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

    Gene ID: 113444, updated on 27-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
    • 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)

    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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    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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