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    TMEM91 transmembrane protein 91 [ Homo sapiens (human) ]

    Gene ID: 641649, updated on 27-Nov-2024

    Summary

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    Official Symbol
    TMEM91provided by HGNC
    Official Full Name
    transmembrane protein 91provided by HGNC
    Primary source
    HGNC:HGNC:32393
    See related
    Ensembl:ENSG00000142046 MIM:618294; AllianceGenome:HGNC:32393
    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
    DSPC3; IFITMD6; SynDIG3
    Summary
    Predicted to act upstream of or within hematopoietic progenitor cell differentiation. Predicted to be active in intracellular membrane-bounded organelle and membrane. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in bone marrow (RPKM 6.3), testis (RPKM 5.0) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TMEM91 in Genome Data Viewer
    Location:
    19q13.2
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (41363947..41384083)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (44184527..44205320)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (41869852..41889988)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14674 Neighboring gene coiled-coil domain containing 97 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:41825837-41826574 Neighboring gene Sharpr-MPRA regulatory regions 2264 and 10656 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:41828472-41828958 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:41829057-41829826 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:41830597-41831366 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:41831367-41832136 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14675 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10658 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:41833547-41834068 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14676 Neighboring gene transforming growth factor beta 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14677 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10660 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10661 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10662 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10663 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10664 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:41860203-41860704 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14679 Neighboring gene B9 domain containing 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10665 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:41885758-41885931 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:41889835-41890334 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:41892254-41892432 Neighboring gene exosome component 5 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:41903234-41903906 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:41903907-41904578 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:41912476-41913430 Neighboring gene branched chain keto acid dehydrogenase E1 subunit alpha Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr19:41913431-41914386 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14681

    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. The dispanins: a novel gene family of ancient origin that contains 14 human members. Sällman Almén M, et al. PLoS One, 2012. PMID 22363774, Free PMC Article
    2. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. Bailey SD, et al. Diabetes Care, 2010 Oct. PMID 20628086, Free PMC Article
    3. Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip. Talmud PJ, et al. Am J Hum Genet, 2009 Nov. PMID 19913121, Free PMC Article
    4. RNA-binding activity of TRIM25 is mediated by its PRY/SPRY domain and is required for ubiquitination. Choudhury NR, et al. BMC Biol, 2017 Nov 8. PMID 29117863, Free PMC Article
    5. 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

    See all (10) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
      Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
    2. Observational study of gene-disease association. (HuGE Navigator)
      Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
    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 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

    Potential readthrough

    Included gene: BCKDHA

    Homology

    Clone Names

    • FLJ27310, FLJ45695

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables molecular_function ND
    No biological Data available
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in biological_process ND
    No biological Data available
    more info
    		  
    involved_in hematopoietic progenitor cell differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cellular_component ND
    No biological Data available
    more info
    		  
    is_active_in intracellular membrane-bounded organelle IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    transmembrane protein 91
    Names
    dispanin subfamily C member 3
    interferon induced transmembrane protein domain containing 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_001042595.3 → NP_001036060.1  transmembrane protein 91 isoform b

      See identical proteins and their annotated locations for NP_001036060.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and uses an alternate splice site in the 3' coding region compared to variant 1. The resulting protein (isoform b) is shorter and has a distinct C-terminus compared to isoform a. Variants 2 and 7 both encode the same isoform (b).
      Source sequence(s)
      AI214374, AI277187, BC063705, BG697182
      Consensus CDS
      CCDS42572.1
      UniProtKB/TrEMBL
      F8W6Q6
      Related
      ENSP00000348750.4, ENST00000356385.8
      Conserved Domains (1) summary
      pfam04505
      Location:92 → 120
      CD225; Interferon-induced transmembrane protein

    2. NM_001098821.2 → NP_001092291.1  transmembrane protein 91 isoform a

      See identical proteins and their annotated locations for NP_001092291.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest protein (isoform a).
      Source sequence(s)
      AI214374, AK130820, DA673235
      Consensus CDS
      CCDS42571.1
      UniProtKB/Swiss-Prot
      C9J9D1, C9JZ62, C9K046, Q6P434, Q6ZNR0
      Related
      ENSP00000375859.1, ENST00000392002.7
      Conserved Domains (1) summary
      pfam04505
      Location:92 → 157
      CD225; Interferon-induced transmembrane protein

