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Protein

Protein C21orf2

Gene

C21orf2

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

Functioni

May play a role in cilia formation and/or maintenance (By similarity). Plays a role in the regulation of cell morphology and cytoskeletal organization (PubMed:21834987).By similarity1 Publication

GO - Biological processi

  • cilium morphogenesis Source: Ensembl
  • cytoskeleton organization Source: UniProtKB
  • regulation of cell shape Source: UniProtKB
  • smoothened signaling pathway Source: Ensembl
Complete GO annotation...

Keywords - Biological processi

Cilium biogenesis/degradation

Enzyme and pathway databases

BioCyciZFISH:ENSG00000160226-MONOMER.

Names & Taxonomyi

Protein namesi
Recommended name:
Protein C21orf2
Alternative name(s):
C21orf-HUMF09G8.5
Leucine-rich repeat-containing protein 76
YF5/A2
Gene namesi
Name:C21orf2
Synonyms:LRRC76
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 21

Organism-specific databases

HGNCiHGNC:1260. C21orf2.

Subcellular locationi

GO - Cellular componenti

  • ciliary basal body Source: UniProtKB
  • cytoplasm Source: UniProtKB
  • mitochondrion Source: UniProtKB
  • photoreceptor connecting cilium Source: UniProtKB
  • plasma membrane Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cell projection, Cytoplasm, Cytoskeleton, Mitochondrion

Pathology & Biotechi

Involvement in diseasei

Defects in C21orf2 may play a role in Jeune syndrome. Jeune syndrome is a form of short-rib thoracic dysplasia, a group of autosomal recessive ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. Additional features include polydactyly, kidney cysts and renal failure, retinal degeneration and liver disease are variably present.

Defects in C21orf2 may be the cause of a autosomal recessive spondylometaphyseal dysplasia axial. Spondylometaphyseal dysplasia axial is a clinical subtype of spondylometaphyseal dysplasia, in which mainly axial skeleton and retina are affected. Affected individuals show postnatal growth deficiency, mild short stature, rhizomelic shortening of the limbs without bowing of the long bones of the legs, axial metaphyseal abnormalities with progressive mild platyspondyly, progressive femoral metaphyseal changes, decreased anteroposterior diameter of the thorax with markedly flared anterior ends of the ribs, normal tubular bones, and early onset and progressive visual impairment, with cone-rod dystrophy and/or optic atrophy.

Keywords - Diseasei

Ciliopathy

Organism-specific databases

DisGeNETi755.
OpenTargetsiENSG00000160226.
PharmGKBiPA25816.

Polymorphism and mutation databases

BioMutaiC21orf2.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000795031 – 256Protein C21orf2Add BLAST256

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei136PhosphoserineCombined sources1
Modified residuei177PhosphoserineCombined sources1
Isoform 3 (identifier: O43822-3)
Modified residuei177PhosphoserineCombined sources1
Isoform 4 (identifier: O43822-4)
Modified residuei177PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQBiO43822.
PaxDbiO43822.
PeptideAtlasiO43822.
PRIDEiO43822.

PTM databases

iPTMnetiO43822.
PhosphoSitePlusiO43822.

Expressioni

Tissue specificityi

Widely expressed (PubMed:26974433, PubMed:9325172).2 Publications

Gene expression databases

BgeeiENSG00000160226.
CleanExiHS_C21orf2.
GenevisibleiO43822. HS.

Organism-specific databases

HPAiCAB034126.
CAB034128.
HPA030284.

Interactioni

Subunit structurei

Found in a complex with C21orf2, NEK1 and SPATA7 (PubMed:26167768). Interacts with NEK1 (PubMed:26167768).1 Publication

Binary interactionsi

WithEntry#Exp.IntActNotes
ATOX1O002443EBI-2835332,EBI-10179267
FLJ13057Q53SE73EBI-2835332,EBI-10172181

Protein-protein interaction databases

BioGridi107211. 16 interactors.
IntActiO43822. 17 interactors.
STRINGi9606.ENSP00000344566.

Structurei

3D structure databases

ProteinModelPortaliO43822.
SMRiO43822.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati19 – 40LRR 1Add BLAST22
Repeati41 – 62LRR 2Add BLAST22
Repeati63 – 84LRR 3Add BLAST22
Domaini97 – 137LRRCTAdd BLAST41

Sequence similaritiesi

Contains 3 LRR (leucine-rich) repeats.Curated
Contains 1 LRRCT domain.Curated

Keywords - Domaini

Leucine-rich repeat, Repeat

Phylogenomic databases

eggNOGiKOG2123. Eukaryota.
ENOG410Y9AE. LUCA.
GeneTreeiENSGT00390000018807.
HOGENOMiHOG000006955.
HOVERGENiHBG051221.
InParanoidiO43822.
OMAiWSVECGP.
OrthoDBiEOG091G0AX3.
PhylomeDBiO43822.
TreeFamiTF326666.

