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Protein

Centrosomal protein of 112 kDa

Gene

CEP112

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 3 out of 5-Experimental evidence at protein leveli

Functioni

GO - Biological processi

Complete GO annotation...

Names & Taxonomyi

Protein namesi
Recommended name:
Centrosomal protein of 112 kDa
Short name:
Cep112
Alternative name(s):
Coiled-coil domain-containing protein 46
Gene namesi
Name:CEP112
Synonyms:CCDC46
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 17

Organism-specific databases

HGNCiHGNC:28514. CEP112.

Subcellular locationi

GO - Cellular componenti

  • centrosome Source: UniProtKB
  • cytoplasm Source: UniProtKB-KW
  • inhibitory synapse Source: Ensembl
  • plasma membrane Source: Ensembl
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Cytoskeleton

Pathology & Biotechi

Organism-specific databases

DisGeNETi201134.
OpenTargetsiENSG00000154240.
PharmGKBiPA142672163.

Polymorphism and mutation databases

BioMutaiCEP112.
DMDMi97045680.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002345081 – 955Centrosomal protein of 112 kDaAdd BLAST955

Proteomic databases

EPDiQ8N8E3.
MaxQBiQ8N8E3.
PaxDbiQ8N8E3.
PeptideAtlasiQ8N8E3.
PRIDEiQ8N8E3.

PTM databases

iPTMnetiQ8N8E3.
PhosphoSitePlusiQ8N8E3.

Expressioni

Gene expression databases

BgeeiENSG00000154240.
CleanExiHS_CCDC46.
ExpressionAtlasiQ8N8E3. baseline and differential.
GenevisibleiQ8N8E3. HS.

Organism-specific databases

HPAiHPA024481.

Interactioni

Protein-protein interaction databases

BioGridi128362. 2 interactors.
IntActiQ8N8E3. 3 interactors.

Structurei

3D structure databases

ProteinModelPortaliQ8N8E3.
SMRiQ8N8E3.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili277 – 954Sequence analysisAdd BLAST678

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiENOG410IHFX. Eukaryota.
ENOG410ZK97. LUCA.
GeneTreeiENSGT00390000006544.
HOVERGENiHBG056822.
InParanoidiQ8N8E3.
KOiK16767.
OMAiNDYEQNM.
OrthoDBiEOG091G01YJ.
PhylomeDBiQ8N8E3.
TreeFamiTF328995.

Family and domain databases

InterProiIPR027831. DUF4485.
[Graphical view]
PfamiPF14846. DUF4485. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q8N8E3-1) [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
MEVGSEEEKW EKLDAEFDHF VVDMKPFVLK LPHRTERQRC ALWIRKLCEP
60 70 80 90 100
SGTGAGIMGR KNRNLYAKLL LHMLKRGALE GPFTHRPEPG TLKILPSYMS
110 120 130 140 150
IYFDEPNPAR AKGSSPEGLP AWVLGELETS EHKLNESWKL SSGEDNTLVQ
160 170 180 190 200
SPTDVYSREQ YTGKLRVRSH SLSPTHREDG QNITPKICEV YSKKSPVSLD
210 220 230 240 250
DSDIEARLNS WNLGIENPRY LRQKPIPVSL MTPKFSLRKS SSFHDDHFLS
260 270 280 290 300
RIREKELDMK TKMMEAKFHE EKLKLQQKHD ADVQKILERK NNEIEELKTL
310 320 330 340 350
YRSKQHETEE TIRKLEKKVQ TLIRDCQVIR ETKEDQIAEL KKICEQSTES
360 370 380 390 400
LNNDWEKKLH NAVAEMEQEK FDLQKQHTEN IQELLEDTNV RLNKMESEYM
410 420 430 440 450
AQTQSTNHMI KELEARVQQL TGEAENSNLQ RQKLIQEKAE LERCYQITCS
460 470 480 490 500
ELQEVKARRN TLHKEKDHLV NDYEQNMKLL QTKYDADINL LKQEHALSAS
510 520 530 540 550
KASSMIEELE QNVCQLKQQL QESELQRKQQ LRDQENKFQM EKSHLKHIYE
560 570 580 590 600
KKAHDLQSEL DKGKEDTQKK IHKFEEALKE KEEQLTRVTE VQRLQAQQAD
610 620 630 640 650
AALEEFKRQV ELNSEKVYAE MKEQMEKVEA DLTRSKSLRE KQSKEFLWQL
660 670 680 690 700
EDIRQRYEQQ IVELKLEHEQ EKTHLLQQHN AEKDSLVRDH EREIENLEKQ
710 720 730 740 750
LRAANMEHEN QIQEFKKRDA QVIADMEAQV HKLREELINV NSQRKQQLVE
760 770 780 790 800
LGLLREEEKQ RATREHEIVV NKLKAESEKM KIELKKTHAA ETEMTLEKAN
810 820 830 840 850
SKLKQIEKEY TQKLAKSSQI IAELQTTISS LKEENSQQQL AAERRLQDVR
860 870 880 890 900
QKFEDEKKQL IRDNDQAIKV LQDELENRSN QVRCAEKKLQ HKELESQEQI
910 920 930 940 950
TYIRQEYETK LKGLMPASLR QELEDTISSL KSQVNFLQKR ASILQEELTT

YQGRR
Length:955
Mass (Da):112,749
Last modified:May 16, 2006 - v2
Checksum:i534B56635FD41406
GO
Isoform 2 (identifier: Q8N8E3-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-744: Missing.
     745-797: KQQLVELGLL...HAAETEMTLE → MWASLSLDHP...DTGKSNLKEK

