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Protein

Centrosomal protein of 104 kDa

Gene

CEP104

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

Required for ciliogenesis and for structural integrity at the ciliary tip.1 Publication

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

<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:
Centrosomal protein of 104 kDa
Short name:
Cep104
<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
Name:CEP104
Synonyms:KIAA0562
<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 1

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000116198.12

Human Gene Nomenclature Database

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HGNCi
HGNC:24866 CEP104

Online Mendelian Inheritance in Man (OMIM)

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MIMi
616690 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_O60308

<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; 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 25 (JBTS25)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. JBTS25 clinical manifestations appear to be confined to the neurologic system. JBTS25 inheritance is autosomal recessive.
See also OMIM:616781

Keywords - Diseasei

Ciliopathy, Joubert syndrome

Organism-specific databases

DisGeNET

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DisGeNETi
9731

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

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GeneReviewsi
CEP104

MalaCards human disease database

More...
MalaCardsi
CEP104
MIMi616781 phenotype

Open Targets

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OpenTargetsi
ENSG00000116198

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
PA144596418

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
CEP104

<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_00000507631 – 925Centrosomal protein of 104 kDaAdd BLAST925

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
O60308

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
O60308

MaxQB - The MaxQuant DataBase

More...
MaxQBi
O60308

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

More...
PaxDbi
O60308

PeptideAtlas

More...
PeptideAtlasi
O60308

PRoteomics IDEntifications database

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PRIDEi
O60308

ProteomicsDB human proteome resource

More...
ProteomicsDBi
49335
49336 [O60308-2]
49337 [O60308-3]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
O60308

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

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PhosphoSitePlusi
O60308

<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

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Bgeei
ENSG00000116198 Expressed in 226 organ(s), highest expression level in testis

CleanEx database of gene expression profiles

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CleanExi
HS_KIAA0562

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
O60308 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
O60308 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA010126

<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 CCP110 and CEP97.1 Publication

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

WithEntry#Exp.IntActNotes
SF1Q156374EBI-2685240,EBI-744603

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
115080, 73 interactors

Protein interaction database and analysis system

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IntActi
O60308, 74 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000367476

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1925
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Select the link destinations:

Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
5LPHX-ray2.25A/B392-676[»]
5LPIX-ray1.80A/B/C/D746-875[»]

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...
ProteinModelPortali
O60308

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
O60308

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<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

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section indicates the positions and types of repeated sequence motifs or repeated domains within the protein.<p><a href='/help/repeat' target='_top'>More...</a></p>Repeati529 – 567HEAT 1Add BLAST39
Repeati604 – 640HEAT 2Add BLAST37

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 coili209 – 289Sequence analysisAdd BLAST81
Coiled coili677 – 725Sequence analysisAdd BLAST49

Keywords - Domaini

Coiled coil, Repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG4825 Eukaryota
ENOG410XPYD LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00390000013405

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG080375

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
O60308

KEGG Orthology (KO)

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KOi
K16458

Identification of Orthologs from Complete Genome Data

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OMAi
QECQGNA

Database of Orthologous Groups

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OrthoDBi
242784at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
O60308

TreeFam database of animal gene trees

More...
TreeFami
TF323766

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
1.25.10.10, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR011989 ARM-like
IPR016024 ARM-type_fold
IPR008979 Galactose-bd-like_sf
IPR034085 TOG

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM01349 TOG, 1 hit

Superfamily database of structural and functional annotation

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SUPFAMi
SSF48371 SSF48371, 1 hit
SSF49785 SSF49785, 1 hit

