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Protein

Cat eye syndrome critical region protein 5

Gene

CECR5

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 2 out of 5-Experimental evidence at protein leveli

Functioni

GO - Biological processi

Complete GO annotation...

Names & Taxonomyi

Protein namesi
Recommended name:
Cat eye syndrome critical region protein 5
Gene namesi
Name:CECR5
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 22

Organism-specific databases

HGNCiHGNC:1843. CECR5.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA26386.

Polymorphism and mutation databases

BioMutaiCECR5.
DMDMi20177842.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 2323Sequence analysisAdd
BLAST
Chaini24 – 423400Cat eye syndrome critical region protein 5PRO_0000020920Add
BLAST

Proteomic databases

EPDiQ9BXW7.
MaxQBiQ9BXW7.
PaxDbiQ9BXW7.
PRIDEiQ9BXW7.

PTM databases

iPTMnetiQ9BXW7.
PhosphoSiteiQ9BXW7.

Expressioni

Tissue specificityi

Widely expressed.

Gene expression databases

BgeeiQ9BXW7.
CleanExiHS_CECR5.
ExpressionAtlasiQ9BXW7. baseline and differential.
GenevisibleiQ9BXW7. HS.

Organism-specific databases

HPAiHPA005548.

Interactioni

Protein-protein interaction databases

BioGridi118173. 4 interactions.
IntActiQ9BXW7. 2 interactions.
STRINGi9606.ENSP00000337358.

Structurei

3D structure databases

ProteinModelPortaliQ9BXW7.
SMRiQ9BXW7. Positions 48-322.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Keywords - Domaini

Signal

Phylogenomic databases

eggNOGiKOG1618. Eukaryota.
COG0647. LUCA.
GeneTreeiENSGT00390000018051.
HOGENOMiHOG000184412.
HOVERGENiHBG050885.
InParanoidiQ9BXW7.
OMAiWAAPIQK.
OrthoDBiEOG7R831G.
PhylomeDBiQ9BXW7.
TreeFamiTF313681.

Family and domain databases

Gene3Di3.40.50.1000. 2 hits.
InterProiIPR029621. CECR5.
IPR023214. HAD-like_dom.
IPR006357. HAD-SF_hydro_IIA.
IPR006353. HAD-SF_hydro_IIA_CECR5.
[Graphical view]
PANTHERiPTHR14269:SF17. PTHR14269:SF17. 2 hits.
PfamiPF13344. Hydrolase_6. 1 hit.
[Graphical view]
SUPFAMiSSF56784. SSF56784. 3 hits.
TIGRFAMsiTIGR01456. CECR5. 1 hit.
TIGR01460. HAD-SF-IIA. 1 hit.

Sequences (2)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

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

Isoform 2 (identifier: Q9BXW7-1) [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
MAAWGCVAAL GAARGLCWRA ARAAAGLQGR PARRCYAVGP AQSPPTFGFL
60 70 80 90 100
LDIDGVLVRG HRVIPAALKA FRRLVNSQGQ LRVPVVFVTN AGNILQHSKA
110 120 130 140 150
QELSALLGCE VDADQVILSH SPMKLFSEYH EKRMLVSGQG PVMENAQGLG
160 170 180 190 200
FRNVVTVDEL RMAFPLLDMV DLERRLKTTP LPRNDFPRIE GVLLLGEPVR
210 220 230 240 250
WETSLQLIMD VLLSNGSPGA GLATPPYPHL PVLASNMDLL WMAEAKMPRF
260 270 280 290 300
GHGTFLLCLE TIYQKVTGKE LRYEGLMGKP SILTYQYAED LIRRQAERRG
310 320 330 340 350
WAAPIRKLYA VGDNPMSDVY GANLFHQYLQ KATHDGAPEL GAGGTRQQQP
360 370 380 390 400
SASQSCISIL VCTGVYNPRN PQSTEPVLGG GEPPFHGHRD LCFSPGLMEA
410 420
SHVVNDVNEA VQLVFRKEGW ALE
Length:423
Mass (Da):46,321
Last modified:June 1, 2001 - v1
Checksum:iC4D9208AB8B88CCE
GO
Isoform 1 (identifier: Q9BXW7-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-41: MAAWGCVAALGAARGLCWRAARAAAGLQGRPARRCYAVGPA → MYAWFFLPSFS

Show »
Length:393
Mass (Da):43,588
Checksum:iAC8CEC491FD7698B
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti54 – 541D → N in BAA91180 (PubMed:14702039).Curated
Sequence conflicti86 – 861V → F in BAA91475 (PubMed:14702039).Curated
Sequence conflicti297 – 2971E → G in BAA91475 (PubMed:14702039).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti179 – 1791T → M.
Corresponds to variant rs35665085 [ dbSNP | Ensembl ].
VAR_050790
Natural varianti369 – 3691R → S.
Corresponds to variant rs16982020 [ dbSNP | Ensembl ].
VAR_033674
Natural varianti416 – 4161R → C.
Corresponds to variant rs35327402 [ dbSNP | Ensembl ].
VAR_050791

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 4141MAAWG…AVGPA → MYAWFFLPSFS in isoform 1. 1 PublicationVSP_003840Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF273271 mRNA. Translation: AAK19152.1.
AF273270 mRNA. Translation: AAK19151.1.
AK001034 mRNA. Translation: BAA91475.1.
AK000461 mRNA. Translation: BAA91180.1.
AK315156 mRNA. Translation: BAG37602.1.
CH471193 Genomic DNA. Translation: EAW57748.1.
BC042540 mRNA. Translation: AAH42540.1.
CCDSiCCDS13741.1. [Q9BXW7-2]
CCDS33595.1. [Q9BXW7-1]
RefSeqiNP_060299.4. NM_017829.5. [Q9BXW7-2]
NP_149061.1. NM_033070.2. [Q9BXW7-1]
UniGeneiHs.26890.

