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    TMCC1 transmembrane and coiled-coil domain family 1 [ Homo sapiens (human) ]

    Gene ID: 23023, updated on 2-Nov-2024

    Summary

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    Official Symbol
    TMCC1provided by HGNC
    Official Full Name
    transmembrane and coiled-coil domain family 1provided by HGNC
    Primary source
    HGNC:HGNC:29116
    See related
    Ensembl:ENSG00000172765 MIM:616242; AllianceGenome:HGNC:29116
    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
    Enables identical protein binding activity. Involved in several processes, including endosome fission; endosome membrane tubulation; and membrane fission. Located in cytosol; endoplasmic reticulum-endosome membrane contact site; and rough endoplasmic reticulum. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in testis (RPKM 6.2), brain (RPKM 4.1) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TMCC1 in Genome Data Viewer
    Location:
    3q22.1
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (129647792..129893711, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (132392226..132637960, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (129366635..129612554, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124909431 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:129330613-129331535 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:129331536-129332457 Neighboring gene Sharpr-MPRA regulatory region 12201 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:129342361-129343136 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:129343789-129344398 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14728 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20518 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:129358807-129359416 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr3:129360029-129360638 Neighboring gene CARMIL2 pseudogene 1 Neighboring gene Sharpr-MPRA regulatory region 9069 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:129376963-129377790 Neighboring gene Sharpr-MPRA regulatory region 11052 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:129409826-129410443 Neighboring gene NANOG hESC enhancer GRCh37_chr3:129414696-129415307 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:129453832-129454332 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr3:129513146-129514345 Neighboring gene uncharacterized LOC124906340 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:129550881-129551035 Neighboring gene RNY3 pseudogene 13 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:129611136-129611928 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:129611929-129612720 Neighboring gene MPRA-validated peak4828 silencer Neighboring gene MPRA-validated peak4829 silencer Neighboring gene TMCC1 divergent transcript Neighboring gene collagen alpha-1(III) chain-like Neighboring gene thyrotropin releasing hormone

    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. roles of TMCC1 in ER organization
      Title: Transmembrane and coiled-coil domain family 1 is a novel protein of the endoplasmic reticulum.
    2. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    Submit: New GeneRIF Correction

    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ42680, DKFZp686M0169

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in endoplasmic reticulum organization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in endosomal transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in endosomal transport IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in endosome fission IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in endosome fission IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in endosome membrane tubulation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in endosome membrane tubulation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in membrane fission IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in membrane fission IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cytosol IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    is_active_in endomembrane system IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in endoplasmic reticulum membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in endoplasmic reticulum-endosome membrane contact site IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in rough endoplasmic reticulum IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    transmembrane and coiled-coil domains protein 1

    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_001017395.5 → NP_001017395.2  transmembrane and coiled-coil domains protein 1 isoform a

      See identical proteins and their annotated locations for NP_001017395.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (a). Variants 1 and 5-9 all encode the same isoform (a).
      Source sequence(s)
      AC023162, AC083799, AC117492, AL449209
      Consensus CDS
      CCDS33855.1
      UniProtKB/Swiss-Prot
      A8K5Y3, B4DE04, O94876, Q68E06, Q8IXM8
      Related
      ENSP00000376930.3, ENST00000393238.8
      Conserved Domains (1) summary
      pfam10267
      Location:231 → 638
      Tmemb_cc2; Predicted transmembrane and coiled-coil 2 protein

    2. NM_001128224.3 → NP_001121696.1  transmembrane and coiled-coil domains protein 1 isoform c

      See identical proteins and their annotated locations for NP_001121696.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3), as well as variants 10 and 11, encodes isoform c.
      Source sequence(s)
      AC023162, AC083799, AI609644, AL449209, BC039859, BM504779, CA389758
      UniProtKB/TrEMBL
      E9PC87
      Related
      ENSP00000389892.2, ENST00000426664.6
      Conserved Domains (1) summary
      pfam10267
      Location:117 → 524
      Tmemb_cc2; Predicted transmembrane and coiled-coil 2 protein

