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Protein

Protein KIAA0556

Gene

KIAA0556

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

May influence the stability of microtubules (MT), possibly through interaction with the MT-severing katanin complex.1 Publication

Names & Taxonomyi

Protein namesi
Recommended name:
Protein KIAA0556
Gene namesi
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 16

Organism-specific databases

HGNCiHGNC:29068. KIAA0556.

Subcellular locationi

GO - Cellular componenti

  • cell projection Source: UniProtKB-KW
  • cytoplasm Source: UniProtKB-KW
  • cytoskeleton Source: UniProtKB-SubCell
  • extracellular space Source: UniProtKB
  • nucleoplasm Source: HPA
  • nucleus Source: HPA
  • plasma membrane Source: HPA
Complete GO annotation...

Keywords - Cellular componenti

Cell projection, Cytoplasm, Cytoskeleton

Pathology & Biotechi

Involvement in diseasei

Joubert syndrome 26 (JBTS26)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of Joubert syndrome, a disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy, renal disease, liver fibrosis, and polydactyly. JBTS26 inheritance is autosomal recessive.
See also OMIM:616784

Keywords - Diseasei

Ciliopathy, Joubert syndrome

Organism-specific databases

MIMi616784. phenotype.
PharmGKBiPA162392880.

Polymorphism and mutation databases

BioMutaiKIAA0556.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 16181618Protein KIAA0556PRO_0000313090Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei453 – 4531PhosphoserineCombined sources
Modified residuei660 – 6601PhosphoserineCombined sources
Modified residuei691 – 6911PhosphoserineCombined sources

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiO60303.
MaxQBiO60303.
PaxDbiO60303.
PeptideAtlasiO60303.
PRIDEiO60303.

PTM databases

iPTMnetiO60303.
PhosphoSiteiO60303.

Expressioni

Gene expression databases

BgeeiO60303.
CleanExiHS_KIAA0556.
ExpressionAtlasiO60303. baseline and differential.
GenevisibleiO60303. HS.

Organism-specific databases

HPAiHPA035089.
HPA035090.

Interactioni

Subunit structurei

Interacts with microtubules. Interacts with 4 subunits of the katanin complex: KATNA1, KATNAL1, KATNB1 and KATNBL1.1 Publication

Protein-protein interaction databases

BioGridi116851. 5 interactions.
IntActiO60303. 7 interactions.
STRINGi9606.ENSP00000261588.

Structurei

3D structure databases

ProteinModelPortaliO60303.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili613 – 64331Sequence analysisAdd
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi1614 – 16174Poly-Arg

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiENOG410IFZD. Eukaryota.
ENOG410XR37. LUCA.
GeneTreeiENSGT00390000004566.
HOGENOMiHOG000113151.
HOVERGENiHBG108017.
InParanoidiO60303.
OMAiCHQEKHT.
OrthoDBiEOG7T7GST.
PhylomeDBiO60303.
TreeFamiTF314150.

Family and domain databases

InterProiIPR027859. DUF4457.
IPR026704. KIAA0556.
[Graphical view]
PANTHERiPTHR21534. PTHR21534. 1 hit.
PfamiPF14652. DUF4457. 3 hits.
[Graphical view]

Sequencei

Sequence statusi: Complete.

