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Oral-facial-digital syndrome 1 protein homolog

 OFD1_DANRE              Reviewed;         901 AA.
Q7SZK7;
15-JUN-2010, integrated into UniProtKB/Swiss-Prot.
01-OCT-2003, sequence version 1.
15-MAR-2017, entry version 75.
RecName: Full=Oral-facial-digital syndrome 1 protein homolog;
Name=ofd1; ORFNames=zgc:92562;
Danio rerio (Zebrafish) (Brachydanio rerio).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes;
Cyprinidae; Danio.
NCBI_TaxID=7955;
[1]
NUCLEOTIDE SEQUENCE [MRNA], FUNCTION, DISRUPTION PHENOTYPE,
SUBCELLULAR LOCATION, AND TISSUE SPECIFICITY.
PubMed=12782125; DOI=10.1016/S0888-7543(03)00091-0;
Ferrante M.I., Barra A., Truong J.P., Banfi S., Disteche C.M.,
Franco B.;
"Characterization of the OFD1/Ofd1 genes on the human and mouse sex
chromosomes and exclusion of Ofd1 for the Xpl mouse mutant.";
Genomics 81:560-569(2003).
-!- FUNCTION: Component of the centrioles controlling mother and
daughter centrioles length. Involved in the biogenesis of the
cilium, a centriole-associated function. The cilium is a cell
surface projection found in many vertebrate cells required to
transduce signals important for development and tissue
homeostasis. Plays an important role in development by regulating
Wnt signaling and the specification of the left-right axis.
{ECO:0000269|PubMed:12782125}.
-!- SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, microtubule
organizing center, centrosome, centriole
{ECO:0000269|PubMed:12782125}. Cytoplasm, cytoskeleton,
microtubule organizing center, centrosome, centriolar satellite
{ECO:0000269|PubMed:12782125}. Cytoplasm, cytoskeleton, cilium
basal body {ECO:0000269|PubMed:12782125}. Nucleus
{ECO:0000250|UniProtKB:O75665}. Note=Localizes to centriole distal
ends. {ECO:0000250|UniProtKB:O75665}.
-!- TISSUE SPECIFICITY: Widely expressed.
{ECO:0000269|PubMed:12782125}.
-!- DISRUPTION PHENOTYPE: Embryos display several alterations during
development including perturbed intravesicular fluid flow in
Kuppfer's vesicle, convergent extension defects and randomization
of laterality of organs. {ECO:0000269|PubMed:12782125}.
-!- SIMILARITY: Belongs to the OFD1 family. {ECO:0000305}.
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EMBL; AJ534306; CAD58827.1; -; mRNA.
UniGene; Dr.75489; -.
ProteinModelPortal; Q7SZK7; -.
SMR; Q7SZK7; -.
STRING; 7955.ENSDARP00000000952; -.
PaxDb; Q7SZK7; -.
PRIDE; Q7SZK7; -.
ZFIN; ZDB-GENE-030131-5427; ofd1.
eggNOG; ENOG410IJF2; Eukaryota.
eggNOG; ENOG41112K2; LUCA.
HOVERGEN; HBG097911; -.
InParanoid; Q7SZK7; -.
PRO; PR:Q7SZK7; -.
Proteomes; UP000000437; Unplaced.
GO; GO:0005814; C:centriole; IEA:UniProtKB-SubCell.
GO; GO:0005813; C:centrosome; IDA:ZFIN.
GO; GO:0036064; C:ciliary basal body; IDA:ZFIN.
GO; GO:0005634; C:nucleus; IDA:ZFIN.
GO; GO:0030030; P:cell projection organization; IEA:UniProtKB-KW.
GO; GO:0060026; P:convergent extension; IMP:ZFIN.
GO; GO:0060027; P:convergent extension involved in gastrulation; IMP:ZFIN.
GO; GO:0061371; P:determination of heart left/right asymmetry; IMP:ZFIN.
GO; GO:0060287; P:epithelial cilium movement involved in determination of left/right asymmetry; IMP:ZFIN.
InterPro; IPR006594; LisH.
Pfam; PF16045; LisH_2; 1.
PROSITE; PS50896; LISH; 1.
2: Evidence at transcript level;
Cell projection; Cilium; Cilium biogenesis/degradation; Coiled coil;
Complete proteome; Cytoplasm; Cytoskeleton; Nucleus;
Reference proteome.
CHAIN 1 901 Oral-facial-digital syndrome 1 protein
homolog.
/FTId=PRO_0000394660.
DOMAIN 65 97 LisH. {ECO:0000255|PROSITE-
ProRule:PRU00126}.
COILED 164 512 {ECO:0000255}.
COILED 564 600 {ECO:0000255}.
SEQUENCE 901 AA; 103862 MW; C7B162DF6413490A CRC64;
MSASKEESLS PDEMRQKLYQ TFKSRGLLDT LKTQLRNQLI QELQAPVRRG ESASRRSADH
TDSVLVSACN SVVVDHLRSA GYEYTLSVFQ PECGLSKDKV LSSRDVLQIM KISPHMPLYK
SLVSNIQSGQ SGFLKSLLME LTDHSVYRDC SDNSTQTTSI AAHKESLVEK MQLIDEEYEV
LRHRGDRWAS VEAKLAEYRK EIQEQAQIEL NAKLQHFMDV EIAKVKQEEK ERSRKEILEL
RRDMEKTYEL KSEALISREK NAIERLQKHQ EIEEKDIYAQ RQAVLREIES VRSREMELRQ
RMEAFDKSCA LHEEKVKTME DLLRRRELSV KTMEDSFEQK LKSELLKYQL ELKEENMKRP
EKLTENEERI RAEAARLQKE AAVVDAKTED YERKSSEVKQ LLMELESSRS QASLLKQQKE
LLREQLENMR DYPELKKHTL ELQTRISLLK QQLEEKQQHN QRLTQELSAP SHEHLMLQAE
LRRLEAEHKL EKEELETQKN VLHTQLQHEV QQCALLKTQL MECEERTKWM NTHTEELKLQ
LQQTQQGPAL RGPKSRTVAP EHDSDMVISA LSRIRELEQE AERLEEAYRS HQQRALSAED
PTLHRGSQNY SRATAAQQHR VISRSPIFAG RPIEEEHEEF SRTPSPAERL ASPPARRLSS
TPQSASRSKR RADEEHDEHS LNPECVKGSS NTDRPALMFP ERLISPIPAE ELSSSISPNS
PVMKSTTRHT QSPAKLQEIL LSSSSQESSP QPEKITLHDL TEPIQMVSAD QPCLLKDCEP
ELQQDHPDVQ ISSSSSSSSS SQREEEQQRE THTLQQQPHE EQTQEQRDDA GGHVTSAASP
TGGAEEANPL QRYMQMLMQD KQQEQSPNKE SSGSHEENLQ SESHEHSAGV ISHDEADDDF
W


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