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    TMEM191C transmembrane protein 191C [ Homo sapiens (human) ]

    Gene ID: 645426, updated on 5-Mar-2024

    Summary

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    Official Symbol
    TMEM191Cprovided by HGNC
    Official Full Name
    transmembrane protein 191Cprovided by HGNC
    Primary source
    HGNC:HGNC:33601
    See related
    Ensembl:ENSG00000206140 AllianceGenome:HGNC:33601
    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
    Summary
    Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Biased expression in testis (RPKM 17.3), spleen (RPKM 1.4) and 2 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TMEM191C in Genome Data Viewer
    Location:
    22q11.21
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (21467387..21469935)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (21878432..21880964, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (21821676..21824224)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:21775892-21776710 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:21777861-21778422 Neighboring gene HIC ZBTB transcriptional repressor 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:21791131-21791666 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:21791667-21792203 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:21803655-21804208 Neighboring gene transmembrane protein 191A pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:21822768-21823330 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:21823331-21823893 Neighboring gene phosphatidylinositol 4-kinase alpha pseudogene 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:21844103-21844908 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:21845788-21846695 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:21846696-21847602 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:21847603-21848509 Neighboring gene MPRA-validated peak4465 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:21853495-21854090 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:21864487-21865084 Neighboring gene uncharacterized LOC124905165

    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. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. Kimura K, et al. Genome Res, 2006 Jan. PMID 16344560, Free PMC Article
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. Ota T, et al. Nat Genet, 2004 Jan. PMID 14702039

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    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

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ36990, AC023490.1

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    transmembrane protein 191C
    Names
    KB-1323B2.6

    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_001207052.2 → NP_001193981.2  transmembrane protein 191C isoform 2

      Status: VALIDATED

      Source sequence(s)
      AP000557
      Consensus CDS
      CCDS82695.2
      UniProtKB/TrEMBL
      A0A1B0GV61
      Related
      ENSP00000489706.2, ENST00000621561.5
      Conserved Domains (1) summary
      pfam15194
      Location:196 → 300
      TMEM191C; TMEM191C family

    2. NM_001388354.1 → NP_001375283.1  transmembrane protein 191C isoform 1

      Status: VALIDATED

      Source sequence(s)
      AP000557
      Consensus CDS
      CCDS93125.1
      UniProtKB/Swiss-Prot
      A0A1B0GW53, A6NGB0
      UniProtKB/TrEMBL
      A0A1B0GV61
      Related
      ENSP00000490781.2, ENST00000536718.3
      Conserved Domains (2) summary
      TIGR02168
      Location:1 → 222
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      pfam15194
      Location:182 → 302
      TMEM191C; TMEM191C family

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000022.11 Reference GRCh38.p14 Primary Assembly

      Range
      21467387..21469935
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060946.1 Alternate T2T-CHM13v2.0

      Range
      21878432..21880964 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    RNA

    1. XR_008485407.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A6NGB0.3 GenPept UniProtKB/Swiss-Prot:A6NGB0

    Gene LinkOut

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

    Chemical Information
    Molecular Biology Databases
    Research Materials