Family and domain databases

Gene3Di3.80.10.10. 1 hit.
InterProiIPR032675. L_dom-like.
IPR001611. Leu-rich_rpt.
IPR003603. U2A'_phosphoprotein32A_C.
[Graphical view]
SMARTiSM00446. LRRcap. 1 hit.
[Graphical view]
SUPFAMiSSF52058. SSF52058. 1 hit.
PROSITEiPS51450. LRR. 2 hits.
[Graphical view]

Sequences (4)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform Long (identifier: O43822-1) [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
MKLTRKMVLT RAKASELHSV RKLNCWGSRL TDISICQEMP SLEVITLSVN
60 70 80 90 100
SISTLEPVSR CQRLSELYLR RNRIPSLAEL FYLKGLPRLR VLWLAENPCC
110 120 130 140 150
GTSPHRYRMT VLRTLPRLQK LDNQAVTEEE LSRALSEGEE ITAAPEREGT
160 170 180 190 200
GHGGPKLCCT LSSLSSAAET GRDPLDSEEE ATSGAQDERG LKPPSRGQFP
210 220 230 240 250
SLSARDASSS HRGRNVLTAI LLLLRELDAE GLEAVQQTVG SRLQALRGEE

VQEHAE
Length:256
Mass (Da):28,340
Last modified:June 1, 1998 - v1
Checksum:iD33F31EDAEA77D2A
GO
Isoform Short (identifier: O43822-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-38: Missing.
     49-51: Missing.

Show »
Length:215
Mass (Da):23,654
Checksum:iFB0E3948D4D824FC
GO
Isoform 3 (identifier: O43822-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     183-183: Missing.

Show »
Length:255
Mass (Da):28,253
Checksum:i3F8A687DB91FD36D
GO
Isoform 4 (identifier: O43822-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     183-183: Missing.
     214-214: R → RVSGGPLGAA...LLCSDSPSVP

Note: No experimental confirmation available.Combined sources
Show »
Length:375
Mass (Da):40,422
Checksum:i69428D80A40006BC
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti106R → A in AAB46590 (Ref. 3) Curated1
Sequence conflicti106R → A in AAB46591 (Ref. 3) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07592473R → P Probable disease associated mutation found in a patient with spondylometaphyseal dysplasia axial; found in a patient with Jeune syndrome; unknown pathological significance; no effect on ciliogenesis, abolishes interaction with NEK1. 2 PublicationsCorresponds to variant rs140451304dbSNPEnsembl.1
Natural variantiVAR_075925107Y → H Probable disease associated mutation found in a patient with spondylometaphyseal dysplasia axial. 1 PublicationCorresponds to variant rs763623409dbSNPEnsembl.1
Natural variantiVAR_075926116P → L Probable disease associated mutation found in a patient with spondylometaphyseal dysplasia axial. 1 Publication1
Natural variantiVAR_016155150T → I.1 PublicationCorresponds to variant rs2277809dbSNPEnsembl.1
Natural variantiVAR_050927153G → S.Corresponds to variant rs9306099dbSNPEnsembl.1
Natural variantiVAR_075927224L → P Found in a patient with Jeune syndrome; unknown pathological significance; no effect on ciliogenesis; abolishes interaction with NEK1. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0041381 – 38Missing in isoform Short. 1 PublicationAdd BLAST38
Alternative sequenceiVSP_00413949 – 51Missing in isoform Short. 1 Publication3
Alternative sequenceiVSP_047417183Missing in isoform 3 and isoform 4. 2 Publications1
Alternative sequenceiVSP_047418214R → RVSGGPLGAAAASAHCTHCT ETVGREHGASQGPVGREHGA SQGLEELCPRGSCVCGSVNA HTRVTRAPHGAVLAPQPLLL SWSVECGPGPCWAEGNRSHV EEVPHTRPQAGLLCSDSPSV P in isoform 4. 1 Publication1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
Y11392 mRNA. Translation: CAA72202.1.
Z93322 mRNA. Translation: CAB07532.1.
U84569 mRNA. Translation: AAB46590.1.
U84570 mRNA. Translation: AAB46591.1.
AP001062 Genomic DNA. No translation available.
AP001754 Genomic DNA. Translation: BAA95562.1.
CH471079 Genomic DNA. Translation: EAX09432.1.
CH471079 Genomic DNA. Translation: EAX09434.1.
BC031300 mRNA. Translation: AAH31300.1.
BC072012 mRNA. Translation: AAH72012.1.
CCDSiCCDS13709.1. [O43822-1]
CCDS59444.1. [O43822-4]
CCDS59445.1. [O43822-3]
RefSeqiNP_001258369.1. NM_001271440.1. [O43822-3]
NP_001258370.1. NM_001271441.1. [O43822-4]
NP_001258371.1. NM_001271442.1.
NP_004919.1. NM_004928.2. [O43822-1]
UniGeneiHs.517331.

