KNDC1 kinase non-catalytic C-lobe domain containing 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: KNDC1provided by HGNC
Official Full Name: kinase non-catalytic C-lobe domain containing 1provided by HGNC
Primary source: HGNC:HGNC:29374
See related: Ensembl:ENSG00000171798 MIM:616237; AllianceGenome:HGNC:29374
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: v-KIND; RASGEF2; C10orf23; Very-KIND; bB439H18.3
Summary: 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]
Expression: Biased expression in brain (RPKM 6.5), ovary (RPKM 2.2) and 6 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 10q26.3

Exon count:: 34

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	10	NC_000010.11 (133160219..133226412)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	10	NC_060934.1 (134116905..134181903)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	10	NC_000010.10 (134973723..135039916)

Chromosome 10 - NC_000010.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The results demonstrated that KNDC1 overexpression possibly inhibited HUVEC activity and function and promoted HUVEC senescence. Mechanistic studies demonstrated that KNDC1 triggered a p53ROS positive feedback loop, which serves a crucial role in regulating senescence.
Title: Effect of KNDC1 overexpression on the senescence of human umbilical vein endothelial cells.
KNDC1 knockdown promoted HUVEC proliferation via the extracellular signal-regulated kinase signaling pathway and delayed HUVEC senescence by inhibiting the p53-p21-p16 transduction cascade.
Title: KNDC1 knockdown protects human umbilical vein endothelial cells from senescence.
Observational study of gene-disease association. (HuGE Navigator)
Title: A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.

Submit: New GeneRIF Correction

Phenotypes

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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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

KNDC1__6343 (e-PCR)
- UniSTS:468494

SGC32344 (e-PCR)
- UniSTS:41765

RH78666 (e-PCR)
- UniSTS:71383

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables guanyl-nucleotide exchange factor activity	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in cerebellar granule cell differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of protein phosphorylation	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of dendrite development	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of dendrite morphogenesis	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of dendrite morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in small GTPase-mediated signal transduction	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in dendrite	IBA Inferred from Biological aspect of Ancestor more info
located_in dendrite	ISS Inferred from Sequence or Structural Similarity more info
part_of guanyl-nucleotide exchange factor complex	IBA Inferred from Biological aspect of Ancestor more info
part_of guanyl-nucleotide exchange factor complex	ISS Inferred from Sequence or Structural Similarity more info
is_active_in neuronal cell body	IBA Inferred from Biological aspect of Ancestor more info
located_in neuronal cell body	ISS Inferred from Sequence or Structural Similarity more info
located_in perikaryon	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: kinase non-catalytic C-lobe domain-containing protein 1

Names: KIND domain-containing protein 1; RasGEF domain family, member 2; cerebral protein 9; kinase non-catalytic C-lobe domain (KIND) containing 1; protein very KIND; ras-GEF domain-containing family member 2

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.

Genomic

NG_053178.1 RefSeqGene

Range

5124..71317

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001347864.2 → NP_001334793.1 kinase non-catalytic C-lobe domain-containing protein 1 isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 3' UTR and coding sequence compared to variant 1. The resulting isoform (2) has a shorter and distinct C-terminus compared to isoform 1.

Source sequence(s)

AL445199

Consensus CDS

CCDS91390.1

UniProtKB/TrEMBL

A0A804HIZ4

Related

ENSP00000507288.1, ENST00000684739.1
NM_001347865.2 → NP_001334794.1 kinase non-catalytic C-lobe domain-containing protein 1 isoform 3

Status: REVIEWED

Description

Transcript Variant: This variant (3) differs in the 3' UTR and coding sequence compared to variant 1. The resulting isoform (3) has a shorter and distinct C-terminus compared to isoform 1.

Source sequence(s)

AL445199

Consensus CDS

CCDS91388.1

UniProtKB/TrEMBL

A0A804HID6, A0A804HKF6

Related

ENSP00000507020.1, ENST00000682765.1
NM_001347866.2 → NP_001334795.1 kinase non-catalytic C-lobe domain-containing protein 1 isoform 4

Status: REVIEWED

Description

Transcript Variant: This variant (4) differs in the 3' UTR and coding sequence compared to variant 1. The resulting isoform (4) has a shorter and distinct C-terminus compared to isoform 1.