O60303-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MDGQTLRKAE RSWSCSREKK EGYAKDMVTD FDEKHDEYLI LLQQRNRILK
60 70 80 90 100
HLKSKDPVQL RLEHLEQGFS VYVNGANSEL KSSPRKAIHS DFSRSASHTE
110 120 130 140 150
GTHDYGRRTL FREAEEALRR SSRTAPSKVQ RRGWHQKSVQ IRTEAGPRLH
160 170 180 190 200
IEPPVDYSDD FELCGDVTLQ ANNTSEDRPQ ELRRSLELSV NLQRKQKDCS
210 220 230 240 250
SDEYDSIEED ILSEPEPEDP ALVGHPRHDR PPSSGDWTQK DVHGEQETEG
260 270 280 290 300
RSSPGPDTLV VLEFNPASKS HKRERNLSAK RKDNAEVFVP TKPEPNLTPQ
310 320 330 340 350
APAVFPDQER MCSRPGSRRE RPLSATRKTL CEAEYPEEDA SAVLQAIQVE
360 370 380 390 400
NAALQRALLS RKAEQPASPL QDAEGPPAKP WTSLLEEKEE TLELLPITTA
410 420 430 440 450
TTTQEPAGAA GGARAINQAM DRIGLLGSRQ QQKLLKVLQA VESDSAHLGR
460 470 480 490 500
VVSPTKEQVS DTEDKQRMRA DEIKDAIYVT MEILSNWGNS WWVGLTEVEF
510 520 530 540 550
FDLNDTKLYV SPHDVDIRNT ATPGELGRLV NRNLAGKKDS SPWTCPFHPP
560 570 580 590 600
LQLFFVIRNT RQLGDFHLAK IKVRNYWTAD GDLDIGAKNV KLYVNRNLIF
610 620 630 640 650
NGKLDKGDRE APADHSILVD QKNEKSEQLE EAMNAHSEES KGTHEMAGAS
660 670 680 690 700
GDKELGLGCS PPAETLADAK LSSQGNVSGK RKNSTNCRKD SLSQLEEYLR
710 720 730 740 750
LSAVPTSMGD MPSAPATSPP VKCPPVHEEP SLIQQLENLM GRKICEPPGK
760 770 780 790 800
TPSWLQPSPT GKDRKQGGRK PKPLWLSPEK PLAWKGRLPS DDVIGEGPGE
810 820 830 840 850
TEARDKGLRH EPGWGTSRSV NTKERPQRAT TKVHSDDSDI FNQPPNRERP
860 870 880 890 900
ASGRRGSRKD AGSSSHGDDQ PASREDTWSS RTPSRSRWRS EQEHTLHESW
910 920 930 940 950
SSLSAFDRSH RGRISNTELP GDILDELLQQ KSSRHSDLPP SKKGEQPGLS
960 970 980 990 1000
RGQDGYSGET DAGGDFKIPV LPYGQRLVID IKSTWGDRHY VGLNGIEIFS
1010 1020 1030 1040 1050
SKGEPVQISN IKADPPDINI LPAYGKDPRV VTNLIDGVNR TQDDMHVWLA
1060 1070 1080 1090 1100
PFTRGRSHSI TIDFTHPCHV ALIRIWNYNK SRIHSFRGVK DITMLLDTQC
1110 1120 1130 1140 1150
IFEGEIAKAS GTLAGAPEHF GDTILFTTDD DILEAIFYSD EMFDLDVGSL
1160 1170 1180 1190 1200
DSLQDEEAMR RPSTADGEGD ERPFTQAGLG ADERIPELEL PSSSPVPQVT
1210 1220 1230 1240 1250
TPEPGIYHGI CLQLNFTASW GDLHYLGLTG LEVVGKEGQA LPIHLHQISA
1260 1270 1280 1290 1300
SPRDLNELPE YSDDSRALDK LIDGTNITME DEHMWLIPFS PGLDHVVTIR
1310 1320 1330 1340 1350
LDRAESIAGL RFWNYNKSPE DTYRGAKIVH VSLDGLCVSP PEGFLIRKGP
1360 1370 1380 1390 1400
GNCHFDFAQE ILFVDYLRAQ LLPQPARRLD MRSLECASMD YEAPLMPCGF
1410 1420 1430 1440 1450
IFQFQLLTSW GDPYYIGLTG LELYDERGEK IPLSENNIAA FPDSVNSLEG
1460 1470 1480 1490 1500
VGGDVRTPDK LIDQVNDTSD GRHMWLAPIL PGLVNRVYVI FDLPTTVSMI
1510 1520 1530 1540 1550
KLWNYAKTPH RGVKEFGLLV DDLLVYNGIL AMVSHLVGGI LPTCEPTVPY
1560 1570 1580 1590 1600
HTILFTEDRD IRHQEKHTTI SNQAEDQDVQ MMNENQIITN AKRKQSVVDP
1610
ALRPKTCISE KETRRRRC
Length:1,618
Mass (Da):180,918
Last modified:November 24, 2009 - v4
Checksum:iB0E22A6B3D2F5E18
GO

