Human Gene INA (ENST00000369849.9) from GENCODE V44
  Description: Homo sapiens internexin neuronal intermediate filament protein alpha (INA), mRNA. (from RefSeq NM_032727)
RefSeq Summary (NM_032727): Neurofilaments are type IV intermediate filament heteropolymers composed of light, medium, and heavy chains. Neurofilaments comprise the axoskeleton and they functionally maintain the neuronal caliber. They may also play a role in intracellular transport to axons and dendrites. This gene is a member of the intermediate filament family and is involved in the morphogenesis of neurons. [provided by RefSeq, Jun 2009].
Gencode Transcript: ENST00000369849.9
Gencode Gene: ENSG00000148798.11
Transcript (Including UTRs)
   Position: hg38 chr10:103,277,138-103,290,346 Size: 13,209 Total Exon Count: 3 Strand: +
Coding Region
   Position: hg38 chr10:103,277,212-103,288,669 Size: 11,458 Coding Exon Count: 3 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
Genomic Sequence (chr10:103,277,138-103,290,346)mRNA (may differ from genome)Protein (499 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards

-  Comments and Description Text from UniProtKB
DESCRIPTION: RecName: Full=Alpha-internexin; Short=Alpha-Inx; AltName: Full=66 kDa neurofilament protein; Short=NF-66; Short=Neurofilament-66; AltName: Full=Neurofilament 5;
FUNCTION: Class-IV neuronal intermediate filament that is able to self-assemble. It is involved in the morphogenesis of neurons. It may form an independent structural network without the involvement of other neurofilaments or it may cooperate with NF-L to form the filamentous backbone to which NF-M and NF-H attach to form the cross-bridges.
TISSUE SPECIFICITY: Found predominantly in adult CNS.
DEVELOPMENTAL STAGE: Expressed in brain as early as the 16th week of gestation, and increased rapidly and reached a steady state level by the 18th week of gestation.
PTM: O-glycosylated (By similarity).
PTM: Phosphorylated upon DNA damage, probably by ATM or ATR.
SIMILARITY: Belongs to the intermediate filament family.

-  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

-  MalaCards Disease Associations
  MalaCards Gene Search: INA
Diseases sorted by gene-association score: wernicke encephalopathy (11), medulloepithelioma (11), gliomatosis cerebri (11), myopathy, myofibrillar, 3 (9), motor neuron disease (7), medullomyoblastoma (7), dementia, frontotemporal (7), retinitis pigmentosa 55 (6), charcot-marie-tooth disease, type 2e (4), amyotrophic lateral sclerosis 1 (0)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 95.24 RPKM in Brain - Frontal Cortex (BA9)
Total median expression: 680.05 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 -14.8074-0.200 Picture PostScript Text
3' UTR -383.801677-0.229 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
  InterPro Domains: Graphical view of domain structure
IPR016044 - F
IPR001664 - IF
IPR006821 - Intermed_filament_DNA-bd
IPR018039 - Intermediate_filament_CS

Pfam Domains:
PF00038 - Intermediate filament protein
PF04732 - Intermediate filament head (DNA binding) region

ModBase Predicted Comparative 3D Structure on Q16352
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
Genome BrowserGenome BrowserGenome BrowserNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
Protein SequenceProtein SequenceProtein Sequence   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005198 structural molecule activity
GO:0005200 structural constituent of cytoskeleton

Biological Process:
GO:0007275 multicellular organism development
GO:0007399 nervous system development
GO:0021762 substantia nigra development
GO:0030154 cell differentiation
GO:0045104 intermediate filament cytoskeleton organization
GO:0060052 neurofilament cytoskeleton organization
GO:1990830 cellular response to leukemia inhibitory factor

Cellular Component:
GO:0005615 extracellular space
GO:0005654 nucleoplasm
GO:0005882 intermediate filament
GO:0005883 neurofilament
GO:0031965 nuclear membrane
GO:0036464 cytoplasmic ribonucleoprotein granule
GO:0043209 myelin sheath
GO:0045111 intermediate filament cytoskeleton

