Seroatlas · Human Serome Atlas

KANK1

KN motif and ankyrin repeat domain-containing protein 1

Also known as: ANKRD15, KANK, KANK1_HUMAN, KIAA0172

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
Q14678
Gene
KANK1
Ensembl
ENSG00000107104
Chromosome
9
Canonical length
1352 aa
Protein class
Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins
Subcellular location
Plasma membrane

OverviewNCBI Gene

The protein encoded by this gene belongs to the Kank family of proteins, which contain multiple ankyrin repeat domains. This family member functions in cytoskeleton formation by regulating actin polymerization. This gene is a candidate tumor suppressor for renal cell carcinoma. Mutations in this gene cause cerebral palsy spastic quadriplegic type 2, a central nervous system development disorder. A t(5;9) translocation results in fusion of the platelet-derived growth factor receptor beta gene (PDGFRB) on chromosome 5 with this gene in a myeloproliferative neoplasm featuring severe thrombocythemia. Alternative splicing of this gene results in multiple transcript variants. A related pseudogene has been identified on chromosome 20. [provided by RefSeq, Dec 2014]

Canonical amino-acid sequenceUniProt

1352 residues, UniProt reviewed canonical sequence.

>Q14678|KANK1
     1  MAHTTKVNGS ASGKAGDILS GDQDKEQKDP YFVETPYGYQ LDLDFLKYVD DIQKGNTIKR
    61  LNIQKRRKPS VPCPEPRTTS GQQGIWTSTE SLSSSNSDDN KQCPNFLIAR SQVTSTPISK
   121  PPPPLETSLP FLTIPENRQL PPPSPQLPKH NLHVTKTLME TRRRLEQERA TMQMTPGEFR
   181  RPRLASFGGM GTTSSLPSFV GSGNHNPAKH QLQNGYQGNG DYGSYAPAAP TTSSMGSSIR
   241  HSPLSSGIST PVTNVSPMHL QHIREQMAIA LKRLKELEEQ VRTIPVLQVK ISVLQEEKRQ
   301  LVSQLKNQRA ASQINVCGVR KRSYSAGNAS QLEQLSRARR SGGELYIDYE EEEMETVEQS
   361  TQRIKEFRQL TADMQALEQK IQDSSCEASS ELRENGECRS VAVGAEENMN DIVVYHRGSR
   421  SCKDAAVGTL VEMRNCGVSV TEAMLGVMTE ADKEIELQQQ TIESLKEKIY RLEVQLRETT
   481  HDREMTKLKQ ELQAAGSRKK VDKATMAQPL VFSKVVEAVV QTRDQMVGSH MDLVDTCVGT
   541  SVETNSVGIS CQPECKNKVV GPELPMNWWI VKERVEMHDR CAGRSVEMCD KSVSVEVSVC
   601  ETGSNTEESV NDLTLLKTNL NLKEVRSIGC GDCSVDVTVC SPKECASRGV NTEAVSQVEA
   661  AVMAVPRTAD QDTSTDLEQV HQFTNTETAT LIESCTNTCL STLDKQTSTQ TVETRTVAVG
   721  EGRVKDINSS TKTRSIGVGT LLSGHSGFDR PSAVKTKESG VGQININDNY LVGLKMRTIA
   781  CGPPQLTVGL TASRRSVGVG DDPVGESLEN PQPQAPLGMM TGLDHYIERI QKLLAEQQTL
   841  LAENYSELAE AFGEPHSQMG SLNSQLISTL SSINSVMKSA STEELRNPDF QKTSLGKITG
   901  NYLGYTCKCG GLQSGSPLSS QTSQPEQEVG TSEGKPISSL DAFPTQEGTL SPVNLTDDQI
   961  AAGLYACTNN ESTLKSIMKK KDGNKDSNGA KKNLQFVGIN GGYETTSSDD SSSDESSSSE
  1021  SDDECDVIEY PLEEEEEEED EDTRGMAEGH HAVNIEGLKS ARVEDEMQVQ ECEPEKVEIR
  1081  ERYELSEKML SACNLLKNTI NDPKALTSKD MRFCLNTLQH EWFRVSSQKS AIPAMVGDYI
  1141  AAFEAISPDV LRYVINLADG NGNTALHYSV SHSNFEIVKL LLDADVCNVD HQNKAGYTPI
  1201  MLAALAAVEA EKDMRIVEEL FGCGDVNAKA SQAGQTALML AVSHGRIDMV KGLLACGADV
  1261  NIQDDEGSTA LMCASEHGHV EIVKLLLAQP GCNGHLEDND GSTALSIALE AGHKDIAVLL
  1321  YAHVNFAKAQ SPGTPRLGRK TSPGPTHRGS FD

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against KANK1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability
Intracellular
Secreted
No
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.58
Highest tissue expression
81 nTPM

Expression across tissuesHPA

Tissue

  • blood vessel: 81 nTPM
  • liver: 60 nTPM
  • heart muscle: 54 nTPM
  • skeletal muscle: 44 nTPM
  • urinary bladder: 39 nTPM
  • choroid plexus: 39 nTPM

Single-cell type

  • pituitary stem cells: 3,107 nCPM
  • podocytes: 2,506 nCPM
  • distal convoluted tubule cells: 1,881 nCPM
  • choroid plexus epithelial cells: 1,718 nCPM
  • cytotrophoblasts: 1,022 nCPM
  • proximal tubule cells: 774 nCPM

Immune cell

  • plasmacytoid DC: 3.5 nTPM
  • naive CD4 T-cell: 1.9 nTPM
  • memory CD4 T-cell: 1.1 nTPM
  • T-reg: 1 nTPM
  • naive B-cell: 0.8 nTPM
  • memory B-cell: 0.6 nTPM

Brain region

  • choroid plexus: 56 nTPM
  • basal ganglia: 45 nTPM
  • medulla oblongata: 45 nTPM
  • thalamus: 39 nTPM
  • spinal cord: 37 nTPM
  • amygdala: 36 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about KANK1.

Disease | AllUniProt

Conditions KANK1 is implicated in, by any mechanism.

  • Cerebral palsy, spastic quadriplegic 2 (CPSQ2) MIM:612900

Disease | GeneticClinVar

2 pathogenic / likely-pathogenic of 1,140 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)
0.95
gnomAD pLI
0
gnomAD missense Z
-4.81
DepMap mean gene effect
0.18
DepMap dependency class
none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of KANK1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads KANK1 as an antibody target. Whether an autoantibody or antibody against KANK1 could matter depends on whether native KANK1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

KANK1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label KANK1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/KANK1. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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