Full text data of NCDN
NCDN
(KIAA0607)
[Confidence: low (only semi-automatic identification from reviews)]
Neurochondrin
Note: presumably soluble (membrane word is not in UniProt keywords or features)
Neurochondrin
Note: presumably soluble (membrane word is not in UniProt keywords or features)
UniProt
Q9UBB6
ID NCDN_HUMAN Reviewed; 729 AA.
AC Q9UBB6; D3DPR9; Q9UBY2; Q9Y4A6; Q9Y4D9;
DT 18-MAR-2008, integrated into UniProtKB/Swiss-Prot.
read moreDT 01-MAY-2000, sequence version 1.
DT 22-JAN-2014, entry version 88.
DE RecName: Full=Neurochondrin;
GN Name=NCDN; Synonyms=KIAA0607;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC Catarrhini; Hominidae; Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA], AND TISSUE SPECIFICITY.
RC TISSUE=Brain;
RX PubMed=10524216; DOI=10.1016/S0167-4781(99)00120-7;
RA Mochizuki R., Ishizuka Y., Yanai K., Murakami K., Koga Y.,
RA Fukamizu A.;
RT "Molecular cloning and expression of human neurochondrin-1 and -2.";
RL Biochim. Biophys. Acta 1446:397-402(1999).
RN [2]
RP ERRATUM.
RX PubMed=10684983;
RA Mochizuki R., Ishizuka Y., Yanai K., Murakami K., Koga Y.,
RA Fukamizu A.;
RL Biochim. Biophys. Acta 1490:367-368(2000).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16710414; DOI=10.1038/nature04727;
RA Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D.,
RA Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A.,
RA Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F.,
RA McDonald L., Evans R., Phillips K., Atkinson A., Cooper R., Jones C.,
RA Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P.,
RA Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K.,
RA Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G.,
RA Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D.,
RA Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G.,
RA Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J.,
RA Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H.,
RA Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L.,
RA Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J.,
RA Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R.,
RA Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D.,
RA Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G.,
RA Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M.,
RA Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J.,
RA Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M.,
RA Loveland J., Lovell J., Lush M.J., Lyne R., Martin S.,
RA Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S.,
RA Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N.,
RA Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V.,
RA Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J.,
RA Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E.,
RA Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C.,
RA Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z.,
RA Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E.,
RA Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A.,
RA Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R.,
RA Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V.,
RA Beck S., Rogers J., Bentley D.R.;
RT "The DNA sequence and biological annotation of human chromosome 1.";
RL Nature 441:315-321(2006).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L.,
RA Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R.,
RA Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V.,
RA Hannenhalli S., Turner R., Yooseph S., Lu F., Nusskern D.R.,
RA Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H.,
RA Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G.,
RA Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W.,
RA Venter J.C.;
RL Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Uterus;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA
RT project: the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [6]
RP PARTIAL NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3), AND TISSUE
RP SPECIFICITY.
RC TISSUE=Brain;
RX PubMed=9628581; DOI=10.1093/dnares/5.1.31;
RA Nagase T., Ishikawa K., Miyajima N., Tanaka A., Kotani H., Nomura N.,
RA Ohara O.;
RT "Prediction of the coding sequences of unidentified human genes. IX.
RT The complete sequences of 100 new cDNA clones from brain which can
RT code for large proteins in vitro.";
RL DNA Res. 5:31-39(1998).
RN [7]
RP FUNCTION, AND INTERACTION WITH MCHR1.
RX PubMed=16945926; DOI=10.1074/jbc.M602889200;
RA Francke F., Ward R.J., Jenkins L., Kellett E., Richter D.,
RA Milligan G., Baechner D.;
RT "Interaction of neurochondrin with the melanin-concentrating hormone
RT receptor 1 interferes with G protein-coupled signal transduction but
RT not agonist-mediated internalization.";
RL J. Biol. Chem. 281:32496-32507(2006).
RN [8]
RP ACETYLATION [LARGE SCALE ANALYSIS] AT SER-2, MASS SPECTROMETRY, AND
RP CLEAVAGE OF INITIATOR METHIONINE.
