• Gene id: 85442

Gene Summary

• Gene Symbol: KNDC1   Gene   UCSC   Ensembl
• Aliases: C10orf23, RASGEF2, Very-KIND, bB439H18.3, v-KIND
• Gene name: kinase non-catalytic C-lobe domain containing 1
• Alternate names: kinase non-catalytic C-lobe domain-containing protein 1, 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,
• Gene location: 10q26.3 (133160218: 133226411)     Exons: 34     NC_000010.11
• Gene summary(Entrez): 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

Protein Summary

• Protein general information: Q76NI1  
  • Name: Kinase non catalytic C lobe domain containing protein 1 (KIND domain containing protein 1) (Cerebral protein 9) (Protein very KIND) (v KIND) (Ras GEF domain containing family member 2)
  • Length: 1749  
  • Mass: 191397
  • Tissue specificity: Expressed specifically in the cerebral cortex. {ECO
• Sequence:

  MQAMDPAAADLYEEDGKDLDFYDFEPLPTLPEDEENVSLADILSLRDRGLSEQEAWAVCLECSLSMRSVAHAAIF
  QSLCITPDTLAFNTSGNVCFMEQLSDDPEGAFVPPEFDVTGNTFEAHIYSLGATLKAALEYVAEPTLEPRLSQDL
  EALLSRMQAEDPGDRPDLESIIALCEEKLQLTSSCRVCRSLSAVGRRVLSIESFGALQDVSESSWRERPAPGNAG
  PRRPPGDPSTDPEVLPTPEGPESETSRGPRASPTKALLSTPVRNGESHSREGLAGLVLDAERTLGELDRDALRRS
  RLRKVQTFPRLLSDSPEATLCLPLTRGKSQLPISELFSPDPRKAFLDRKNGLSSFQAQPKCRLWPEQEPEHQLGR
  VPCAGRSTDRGPGVPGSPGQPETSHPSQGPAEAPADPRDASGEAQTPRDDERIPEGARQLESAAAEQWVSLQDLL
  SQLGRPFREYELWALCLACLRALQTRPEHPAYLCLDSVLVAEDGAVLFQPPPANGSYDSFFLAPELAEERLVTEK
  ASVYCVAAVLWTAAKFSVPRNHKLALPRRLKTLLLDMARRSAPERPSAAEAIKVCGSYLLQRGMDSRKILAHLRA
  SICQVYQEEETISLQNAFSVVELKPSVAPAPEPSPGFLPVNSDTGLVAVPGPVPGQHPCGEEATQLPAAFTSEAT
  HFKPIVLAQNASVARDQPALAQEESEERGGQREGEGEEKLSLEAHAGSPSLKTPDGPVPGPGPQGAAPEPLGASV
  QRDSAQGRPCPPPQAPANQPEGASSAAPGSPVPAPPTKASALPVEQGPAEPIPPGVASGGLRPDALGPTTAHHGP
  RHPPKPPRSKATERPGQEPEGPGATPAGERDDQSPDSVPERPRPADRRLCLPCVDASPLPGRTACPSLQEATRLI
  QEEFAFDGYLDNGLEALIMGEYIFALKDLTFATFCGAISEKFCDLYWDEKLLQNLFKVVNGQASPSPSTAEEAGS
  QLEGSQSPRSPSSKRPSLHRLGKEKPAMARTSSRAPCSPTSVSDVDSDALSRGNFEVGFRPQRSVKAERAQQPEA
  GEDRRPAGGASDVEAVTRLARSKGVGPALSPGPAGFQSCSPGWCSAFYEADCFGADVHNYVKDLGRQQADGALPD
  AQSPELEQQLMMEKRNYRKTLKFYQKLLQKEKRNKGSDVKTMLSKLKGQLEEMKSRVQFLSLVKKYLQVMYAERW
  GLEPCTLPVIVNIAAAPCDTLDFSPLDESSSLIFYNVNKHPGGRQKARILQAGTPLGLMAYLYSSDAFLEGYVQQ
  FLYTFRYFCTPHDFLHFLLDRINSTLTRAHQDPTSTFTKIYRRSLCVLQAWVEDCYAVDFPRNSGLLGKLEDFIS
  SKILPLDGSAKHLLGLLEVGMDRRAEGNPRGTDLENPREAEEDARPFNALCKRLSEDGISRKSFPWRLPRGNGLV
  LPPHKERPYTIAAALPKPCFLEDFYGPCAKTSEKGPYFLTEYSTHQLFSQLTLLQQELFQKCHPVHFLNSRALGV
  MDKSTAIPKASSSESLSAKTCSLFLPNYVQDKYLLQLLRNADDVSTWVAAEIVTSHTSKLQVNLLSKFLLIAKSC
  YEQRNFATAMQILSGLEHLAVRQSPAWRILPAKIAEVMEELKAVEVFLKSDSLCLMEGRRFRAQPTLPSAHLLAM
  HIQQLETGGFTMTNGAHRWSKLRNIAKVVSQVHAFQENPYTFSPDPKLQSYLKQRIARFSGADISTLAADSRANF
  HQVSSEKHSRKIQDKLRRMKATFQ

• Structural information:
  • Protein Domains: (37..21-)
    (/note="KIND-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00709-)
    (444..60-)
    (/note="KIND-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00709-)
    (1246..137-)
    (/note="N-terminal-Ras-GEF)
    (/evidence="ECO:0000255|PROSITE-ProRul-)
  • Interpro: IPR011009  IPR011019  IPR029899  IPR000651  IPR023578   IPR001895  IPR036964  
  • Prosite: PS51377 PS50009 PS50212
  • CDD: cd06224
  • STRING: ENSP00000304437
• Other Databases: GeneCards:  KNDC1  Malacards:  KNDC1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005088	Ras guanyl-nucleotide exchange factor activity	IBA	molecular function
GO:0030425	dendrite	ISS	cellular component
GO:0050773	regulation of dendrite development	ISS	biological process
GO:0043025	neuronal cell body	ISS	cellular component
GO:0032045	guanyl-nucleotide exchange factor complex	ISS	cellular component
GO:0048814	regulation of dendrite morphogenesis	ISS	biological process
GO:0021707	cerebellar granule cell differentiation	ISS	biological process
GO:0001934	positive regulation of protein phosphorylation	ISS	biological process
GO:0005088	Ras guanyl-nucleotide exchange factor activity	IEA	molecular function
GO:0005085	guanyl-nucleotide exchange factor activity	IEA	molecular function
GO:0007264	small GTPase mediated signal transduction	IEA	biological process
GO:0042995	cell projection	IEA	cellular component
GO:0005085	guanyl-nucleotide exchange factor activity	IEA	molecular function
GO:0050773	regulation of dendrite development	IEA	biological process
GO:0030425	dendrite	IEA	cellular component
GO:0005088	Ras guanyl-nucleotide exchange factor activity	IEA	molecular function
GO:0048814	regulation of dendrite morphogenesis	IEA	biological process
GO:0043025	neuronal cell body	IEA	cellular component
GO:0032045	guanyl-nucleotide exchange factor complex	IEA	cellular component
GO:0021707	cerebellar granule cell differentiation	IEA	biological process
GO:0001934	positive regulation of protein phosphorylation	IEA	biological process
GO:0030425	dendrite	IEA	cellular component
GO:0043204	perikaryon	IEA	cellular component
GO:0008150	biological_process	ND	biological process
GO:0005575	cellular_component	ND	cellular component
GO:0003674	molecular_function	ND	molecular function

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray