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    SMIM14 small integral membrane protein 14 [ Homo sapiens (human) ]

    Gene ID: 201895, updated on 2-Nov-2024

    Summary

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    Official Symbol
    SMIM14provided by HGNC
    Official Full Name
    small integral membrane protein 14provided by HGNC
    Primary source
    HGNC:HGNC:27321
    See related
    Ensembl:ENSG00000163683 AllianceGenome:HGNC:27321
    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
    C4orf34
    Summary
    Predicted to act upstream of or within blastocyst hatching. Located in endoplasmic reticulum. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in liver (RPKM 32.9), colon (RPKM 23.2) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See SMIM14 in Genome Data Viewer
    Location:
    4p14
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (39546336..39638865, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (39516003..39608640, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (39547956..39640485, complement)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene WD repeat domain 5C, pseudogene Neighboring gene HNF1 and NFE2L2 motif-containing MPRA enhancers 6 and 8 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15369 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15370 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21460 Neighboring gene UDP-glucose 6-dehydrogenase Neighboring gene UGDH antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21461 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21462 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21463 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21464 Neighboring gene RNA, U7 small nuclear 11 pseudogene Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:39640427-39641144 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr4:39642916-39643511 Neighboring gene SMIM14 divergent transcript Neighboring gene MPRA-validated peak5027 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21465 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15371 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21466 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21467 Neighboring gene ubiquitin conjugating enzyme E2 K Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21468 Neighboring gene RNA, 7SL, cytoplasmic 558, 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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    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. hC4orf34 is an endoplasmic reticulum-resident type I transmembrane protein.
      Title: Characterization of the cellular localization of C4orf34 as a novel endoplasmic reticulum resident protein.
    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 Variation Viewer (GRCh37.p13)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ13289

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in blastocyst hatching IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in endoplasmic reticulum IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in endoplasmic reticulum membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    small integral membrane protein 14

    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_001317896.2 → NP_001304825.1  small integral membrane protein 14

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript. Variants 1, 2, and 3 encode the same protein.
      Source sequence(s)
      AA480975, AC021148, BC008502, BE615527, HY004916, HY155982
      Consensus CDS
      CCDS3456.1
      UniProtKB/Swiss-Prot
      Q96QK8
      UniProtKB/TrEMBL
      D6R9U3
      Related
      ENSP00000422904.1, ENST00000505729.1
      Conserved Domains (1) summary
      pfam11027
      Location:3 → 97
      DUF2615; Protein of unknown function (DUF2615)

    2. NM_001317897.2 → NP_001304826.1  small integral membrane protein 14

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1, 2, and 3 encode the same protein.
      Source sequence(s)
      AA480975, AC021148, AC108471, BC008502, BE615527, BQ049060
      Consensus CDS
      CCDS3456.1
      UniProtKB/Swiss-Prot
      Q96QK8
      UniProtKB/TrEMBL
      D6R9U3
      Conserved Domains (1) summary
      pfam11027
      Location:3 → 97
      DUF2615; Protein of unknown function (DUF2615)

    3. NM_174921.3 → NP_777581.1  small integral membrane protein 14

      See identical proteins and their annotated locations for NP_777581.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate exon in the 5' UTR compared to variant 1. Variants 1, 2, and 3 encode the same protein.
      Source sequence(s)
      AA480975, AC021148, BC008502, BE615527, HY155982
      Consensus CDS
      CCDS3456.1
      UniProtKB/Swiss-Prot
      Q96QK8
      UniProtKB/TrEMBL
      D6R9U3
      Related
      ENSP00000295958.4, ENST00000295958.10
      Conserved Domains (1) summary
      pfam11027
      Location:3 → 97
      DUF2615; Protein of unknown function (DUF2615)

    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_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      39546336..39638865 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047449746.1 → XP_047305702.1  small integral membrane protein 14 isoform X2

      UniProtKB/Swiss-Prot
      Q96QK8

    2. XM_047449743.1 → XP_047305699.1  small integral membrane protein 14 isoform X1

    3. XM_047449744.1 → XP_047305700.1  small integral membrane protein 14 isoform X2

      UniProtKB/Swiss-Prot
      Q96QK8

    4. XM_047449745.1 → XP_047305701.1  small integral membrane protein 14 isoform X2

      UniProtKB/Swiss-Prot
      Q96QK8

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      39516003..39608640 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054349163.1 → XP_054205138.1  small integral membrane protein 14 isoform X1

    2. XM_054349165.1 → XP_054205140.1  small integral membrane protein 14 isoform X2

      UniProtKB/Swiss-Prot
      Q96QK8

    3. XM_054349164.1 → XP_054205139.1  small integral membrane protein 14 isoform X2

      UniProtKB/Swiss-Prot
      Q96QK8
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96QK8.1 GenPept UniProtKB/Swiss-Prot:Q96QK8

    Gene LinkOut

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

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