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Protein

Centrosomal protein of 104 kDa

Gene

CEP104

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

Functioni

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

GO - Molecular functioni

Names & Taxonomyi

Protein namesi
Recommended name:
Centrosomal protein of 104 kDa
Short name:
Cep104
Gene namesi
Name:CEP104
Synonyms:KIAA0562
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

EuPathDBiHostDB:ENSG00000116198.12
HGNCiHGNC:24866 CEP104
MIMi616690 gene
neXtProtiNX_O60308

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

Keywords - Cellular componenti

Cell projection, Cytoplasm, Cytoskeleton

Pathology & Biotechi

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

DisGeNETi9731
MalaCardsiCEP104
MIMi616781 phenotype
OpenTargetsiENSG00000116198
PharmGKBiPA144596418

Polymorphism and mutation databases

BioMutaiCEP104

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000507631 – 925Centrosomal protein of 104 kDaAdd BLAST925

Proteomic databases

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

PTM databases

iPTMnetiO60308
PhosphoSitePlusiO60308

Expressioni

Gene expression databases

BgeeiENSG00000116198
CleanExiHS_KIAA0562
ExpressionAtlasiO60308 baseline and differential
GenevisibleiO60308 HS

Organism-specific databases

HPAiHPA010126

Interactioni

Subunit structurei

Interacts with CCP110 and CEP97.1 Publication

Binary interactionsi

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

Protein-protein interaction databases

BioGridi115080, 73 interactors
IntActiO60308, 74 interactors
STRINGi9606.ENSP00000367476

Structurei

Secondary structure

1925
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi422 – 427Combined sources6
Helixi429 – 435Combined sources7
Helixi437 – 444Combined sources8
Helixi448 – 464Combined sources17
Helixi471 – 488Combined sources18
Helixi494 – 509Combined sources16
Helixi511 – 514Combined sources4
Helixi519 – 535Combined sources17
Helixi536 – 538Combined sources3
Helixi542 – 557Combined sources16
Helixi559 – 562Combined sources4
Turni563 – 565Combined sources3
Helixi566 – 571Combined sources6
Helixi581 – 598Combined sources18
Beta strandi600 – 604Combined sources5
Helixi607 – 617Combined sources11
Helixi623 – 640Combined sources18
Helixi641 – 647Combined sources7
Helixi655 – 657Combined sources3
Helixi659 – 671Combined sources13
Turni747 – 750Combined sources4
Beta strandi751 – 753Combined sources3
Turni755 – 757Combined sources3
Helixi768 – 775Combined sources8
Beta strandi780 – 782Combined sources3
Turni784 – 786Combined sources3
Beta strandi789 – 791Combined sources3
Helixi792 – 794Combined sources3
Helixi795 – 801Combined sources7
Helixi806 – 808Combined sources3
Beta strandi809 – 811Combined sources3
Turni813 – 815Combined sources3
Beta strandi818 – 820Combined sources3
Helixi821 – 823Combined sources3
Helixi824 – 830Combined sources7
Turni839 – 841Combined sources3
Turni846 – 848Combined sources3
Helixi856 – 864Combined sources9

3D structure databases

ProteinModelPortaliO60308
SMRiO60308
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati529 – 567HEAT 1Add BLAST39
Repeati604 – 640HEAT 2Add BLAST37

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili209 – 289Sequence analysisAdd BLAST81
Coiled coili677 – 725Sequence analysisAdd BLAST49

Keywords - Domaini

Coiled coil, Repeat

Phylogenomic databases

eggNOGiKOG4825 Eukaryota
ENOG410XPYD LUCA
GeneTreeiENSGT00390000013405
HOVERGENiHBG080375
InParanoidiO60308
KOiK16458
OMAiVQKERYD
OrthoDBiEOG091G06XY
PhylomeDBiO60308
TreeFamiTF323766

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

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

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
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

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
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
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
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:
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

Genome annotation databases

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

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiCE104_HUMAN
AccessioniPrimary (citable) accession number: O60308
Secondary accession number(s): A0A024R4G3
, Q5JSQ3, Q5SR24, Q5SR25, Q6PKF5, Q86W32, Q86X14
Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 23, 2002
Last sequence update: August 1, 1998
Last modified: June 20, 2018
This is version 134 of the entry and version 1 of the sequence. See 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

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 1
    Human chromosome 1: 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
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references

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