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1: KANK1 KN motif and ankyrin repeat domains 1 [ Homo sapiens ]

GeneID: 23189 updated 4-Dec-2009

[Top][Help]Summary

Official Symbol
KANK1provided by HGNC
Official Full Name
KN motif and ankyrin repeat domains 1provided by HGNC
Primary Source
HGNC:19309
Locus Tag
RP11-130C19.4
See related
Ensembl:ENSG00000107104; HPRD:09651; MIM:607704
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
KANK; ANKRD15; KIAA0172; MGC43128; DKFZp451G231; KANK1
Summary
This gene encodes a protein containing four ankyrin repeat domains in its C-terminus. The suggested role for this protein is in tumorigenesis of renal cell carcinoma. Two alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq]

[Top][Help]Genomic regions, transcripts, and products

(plus) Go to reference sequence detailsTry our new Sequence Viewer


[Top][Help]Genomic context

chromosome: 9; Location: 9p24.3See KANK1 in MapViewer

[Top][Help]Bibliography

Related Articles in PubMed

GeneRIFs: Gene References Into Function What's a GeneRIF?

PubMed 1. These results suggest that KIF21A regulates the distribution of Kank1 and that KIF21A mutations associated with congenital fibrosis of the extraocular muscles type 1 enhanced the accumulation of Kank1 in the membrane fraction.
PubMed 2. Observational study of gene-disease association. (HuGE Navigator)
PubMed 3. Data suggest that Kank negatively regulates the formation of actin stress fibers and cell migration through the inhibition of RhoA activity, which is controlled by binding of Kank to 14-3-3 in PI3K-Akt signaling.
PubMed 4. Human Kank gene has several alternative first exons.
PubMed 5. Kank can bind to beta-catenin and regulate the subcellular distribution of beta-catenin.
PubMed 6. Kank is localized to 9p24 and plays a role in cell growth
Submit: New GeneRIF Correction

[Top][Help]General gene information

Markers

STS-AA004761(e-PCR)
Links: UniSTS:27137
G32411(e-PCR)
Links: UniSTS:116998
D11S2921(e-PCR)
Links: UniSTS:152074
NoName(e-PCR)
Links: UniSTS:9484
D10S275(e-PCR)
Links: UniSTS:147992
SHGC-79801(e-PCR)
Links: UniSTS:96024
SHGC-146309(e-PCR)
Links: UniSTS:175140
A009C13(e-PCR)
Links: UniSTS:83246
HSC2FF032(e-PCR)
Links: UniSTS:4913
D8S2279(e-PCR)
Links: UniSTS:473907
RH70155(e-PCR)
Links: UniSTS:12872
SHGC-150818(e-PCR)
Links: UniSTS:173143
L18426(e-PCR)
Links: UniSTS:34648
RH48945(e-PCR)
Links: UniSTS:12640
D1S1423(e-PCR)
Links: UniSTS:149619
D8S1344E(e-PCR)
Links: UniSTS:151162
RH45283(e-PCR)
Links: UniSTS:71817
SHGC-146489(e-PCR)
Links: UniSTS:175249
SHGC-155656(e-PCR)
Links: UniSTS:184995
SHGC-142384(e-PCR)
Links: UniSTS:171428
SHGC-106538(e-PCR)
Links: UniSTS:169912
L17971(e-PCR)
Links: UniSTS:43966
WI-16217(e-PCR)
Links: UniSTS:60356
D9S1858(e-PCR), detects polymorphism
Links: UniSTS:71373
D5S1597E(e-PCR)
Links: UniSTS:151019
RH118407(e-PCR)
Links: UniSTS:95482

Phenotypes

Cerebral palsy, spastic quadriplegic
MIM: 612900

Homology

Homologs of the KANK1 gene The KANK1 gene is conserved in chimpanzee, cow, mouse, rat, chicken, and zebrafish.