<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>Sequences (3+)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 describes 3 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 4 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: O60308-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MPHKIGFVVV SSSGHEDGFS ARELMIHAPT VSGWRSPRFC QFPQEIVLQM
60 70 80 90 100
VERCRIRKLQ LLAHQYMISS KIEFYISESL PEYFAPYQAE RFRRLGYVSL
110 120 130 140 150
CDNEKTGCKA RELKSVYVDA VGQFLKLIFH QNHVNKYNIY NQVALVAINI
160 170 180 190 200
IGDPADFSDE SNTASREKLI DHYLGHNSED PALEGTYARK SDYISPLDDL
210 220 230 240 250
AFDMYQDPEV AQIIRKLDER KREAVQKERY DYAKKLKQAI ADLQKVGERL
260 270 280 290 300
GRYEVEKRCA VEKEDYDLAK EKKQQMEQYR AEVYEQLELH SLLDAELMRR
310 320 330 340 350
PFDLPLQPLA RSGSPCHQKP MPSLPQLEER GTENQFAEPF LQEKPSSYSL
360 370 380 390 400
TISPQHSAVD PLLPATDPHP KINAESLPYD ERPLPAIRKH YGEAVVEPEM
410 420 430 440 450
SNADISDARR GGMLGEPEPL TEKALREASS AIDVLGETLV AEAYCKTWSY
460 470 480 490 500
REDALLALSK KLMEMPVGTP KEDLKNTLRA SVFLVRRAIK DIVTSVFQAS
510 520 530 540 550
LKLLKMIITQ YIPKHKLSKL ETAHCVERTI PVLLTRTGDS SARLRVTAAN
560 570 580 590 600
FIQEMALFKE VKSLQIIPSY LVQPLKANSS VHLAMSQMGL LARLLKDLGT
610 620 630 640 650
GSSGFTIDNV MKFSVSALEH RVYEVRETAV RIILDMYRQH QASILEYLPP
660 670 680 690 700
DDSNTRRNIL YKTIFEGFAK IDGRATDAEM RARRKAATEE AEKQKKEEIK
710 720 730 740 750
ALQGQLAALK EIQAEVQEKE SDAVKPKNQD IQGGKAAPAE ALGIPDEHYL
760 770 780 790 800
DNLCIFCGER SESFTEEGLD LHYWKHCLML TRCDHCKQVV EISSLTEHLL
810 820 830 840 850
TECDKKDGFG KCYRCSEAVF KEELPRHIKH KDCNPAKPEK LANRCPLCHE
860 870 880 890 900
NFSPGEEAWK AHLMGPAGCT MNLRKTHILQ KAPALQPGKS SAVAASGPLG
910 920
SKAGSKIPTP KGGLSKSSSR TYAKR
Length:925
Mass (Da):104,448
Last modified:August 1, 1998 - v1
<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:i6B2BBD5068136887
GO
Isoform 2 (identifier: O60308-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     189-244: RKSDYISPLD...KLKQAIADLQ → SSVRTGGEST...EGTPFQRCLV
     245-925: Missing.

Note: No experimental confirmation available.
Show »
Length:244
Mass (Da):27,350
Checksum:i91F314638FBB292C
GO
Isoform 3 (identifier: O60308-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     554-554: E → V
     555-925: Missing.

Note: No experimental confirmation available.
Show »
Length:554
Mass (Da):63,187
Checksum:i45407773F3D60E53
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 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
J3QLL3J3QLL3_HUMAN
Centrosomal protein of 104 kDa
CEP104
185Annotation 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>
H7C0J5H7C0J5_HUMAN
Centrosomal protein of 104 kDa
CEP104
190Annotation 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>
Q5SR27Q5SR27_HUMAN
Centrosomal protein of 104 kDa
CEP104
199Annotation 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>
Q5SR26Q5SR26_HUMAN
Centrosomal protein of 104 kDa
CEP104
143Annotation 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 AAH01640 differs from that shown. Contaminating sequence. Potential poly-A sequence.Curated
The sequence BAA25488 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti51V → L in AAH01640 (PubMed:15489334).Curated1
Sequence conflicti266Y → F in AAH47450 (PubMed:15489334).Curated1
Sequence conflicti383P → S in AAH47450 (PubMed:15489334).Curated1

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_034036414L → I. Corresponds to variant dbSNP:rs2275824Ensembl.1
Natural variantiVAR_020042686A → V. Corresponds to variant dbSNP:rs2275831Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_014364189 – 244RKSDY…IADLQ → SSVRTGGESTFGELKGPAVP SSVTLSVLGTSLGQWFPCHL PAVDDNEGTPFQRCLV in isoform 2. 1 PublicationAdd BLAST56
Alternative sequenceiVSP_014365245 – 925Missing in isoform 2. 1 PublicationAdd BLAST681
Alternative sequenceiVSP_014366554E → V in isoform 3. 1 Publication1
Alternative sequenceiVSP_014367555 – 925Missing in isoform 3. 1 PublicationAdd BLAST371

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
AB011134 mRNA Translation: BAA25488.2 Different initiation.
AL365330 Genomic DNA No translation available.
AL691523 Genomic DNA No translation available.
CH471130 Genomic DNA Translation: EAW71483.1
CH471130 Genomic DNA Translation: EAW71484.1
BC001640 mRNA Translation: AAH01640.1 Sequence problems.
BC047450 mRNA Translation: AAH47450.1
BC050721 mRNA Translation: AAH50721.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS30571.1 [O60308-1]