    3. NM_001098822.2 → NP_001092292.1  transmembrane protein 91 isoform c

      See identical proteins and their annotated locations for NP_001092292.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) uses an alternate splice site in the 3' coding region compared to variant 1. The resulting protein (isoform c) is shorter and has a distinct C-terminus compared to isoform a. Variants 3, 6, and 8 all encode the same isoform (c).
      Source sequence(s)
      BX090160, DA673235, R67551
      Consensus CDS
      CCDS46082.1
      UniProtKB/TrEMBL
      F8W6Q6
      Related
      ENSP00000437779.1, ENST00000544232.5
      Conserved Domains (1) summary
      pfam04505
      Location:92 → 124
      CD225; Interferon-induced transmembrane protein

    4. NM_001098823.2 → NP_001092293.1  transmembrane protein 91 isoform d

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) uses an alternate splice site in the 3' coding region compared to variant 1. The resulting protein (isoform d) is shorter and has a distinct C-terminus compared to isoform a.
      Source sequence(s)
      AI214374, BF684543, DA673235
      Consensus CDS
      CCDS46083.1
      UniProtKB/TrEMBL
      F8W6Q6
      Related
      ENSP00000405647.2, ENST00000447302.6
      Conserved Domains (1) summary
      pfam04505
      Location:92 → 120
      CD225; Interferon-induced transmembrane protein

    5. NM_001098824.2 → NP_001092294.1  transmembrane protein 91 isoform e

      See identical proteins and their annotated locations for NP_001092294.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) uses an alternate splice site in the 3' coding region compared to variant 1. The resulting protein (isoform e) is shorter and has a distinct C-terminus compared to isoform a.
      Source sequence(s)
      BM675470, BM931402, DA673235
      Consensus CDS
      CCDS46084.1
      UniProtKB/TrEMBL
      F8W6Q6
      Related
      ENSP00000407003.2, ENST00000436170.6
      Conserved Domains (1) summary
      pfam04505
      Location:92 → 120
      CD225; Interferon-induced transmembrane protein

    6. NM_001098825.2 → NP_001092295.1  transmembrane protein 91 isoform c

      See identical proteins and their annotated locations for NP_001092295.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (6) differs in the 5' UTR and uses an alternate splice site in the 3' coding region compared to variant 1. The resulting protein (isoform c) is shorter and has a distinct C-terminus compared to isoform a. Variants 3, 6, and 8 all encode the same isoform (c).
      Source sequence(s)
      AC011462, AI214374, BM726200, R01772
      Consensus CDS
      CCDS46082.1
      UniProtKB/TrEMBL
      F8W6Q6
      Related
      ENSP00000413192.2, ENST00000413014.6
      Conserved Domains (1) summary
      pfam04505
      Location:92 → 124
      CD225; Interferon-induced transmembrane protein

    7. NM_001369862.1 → NP_001356791.1  transmembrane protein 91 isoform b

      Status: VALIDATED

      Description
      Transcript Variant: This variant (7), as well as variant 2, encodes isoform b.
      Source sequence(s)
      AC011462
      Consensus CDS
      CCDS42572.1
      UniProtKB/TrEMBL
      F8W6Q6
      Conserved Domains (1) summary
      pfam04505
      Location:92 → 120
      CD225; Interferon-induced transmembrane protein

    8. NM_001369864.1 → NP_001356793.1  transmembrane protein 91 isoform c

      Status: VALIDATED

      Description
      Transcript Variant: This variant (8), as well as variants 3 and 6, encodes isoform c.
      Source sequence(s)
      AC011462
      Consensus CDS
      CCDS46082.1
      UniProtKB/TrEMBL
      F8W6Q6
      Conserved Domains (1) summary
      pfam04505
      Location:92 → 124
      CD225; Interferon-induced transmembrane protein

    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_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      41363947..41384083
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      44184527..44205320
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6ZNR0.1 GenPept UniProtKB/Swiss-Prot:Q6ZNR0

    Gene LinkOut

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

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