Q14678 (KANK1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
KN motif and ankyrin repeat domain-containing protein 1

Alternative name(s):
Ankyrin repeat domain-containing protein 15
Kidney ankyrin repeat-containing protein

Gene names

Name:	KANK1
Synonyms:	ANKRD15, KANK, KIAA0172

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	1352 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Potential tumor suppressor for renal cell carcinoma. Ref.5
Subcellular location	Cytoplasm Ref.5.
Involvement in disease	Defects in KANK1 are the cause of cerebral palsy spastic quadriplegic type 2 (CPSQ2) [MIM:612900]. A non-progressive disorder of movement and/or posture resulting from defects in the developing central nervous system. Affected individuals manifest congenital hypotonia evolving over the first year to spastic quadriplegia with accompanying transient nystagmus and varying degrees of mental retardation. Neuroimaging shows brain atrophy and ventriculomegaly. Ref.6
Sequence similarities	Contains 5 ANK repeats.
Sequence caution	The sequence BAA11489.2 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

Ontologies

Keywords
Cellular component	Cytoplasm
Coding sequence diversity	Polymorphism
Disease	Tumor suppressor
Domain	ANK repeat Coiled coil Repeat
PTM	Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological process	negative regulation of actin filament polymerization Inferred from direct assay. Source: MGI
Cellular component	cytoplasm Inferred from direct assay. Source: HPA
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 1352	1352	KN motif and ankyrin repeat domain-containing protein 1		PRO_0000066911
Regions
	Repeat	1161 – 1191	31	ANK 1
	Repeat	1195 – 1228	34	ANK 2
	Repeat	1233 – 1262	30	ANK 3
	Repeat	1266 – 1298	33	ANK 4
	Repeat	1300 – 1329	30	ANK 5
	Coiled coil	258 – 316	59	Potential
	Coiled coil	361 – 395	35	Potential
	Coiled coil	446 – 500	55	Potential
Amino acid modifications
	Modified residue	325	1	Phosphoserine Ref.7
Natural variations
	Natural variant	206	1	N → K. Ref.4 Corresponds to variant rs17857145 [ dbSNP | Ensembl ].		VAR_026212
	Natural variant	210	1	H → Q. Corresponds to variant rs28374506 [ dbSNP | Ensembl ].		VAR_048298
	Natural variant	321	1	K → R. Corresponds to variant rs17857159 [ dbSNP | Ensembl ].		VAR_048299
	Natural variant	432	1	E → Q. Ref.3 Ref.4 Corresponds to variant rs4465020 [ dbSNP | Ensembl ].		VAR_026213
	Natural variant	464	1	S → A. Ref.1 Corresponds to variant rs912174 [ dbSNP | Ensembl ].		VAR_016697
	Natural variant	664	1	A → V. Corresponds to variant rs3824421 [ dbSNP | Ensembl ].		VAR_048300
	Natural variant	667	1	R → H. Corresponds to variant rs3824420 [ dbSNP | Ensembl ].		VAR_048301
	Natural variant	901	1	N → S. Corresponds to variant rs12352313 [ dbSNP | Ensembl ].		VAR_048302
	Natural variant	1055	1	I → T. Corresponds to variant rs34832656 [ dbSNP | Ensembl ].		VAR_048303