    3. NM_001349263.2 → NP_001336192.1  transmembrane and coiled-coil domains protein 1 isoform a

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) represents the longest transcript and encodes the longest isoform (a). Variants 1 and 5-9 all encode the same isoform (a).
      Source sequence(s)
      AC023162, AC083799, AC117492, AL449209
      Consensus CDS
      CCDS33855.1
      UniProtKB/Swiss-Prot
      A8K5Y3, B4DE04, O94876, Q68E06, Q8IXM8
      Conserved Domains (1) summary
      pfam10267
      Location:231 → 638
      Tmemb_cc2; Predicted transmembrane and coiled-coil 2 protein

    4. NM_001349264.2 → NP_001336193.1  transmembrane and coiled-coil domains protein 1 isoform a

      Status: VALIDATED

      Description
      Transcript Variant: This variant (6) encodes the longest isoform (a). Variants 1 and 5-9 all encode the same isoform (a).
      Source sequence(s)
      AC023162, AC083799, AC117492, AL449209
      Consensus CDS
      CCDS33855.1
      UniProtKB/Swiss-Prot
      A8K5Y3, B4DE04, O94876, Q68E06, Q8IXM8
      Conserved Domains (1) summary
      pfam10267
      Location:231 → 638
      Tmemb_cc2; Predicted transmembrane and coiled-coil 2 protein

    5. NM_001349265.2 → NP_001336194.1  transmembrane and coiled-coil domains protein 1 isoform a

      Status: VALIDATED

      Description
      Transcript Variant: This variant (7) encodes the longest isoform (a). Variants 1 and 5-9 all encode the same isoform (a).
      Source sequence(s)
      AC023162, AC083799, AC117492, AL449209
      Consensus CDS
      CCDS33855.1
      UniProtKB/Swiss-Prot
      A8K5Y3, B4DE04, O94876, Q68E06, Q8IXM8
      Conserved Domains (1) summary
      pfam10267
      Location:231 → 638
      Tmemb_cc2; Predicted transmembrane and coiled-coil 2 protein

    6. NM_001349266.2 → NP_001336195.1  transmembrane and coiled-coil domains protein 1 isoform a

      Status: VALIDATED

      Description
      Transcript Variant: This variant (8) encodes the longest isoform (a). Variants 1 and 5-9 all encode the same isoform (a).
      Source sequence(s)
      AC023162, AC083799, AC117492, AL449209
      Consensus CDS
      CCDS33855.1
      UniProtKB/Swiss-Prot
      A8K5Y3, B4DE04, O94876, Q68E06, Q8IXM8
      Conserved Domains (1) summary
      pfam10267
      Location:231 → 638
      Tmemb_cc2; Predicted transmembrane and coiled-coil 2 protein

    7. NM_001349268.2 → NP_001336197.1  transmembrane and coiled-coil domains protein 1 isoform a

      Status: VALIDATED

      Description
      Transcript Variant: This variant (9) encodes the longest isoform (a). Variants 1 and 5-9 all encode the same isoform (a).
      Source sequence(s)
      AC023162, AC083799, AC117492, AL449209
      Consensus CDS
      CCDS33855.1
      UniProtKB/Swiss-Prot
      A8K5Y3, B4DE04, O94876, Q68E06, Q8IXM8
      Conserved Domains (1) summary
      pfam10267
      Location:231 → 638
      Tmemb_cc2; Predicted transmembrane and coiled-coil 2 protein

    8. NM_001349269.2 → NP_001336198.1  transmembrane and coiled-coil domains protein 1 isoform c

      Status: VALIDATED

      Description
      Transcript Variant: This variant (10), as well as variants 3 and 11, encodes isoform c.
      Source sequence(s)
      AC023162, AC083799, AC117492, AL449209
      UniProtKB/TrEMBL
      E9PC87
      Related
      ENSP00000497993.1, ENST00000648771.1
      Conserved Domains (1) summary
      pfam10267
      Location:117 → 524
      Tmemb_cc2; Predicted transmembrane and coiled-coil 2 protein

