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

Gene ID: 23023, updated on 28-Oct-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, Oct 2024]
Expression
Ubiquitous expression in testis (RPKM 6.2), brain (RPKM 4.1) and 25 other tissues See more
Orthologs
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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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Related articles in PubMed

  1. A Novel Class of ER Membrane Proteins Regulates ER-Associated Endosome Fission. Hoyer MJ, et al. Cell, 2018 Sep 20. PMID 30220460, Free PMC Article
  2. Transmembrane and coiled-coil domain family 1 is a novel protein of the endoplasmic reticulum. Zhang C, et al. PLoS One, 2014. PMID 24454821, Free PMC Article
  3. Prediction of the coding sequences of unidentified human genes. XI. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. Nagase T, et al. DNA Res, 1998 Oct 30. PMID 9872452
  4. Expressed sequence tag analysis of human RPE/choroid for the NEIBank Project: over 6000 non-redundant transcripts, novel genes and splice variants. Wistow G, et al. Mol Vis, 2002 Jun 15. PMID 12107410
  5. The palmitoyl acyltransferase HIP14 shares a high proportion of interactors with huntingtin: implications for a role in the pathogenesis of Huntington's disease. Butland SL, et al. Hum Mol Genet, 2014 Aug 1. PMID 24705354, Free PMC Article

See all (27) citations in PubMed

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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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)

Genotypes

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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