGNC
Primary source
HGNC:HGNC:25154
See related
Ensembl:ENSG00000163866 AllianceGenome:HGNC:25154
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
C1orf212
Summary
Located in mitochondrion. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Ubiquitous expression in adrenal (RPKM 3.5), kidney (RPKM 3.1) and 25 other tissues See more
Orthologs
mouse all
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Genomic context

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See SMIM12 in Genome Data Viewer
Location:
1p34.3
Exon count:
5
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (34850362..34859749, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (34712985..34722442, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (35315963..35325350, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene ReSE screen-validated silencer GRCh37_chr1:35252149-35252354 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:35252567-35252767 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 627 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:35257658-35258158 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:35259863-35260017 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 716 Neighboring gene gap junction protein beta 3 Neighboring gene gap junction protein alpha 4 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:35307996-35308683 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:35312807-35313492 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 717 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:35319252-35320122 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 628 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 629 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 718 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 719 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 720 Neighboring gene DLG associated protein 3 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:35350327-35351322 Neighboring gene MPRA-validated peak171 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 631 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 632 Neighboring gene G protein-coupled receptor 199, pseudogene

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. Quantitative Proteomics Links the LRRC59 Interactome to mRNA Translation on the ER Membrane. Hannigan MM, et al. Mol Cell Proteomics, 2020 Nov. PMID 32788342, Free PMC Article
  2. Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries. Otsuki T, et al. DNA Res, 2005. PMID 16303743
  3. Global Interactome Mapping of Mitochondrial Intermembrane Space Proteases Identifies a Novel Function for HTRA2. Botham A, et al. Proteomics, 2019 Dec. PMID 31617661
  4. Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions. Suzuki Y, et al. Genome Res, 2004 Sep. PMID 15342556, Free PMC Article
  5. In-Depth In Vivo Crosslinking in Minutes by a Compact, Membrane-Permeable, and Alkynyl-Enrichable Crosslinker. Gao H, et al. Anal Chem, 2022 May 31. PMID 35575683

See all (17) citations in PubMed

GeneRIFs: Gene References Into Functions

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

  • FLJ90372, MGC138436

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 membrane IEA
Inferred from Electronic Annotation
more info
  
located_in mitochondrion HTP PubMed 

General protein information

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Preferred Names
small integral membrane protein 12
Names
UPF0767 protein C1orf212
alternative protein C1orf212

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_001164824.2 → NP_001158296.1  small integral membrane protein 12

    See identical proteins and their annotated locations for NP_001158296.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript. Variants 1, 2, 3 and 4 encode the same protein.
    Source sequence(s)
    AI467795, AL122010, BG702416
    Consensus CDS
    CCDS53295.1
    UniProtKB/Swiss-Prot
    D3DPR5, Q49AP7, Q52LP9, Q8NCB4, Q96EX1
    UniProtKB/TrEMBL
    L0R6D7
    Related
    ENSP00000428541.1, ENST00000417239.1
    Conserved Domains (1) summary
    pfam15990
    Location:1 → 87
    UPF0767; UPF0767 family

  2. NM_001164825.2 → NP_001158297.1  small integral membrane protein 12

    See identical proteins and their annotated locations for NP_001158297.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2, 3 and 4 encode the same protein.
    Source sequence(s)
    AI467795, AL122010, BP234122
    Consensus CDS
    CCDS53295.1
    UniProtKB/Swiss-Prot
    D3DPR5, Q49AP7, Q52LP9, Q8NCB4, Q96EX1
    UniProtKB/TrEMBL
    L0R6D7
    Related
    ENSP00000428984.1, ENST00000423898.1
    Conserved Domains (1) summary
    pfam15990
    Location:1 → 87
    UPF0767; UPF0767 family

  3. NM_001320261.2 → NP_001307190.1  small integral membrane protein 12

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 1. Variants 1, 2, 3 and 4 encode the same protein.
    Source sequence(s)
    AI467795, AK074853, AL122010, BI759434, HY071448
    Consensus CDS
    CCDS53295.1
    UniProtKB/Swiss-Prot
    D3DPR5, Q49AP7, Q52LP9, Q8NCB4, Q96EX1
    UniProtKB/TrEMBL
    L0R6D7
    Related
    ENSP00000430198.1, ENST00000456842.1
    Conserved Domains (1) summary
    pfam15990
    Location:1 → 87
    UPF0767; UPF0767 family

  4. NM_138428.6 → NP_612437.3  small integral membrane protein 12

    See identical proteins and their annotated locations for NP_612437.3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1, 2, 3 and 4 encode the same protein.
    Source sequence(s)
    AI467795, AL122010, BC064320
    Consensus CDS
    CCDS53295.1
    UniProtKB/Swiss-Prot
    D3DPR5, Q49AP7, Q52LP9, Q8NCB4, Q96EX1
    UniProtKB/TrEMBL
    L0R6D7
    Related
    ENSP00000428585.1, ENST00000521580.3
    Conserved Domains (1) summary
    pfam15990
    Location:1 → 87
    UPF0767; UPF0767 family

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_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    34850362..34859749 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011540553.3 → XP_011538855.2  small integral membrane protein 12 isoform X2

  2. XM_011540554.4 → XP_011538856.2  small integral membrane protein 12 isoform X1

  3. XM_005270403.5 → XP_005270460.1  small integral membrane protein 12 isoform X3

    See identical proteins and their annotated locations for XP_005270460.1

    UniProtKB/Swiss-Prot
    D3DPR5, Q49AP7, Q52LP9, Q8NCB4, Q96EX1
    UniProtKB/TrEMBL
    L0R6D7
    Related
    ENSP00000430285.1, ENST00000446026.1
    Conserved Domains (1) summary
    pfam15990
    Location:1 → 87
    UPF0767; UPF0767 family

  4. XM_011540555.4 → XP_011538857.1  small integral membrane protein 12 isoform X3

    See identical proteins and their annotated locations for XP_011538857.1

    UniProtKB/Swiss-Prot
    D3DPR5, Q49AP7, Q52LP9, Q8NCB4, Q96EX1
    UniProtKB/TrEMBL
    L0R6D7
    Conserved Domains (1) summary
    pfam15990
    Location:1 → 87
    UPF0767; UPF0767 family

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    34712985..34722442 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054334050.1 → XP_054190025.1  small integral membrane protein 12 isoform X2

  2. XM_054334049.1 → XP_054190024.1  small integral membrane protein 12 isoform X1

  3. XM_054334051.1 → XP_054190026.1  small integral membrane protein 12 isoform X3

    UniProtKB/Swiss-Prot
    D3DPR5, Q49AP7, Q52LP9, Q8NCB4, Q96EX1
    UniProtKB/TrEMBL
    L0R6D7

  4. XM_054334052.1 → XP_054190027.1  small integral membrane protein 12 isoform X3

    UniProtKB/Swiss-Prot
    D3DPR5, Q49AP7, Q52LP9, Q8NCB4, Q96EX1
    UniProtKB/TrEMBL
    L0R6D7
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q96EX1.3 GenPept UniProtKB/Swiss-Prot:Q96EX1

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