RX PubMed=19413330; DOI=10.1021/ac9004309;
RA Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J.,
RA Mohammed S.;
RT "Lys-N and trypsin cover complementary parts of the phosphoproteome in
RT a refined SCX-based approach.";
RL Anal. Chem. 81:4493-4501(2009).
RN [9]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=21269460; DOI=10.1186/1752-0509-5-17;
RA Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P.,
RA Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.;
RT "Initial characterization of the human central proteome.";
RL BMC Syst. Biol. 5:17-17(2011).
RN [10]
RP ACETYLATION [LARGE SCALE ANALYSIS] AT SER-2, AND MASS SPECTROMETRY.
RX PubMed=22814378; DOI=10.1073/pnas.1210303109;
RA Van Damme P., Lasa M., Polevoda B., Gazquez C., Elosegui-Artola A.,
RA Kim D.S., De Juan-Pardo E., Demeyer K., Hole K., Larrea E.,
RA Timmerman E., Prieto J., Arnesen T., Sherman F., Gevaert K.,
RA Aldabe R.;
RT "N-terminal acetylome analyses and functional insights of the N-
RT terminal acetyltransferase NatB.";
RL Proc. Natl. Acad. Sci. U.S.A. 109:12449-12454(2012).
RN [11]
RP VARIANTS [LARGE SCALE ANALYSIS] GLU-392 AND LEU-392.
RX PubMed=16959974; DOI=10.1126/science.1133427;
RA Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D.,
RA Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S.,
RA Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J.,
RA Dawson D., Willson J.K.V., Gazdar A.F., Hartigan J., Wu L., Liu C.,
RA Parmigiani G., Park B.H., Bachman K.E., Papadopoulos N.,
RA Vogelstein B., Kinzler K.W., Velculescu V.E.;
RT "The consensus coding sequences of human breast and colorectal
RT cancers.";
RL Science 314:268-274(2006).
CC -!- FUNCTION: Probably involved in signal transduction, in the nervous
CC system, via increasing cell surface localization of GRM5 and
CC positively regulating its signaling (By similarity). Required for
CC the spatial learning process. Acts as a negative regulator of
CC Ca(2+)-calmodulin-dependent protein kinase 2 (CaMK2)
CC phosphorylation. May play a role in modulating melanin-
CC concentrating hormone-mediated functions via its interaction with
CC MCHR1 that interferes with G protein-coupled signal transduction.
CC May be involved in bone metabolism. May also be involved in
CC neurite outgrowth.
CC -!- SUBUNIT: Interacts with SEMA4C, DIAPH1 (via FH3 domain) and GRM5
CC (By similarity). Interacts with MCHR1.
CC -!- SUBCELLULAR LOCATION: Cytoplasm, cytosol. Cell projection,
CC dendrite. Note=Localizes to somatic regions of neurons.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1; Synonyms=NCDN1, Neurochondrin-1;
CC IsoId=Q9UBB6-1; Sequence=Displayed;
CC Name=2; Synonyms=NCDN2, Neurochondrin-2;
CC IsoId=Q9UBB6-2; Sequence=VSP_032315;
CC Name=3;
CC IsoId=Q9UBB6-3; Sequence=VSP_032316;
CC Note=Incomplete sequence. No experimental confirmation
CC available;
CC -!- TISSUE SPECIFICITY: Abundantly expressed in whole adult brain and
CC in all individual brain regions examined, including spinal cord.
CC Weakly expressed in ovary, testis, fetal brain and small
CC intestine.
CC -!- SIMILARITY: Belongs to the neurochondrin family.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAD05029.1; Type=Erroneous gene model prediction;
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DR EMBL; AB018739; BAA85384.2; -; mRNA.
DR EMBL; AB018740; BAA85385.2; -; mRNA.
DR EMBL; AB027514; BAA77830.1; -; Genomic_DNA.
DR EMBL; AB027514; BAA77831.1; -; Genomic_DNA.
DR EMBL; AC004865; AAD05029.1; ALT_SEQ; Genomic_DNA.
DR EMBL; CH471059; EAX07410.1; -; Genomic_DNA.
DR EMBL; CH471059; EAX07411.1; -; Genomic_DNA.
DR EMBL; CH471059; EAX07412.1; -; Genomic_DNA.
DR EMBL; BC024592; AAH24592.1; -; mRNA.