Protein sequence database of the Protein Information Resource

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PIRi
T00334

NCBI Reference Sequences

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RefSeqi
NP_055519.1, NM_014704.3 [O60308-1]

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.133089
Hs.509017

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000378223; ENSP00000367468; ENSG00000116198 [O60308-2]
ENST00000378230; ENSP00000367476; ENSG00000116198 [O60308-1]

Database of genes from NCBI RefSeq genomes

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GeneIDi
9731

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:9731

UCSC genome browser

More...
UCSCi
uc001aky.3 human [O60308-1]

Keywords - Coding sequence diversityi

Alternative splicing, 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
AB011134 mRNA Translation: BAA25488.2 Different initiation.
AL365330 Genomic DNA No translation available.
AL691523 Genomic DNA No translation available.
CH471130 Genomic DNA Translation: EAW71483.1
CH471130 Genomic DNA Translation: EAW71484.1
BC001640 mRNA Translation: AAH01640.1 Sequence problems.
BC047450 mRNA Translation: AAH47450.1
BC050721 mRNA Translation: AAH50721.1
CCDSiCCDS30571.1 [O60308-1]
PIRiT00334
RefSeqiNP_055519.1, NM_014704.3 [O60308-1]
UniGeneiHs.133089
Hs.509017

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
5LPHX-ray2.25A/B392-676[»]
5LPIX-ray1.80A/B/C/D746-875[»]
ProteinModelPortaliO60308
SMRiO60308
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi115080, 73 interactors
IntActiO60308, 74 interactors
STRINGi9606.ENSP00000367476

PTM databases

iPTMnetiO60308
PhosphoSitePlusiO60308

Polymorphism and mutation databases

BioMutaiCEP104

Proteomic databases

EPDiO60308
jPOSTiO60308
MaxQBiO60308
PaxDbiO60308
PeptideAtlasiO60308
PRIDEiO60308
ProteomicsDBi49335
49336 [O60308-2]
49337 [O60308-3]

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
9731
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000378223; ENSP00000367468; ENSG00000116198 [O60308-2]
ENST00000378230; ENSP00000367476; ENSG00000116198 [O60308-1]
GeneIDi9731
KEGGihsa:9731
UCSCiuc001aky.3 human [O60308-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
9731
DisGeNETi9731
EuPathDBiHostDB:ENSG00000116198.12

GeneCards: human genes, protein and diseases

More...
GeneCardsi
CEP104
GeneReviewsiCEP104

H-Invitational Database, human transcriptome db

More...
H-InvDBi
HIX0018005
HGNCiHGNC:24866 CEP104
HPAiHPA010126
MalaCardsiCEP104
MIMi616690 gene
616781 phenotype
neXtProtiNX_O60308
OpenTargetsiENSG00000116198
Orphaneti475 Joubert syndrome
PharmGKBiPA144596418

Human Unidentified Gene-Encoded large proteins database

More...
HUGEi
Search...

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG4825 Eukaryota
ENOG410XPYD LUCA
GeneTreeiENSGT00390000013405
HOVERGENiHBG080375
InParanoidiO60308
KOiK16458
OMAiQECQGNA
OrthoDBi242784at2759
PhylomeDBiO60308
TreeFamiTF323766

Miscellaneous databases

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

More...
ChiTaRSi
CEP104 human

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

More...
GenomeRNAii
9731

Protein Ontology

More...
PROi
PR:O60308

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000116198 Expressed in 226 organ(s), highest expression level in testis
CleanExiHS_KIAA0562
ExpressionAtlasiO60308 baseline and differential
GenevisibleiO60308 HS

Family and domain databases

Gene3Di1.25.10.10, 1 hit
InterProiView protein in InterPro
IPR011989 ARM-like
IPR016024 ARM-type_fold
IPR008979 Galactose-bd-like_sf
IPR034085 TOG
SMARTiView protein in SMART
SM01349 TOG, 1 hit
SUPFAMiSSF48371 SSF48371, 1 hit
SSF49785 SSF49785, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

<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 nameiCE104_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: O60308
Secondary accession number(s): A0A024R4G3
, Q5JSQ3, Q5SR24, Q5SR25, Q6PKF5, Q86W32, Q86X14
<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 23, 2002
Last sequence update: August 1, 1998
Last modified: January 16, 2019
This is version 138 of the entry and version 1 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

3D-structure, Complete proteome, Reference proteome

Documents

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