Sequences

	Sequence		Length	Mass (Da)
	Q14678 [UniParc]. Last modified August 30, 2005. Version 3. Checksum: 0C3993143391363B	FASTA	1,352	147,289
	10 20 30 40 50 60 MAHTTKVNGS ASGKAGDILS GDQDKEQKDP YFVETPYGYQ LDLDFLKYVD DIQKGNTIKR 70 80 90 100 110 120 LNIQKRRKPS VPCPEPRTTS GQQGIWTSTE SLSSSNSDDN KQCPNFLIAR SQVTSTPISK 130 140 150 160 170 180 PPPPLETSLP FLTIPENRQL PPPSPQLPKH NLHVTKTLME TRRRLEQERA TMQMTPGEFR 190 200 210 220 230 240 RPRLASFGGM GTTSSLPSFV GSGNHNPAKH QLQNGYQGNG DYGSYAPAAP TTSSMGSSIR 250 260 270 280 290 300 HSPLSSGIST PVTNVSPMHL QHIREQMAIA LKRLKELEEQ VRTIPVLQVK ISVLQEEKRQ 310 320 330 340 350 360 LVSQLKNQRA ASQINVCGVR KRSYSAGNAS QLEQLSRARR SGGELYIDYE EEEMETVEQS 370 380 390 400 410 420 TQRIKEFRQL TADMQALEQK IQDSSCEASS ELRENGECRS VAVGAEENMN DIVVYHRGSR 430 440 450 460 470 480 SCKDAAVGTL VEMRNCGVSV TEAMLGVMTE ADKEIELQQQ TIESLKEKIY RLEVQLRETT 490 500 510 520 530 540 HDREMTKLKQ ELQAAGSRKK VDKATMAQPL VFSKVVEAVV QTRDQMVGSH MDLVDTCVGT 550 560 570 580 590 600 SVETNSVGIS CQPECKNKVV GPELPMNWWI VKERVEMHDR CAGRSVEMCD KSVSVEVSVC 610 620 630 640 650 660 ETGSNTEESV NDLTLLKTNL NLKEVRSIGC GDCSVDVTVC SPKECASRGV NTEAVSQVEA 670 680 690 700 710 720 AVMAVPRTAD QDTSTDLEQV HQFTNTETAT LIESCTNTCL STLDKQTSTQ TVETRTVAVG 730 740 750 760 770 780 EGRVKDINSS TKTRSIGVGT LLSGHSGFDR PSAVKTKESG VGQININDNY LVGLKMRTIA 790 800 810 820 830 840 CGPPQLTVGL TASRRSVGVG DDPVGESLEN PQPQAPLGMM TGLDHYIERI QKLLAEQQTL 850 860 870 880 890 900 LAENYSELAE AFGEPHSQMG SLNSQLISTL SSINSVMKSA STEELRNPDF QKTSLGKITG 910 920 930 940 950 960 NYLGYTCKCG GLQSGSPLSS QTSQPEQEVG TSEGKPISSL DAFPTQEGTL SPVNLTDDQI 970 980 990 1000 1010 1020 AAGLYACTNN ESTLKSIMKK KDGNKDSNGA KKNLQFVGIN GGYETTSSDD SSSDESSSSE 1030 1040 1050 1060 1070 1080 SDDECDVIEY PLEEEEEEED EDTRGMAEGH HAVNIEGLKS ARVEDEMQVQ ECEPEKVEIR 1090 1100 1110 1120 1130 1140 ERYELSEKML SACNLLKNTI NDPKALTSKD MRFCLNTLQH EWFRVSSQKS AIPAMVGDYI 1150 1160 1170 1180 1190 1200 AAFEAISPDV LRYVINLADG NGNTALHYSV SHSNFEIVKL LLDADVCNVD HQNKAGYTPI 1210 1220 1230 1240 1250 1260 MLAALAAVEA EKDMRIVEEL FGCGDVNAKA SQAGQTALML AVSHGRIDMV KGLLACGADV 1270 1280 1290 1300 1310 1320 NIQDDEGSTA LMCASEHGHV EIVKLLLAQP GCNGHLEDND GSTALSIALE AGHKDIAVLL 1330 1340 1350 YAHVNFAKAQ SPGTPRLGRK TSPGPTHRGS FD