DR EMBL; AB011179; BAA25533.1; -; mRNA.
DR RefSeq; NP_001014839.1; NM_001014839.1.
DR RefSeq; NP_001014841.1; NM_001014841.1.
DR RefSeq; NP_055099.1; NM_014284.2.
DR RefSeq; XP_005270717.1; XM_005270660.1.
DR RefSeq; XP_005270718.1; XM_005270661.1.
DR UniGene; Hs.121870; -.
DR ProteinModelPortal; Q9UBB6; -.
DR IntAct; Q9UBB6; 2.
DR STRING; 9606.ENSP00000348394; -.
DR PhosphoSite; Q9UBB6; -.
DR DMDM; 74753219; -.
DR PaxDb; Q9UBB6; -.
DR PRIDE; Q9UBB6; -.
DR DNASU; 23154; -.
DR Ensembl; ENST00000356090; ENSP00000348394; ENSG00000020129.
DR Ensembl; ENST00000373243; ENSP00000362340; ENSG00000020129.
DR Ensembl; ENST00000373253; ENSP00000362350; ENSG00000020129.
DR GeneID; 23154; -.
DR KEGG; hsa:23154; -.
DR UCSC; uc001bza.3; human.
DR CTD; 23154; -.
DR GeneCards; GC01P036023; -.
DR HGNC; HGNC:17597; NCDN.
DR HPA; HPA023676; -.
DR MIM; 608458; gene.
DR neXtProt; NX_Q9UBB6; -.
DR PharmGKB; PA134963729; -.
DR eggNOG; NOG240612; -.
DR HOGENOM; HOG000113742; -.
DR HOVERGEN; HBG097452; -.
DR InParanoid; Q9UBB6; -.
DR OMA; PEKQKEP; -.
DR OrthoDB; EOG72ZCDD; -.
DR PhylomeDB; Q9UBB6; -.
DR ChiTaRS; NCDN; human.
DR GeneWiki; NCDN; -.
DR GenomeRNAi; 23154; -.
DR NextBio; 44485; -.
DR PRO; PR:Q9UBB6; -.
DR ArrayExpress; Q9UBB6; -.
DR Bgee; Q9UBB6; -.
DR CleanEx; HS_NCDN; -.
DR Genevestigator; Q9UBB6; -.
DR GO; GO:0005829; C:cytosol; ISS:UniProtKB.
DR GO; GO:0030425; C:dendrite; ISS:UniProtKB.
DR GO; GO:0043025; C:neuronal cell body; ISS:UniProtKB.
DR GO; GO:0045453; P:bone resorption; IEA:Ensembl.
DR GO; GO:0031175; P:neuron projection development; ISS:UniProtKB.
DR GO; GO:0048168; P:regulation of neuronal synaptic plasticity; IEA:Ensembl.
DR InterPro; IPR016024; ARM-type_fold.
DR InterPro; IPR008709; Neurochondrin.
DR PANTHER; PTHR13109; PTHR13109; 1.
DR SUPFAM; SSF48371; SSF48371; 1.
PE 1: Evidence at protein level;
KW Acetylation; Alternative splicing; Cell projection; Complete proteome;
KW Cytoplasm; Polymorphism; Reference proteome.
FT INIT_MET 1 1 Removed.
FT CHAIN 2 729 Neurochondrin.
FT /FTId=PRO_0000324617.
FT MOD_RES 2 2 N-acetylserine.
FT VAR_SEQ 1 17 Missing (in isoform 2).
FT /FTId=VSP_032315.
FT VAR_SEQ 1 11 MSCCDLAAAGQ -> ALGEDFAARGRSL (in isoform
FT 3).
FT /FTId=VSP_032316.
FT VARIANT 392 392 V -> E (in a colorectal cancer sample;
FT somatic mutation).
FT /FTId=VAR_039849.
FT VARIANT 392 392 V -> L (in a colorectal cancer sample;
FT somatic mutation).
FT /FTId=VAR_039850.
