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

Gene ID: 23023, updated on 12-Oct-2019

Summary

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
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
Expression
Ubiquitous expression in testis (RPKM 6.2), brain (RPKM 4.1) and 25 other tissues See more
Orthologs

Genomic context

See TMCC1 in Genome Data Viewer
Location:
3q22.1
Exon count:
17
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (129647792..129893711, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (129366635..129612419, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 12201 Neighboring gene Sharpr-MPRA regulatory region 14456 Neighboring gene Sharpr-MPRA regulatory region 11052 Neighboring gene RNY3 pseudogene 13 Neighboring gene TMCC1 antisense RNA 1 (head to head) Neighboring gene thyrotropin releasing hormone

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ42680, DKFZp686M0169

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein heterodimerization activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein homodimerization activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
Process Evidence Code Pubs
endoplasmic reticulum organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
endosomal transport IDA
Inferred from Direct Assay
more info
PubMed 
endosome membrane tubulation IDA
Inferred from Direct Assay
more info
PubMed 
membrane fission IDA
Inferred from Direct Assay
more info
PubMed 
protein heterooligomerization IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein homooligomerization IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
cytosol IMP
Inferred from Mutant Phenotype
more info
PubMed 
endoplasmic reticulum membrane IEA
Inferred from Electronic Annotation
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
rough endoplasmic reticulum IMP
Inferred from Mutant Phenotype
more info
PubMed 

General protein information

Preferred Names
transmembrane and coiled-coil domains protein 1

NCBI Reference Sequences (RefSeq)

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_001017395.5NP_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
    O94876
    Conserved Domains (2) summary
    pfam10267
    Location:234638
    Tmemb_cc2; Predicted transmembrane and coiled-coil 2 protein
    cl01294
    Location:93225
    Baseplate_J; Baseplate J-like protein
  2. NM_001128224.2NP_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, BC039859, BM504779, CA389758
    UniProtKB/Swiss-Prot
    O94876
    UniProtKB/TrEMBL
    E9PC87
    Related
    ENSP00000389892.2, ENST00000426664.6
    Conserved Domains (1) summary
    pfam10267
    Location:120524
    Tmemb_cc2; Predicted transmembrane and coiled-coil 2 protein
  3. NM_001349263.2NP_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
    Conserved Domains (2) summary
    pfam10267
    Location:234638
    Tmemb_cc2; Predicted transmembrane and coiled-coil 2 protein
    cl01294
    Location:93225
    Baseplate_J; Baseplate J-like protein
  4. NM_001349264.2NP_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
    Conserved Domains (2) summary
    pfam10267
    Location:234638
    Tmemb_cc2; Predicted transmembrane and coiled-coil 2 protein
    cl01294
    Location:93225
    Baseplate_J; Baseplate J-like protein
  5. NM_001349265.2NP_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
    Conserved Domains (2) summary
    pfam10267
    Location:234638
    Tmemb_cc2; Predicted transmembrane and coiled-coil 2 protein
    cl01294
    Location:93225
    Baseplate_J; Baseplate J-like protein
  6. NM_001349266.2NP_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
    Conserved Domains (2) summary
    pfam10267
    Location:234638
    Tmemb_cc2; Predicted transmembrane and coiled-coil 2 protein
    cl01294
    Location:93225
    Baseplate_J; Baseplate J-like protein
  7. NM_001349268.2NP_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
    Conserved Domains (2) summary
    pfam10267
    Location:234638
    Tmemb_cc2; Predicted transmembrane and coiled-coil 2 protein
    cl01294
    Location:93225
    Baseplate_J; Baseplate J-like protein
  8. NM_001349269.2NP_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
    Conserved Domains (1) summary
    pfam10267
    Location:120524
    Tmemb_cc2; Predicted transmembrane and coiled-coil 2 protein
  9. NM_001349270.2NP_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
    Conserved Domains (1) summary
    pfam10267
    Location:120524
    Tmemb_cc2; Predicted transmembrane and coiled-coil 2 protein
  10. NM_001349271.2NP_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:110514
    Tmemb_cc2; Predicted transmembrane and coiled-coil 2 protein
  11. NM_001349272.1NP_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:61465
    Tmemb_cc2; Predicted transmembrane and coiled-coil 2 protein
  12. NM_001349273.2NP_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
    Conserved Domains (1) summary
    pfam10267
    Location:55459
    Tmemb_cc2; Predicted transmembrane and coiled-coil 2 protein
  13. NM_001349274.2NP_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
    Conserved Domains (1) summary
    pfam10267
    Location:51455
    Tmemb_cc2; Predicted transmembrane and coiled-coil 2 protein
  14. NM_001349275.2NP_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:44448
    Tmemb_cc2; Predicted transmembrane and coiled-coil 2 protein
  15. NM_001349276.2NP_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:44448
    Tmemb_cc2; Predicted transmembrane and coiled-coil 2 protein
  16. NM_015008.5NP_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
    Related
    ENSP00000404711.2, ENST00000432054.6
    Conserved Domains (1) summary
    pfam10267
    Location:1314
    Tmemb_cc2; Predicted transmembrane and coiled-coil 2 protein