Genome annotation databases

EnsembliENST00000325223; ENSP00000317302; ENSG00000160226. [O43822-3]
ENST00000339818; ENSP00000344566; ENSG00000160226. [O43822-1]
ENST00000397956; ENSP00000381047; ENSG00000160226. [O43822-4]
GeneIDi755.
KEGGihsa:755.
UCSCiuc002zep.2. human. [O43822-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
Y11392 mRNA. Translation: CAA72202.1.
Z93322 mRNA. Translation: CAB07532.1.
U84569 mRNA. Translation: AAB46590.1.
U84570 mRNA. Translation: AAB46591.1.
AP001062 Genomic DNA. No translation available.
AP001754 Genomic DNA. Translation: BAA95562.1.
CH471079 Genomic DNA. Translation: EAX09432.1.
CH471079 Genomic DNA. Translation: EAX09434.1.
BC031300 mRNA. Translation: AAH31300.1.
BC072012 mRNA. Translation: AAH72012.1.
CCDSiCCDS13709.1. [O43822-1]
CCDS59444.1. [O43822-4]
CCDS59445.1. [O43822-3]
RefSeqiNP_001258369.1. NM_001271440.1. [O43822-3]
NP_001258370.1. NM_001271441.1. [O43822-4]
NP_001258371.1. NM_001271442.1.
NP_004919.1. NM_004928.2. [O43822-1]
UniGeneiHs.517331.

3D structure databases

ProteinModelPortaliO43822.
SMRiO43822.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi107211. 16 interactors.
IntActiO43822. 17 interactors.
STRINGi9606.ENSP00000344566.

PTM databases

iPTMnetiO43822.
PhosphoSitePlusiO43822.

Polymorphism and mutation databases

BioMutaiC21orf2.

Proteomic databases

MaxQBiO43822.
PaxDbiO43822.
PeptideAtlasiO43822.
PRIDEiO43822.

Protocols and materials databases

DNASUi755.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000325223; ENSP00000317302; ENSG00000160226. [O43822-3]
ENST00000339818; ENSP00000344566; ENSG00000160226. [O43822-1]
ENST00000397956; ENSP00000381047; ENSG00000160226. [O43822-4]
GeneIDi755.
KEGGihsa:755.
UCSCiuc002zep.2. human. [O43822-1]

Organism-specific databases

CTDi755.
DisGeNETi755.
GeneCardsiC21orf2.
H-InvDBHIX0016167.
HIX0016168.
HGNCiHGNC:1260. C21orf2.
HPAiCAB034126.
CAB034128.
HPA030284.
MIMi603191. gene.
neXtProtiNX_O43822.
OpenTargetsiENSG00000160226.
PharmGKBiPA25816.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2123. Eukaryota.
ENOG410Y9AE. LUCA.
GeneTreeiENSGT00390000018807.
HOGENOMiHOG000006955.
HOVERGENiHBG051221.
InParanoidiO43822.
OMAiWSVECGP.
OrthoDBiEOG091G0AX3.
PhylomeDBiO43822.
TreeFamiTF326666.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000160226-MONOMER.

Miscellaneous databases

ChiTaRSiC21orf2. human.
GenomeRNAii755.
PROiO43822.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000160226.
CleanExiHS_C21orf2.
GenevisibleiO43822. HS.

Family and domain databases

Gene3Di3.80.10.10. 1 hit.
InterProiIPR032675. L_dom-like.
IPR001611. Leu-rich_rpt.
IPR003603. U2A'_phosphoprotein32A_C.
[Graphical view]
SMARTiSM00446. LRRcap. 1 hit.
[Graphical view]
SUPFAMiSSF52058. SSF52058. 1 hit.
PROSITEiPS51450. LRR. 2 hits.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiCU002_HUMAN
AccessioniPrimary (citable) accession number: O43822
Secondary accession number(s): A8MPS9
, O14993, Q8N5X6, Q99837, Q99838
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 15, 1998
Last sequence update: June 1, 1998
Last modified: November 30, 2016
This is version 139 of the entry and version 1 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 21
    Human chromosome 21: 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. SIMILARITY comments
    Index of protein domains and families

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.