Note: No experimental confirmation available.
Show »
Length:211
Mass (Da):24,538
Checksum:iD5019888D7358623
GO

Sequence cautioni

The sequence AAH37991 differs from that shown. Contaminating sequence. Potential poly-A sequence starting in position 563.Curated
The sequence AAM49719 differs from that shown. Reason: Erroneous initiation.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti449C → S in AAM49719 (Ref. 4) Curated1
Sequence conflicti623E → K in AAM49719 (Ref. 4) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_050752551K → E.1 PublicationCorresponds to variant rs17704679dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0183381 – 744Missing in isoform 2. 1 PublicationAdd BLAST744
Alternative sequenceiVSP_018339745 – 797KQQLV…EMTLE → MWASLSLDHPSAKENQALRL IEMREENGNVPKTEQAGSLK PLRDTGKSNLKEK in isoform 2. 1 PublicationAdd BLAST53

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AC004805 Genomic DNA. No translation available.
AC105028 Genomic DNA. No translation available.
AC006440 Genomic DNA. No translation available.
AC007716 Genomic DNA. No translation available.
AC087302 Genomic DNA. No translation available.
AC006120 Genomic DNA. No translation available.
BC029524 mRNA. Translation: AAH29524.1.
BC037991 mRNA. Translation: AAH37991.1. Sequence problems.
AK096929 mRNA. No translation available.
AF458591 mRNA. Translation: AAM49719.1. Different initiation.
CCDSiCCDS32710.1. [Q8N8E3-1]
CCDS32711.1. [Q8N8E3-2]
RefSeqiNP_001032402.1. NM_001037325.2. [Q8N8E3-2]
NP_001186094.1. NM_001199165.2. [Q8N8E3-1]
XP_011522763.1. XM_011524461.2. [Q8N8E3-1]
UniGeneiHs.408676.

Genome annotation databases

EnsembliENST00000317442; ENSP00000320592; ENSG00000154240. [Q8N8E3-2]
ENST00000392769; ENSP00000376522; ENSG00000154240. [Q8N8E3-1]
ENST00000535342; ENSP00000442784; ENSG00000154240. [Q8N8E3-1]
GeneIDi201134.
KEGGihsa:201134.
UCSCiuc002jfk.4. human. [Q8N8E3-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AC004805 Genomic DNA. No translation available.
AC105028 Genomic DNA. No translation available.
AC006440 Genomic DNA. No translation available.
AC007716 Genomic DNA. No translation available.
AC087302 Genomic DNA. No translation available.
AC006120 Genomic DNA. No translation available.
BC029524 mRNA. Translation: AAH29524.1.
BC037991 mRNA. Translation: AAH37991.1. Sequence problems.
AK096929 mRNA. No translation available.
AF458591 mRNA. Translation: AAM49719.1. Different initiation.
CCDSiCCDS32710.1. [Q8N8E3-1]
CCDS32711.1. [Q8N8E3-2]
RefSeqiNP_001032402.1. NM_001037325.2. [Q8N8E3-2]
NP_001186094.1. NM_001199165.2. [Q8N8E3-1]
XP_011522763.1. XM_011524461.2. [Q8N8E3-1]
UniGeneiHs.408676.

3D structure databases

ProteinModelPortaliQ8N8E3.
SMRiQ8N8E3.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi128362. 2 interactors.
IntActiQ8N8E3. 3 interactors.

PTM databases

iPTMnetiQ8N8E3.
PhosphoSitePlusiQ8N8E3.

Polymorphism and mutation databases

BioMutaiCEP112.
DMDMi97045680.

Proteomic databases

EPDiQ8N8E3.
MaxQBiQ8N8E3.
PaxDbiQ8N8E3.
PeptideAtlasiQ8N8E3.
PRIDEiQ8N8E3.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000317442; ENSP00000320592; ENSG00000154240. [Q8N8E3-2]
ENST00000392769; ENSP00000376522; ENSG00000154240. [Q8N8E3-1]
ENST00000535342; ENSP00000442784; ENSG00000154240. [Q8N8E3-1]
GeneIDi201134.
KEGGihsa:201134.
UCSCiuc002jfk.4. human. [Q8N8E3-1]

Organism-specific databases

CTDi201134.
DisGeNETi201134.
GeneCardsiCEP112.
H-InvDBHIX0014099.
HGNCiHGNC:28514. CEP112.
HPAiHPA024481.
neXtProtiNX_Q8N8E3.
OpenTargetsiENSG00000154240.
PharmGKBiPA142672163.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IHFX. Eukaryota.
ENOG410ZK97. LUCA.
GeneTreeiENSGT00390000006544.
HOVERGENiHBG056822.
InParanoidiQ8N8E3.
KOiK16767.
OMAiNDYEQNM.
OrthoDBiEOG091G01YJ.
PhylomeDBiQ8N8E3.
TreeFamiTF328995.

Miscellaneous databases

ChiTaRSiCEP112. human.
GenomeRNAii201134.
PROiQ8N8E3.

Gene expression databases

BgeeiENSG00000154240.
CleanExiHS_CCDC46.
ExpressionAtlasiQ8N8E3. baseline and differential.
GenevisibleiQ8N8E3. HS.

Family and domain databases

InterProiIPR027831. DUF4485.
[Graphical view]
PfamiPF14846. DUF4485. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiCE112_HUMAN
AccessioniPrimary (citable) accession number: Q8N8E3
Secondary accession number(s): Q6PIB5, Q8NCR4, Q8NFR4
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 16, 2006
Last sequence update: May 16, 2006
Last modified: November 2, 2016
This is version 100 of the entry and version 2 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 17
    Human chromosome 17: 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

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.