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20190905

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

  1. XM_017005933.1XP_016861422.1  transmembrane and coiled-coil domains protein 1 isoform X1

    UniProtKB/Swiss-Prot
    O94876
    Conserved Domains (2) summary
    pfam10267
    Location:234638
    Tmemb_cc2; Predicted transmembrane and coiled-coil 2 protein
    cl01294
    Location:93225
    Baseplate_J; Baseplate J-like protein
  2. XM_011512583.2XP_011510885.1  transmembrane and coiled-coil domains protein 1 isoform X3

    See identical proteins and their annotated locations for XP_011510885.1

    Conserved Domains (1) summary
    pfam10267
    Location:44448
    Tmemb_cc2; Predicted transmembrane and coiled-coil 2 protein
  3. XM_011512580.2XP_011510882.1  transmembrane and coiled-coil domains protein 1 isoform X2

    See identical proteins and their annotated locations for XP_011510882.1

    UniProtKB/TrEMBL
    E9PC87
    Conserved Domains (1) summary
    pfam10267
    Location:120524
    Tmemb_cc2; Predicted transmembrane and coiled-coil 2 protein
  4. XM_024453406.1XP_024309174.1  transmembrane and coiled-coil domains protein 1 isoform X2

    Conserved Domains (1) summary
    pfam10267
    Location:120524
    Tmemb_cc2; Predicted transmembrane and coiled-coil 2 protein
  5. XM_024453407.1XP_024309175.1  transmembrane and coiled-coil domains protein 1 isoform X3

    Conserved Domains (1) summary
    pfam10267
    Location:44448
    Tmemb_cc2; Predicted transmembrane and coiled-coil 2 protein
  6. XM_017005934.1XP_016861423.1  transmembrane and coiled-coil domains protein 1 isoform X2

    UniProtKB/TrEMBL
    E9PC87
    Related
    ENSP00000497993.1, ENST00000648771.1
    Conserved Domains (1) summary
    pfam10267
    Location:120524
    Tmemb_cc2; Predicted transmembrane and coiled-coil 2 protein
  7. XM_017005937.1XP_016861426.1  transmembrane and coiled-coil domains protein 1 isoform X2

    UniProtKB/TrEMBL
    E9PC87
    Conserved Domains (1) summary
    pfam10267
    Location:120524
    Tmemb_cc2; Predicted transmembrane and coiled-coil 2 protein
  8. XM_017005935.1XP_016861424.1  transmembrane and coiled-coil domains protein 1 isoform X2

    UniProtKB/TrEMBL
    E9PC87
    Conserved Domains (1) summary
    pfam10267
    Location:120524
    Tmemb_cc2; Predicted transmembrane and coiled-coil 2 protein
  9. XM_011512573.2XP_011510875.1  transmembrane and coiled-coil domains protein 1 isoform X1

    See identical proteins and their annotated locations for XP_011510875.1

    UniProtKB/Swiss-Prot
    O94876
    Conserved Domains (2) summary
    pfam10267
    Location:234638
    Tmemb_cc2; Predicted transmembrane and coiled-coil 2 protein
    cl01294
    Location:93225
    Baseplate_J; Baseplate J-like protein
  10. XM_006713544.1XP_006713607.1  transmembrane and coiled-coil domains protein 1 isoform X1

    See identical proteins and their annotated locations for XP_006713607.1

    UniProtKB/Swiss-Prot
    O94876
    Conserved Domains (2) summary
    pfam10267
    Location:234638
    Tmemb_cc2; Predicted transmembrane and coiled-coil 2 protein
    cl01294
    Location:93225
    Baseplate_J; Baseplate J-like protein
  11. XM_017005939.1XP_016861428.1  transmembrane and coiled-coil domains protein 1 isoform X2

    UniProtKB/TrEMBL
    E9PC87
    Conserved Domains (1) summary
    pfam10267
    Location:120524
    Tmemb_cc2; Predicted transmembrane and coiled-coil 2 protein
  12. XM_017005938.1XP_016861427.1  transmembrane and coiled-coil domains protein 1 isoform X2

    UniProtKB/TrEMBL
    E9PC87
    Conserved Domains (1) summary
    pfam10267
    Location:120524
    Tmemb_cc2; Predicted transmembrane and coiled-coil 2 protein
  13. XM_017005931.1XP_016861420.1  transmembrane and coiled-coil domains protein 1 isoform X1

    UniProtKB/Swiss-Prot
    O94876
    Related
    ENSP00000376930.3, ENST00000393238.7
    Conserved Domains (2) summary
    pfam10267
    Location:234638
    Tmemb_cc2; Predicted transmembrane and coiled-coil 2 protein
    cl01294
    Location:93225
    Baseplate_J; Baseplate J-like protein
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