SQ SEQUENCE 729 AA; 78864 MW; FA8D46B06CE1F5AB CRC64;
MSCCDLAAAG QLGKASIMAS DCEPALNQAE GRNPTLERYL GALREAKNDS EQFAALLLVT
KAVKAGDIDA KTRRRIFDAV GFTFPNRLLT TKEAPDGCPD HVLRALGVAL LACFCSDPEL
AAHPQVLNKI PILSTFLTAR GDPDDAARRS MIDDTYQCLT AVAGTPRGPR HLIAGGTVSA
LCQAYLGHGY GFDQALALLV GLLAAAETQC WKEAEPDLLA VLRGLSEDFQ KAEDASKFEL
CQLLPLFLPP TTVPPECYRD LQAGLARILG SKLSSWQRNP ALKLAARLAH ACGSDWIPAG
SSGSKFLALL VNLACVEVRL ALEETGTEVK EDVVTACYAL MELGIQECTR CEQSLLKEPQ
KVQLVSVMKE AIGAVIHYLL QVGSEKQKEP FVFASVRILG AWLAEETSSL RKEVCQLLPF
LVRYAKTLYE EAEEANDLSQ QVANLAISPT TPGPTWPGDA LRLLLPGWCH LTVEDGPREI
LIKEGAPSLL CKYFLQQWEL TSPGHDTSVL PDSVEIGLQT CCHIFLNLVV TAPGLIKRDA
CFTSLMNTLM TSLPALVQQQ GRLLLAANVA TLGLLMARLL STSPALQGTP ASRGFFAAAI
LFLSQSHVAR ATPGSDQAVL ALSPEYEGIW ADLQELWFLG MQAFTGCVPL LPWLAPAALR
SRWPQELLQL LGSVSPNSVK PEMVAAYQGV LVELARANRL CREAMRLQAG EETASHYRMA
ALEQCLSEP
//
ID NCDN_HUMAN Reviewed; 729 AA.
AC Q9UBB6; D3DPR9; Q9UBY2; Q9Y4A6; Q9Y4D9;
DT 18-MAR-2008, integrated into UniProtKB/Swiss-Prot.
read moreDT 01-MAY-2000, sequence version 1.
DT 22-JAN-2014, entry version 88.
DE RecName: Full=Neurochondrin;
GN Name=NCDN; Synonyms=KIAA0607;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC Catarrhini; Hominidae; Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA], AND TISSUE SPECIFICITY.
RC TISSUE=Brain;
RX PubMed=10524216; DOI=10.1016/S0167-4781(99)00120-7;
RA Mochizuki R., Ishizuka Y., Yanai K., Murakami K., Koga Y.,
RA Fukamizu A.;
RT "Molecular cloning and expression of human neurochondrin-1 and -2.";
RL Biochim. Biophys. Acta 1446:397-402(1999).
RN [2]
RP ERRATUM.
RX PubMed=10684983;
RA Mochizuki R., Ishizuka Y., Yanai K., Murakami K., Koga Y.,
RA Fukamizu A.;
RL Biochim. Biophys. Acta 1490:367-368(2000).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16710414; DOI=10.1038/nature04727;
RA Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D.,
RA Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A.,
RA Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F.,
RA McDonald L., Evans R., Phillips K., Atkinson A., Cooper R., Jones C.,
RA Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P.,
RA Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K.,
RA Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G.,
RA Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D.,
RA Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G.,
RA Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J.,
RA Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H.,
RA Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L.,
RA Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J.,
RA Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R.,
RA Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D.,
RA Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G.,
RA Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M.,
RA Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J.,
RA Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M.,
RA Loveland J., Lovell J., Lush M.J., Lyne R., Martin S.,
RA Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S.,
RA Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N.,
RA Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V.,
RA Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J.,
RA Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E.,
RA Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C.,
RA Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z.,
RA Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E.,
RA Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A.,
RA Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R.,
RA Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V.,
RA Beck S., Rogers J., Bentley D.R.;
RT "The DNA sequence and biological annotation of human chromosome 1.";
RL Nature 441:315-321(2006).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L.,
RA Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R.,
RA Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V.,
RA Hannenhalli S., Turner R., Yooseph S., Lu F., Nusskern D.R.,
RA Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H.,
RA Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G.,
RA Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W.,
RA Venter J.C.;
RL Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Uterus;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA
RT project: the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [6]
RP PARTIAL NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3), AND TISSUE
RP SPECIFICITY.
