KATNIP (katanin interacting protein)

Gene

• Entrez ID: 23247
• Gene name: Katanin interacting protein
• Gene symbol: KATNIP
• Synonyms (NCBI Gene): JBTS26, KIAA0556
• Chromosome: 16
• Chromosome location: 16p12.1
• Summary: This gene encodes a novel, evolutionarily conserved, ciliary protein. In human hTERT-RPE1 cells, the protein is found at the base of cilia, decorating the ciliary axoneme, and enriched at the ciliary tip. The protein binds to microtubules in vitro and reg

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005615	Component	Extracellular space	HDA	22664934
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005886	Component	Plasma membrane	IDA
GO:0005929	Component	Cilium	IDA
GO:0034451	Component	Centriolar satellite	IDA
GO:0036064	Component	Ciliary basal body	IDA
GO:0042995	Component	Cell projection	IEA
GO:0090660	Process	Cerebrospinal fluid circulation	IEA

Other IDs

• MIM: 616650
• HGNC: 29068
• e!Ensembl: ENSG00000047578

Protein

• UniProt ID: O60303
• Protein name: Katanin-interacting protein
• Protein function: May influence the stability of microtubules (MT), possibly through interaction with the MT-severing katanin complex.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF14652	DUF4457	426 → 607	Domain of unknown function (DUF4457)	Family
  PF14652	DUF4457	949 → 1163	Domain of unknown function (DUF4457)	Family
  PF14652	DUF4457	1214 → 1533	Domain of unknown function (DUF4457)	Family

• Sequence:

  MDGQTLRKAERSWSCSREKKEGYAKDMVTDFDEKHDEYLILLQQRNRILKHLKSKDPVQL
  RLEHLEQGFSVYVNGANSELKSSPRKAIHSDFSRSASHTEGTHDYGRRTLFREAEEALRR
  SSRTAPSKVQRRGWHQKSVQIRTEAGPRLHIEPPVDYSDDFELCGDVTLQANNTSEDRPQ
  ELRRSLELSVNLQRKQKDCSSDEYDSIEEDILSEPEPEDPALVGHPRHDRPPSSGDWTQK
  DVHGEQETEGRSSPGPDTLVVLEFNPASKSHKRERNLSAKRKDNAEVFVPTKPEPNLTPQ
  APAVFPDQERMCSRPGSRRERPLSATRKTLCEAEYPEEDASAVLQAIQVENAALQRALLS
  RKAEQPASPLQDAEGPPAKPWTSLLEEKEETLELLPITTATTTQEPAGAAGGARAINQAM
  DRIGLLGSRQQQKLLKVLQAVESDSAHLGRVVSPTKEQVSDTEDKQRMRADEIKDAIYVT
  MEILSNWGNSWWVGLTEVEFFDLNDTKLYVSPHDVDIRNTATPGELGRLVNRNLAGKKDS
  SPWTCPFHPPLQLFFVIRNTRQLGDFHLAKIKVRNYWTADGDLDIGAKNVKLYVNRNLIF
  NGKLDKGDREAPADHSILVDQKNEKSEQLEEAMNAHSEESKGTHEMAGASGDKELGLGCS
  PPAETLADAKLSSQGNVSGKRKNSTNCRKDSLSQLEEYLRLSAVPTSMGDMPSAPATSPP
  VKCPPVHEEPSLIQQLENLMGRKICEPPGKTPSWLQPSPTGKDRKQGGRKPKPLWLSPEK
  PLAWKGRLPSDDVIGEGPGETEARDKGLRHEPGWGTSRSVNTKERPQRATTKVHSDDSDI
  FNQPPNRERPASGRRGSRKDAGSSSHGDDQPASREDTWSSRTPSRSRWRSEQEHTLHESW
  SSLSAFDRSHRGRISNTELPGDILDELLQQKSSRHSDLPPSKKGEQPGLSRGQDGYSGET
  DAGGDFKIPVLPYGQRLVIDIKSTWGDRHYVGLNGIEIFSSKGEPVQISNIKADPPDINI
  LPAYGKDPRVVTNLIDGVNRTQDDMHVWLAPFTRGRSHSITIDFTHPCHVALIRIWNYNK
  SRIHSFRGVKDITMLLDTQCIFEGEIAKASGTLAGAPEHFGDTILFTTDDDILEAIFYSD
  EMFDLDVGSLDSLQDEEAMRRPSTADGEGDERPFTQAGLGADERIPELELPSSSPVPQVT
  TPEPGIYHGICLQLNFTASWGDLHYLGLTGLEVVGKEGQALPIHLHQISASPRDLNELPE
  YSDDSRALDKLIDGTNITMEDEHMWLIPFSPGLDHVVTIRLDRAESIAGLRFWNYNKSPE
  DTYRGAKIVHVSLDGLCVSPPEGFLIRKGPGNCHFDFAQEILFVDYLRAQLLPQPARRLD
  MRSLECASMDYEAPLMPCGFIFQFQLLTSWGDPYYIGLTGLELYDERGEKIPLSENNIAA
  FPDSVNSLEGVGGDVRTPDKLIDQVNDTSDGRHMWLAPILPGLVNRVYVIFDLPTTVSMI
  KLWNYAKTPHRGVKEFGLLVDDLLVYNGILAMVSHLVGGILPTCEPTVPYHTILFTEDRD
  IRHQEKHTTISNQAEDQDVQMMNENQIITNAKRKQSVVDPALRPKTCISEKETRRRRC

