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Entry version 130 (08 May 2019)
Sequence version 4 (24 Nov 2009)
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Protein

Protein KIAA0556

Gene

KIAA0556

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

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

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Protein KIAA0556
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 16

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:29068 KIAA0556

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
616650 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_O60303

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - Cellular componenti

Cell projection, Cytoplasm, Cytoskeleton

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>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

DisGeNET

More...
DisGeNETi
23247

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...
GeneReviewsi
KIAA0556

MalaCards human disease database

More...
MalaCardsi
KIAA0556
MIMi616784 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000047578

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
475 Joubert syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA162392880

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
KIAA0556

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00003130901 – 1618Protein KIAA0556Add BLAST1618

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei453PhosphoserineCombined sources1
Modified residuei660PhosphoserineCombined sources1
Modified residuei691PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
O60303

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
O60303

MaxQB - The MaxQuant DataBase

More...
MaxQBi
O60303

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
O60303

PeptideAtlas

More...
PeptideAtlasi
O60303

PRoteomics IDEntifications database

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PRIDEi
O60303

ProteomicsDB human proteome resource

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ProteomicsDBi
49331

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
O60303

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
O60303

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000047578 Expressed in 193 organ(s), highest expression level in right uterine tube

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
O60303 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
O60303 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA035089
HPA035090

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

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

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
116851, 8 interactors

Protein interaction database and analysis system

More...
IntActi
O60303, 9 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000261588

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and domains’ section denotes the positions of regions of coiled coil within the protein.<p><a href='/help/coiled' target='_top'>More...</a></p>Coiled coili613 – 643Sequence analysisAdd BLAST31

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi1614 – 1617Poly-Arg4

Keywords - Domaini

Coiled coil

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
ENOG410IFZD Eukaryota
ENOG410XR37 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00390000004566

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000113151

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
O60303

KEGG Orthology (KO)

More...
KOi
K22858

Identification of Orthologs from Complete Genome Data

More...
OMAi
FTPGKSH

Database of Orthologous Groups

More...
OrthoDBi
361541at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
O60303

TreeFam database of animal gene trees

More...
TreeFami
TF314150

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR027859 DUF4457
IPR026704 KIAA0556

The PANTHER Classification System

More...
PANTHERi
PTHR21534 PTHR21534, 1 hit

Pfam protein domain database

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Pfami
View protein in Pfam
PF14652 DUF4457, 3 hits

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequence (1+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry has 1 described isoform and 3 potential isoforms that are computationally mapped.Show allAlign All

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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iB0E22A6B3D2F5E18
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H3BNJ6H3BNJ6_HUMAN
Protein KIAA0556
KIAA0556
249Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A087X098A0A087X098_HUMAN
Protein KIAA0556
KIAA0556
110Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H3BPM2H3BPM2_HUMAN
Protein KIAA0556
KIAA0556
55Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

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

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_037654522T → M. Corresponds to variant dbSNP:rs12930355Ensembl.1
Natural variantiVAR_037655535A → S. Corresponds to variant dbSNP:rs11643103Ensembl.1
Natural variantiVAR_037656885R → Q. Corresponds to variant dbSNP:rs16976970Ensembl.1
Natural variantiVAR_0612381240A → V. Corresponds to variant dbSNP:rs55953014Ensembl.1
Natural variantiVAR_0376571267A → T2 PublicationsCorresponds to variant dbSNP:rs4787984Ensembl.1
Natural variantiVAR_0376581368R → Q. Corresponds to variant dbSNP:rs11644502Ensembl.1
Natural variantiVAR_0376591597V → I. Corresponds to variant dbSNP:rs2287790Ensembl.1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
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

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS32415.1

Protein sequence database of the Protein Information Resource

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PIRi
T00330

NCBI Reference Sequences

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RefSeqi
NP_056017.3, NM_015202.3

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000261588; ENSP00000261588; ENSG00000047578

Database of genes from NCBI RefSeq genomes

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GeneIDi
23247

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:23247

UCSC genome browser

More...
UCSCi
uc002dow.4 human

Keywords - Coding sequence diversityi

Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>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

3D structure databases

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

SWISS-MODEL Interactive Workspace

More...
SWISS-MODEL-Workspacei
Submit a new modelling project...

Protein-protein interaction databases

BioGridi116851, 8 interactors
IntActiO60303, 9 interactors
STRINGi9606.ENSP00000261588

PTM databases

iPTMnetiO60303
PhosphoSitePlusiO60303

Polymorphism and mutation databases

BioMutaiKIAA0556

Proteomic databases

EPDiO60303
jPOSTiO60303
MaxQBiO60303
PaxDbiO60303
PeptideAtlasiO60303
PRIDEiO60303
ProteomicsDBi49331

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
23247
DisGeNETi23247

GeneCards: human genes, protein and diseases

More...
GeneCardsi
KIAA0556
GeneReviewsiKIAA0556
HGNCiHGNC:29068 KIAA0556
HPAiHPA035089
HPA035090
MalaCardsiKIAA0556
MIMi616650 gene
616784 phenotype
neXtProtiNX_O60303
OpenTargetsiENSG00000047578
Orphaneti475 Joubert syndrome
PharmGKBiPA162392880

Human Unidentified Gene-Encoded large proteins database

More...
HUGEi
Search...

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410IFZD Eukaryota
ENOG410XR37 LUCA
GeneTreeiENSGT00390000004566
HOGENOMiHOG000113151
InParanoidiO60303
KOiK22858
OMAiFTPGKSH
OrthoDBi361541at2759
PhylomeDBiO60303
TreeFamiTF314150

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
KIAA0556 human

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
23247

Protein Ontology

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PROi
PR:O60303

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
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Gene expression databases

BgeeiENSG00000047578 Expressed in 193 organ(s), highest expression level in right uterine tube
ExpressionAtlasiO60303 baseline and differential
GenevisibleiO60303 HS

Family and domain databases

InterProiView protein in InterPro
IPR027859 DUF4457
IPR026704 KIAA0556
PANTHERiPTHR21534 PTHR21534, 1 hit
PfamiView protein in Pfam
PF14652 DUF4457, 3 hits

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiK0556_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: O60303
Secondary accession number(s): A7E2C2
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 15, 2008
Last sequence update: November 24, 2009
Last modified: May 8, 2019
This is version 130 of the entry and version 4 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>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
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