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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
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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
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Research Materials
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