Source sequence(s)

AL445199

Consensus CDS

CCDS91389.1

UniProtKB/TrEMBL

A0A804HHZ0, A0A804HKF6

Related

ENSP00000506821.1, ENST00000683259.1

Conserved Domains (1) summary

cl21453
Location:37 → 120

PKc_like; Protein Kinases, catalytic domain
NM_152643.8 → NP_689856.6 kinase non-catalytic C-lobe domain-containing protein 1 isoform 1

See identical proteins and their annotated locations for NP_689856.6

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).

Source sequence(s)

AL445199

Consensus CDS

CCDS7674.1

UniProtKB/Swiss-Prot

B0QZC5, Q5T233, Q6ZNH8, Q76NI1, Q8TEE5, Q96LV7, Q9C095

Related

ENSP00000304437.3, ENST00000304613.8

Conserved Domains (5) summary

cd06224
Location:1254 → 1368

REM; Guanine nucleotide exchange factor for Ras-like GTPases; N-terminal domain (RasGef_N), also called REM domain (Ras exchanger motif). This domain is common in nucleotide exchange factors for Ras-like small GTPases and is typically found immediately ...

smart00750
Location:37 → 217

KIND; kinase non-catalytic C-lobe domain

pfam00617
Location:1475 → 1673

RasGEF; RasGEF domain

pfam15760
Location:215 → 333

DLEU7; Leukemia-associated protein 7

cl21453
Location:444 → 608

PKc_like; Protein Kinases, catalytic domain

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

NC_000010.11 Reference GRCh38.p14 Primary Assembly

Range

133160219..133226412

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017016858.3 → XP_016872347.1 kinase non-catalytic C-lobe domain-containing protein 1 isoform X1

Conserved Domains (5) summary

cd06224
Location:1254 → 1368

REM; Guanine nucleotide exchange factor for Ras-like GTPases; N-terminal domain (RasGef_N), also called REM domain (Ras exchanger motif). This domain is common in nucleotide exchange factors for Ras-like small GTPases and is typically found immediately ...

smart00750
Location:37 → 217

KIND; kinase non-catalytic C-lobe domain

PHA03247
Location:619 → 896

PHA03247; large tegument protein UL36; Provisional

pfam00617
Location:1475 → 1560

RasGEF; RasGEF domain

cl21453
Location:444 → 608

PKc_like; Protein Kinases, catalytic domain
XM_017016859.3 → XP_016872348.1 kinase non-catalytic C-lobe domain-containing protein 1 isoform X2

UniProtKB/TrEMBL

A0A7I2PM36

Related

ENSP00000507504.1, ENST00000684081.1

Conserved Domains (3) summary

smart00750
Location:37 → 217

KIND; kinase non-catalytic C-lobe domain

PHA03247
Location:619 → 896

PHA03247; large tegument protein UL36; Provisional

cl21453
Location:444 → 608

PKc_like; Protein Kinases, catalytic domain
XM_024448245.2 → XP_024304013.1 kinase non-catalytic C-lobe domain-containing protein 1 isoform X3

UniProtKB/TrEMBL

A0A804HI34, A0A804HKF6

Related

ENSP00000506878.1, ENST00000478074.6

Conserved Domains (1) summary

cl21453
Location:37 → 132

PKc_like; Protein Kinases, catalytic domain

Alternate T2T-CHM13v2.0

Genomic

NC_060934.1 Alternate T2T-CHM13v2.0

Range

134116905..134181903

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054367052.1 → XP_054223027.1 kinase non-catalytic C-lobe domain-containing protein 1 isoform X1
XM_054367053.1 → XP_054223028.1 kinase non-catalytic C-lobe domain-containing protein 1 isoform X2
XM_054367054.1 → XP_054223029.1 kinase non-catalytic C-lobe domain-containing protein 1 isoform X3

UniProtKB/TrEMBL

A0A804HI34