Sequence cautioni

The sequence BAA25482.2 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti522 – 5221T → M.
Corresponds to variant rs12930355 [ dbSNP | Ensembl ].
VAR_037654
Natural varianti535 – 5351A → S.
Corresponds to variant rs11643103 [ dbSNP | Ensembl ].
VAR_037655
Natural varianti885 – 8851R → Q.
Corresponds to variant rs16976970 [ dbSNP | Ensembl ].
VAR_037656
Natural varianti1240 – 12401A → V.
Corresponds to variant rs55953014 [ dbSNP | Ensembl ].
VAR_061238
Natural varianti1267 – 12671A → T.2 Publications
Corresponds to variant rs4787984 [ dbSNP | Ensembl ].
VAR_037657
Natural varianti1368 – 13681R → Q.
Corresponds to variant rs11644502 [ dbSNP | Ensembl ].
VAR_037658
Natural varianti1597 – 15971V → I.
Corresponds to variant rs2287790 [ dbSNP | Ensembl ].
VAR_037659

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB011128 mRNA. Translation: BAA25482.2. Different initiation.
AC002551 Genomic DNA. No translation available.
AC008732 Genomic DNA. No translation available.
AC016597 Genomic DNA. No translation available.
AC025275 Genomic DNA. No translation available.
AC092330 Genomic DNA. No translation available.
BC150276 mRNA. Translation: AAI50277.1.
CCDSiCCDS32415.1.
PIRiT00330.
RefSeqiNP_056017.3. NM_015202.3.
UniGeneiHs.460459.

Genome annotation databases

EnsembliENST00000261588; ENSP00000261588; ENSG00000047578.
GeneIDi23247.
KEGGihsa:23247.
UCSCiuc002dow.4. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB011128 mRNA. Translation: BAA25482.2. Different initiation.
AC002551 Genomic DNA. No translation available.
AC008732 Genomic DNA. No translation available.
AC016597 Genomic DNA. No translation available.
AC025275 Genomic DNA. No translation available.
AC092330 Genomic DNA. No translation available.
BC150276 mRNA. Translation: AAI50277.1.
CCDSiCCDS32415.1.
PIRiT00330.
RefSeqiNP_056017.3. NM_015202.3.
UniGeneiHs.460459.

3D structure databases

ProteinModelPortaliO60303.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi116851. 5 interactions.
IntActiO60303. 7 interactions.
STRINGi9606.ENSP00000261588.

PTM databases

iPTMnetiO60303.
PhosphoSiteiO60303.

Polymorphism and mutation databases

BioMutaiKIAA0556.

Proteomic databases

EPDiO60303.
MaxQBiO60303.
PaxDbiO60303.
PeptideAtlasiO60303.
PRIDEiO60303.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000261588; ENSP00000261588; ENSG00000047578.
GeneIDi23247.
KEGGihsa:23247.
UCSCiuc002dow.4. human.

Organism-specific databases

CTDi23247.
GeneCardsiKIAA0556.
HGNCiHGNC:29068. KIAA0556.
HPAiHPA035089.
HPA035090.
MIMi616650. gene.
616784. phenotype.
neXtProtiNX_O60303.
PharmGKBiPA162392880.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IFZD. Eukaryota.
ENOG410XR37. LUCA.
GeneTreeiENSGT00390000004566.
HOGENOMiHOG000113151.
HOVERGENiHBG108017.
InParanoidiO60303.
OMAiCHQEKHT.
OrthoDBiEOG7T7GST.
PhylomeDBiO60303.
TreeFamiTF314150.

Miscellaneous databases

ChiTaRSiKIAA0556. human.
GenomeRNAii23247.
PROiO60303.
SOURCEiSearch...