• Sequence length: 1618

Associated diseases

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Joubert syndrome	Likely pathogenic	rs864309712	RCV000203288
Joubert syndrome 26	Likely pathogenic; Pathogenic	rs145247651, rs770446723, rs2144173006, rs1283389193, rs864309712, rs1254671898, rs2543369039, rs2544699266, rs774261860, rs1555497891, rs757493420	RCV003226808 RCV002250429 RCV001814815 RCV005419417 RCV000207324 RCV003129595 RCV003493233 RCV004577166 RCV004586275 RCV000579356 RCV001175212
KATNIP-related disorder	Likely pathogenic; Pathogenic	rs201341558, rs755989946, rs990860262	RCV004744482 RCV003396970 RCV003427773
Ovarian serous cystadenocarcinoma	Likely pathogenic	rs2543369039	RCV005931256
See cases	Likely pathogenic; Pathogenic	rs1283389193	RCV002252470

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Acute myeloid leukemia	Benign; Likely benign	rs61738361, rs61730165, rs55953014, rs61745794	RCV005904932 RCV005904941 RCV005913109 RCV005911758
Adrenocortical carcinoma, hereditary	Benign; Likely benign	rs11644502, rs55953014, rs146963069	RCV005925158 RCV005913111 RCV005907287
Cervical cancer	Benign; Likely benign	rs61738361, rs61745794, rs149033392	RCV005904935 RCV005911759 RCV005908553
Cholangiocarcinoma	Benign; Likely benign	rs11644502, rs55953014	RCV005925162 RCV005913115
Ciliopathy	Uncertain significance	rs746719915	RCV005356160
Clear cell carcinoma of kidney	Benign	rs61738361, rs61730165, rs61745794, rs146963069	RCV005904936 RCV005904942 RCV005911760 RCV005907288
Colon adenocarcinoma	Benign; Likely benign	rs61738361, rs55953014, rs149033392	RCV005904931 RCV005913108 RCV005908552
Colorectal cancer	Benign; Likely benign	rs11644502	RCV005925160
Familial cancer of breast	Benign; Likely benign	rs200420515, rs149033392	RCV005907583 RCV005908551
Gastric cancer	Benign	rs146963069	RCV005907289
Hepatocellular carcinoma	Benign	rs61738361, rs146963069, rs200420515	RCV005904933 RCV005907285 RCV005907584
Joubert syndrome 1	Uncertain significance	rs138866758	RCV003989626
Lung cancer	Benign	rs61738361, rs61730165	RCV005904939 RCV005904943
Malignant lymphoma, large B-cell, diffuse	Benign; Likely benign	rs8053976, rs11644502	RCV005915662 RCV005925159
Malignant tumor of esophagus	Benign; Likely benign	rs55953014, rs146963069	RCV005913110 RCV005907286
Melanoma	Benign; Likely benign	rs55953014	RCV005913114
Nonpapillary renal cell carcinoma	Benign	rs61738361	RCV005904934
Sarcoma	Benign; Likely benign	rs55953014, rs149033392	RCV005913112 RCV005908554
Squamous cell carcinoma of the head and neck	Benign; Likely benign	rs11644502	RCV005925157
Thymoma	Benign	rs61745794	RCV005911761
Thyroid cancer, nonmedullary, 1	Benign; Likely benign	rs61738361, rs55953014, rs116263225, rs146963069	RCV005904938 RCV005913113 RCV005904629 RCV005907290
Uterine carcinosarcoma	Benign; Likely benign	rs11644502	RCV005925161
Uterine corpus endometrial carcinoma	Benign; Likely benign	rs61738361, rs61745794, rs116263225, rs149033392	RCV005904940 RCV005911762 RCV005904630 RCV005908556