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Prediction of the coding sequences of unidentified human genes. V. The coding sequences of 40 new genes (KIAA0161-KIAA0200) deduced by analysis of cDNA clones from human cell line KG-1." Nagase T., Seki N., Ishikawa K., Tanaka A., Nomura N. DNA Res. 3:17-24(1996) [PubMed: 8724849] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT ALA-464. Tissue: Bone marrow.
[2]	"DNA sequence and analysis of human chromosome 9." Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L., Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R., Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S., Bagguley C.L. , Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E., Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M., Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J., Frankish A., Frankland J.A., French L., Fricker D.G., Garner P., Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S., Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E., Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D., Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E., Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K., Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J., Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E., McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V., Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S., Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K., Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J., Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L., Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M., Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J., Dunham I. Nature 429:369-374(2004) [PubMed: 15164053] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]	Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANT GLN-432.
[4]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANTS LYS-206 AND GLN-432. Tissue: Testis.
[5]	"A novel ankyrin repeat-containing gene (Kank) located at 9p24 is a growth suppressor of renal cell carcinoma." Sarkar S., Roy B.C., Hatano N., Aoyagi T., Gohji K., Kiyama R. J. Biol. Chem. 277:36585-36591(2002) [PubMed: 12133830] [Abstract] Cited for: PUTATIVE FUNCTION, SUBCELLULAR LOCATION.
[6]	"Deletion of the ANKRD15 gene at 9p24.3 causes parent-of-origin-dependent inheritance of familial cerebral palsy." Lerer I., Sagi M., Meiner V., Cohen T., Zlotogora J., Abeliovich D. Hum. Mol. Genet. 14:3911-3920(2005) [PubMed: 16301218] [Abstract] Cited for: INVOLVEMENT IN CPSQ2.
[7]	"Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions." Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K. Sci. Signal. 2:RA46-RA46(2009) [PubMed: 19690332] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-325, MASS SPECTROMETRY. Tissue: Leukemic T-cell.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	D79994 mRNA. Translation: BAA11489.2. Different initiation. AL136979 Genomic DNA. Translation: CAH70388.1. CH471071 Genomic DNA. Translation: EAW58821.1. CH471071 Genomic DNA. Translation: EAW58822.1. BC037495 mRNA. Translation: AAH37495.1.
IPI	IPI00339320.
RefSeq	NP_055973.2. NM_015158.2.
UniGene	Hs.306764.
3D structure databases
ProteinModelPortal	Q14678.
SMR	Q14678. Positions 1158-1324.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q14678. 1 interaction.
STRING	Q14678.
PTM databases
PhosphoSite	Q14678.
Polymorphism databases
DMDM	73920184.
Proteomic databases
PRIDE	Q14678.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000382297; ENSP00000371734; ENSG00000107104. ENST00000382303; ENSP00000371740; ENSG00000107104.
GeneID	23189.
KEGG	hsa:23189.
UCSC	uc003zgl.1. human.
Organism-specific databases
CTD	23189.
GeneCards	GC09P000461.
HGNC	HGNC:19309. KANK1.
HPA	HPA005539.
MIM	607704. gene. 612900. phenotype.
neXtProt	NX_Q14678.
Orphanet	91498. Familial congenital palsy of trochlear nerve.
HUGE	Search...
GenAtlas	Search...
Phylogenomic databases
HOGENOM	HBG446458.
HOVERGEN	HBG050511.
InParanoid	Q14678.
OMA	ESVEQST.
OrthoDB	EOG49P9ZW.
Gene expression databases
ArrayExpress	Q14678.
Bgee	Q14678.
CleanEx	HS_KANK1.
Genevestigator	Q14678.
GermOnline	ENSG00000107104. Homo sapiens.
Family and domain databases
InterPro	IPR002110. Ankyrin_rpt. IPR020683. Ankyrin_rpt-contain_dom. IPR021939. KN_motif. [Graphical view]
Gene3D	G3DSA:1.25.40.20. ANK. 1 hit.
Pfam	PF00023. Ank. 3 hits. PF12075. KN_motif. 1 hit. [Graphical view]
SMART	SM00248. ANK. 6 hits. [Graphical view]
SUPFAM	SSF48403. ANK. 1 hit.
PROSITE	PS50297. ANK_REP_REGION. 1 hit. PS50088. ANK_REPEAT. 3 hits. [Graphical view]
ProtoNet	Search...
Other
NextBio	44663.
SOURCE	Search...

Entry information

Entry name

KANK1_HUMAN

Accession

Primary (citable) accession number: Q14678
Secondary accession number(s): D3DRH3 , Q5W0W0, Q8IY65, Q8WX74

Entry history

Integrated into UniProtKB/Swiss-Prot:	August 29, 2003
Last sequence update:	August 30, 2005
Last modified:	December 14, 2011
This is version 95 of the entry and version 3 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.