-  Descriptions from all associated GenBank mRNAs
  LF211362 - JP 2014500723-A/18865: Polycomb-Associated Non-Coding RNAs.
MA446939 - JP 2018138019-A/18865: Polycomb-Associated Non-Coding RNAs.
BC006359 - Homo sapiens internexin neuronal intermediate filament protein, alpha, mRNA (cDNA clone MGC:12702 IMAGE:4125949), complete cds.
S78296 - neurofilament-66 [human, fetal brain, mRNA, 3197 nt].
DQ895980 - Synthetic construct Homo sapiens clone IMAGE:100010440; FLH189205.01L; RZPDo839C0964D internexin neuronal intermediate filament protein, alpha (INA) gene, encodes complete protein.
DQ892733 - Synthetic construct clone IMAGE:100005363; FLH189209.01X; RZPDo839C0974D internexin neuronal intermediate filament protein, alpha (INA) gene, encodes complete protein.
AB209785 - Homo sapiens mRNA for internexin neuronal intermediate filament protein, alpha variant protein.
AK293490 - Homo sapiens cDNA FLJ57501 complete cds, highly similar to Alpha-internexin.
LF212798 - JP 2014500723-A/20301: Polycomb-Associated Non-Coding RNAs.
MA448375 - JP 2018138019-A/20301: Polycomb-Associated Non-Coding RNAs.
JD464930 - Sequence 445954 from Patent EP1572962.
AK311620 - Homo sapiens cDNA, FLJ18662.
LF345907 - JP 2014500723-A/153410: Polycomb-Associated Non-Coding RNAs.
MA581484 - JP 2018138019-A/153410: Polycomb-Associated Non-Coding RNAs.
LF345908 - JP 2014500723-A/153411: Polycomb-Associated Non-Coding RNAs.
MA581485 - JP 2018138019-A/153411: Polycomb-Associated Non-Coding RNAs.
LF345909 - JP 2014500723-A/153412: Polycomb-Associated Non-Coding RNAs.
MA581486 - JP 2018138019-A/153412: Polycomb-Associated Non-Coding RNAs.
JD131194 - Sequence 112218 from Patent EP1572962.
JD254533 - Sequence 235557 from Patent EP1572962.
JD502254 - Sequence 483278 from Patent EP1572962.
JD080177 - Sequence 61201 from Patent EP1572962.
JD346057 - Sequence 327081 from Patent EP1572962.
JD098774 - Sequence 79798 from Patent EP1572962.
LF345910 - JP 2014500723-A/153413: Polycomb-Associated Non-Coding RNAs.
MA581487 - JP 2018138019-A/153413: Polycomb-Associated Non-Coding RNAs.
JD313246 - Sequence 294270 from Patent EP1572962.
LF345911 - JP 2014500723-A/153414: Polycomb-Associated Non-Coding RNAs.
MA581488 - JP 2018138019-A/153414: Polycomb-Associated Non-Coding RNAs.
JD516614 - Sequence 497638 from Patent EP1572962.
LF345912 - JP 2014500723-A/153415: Polycomb-Associated Non-Coding RNAs.
MA581489 - JP 2018138019-A/153415: Polycomb-Associated Non-Coding RNAs.
LF345913 - JP 2014500723-A/153416: Polycomb-Associated Non-Coding RNAs.
MA581490 - JP 2018138019-A/153416: Polycomb-Associated Non-Coding RNAs.
JD062164 - Sequence 43188 from Patent EP1572962.
AY034000 - Homo sapiens mutant internexin alpha mRNA, complete cds.
LF345914 - JP 2014500723-A/153417: Polycomb-Associated Non-Coding RNAs.
MA581491 - JP 2018138019-A/153417: Polycomb-Associated Non-Coding RNAs.
JD316370 - Sequence 297394 from Patent EP1572962.
LF345915 - JP 2014500723-A/153418: Polycomb-Associated Non-Coding RNAs.
MA581492 - JP 2018138019-A/153418: Polycomb-Associated Non-Coding RNAs.
JD228850 - Sequence 209874 from Patent EP1572962.
JD451321 - Sequence 432345 from Patent EP1572962.
JD354834 - Sequence 335858 from Patent EP1572962.
JD326802 - Sequence 307826 from Patent EP1572962.
JD325132 - Sequence 306156 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: AINX_HUMAN, B1AQK0, ENST00000369849.1, ENST00000369849.2, ENST00000369849.3, ENST00000369849.4, ENST00000369849.5, ENST00000369849.6, ENST00000369849.7, ENST00000369849.8, NEF5, NM_032727, Q16352, Q9BRC5, uc001kws.1, uc001kws.2, uc001kws.3, uc001kws.4
UCSC ID: ENST00000369849.9
RefSeq Accession: NM_032727
Protein: Q16352 (aka AINX_HUMAN)
CCDS: CCDS7545.1

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