Gene expression databases

BgeeiO60303.
CleanExiHS_KIAA0556.
ExpressionAtlasiO60303. baseline and differential.
GenevisibleiO60303. HS.

Family and domain databases

InterProiIPR027859. DUF4457.
IPR026704. KIAA0556.
[Graphical view]
PANTHERiPTHR21534. PTHR21534. 1 hit.
PfamiPF14652. DUF4457. 3 hits.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro."
    Nagase T., Ishikawa K., Miyajima N., Tanaka A., Kotani H., Nomura N., Ohara O.
    DNA Res. 5:31-39(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT THR-1267.
    Tissue: Brain.
  2. "Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones."
    Nakajima D., Okazaki N., Yamakawa H., Kikuno R., Ohara O., Nagase T.
    DNA Res. 9:99-106(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: SEQUENCE REVISION.
  3. "The sequence and analysis of duplication-rich human chromosome 16."
    Martin J., Han C., Gordon L.A., Terry A., Prabhakar S., She X., Xie G., Hellsten U., Chan Y.M., Altherr M., Couronne O., Aerts A., Bajorek E., Black S., Blumer H., Branscomb E., Brown N.C., Bruno W.J.
    , Buckingham J.M., Callen D.F., Campbell C.S., Campbell M.L., Campbell E.W., Caoile C., Challacombe J.F., Chasteen L.A., Chertkov O., Chi H.C., Christensen M., Clark L.M., Cohn J.D., Denys M., Detter J.C., Dickson M., Dimitrijevic-Bussod M., Escobar J., Fawcett J.J., Flowers D., Fotopulos D., Glavina T., Gomez M., Gonzales E., Goodstein D., Goodwin L.A., Grady D.L., Grigoriev I., Groza M., Hammon N., Hawkins T., Haydu L., Hildebrand C.E., Huang W., Israni S., Jett J., Jewett P.B., Kadner K., Kimball H., Kobayashi A., Krawczyk M.-C., Leyba T., Longmire J.L., Lopez F., Lou Y., Lowry S., Ludeman T., Manohar C.F., Mark G.A., McMurray K.L., Meincke L.J., Morgan J., Moyzis R.K., Mundt M.O., Munk A.C., Nandkeshwar R.D., Pitluck S., Pollard M., Predki P., Parson-Quintana B., Ramirez L., Rash S., Retterer J., Ricke D.O., Robinson D.L., Rodriguez A., Salamov A., Saunders E.H., Scott D., Shough T., Stallings R.L., Stalvey M., Sutherland R.D., Tapia R., Tesmer J.G., Thayer N., Thompson L.S., Tice H., Torney D.C., Tran-Gyamfi M., Tsai M., Ulanovsky L.E., Ustaszewska A., Vo N., White P.S., Williams A.L., Wills P.L., Wu J.-R., Wu K., Yang J., DeJong P., Bruce D., Doggett N.A., Deaven L., Schmutz J., Grimwood J., Richardson P., Rokhsar D.S., Eichler E.E., Gilna P., Lucas S.M., Myers R.M., Rubin E.M., Pennacchio L.A.
    Nature 432:988-994(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  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] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT THR-1267.
  5. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-691, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  6. "Toward a comprehensive characterization of a human cancer cell phosphoproteome."
    Zhou H., Di Palma S., Preisinger C., Peng M., Polat A.N., Heck A.J., Mohammed S.
    J. Proteome Res. 12:260-271(2013) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-453 AND SER-660, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma and Erythroleukemia.
  7. Cited for: INVOLVEMENT IN JBTS26, FUNCTION, SUBCELLULAR LOCATION, INTERACTION WITH IFT172; KATNA1; KATNAL1; KATNB1; KATNBL1 AND MICROTUBULES.

Entry informationi

Entry nameiK0556_HUMAN
AccessioniPrimary (citable) accession number: O60303
Secondary accession number(s): A7E2C2
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 15, 2008
Last sequence update: November 24, 2009
Last modified: July 6, 2016
This is version 108 of the entry and version 4 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 16
    Human chromosome 16: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.