Human Gene KNDC1 (uc001llz.1)
  Description: Homo sapiens kinase non-catalytic C-lobe domain (KIND) containing 1 (KNDC1), mRNA.
RefSeq Summary (NM_152643): The protein encoded by this gene is a Ras guanine nucleotide exchange factor that appears to negatively regulate dendritic growth in the brain. Knockdown of this gene in senescent umbilical vein endothelial cells partially reversed the senescence, showing that this gene could potentially be targeted by anti-aging therapies. [provided by RefSeq, Dec 2016].
Transcript (Including UTRs)
   Position: hg19 chr10:134,973,971-135,039,916 Size: 65,946 Total Exon Count: 30 Strand: +
Coding Region
   Position: hg19 chr10:134,973,972-135,038,394 Size: 64,423 Coding Exon Count: 30 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr10:134,973,971-135,039,916)mRNA (may differ from genome)Protein (1749 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHPRDLynxMGI
neXtProtOMIMPubMedTreefamUniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: VKIND_HUMAN
DESCRIPTION: RecName: Full=Protein very KIND; AltName: Full=Cerebral protein 9; AltName: Full=KIND domain-containing protein 1; AltName: Full=Kinase non-catalytic C-lobe domain-containing protein 1; AltName: Full=Ras-GEF domain-containing family member 2;
FUNCTION: Probable guanine nucleotide exchange factor (GEF).
TISSUE SPECIFICITY: Expressed specifically in the cerebral cortex.
SIMILARITY: Contains 2 KIND domains.
SIMILARITY: Contains 1 N-terminal Ras-GEF domain.
SIMILARITY: Contains 1 Ras-GEF domain.
SEQUENCE CAUTION: Sequence=BAB21859.1; Type=Erroneous initiation; Sequence=CAI17339.1; Type=Erroneous gene model prediction;

-  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


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): KNDC1
CDC HuGE Published Literature: KNDC1
Positive Disease Associations: Body Height
Related Studies:
  1. Body Height
    , , . [PubMed 0]

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  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: 36.06 RPKM in Brain - Cerebellum
Total median expression: 289.67 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
3' UTR -612.311522-0.402 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
IPR011019 - KIND
IPR000651 - Ras-like_Gua-exchang_fac_N
IPR023578 - Ras_GEF_dom
IPR001895 - RasGRF_CDC25

Pfam Domains:
PF00617 - RasGEF domain
PF00618 - RasGEF N-terminal motif
PF16474 - Kinase non-catalytic C-lobe domain

SCOP Domains:
48366 - Ras GEF

ModBase Predicted Comparative 3D Structure on Q76NI1
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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 orthologGenome BrowserNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
  Ensembl   
  Protein Sequence   
  Alignment   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003674 molecular_function
GO:0005085 guanyl-nucleotide exchange factor activity
GO:0005088 Ras guanyl-nucleotide exchange factor activity

Biological Process:
GO:0001934 positive regulation of protein phosphorylation
GO:0007264 small GTPase mediated signal transduction
GO:0008150 biological_process
GO:0021707 cerebellar granule cell differentiation
GO:0048814 regulation of dendrite morphogenesis
GO:0050773 regulation of dendrite development

Cellular Component:
GO:0005575 cellular_component
GO:0030425 dendrite
GO:0032045 guanyl-nucleotide exchange factor complex
GO:0042995 cell projection
GO:0043025 neuronal cell body
GO:0043204 perikaryon


-  Descriptions from all associated GenBank mRNAs
  BC172419 - Synthetic construct Homo sapiens clone IMAGE:100069113, MGC:199124 kinase non-catalytic C-lobe domain (KIND) containing 1 (KNDC1) mRNA, encodes complete protein.
AK090457 - Homo sapiens mRNA for FLJ00378 protein.
AB051555 - Homo sapiens mRNA for KIAA1768 protein, partial cds.
AB000781 - Homo sapiens hucep-9 mRNA for cerebral protein-9, complete cds.
JD470654 - Sequence 451678 from Patent EP1572962.
AK074179 - Homo sapiens mRNA for FLJ00252 protein.
DQ588046 - Homo sapiens piRNA piR-55158, complete sequence.
AK294170 - Homo sapiens cDNA FLJ56427 complete cds, highly similar to Homo sapiens kinase non-catalytic C-lobe domain containing 1, transcript variant 1, mRNA.
AK131205 - Homo sapiens cDNA FLJ16067 fis, clone FEBRA2001990, weakly similar to SON OF SEVENLESS PROTEIN HOMOLOG 2.
BC047924 - Homo sapiens kinase non-catalytic C-lobe domain (KIND) containing 1, mRNA (cDNA clone IMAGE:5284866), partial cds.
AK057756 - Homo sapiens cDNA FLJ25027 fis, clone CBL02392.
JD277361 - Sequence 258385 from Patent EP1572962.
JD393408 - Sequence 374432 from Patent EP1572962.
JD484033 - Sequence 465057 from Patent EP1572962.
JD470997 - Sequence 452021 from Patent EP1572962.
JD071715 - Sequence 52739 from Patent EP1572962.
JD540898 - Sequence 521922 from Patent EP1572962.
JD108902 - Sequence 89926 from Patent EP1572962.
JD368662 - Sequence 349686 from Patent EP1572962.
JD397406 - Sequence 378430 from Patent EP1572962.
JD561522 - Sequence 542546 from Patent EP1572962.
JD537463 - Sequence 518487 from Patent EP1572962.
JD094797 - Sequence 75821 from Patent EP1572962.
JD386807 - Sequence 367831 from Patent EP1572962.
JD270577 - Sequence 251601 from Patent EP1572962.
JD389122 - Sequence 370146 from Patent EP1572962.
JD389123 - Sequence 370147 from Patent EP1572962.
JD394312 - Sequence 375336 from Patent EP1572962.
JD446815 - Sequence 427839 from Patent EP1572962.
JD424669 - Sequence 405693 from Patent EP1572962.
JD101462 - Sequence 82486 from Patent EP1572962.
JD065911 - Sequence 46935 from Patent EP1572962.
JD190907 - Sequence 171931 from Patent EP1572962.
JD172709 - Sequence 153733 from Patent EP1572962.
JD537951 - Sequence 518975 from Patent EP1572962.
JD170979 - Sequence 152003 from Patent EP1572962.
JD516311 - Sequence 497335 from Patent EP1572962.
JD188961 - Sequence 169985 from Patent EP1572962.
JD564745 - Sequence 545769 from Patent EP1572962.
JD061136 - Sequence 42160 from Patent EP1572962.
JD314826 - Sequence 295850 from Patent EP1572962.
JD186761 - Sequence 167785 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: B0QZC5, C10orf23, hucep-9, KIAA1768, NM_152643, NP_689856, Q5T233, Q6ZNH8, Q76NI1, Q8TEE5, Q96LV7, Q9C095, RASGEF2, VKIND, VKIND_HUMAN
UCSC ID: uc001llz.1
RefSeq Accession: NM_152643
Protein: Q76NI1 (aka VKIND_HUMAN)
CCDS: CCDS7674.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_152643.6
exon count: 30CDS single in 3' UTR: no RNA size: 6773
ORF size: 5250CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 9405.50frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
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.