Genome annotation databases

EnsembliENST00000155674; ENSP00000155674; ENSG00000069998. [Q9BXW7-2]
ENST00000336737; ENSP00000337358; ENSG00000069998. [Q9BXW7-1]
GeneIDi27440.
KEGGihsa:27440.
UCSCiuc002zmf.4. human. [Q9BXW7-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF273271 mRNA. Translation: AAK19152.1.
AF273270 mRNA. Translation: AAK19151.1.
AK001034 mRNA. Translation: BAA91475.1.
AK000461 mRNA. Translation: BAA91180.1.
AK315156 mRNA. Translation: BAG37602.1.
CH471193 Genomic DNA. Translation: EAW57748.1.
BC042540 mRNA. Translation: AAH42540.1.
CCDSiCCDS13741.1. [Q9BXW7-2]
CCDS33595.1. [Q9BXW7-1]
RefSeqiNP_060299.4. NM_017829.5. [Q9BXW7-2]
NP_149061.1. NM_033070.2. [Q9BXW7-1]
UniGeneiHs.26890.

3D structure databases

ProteinModelPortaliQ9BXW7.
SMRiQ9BXW7. Positions 48-322.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi118173. 4 interactions.
IntActiQ9BXW7. 2 interactions.
STRINGi9606.ENSP00000337358.

PTM databases

iPTMnetiQ9BXW7.
PhosphoSiteiQ9BXW7.

Polymorphism and mutation databases

BioMutaiCECR5.
DMDMi20177842.

Proteomic databases

EPDiQ9BXW7.
MaxQBiQ9BXW7.
PaxDbiQ9BXW7.
PRIDEiQ9BXW7.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000155674; ENSP00000155674; ENSG00000069998. [Q9BXW7-2]
ENST00000336737; ENSP00000337358; ENSG00000069998. [Q9BXW7-1]
GeneIDi27440.
KEGGihsa:27440.
UCSCiuc002zmf.4. human. [Q9BXW7-1]

Organism-specific databases

CTDi27440.
GeneCardsiCECR5.
HGNCiHGNC:1843. CECR5.
HPAiHPA005548.
neXtProtiNX_Q9BXW7.
PharmGKBiPA26386.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1618. Eukaryota.
COG0647. LUCA.
GeneTreeiENSGT00390000018051.
HOGENOMiHOG000184412.
HOVERGENiHBG050885.
InParanoidiQ9BXW7.
OMAiWAAPIQK.
OrthoDBiEOG7R831G.
PhylomeDBiQ9BXW7.
TreeFamiTF313681.

Miscellaneous databases

ChiTaRSiCECR5. human.
GenomeRNAii27440.
NextBioi50506.
PROiQ9BXW7.

Gene expression databases

BgeeiQ9BXW7.
CleanExiHS_CECR5.
ExpressionAtlasiQ9BXW7. baseline and differential.
GenevisibleiQ9BXW7. HS.

Family and domain databases

Gene3Di3.40.50.1000. 2 hits.
InterProiIPR029621. CECR5.
IPR023214. HAD-like_dom.
IPR006357. HAD-SF_hydro_IIA.
IPR006353. HAD-SF_hydro_IIA_CECR5.
[Graphical view]
PANTHERiPTHR14269:SF17. PTHR14269:SF17. 2 hits.
PfamiPF13344. Hydrolase_6. 1 hit.
[Graphical view]
SUPFAMiSSF56784. SSF56784. 3 hits.
TIGRFAMsiTIGR01456. CECR5. 1 hit.
TIGR01460. HAD-SF-IIA. 1 hit.
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "Analysis of the cat eye syndrome critical region in humans and the region of conserved synteny in mice: a search for candidate genes at or near the human chromosome 22 pericentromere."
    Footz T.K., Brinkman-Mills P., Banting G.S., Maier S.A., Riazi M.A., Bridgland L.J., Hu S., Birren B., Minoshima S., Shimizu N., Pan H., Nguyen T., Fang F., Fu Y., Ray L., Wu H., Shaull S., Phan S.
    , Yao Z., Chen F., Huan A., Hu P., Wang Q., Loh P., Qi S., Roe B.A., McDermid H.E.
    Genome Res. 11:1053-1070(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2).
  2. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
    Tissue: Embryo, Gastric carcinoma and Testis.
  3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
    Tissue: Lymph.
  5. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  6. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

Entry informationi

Entry nameiCECR5_HUMAN
AccessioniPrimary (citable) accession number: Q9BXW7
Secondary accession number(s): B2RCK5
, Q9BXW8, Q9NWA8, Q9NX41
Entry historyi
Integrated into UniProtKB/Swiss-Prot: April 16, 2002
Last sequence update: June 1, 2001
Last modified: March 16, 2016
This is version 118 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

Miscellaneous

Candidate gene for the Cat Eye Syndrome (CES), a developmental disorder associated with the duplication of a 2 Mb region of 22q11.2. Duplication usually takes in the form of a surpernumerary bisatellited isodicentric chromosome, resulting in four copies of the region (represents an inv dup(22)(q11)). CES is characterized clinically by the combination of coloboma of the iris and anal atresia with fistula, downslanting palpebral fissures, preauricular tags and/or pits, frequent occurrence of heart and renal malformations, and normal or near-normal mental development.

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 22
    Human chromosome 22: 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.