Human Gene DMAC1 (ENST00000358227.5_7) from GENCODE V47lift37
  Description: distal membrane arm assembly component 1, transcript variant 2 (from RefSeq NM_033428.3)
Gencode Transcript: ENST00000358227.5_7
Gencode Gene: ENSG00000137038.8_14
Transcript (Including UTRs)
   Position: hg19 chr9:7,796,500-7,799,778 Size: 3,279 Total Exon Count: 2 Strand: -
Coding Region
   Position: hg19 chr9:7,798,573-7,799,734 Size: 1,162 Coding Exon Count: 2 

Page IndexSequence and LinksUniProtKB CommentsPrimersGene AllelesRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
Other NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr9:7,796,500-7,799,778)mRNA (may differ from genome)Protein (112 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsMGI
OMIMPubMedUniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: CI123_HUMAN
DESCRIPTION: RecName: Full=Transmembrane protein C9orf123;
SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein (Potential).

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 14.61 RPKM in Heart - Atrial Appendage
Total median expression: 512.54 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -6.5044-0.148 Picture PostScript Text
3' UTR -528.202073-0.255 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  Pfam Domains:
PF15055 - Domain of unknown function (DUF4536)

ModBase Predicted Comparative 3D Structure on Q96GE9
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGDEnsembl   
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Biological Process:
GO:0032981 mitochondrial respiratory chain complex I assembly

Cellular Component:
GO:0005739 mitochondrion
GO:0005743 mitochondrial inner membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0005747 mitochondrial respiratory chain complex I


-  Descriptions from all associated GenBank mRNAs
  AL137489 - Homo sapiens mRNA; cDNA DKFZp434O1230 (from clone DKFZp434O1230).
JD260113 - Sequence 241137 from Patent EP1572962.
JD300224 - Sequence 281248 from Patent EP1572962.
JD454248 - Sequence 435272 from Patent EP1572962.
JD552852 - Sequence 533876 from Patent EP1572962.
JD110597 - Sequence 91621 from Patent EP1572962.
JD154797 - Sequence 135821 from Patent EP1572962.
JD110449 - Sequence 91473 from Patent EP1572962.
JD524253 - Sequence 505277 from Patent EP1572962.
JD486691 - Sequence 467715 from Patent EP1572962.
JD314245 - Sequence 295269 from Patent EP1572962.
JD039318 - Sequence 20342 from Patent EP1572962.
LF206500 - JP 2014500723-A/14003: Polycomb-Associated Non-Coding RNAs.
JD556998 - Sequence 538022 from Patent EP1572962.
BC009510 - Homo sapiens chromosome 9 open reading frame 123, mRNA (cDNA clone MGC:4730 IMAGE:3535614), complete cds.
AK128876 - Homo sapiens cDNA FLJ46908 fis, clone FEBRA2004867.
AK292632 - Homo sapiens cDNA FLJ76577 complete cds.
JD420732 - Sequence 401756 from Patent EP1572962.
AK308643 - Homo sapiens cDNA, FLJ98684.
LF355235 - JP 2014500723-A/162738: Polycomb-Associated Non-Coding RNAs.
JD290896 - Sequence 271920 from Patent EP1572962.
JD375563 - Sequence 356587 from Patent EP1572962.
JF432773 - Synthetic construct Homo sapiens clone IMAGE:100074017 chromosome 9 open reading frame 123 (C9orf123) gene, encodes complete protein.
KJ903553 - Synthetic construct Homo sapiens clone ccsbBroadEn_12947 C9orf123 gene, encodes complete protein.
LF355236 - JP 2014500723-A/162739: Polycomb-Associated Non-Coding RNAs.
JD121094 - Sequence 102118 from Patent EP1572962.
MA442077 - JP 2018138019-A/14003: Polycomb-Associated Non-Coding RNAs.
MA590812 - JP 2018138019-A/162738: Polycomb-Associated Non-Coding RNAs.
MA590813 - JP 2018138019-A/162739: Polycomb-Associated Non-Coding RNAs.

-  Other Names for This Gene
  Alternate Gene Symbols: A8K9B7, C9orf123 , DMAC1 , DMAC1_HUMAN, ENST00000358227.1, ENST00000358227.2, ENST00000358227.3, ENST00000358227.4, NM_033428, Q5T6Y9, Q96GE9, Q9NT74, TMEM261 , uc318alj.1, uc318alj.2
UCSC ID: ENST00000358227.5_7
RefSeq Accession: NM_033428.3
Protein: Q96GE9 (aka CI123_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.