Map Viewer (Mouse, Rat)

Gene Ontology Provided by GOA

Component Evidence
cytoplasm IEA   

[Top][Help]General protein information

Preferred Names
KN motif and ankyrin repeat domains 1
Names
KN motif and ankyrin repeat domains 1
OTTHUMP00000020957
ankyrin repeat domain 15
kidney ankyrin repeat-containing protein
NP_055973.2
5` and 3` partial

[Top][Help]NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

mRNA and Protein(s)

  1. NM_015158.2 → NP_055973.2  KN motif and ankyrin repeat domains 1 isoform a

    Description
    Transcript Variant: This variant (1) represents the shorter transcript, but encodes the longer isoform (a).
    Source sequence(s)
    AK025428,AL833161,BC037495,BX648931
    Consensus CDS
    CCDS34976.1
    UniProtKB/Swiss-Prot
    Q14678
    Related Ensembl
    ENSP00000371734, ENSP00000371740, ENST00000382297, ENST00000382303
    Conserved Domains (2) summary
    cd00204
    Location:1156 – 1287
    Blast Score: 300
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other...
    TIGR02168
    Location:264 – 528
    Blast Score: 105
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type

  2. NM_153186.3 → NP_694856.1  KN motif and ankyrin repeat domains 1 isoform b

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and the 5' coding region, compared to variant 1. The resulting isoform (b) has a shorter N-terminus, compared to isoform a.
    Source sequence(s)
    AK025428,AL039663,AL833161,BX648931
    Consensus CDS
    CCDS6441.1
    UniProtKB/TrEMBL
    A2A2W8
    Related Ensembl
    ENSP00000223950, ENSP00000371730, ENST00000223950, ENST00000382293
    Conserved Domains (2) summary
    cd00204
    Location:998 – 1129
    Blast Score: 297
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other...
    TIGR02168
    Location:106 – 370
    Blast Score: 102
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type

RefSeqs of Annotated Genomes: Build 37.1

The following sections contain reference sequences that belong to a specific genome build. Explain

Genome Reference Consortium Human Build 37 (GRCh37), Primary_Assembly

Genomic

  1. NC_000009.11

    Range
    504702..746102
    Download
    GenBank FASTA Sequence Viewer (Graphics)

  2. NT_008413.18 

    Range
    494702..736102
    Download
    GenBank FASTA Sequence Viewer (Graphics)

Alternate assembly (Celera)

Genomic

  1. AC_000052.1

    Range
    421696..662616
    Download
    GenBank FASTA Sequence Viewer (Graphics)

  2. NW_924062.1 

    Range
    306215..547135
    Download
    GenBank FASTA Sequence Viewer (Graphics)

Alternate assembly (HuRef)

Genomic

  1. AC_000141.1

    Range
    456472..697773, complement
    Download
    GenBank FASTA Sequence Viewer (Graphics)

  2. NW_001839149.2 

    Range
    35170447..35411748, complement
    Download
    GenBank FASTA Sequence Viewer (Graphics)

[Top][Help]Related Sequences

  Nucleotide   Protein
  genomic   AL136979.16   CAH70387.1
       CAH70388.1
       CAH70389.1
       CAH70390.1
       CAM13084.1
  genomic   AL161725.13  (138564..181178)   None
  genomic   AL392089.7  (100..78030)   None
  genomic   CH471071.2   EAW58821.1
       EAW58822.1
  mRNA   AB205106.1   BAD97395.1
  mRNA   AB205107.1   BAD97396.1
  mRNA   AB205108.1   BAD97397.1
  mRNA   AB205109.1   BAD97398.1
  mRNA   AB205110.1   BAD97399.1
  mRNA   AK025428.1   None
  mRNA   AK025636.1   None
  mRNA   AK026421.1   None
  mRNA   AK290028.1   BAF82717.1
  mRNA   AK292989.1   BAF85678.1
  mRNA   AL039663.1   None
  mRNA   AL832454.2   CAD90003.2
  mRNA   AL833015.1   CAH56292.1
  mRNA   AL833161.1   None
  mRNA   BC020040.1   AAH20040.1
  mRNA   BC037495.2   AAH37495.1
  mRNA   BC038116.2   AAH38116.1
  mRNA   BX648931.1   None
  mRNA   CR594759.1   None
  mRNA   D79994.2   BAA11489.2
Protein Accession   Links
Q14678.3   GenPept   UniProtKB/Swiss-Prot:Q14678
Q53U93   GenPept   UniProtKB/TrEMBL:Q53U93
Q5W0W1   GenPept   UniProtKB/TrEMBL:Q5W0W1
Q5W0W3   GenPept   UniProtKB/TrEMBL:Q5W0W3
Q658S3   GenPept   UniProtKB/TrEMBL:Q658S3
Q6PIB3   GenPept   UniProtKB/TrEMBL:Q6PIB3
Q86TE2   GenPept   UniProtKB/TrEMBL:Q86TE2
Q8WUM7   GenPept   UniProtKB/TrEMBL:Q8WUM7

[Top][Help]Additional Links