    9. NM_001349270.2 → NP_001336199.1  transmembrane and coiled-coil domains protein 1 isoform c

      Status: VALIDATED

      Description
      Transcript Variant: This variant (11), as well as variants 3 and 10, encodes isoform c.
      Source sequence(s)
      AC023162, AC083799, AC117492, AL449209
      UniProtKB/TrEMBL
      E9PC87
      Conserved Domains (1) summary
      pfam10267
      Location:117 → 524
      Tmemb_cc2; Predicted transmembrane and coiled-coil 2 protein

    10. NM_001349271.2 → NP_001336200.1  transmembrane and coiled-coil domains protein 1 isoform d

      Status: VALIDATED

      Description
      Transcript Variant: This variant (12) encodes isoform d.
      Source sequence(s)
      AC023162, AC117492, AL449209
      Conserved Domains (1) summary
      pfam10267
      Location:107 → 514
      Tmemb_cc2; Predicted transmembrane and coiled-coil 2 protein

    11. NM_001349272.1 → NP_001336201.1  transmembrane and coiled-coil domains protein 1 isoform e

      Status: VALIDATED

      Description
      Transcript Variant: This variant (13) encodes isoform e.
      Source sequence(s)
      AC023162, AC083799, AC117492
      Conserved Domains (1) summary
      pfam10267
      Location:58 → 465
      Tmemb_cc2; Predicted transmembrane and coiled-coil 2 protein

    12. NM_001349273.2 → NP_001336202.1  transmembrane and coiled-coil domains protein 1 isoform f

      Status: VALIDATED

      Description
      Transcript Variant: This variant (14) encodes isoform f.
      Source sequence(s)
      AC023162, AC083799, AC117492
      Consensus CDS
      CCDS93383.1
      Related
      ENSP00000513609.1, ENST00000698215.1
      Conserved Domains (1) summary
      pfam10267
      Location:52 → 459
      Tmemb_cc2; Predicted transmembrane and coiled-coil 2 protein

    13. NM_001349274.2 → NP_001336203.1  transmembrane and coiled-coil domains protein 1 isoform g

      Status: VALIDATED

      Description
      Transcript Variant: This variant (15) encodes isoform g.
      Source sequence(s)
      AC023162, AC083799, AC117492
      Consensus CDS
      CCDS93382.1
      UniProtKB/TrEMBL
      A0A8V8TLJ9
      Related
      ENSP00000513608.1, ENST00000698214.1
      Conserved Domains (1) summary
      pfam10267
      Location:48 → 455
      Tmemb_cc2; Predicted transmembrane and coiled-coil 2 protein

    14. NM_001349275.2 → NP_001336204.1  transmembrane and coiled-coil domains protein 1 isoform h

      Status: VALIDATED

      Description
      Transcript Variant: This variant (16), as well as variant 17, encodes isoform h.
      Source sequence(s)
      AC023162, AC083799, AC117492, AL449209
      Conserved Domains (1) summary
      pfam10267
      Location:41 → 448
      Tmemb_cc2; Predicted transmembrane and coiled-coil 2 protein

    15. NM_001349276.2 → NP_001336205.1  transmembrane and coiled-coil domains protein 1 isoform h

      Status: VALIDATED

      Description
      Transcript Variant: This variant (17), as well as variant 16, encodes isoform h.
      Source sequence(s)
      AC023162, AC083799, AC117492, AL449209
      Conserved Domains (1) summary
      pfam10267
      Location:41 → 448
      Tmemb_cc2; Predicted transmembrane and coiled-coil 2 protein

    16. NM_015008.5 → NP_055823.1  transmembrane and coiled-coil domains protein 1 isoform b

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) encodes isoform b.
      Source sequence(s)
      AC023162, AC083799, AC117492
      UniProtKB/TrEMBL
      Q6N039
      Related
      ENSP00000404711.2, ENST00000432054.6
      Conserved Domains (1) summary
      pfam10267
      Location:1 → 314
      Tmemb_cc2; Predicted transmembrane and coiled-coil 2 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_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      129647792..129893711 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      132392226..132637960 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O94876.3 GenPept UniProtKB/Swiss-Prot:O94876

    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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