RC TISSUE=Brain;
RX PubMed=9628581; DOI=10.1093/dnares/5.1.31;
RA Nagase T., Ishikawa K., Miyajima N., Tanaka A., Kotani H., Nomura N.,
RA Ohara O.;
RT "Prediction of the coding sequences of unidentified human genes. IX.
RT The complete sequences of 100 new cDNA clones from brain which can
RT code for large proteins in vitro.";
RL DNA Res. 5:31-39(1998).
RN [7]
RP FUNCTION, AND INTERACTION WITH MCHR1.
RX PubMed=16945926; DOI=10.1074/jbc.M602889200;
RA Francke F., Ward R.J., Jenkins L., Kellett E., Richter D.,
RA Milligan G., Baechner D.;
RT "Interaction of neurochondrin with the melanin-concentrating hormone
RT receptor 1 interferes with G protein-coupled signal transduction but
RT not agonist-mediated internalization.";
RL J. Biol. Chem. 281:32496-32507(2006).
RN [8]
RP ACETYLATION [LARGE SCALE ANALYSIS] AT SER-2, MASS SPECTROMETRY, AND
RP CLEAVAGE OF INITIATOR METHIONINE.
RX PubMed=19413330; DOI=10.1021/ac9004309;
RA Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J.,
RA Mohammed S.;
RT "Lys-N and trypsin cover complementary parts of the phosphoproteome in
RT a refined SCX-based approach.";
RL Anal. Chem. 81:4493-4501(2009).
RN [9]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=21269460; DOI=10.1186/1752-0509-5-17;
RA Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P.,
RA Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.;
RT "Initial characterization of the human central proteome.";
RL BMC Syst. Biol. 5:17-17(2011).
RN [10]
RP ACETYLATION [LARGE SCALE ANALYSIS] AT SER-2, AND MASS SPECTROMETRY.
RX PubMed=22814378; DOI=10.1073/pnas.1210303109;
RA Van Damme P., Lasa M., Polevoda B., Gazquez C., Elosegui-Artola A.,
RA Kim D.S., De Juan-Pardo E., Demeyer K., Hole K., Larrea E.,
RA Timmerman E., Prieto J., Arnesen T., Sherman F., Gevaert K.,
RA Aldabe R.;
RT "N-terminal acetylome analyses and functional insights of the N-
RT terminal acetyltransferase NatB.";
RL Proc. Natl. Acad. Sci. U.S.A. 109:12449-12454(2012).
RN [11]
RP VARIANTS [LARGE SCALE ANALYSIS] GLU-392 AND LEU-392.
RX PubMed=16959974; DOI=10.1126/science.1133427;
RA Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D.,
RA Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S.,
RA Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J.,
RA Dawson D., Willson J.K.V., Gazdar A.F., Hartigan J., Wu L., Liu C.,
RA Parmigiani G., Park B.H., Bachman K.E., Papadopoulos N.,
RA Vogelstein B., Kinzler K.W., Velculescu V.E.;
RT "The consensus coding sequences of human breast and colorectal
RT cancers.";
RL Science 314:268-274(2006).
CC -!- FUNCTION: Probably involved in signal transduction, in the nervous
CC system, via increasing cell surface localization of GRM5 and
CC positively regulating its signaling (By similarity). Required for
CC the spatial learning process. Acts as a negative regulator of
CC Ca(2+)-calmodulin-dependent protein kinase 2 (CaMK2)
CC phosphorylation. May play a role in modulating melanin-
CC concentrating hormone-mediated functions via its interaction with
CC MCHR1 that interferes with G protein-coupled signal transduction.
CC May be involved in bone metabolism. May also be involved in
CC neurite outgrowth.
CC -!- SUBUNIT: Interacts with SEMA4C, DIAPH1 (via FH3 domain) and GRM5
CC (By similarity). Interacts with MCHR1.
CC -!- SUBCELLULAR LOCATION: Cytoplasm, cytosol. Cell projection,
CC dendrite. Note=Localizes to somatic regions of neurons.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1; Synonyms=NCDN1, Neurochondrin-1;
CC IsoId=Q9UBB6-1; Sequence=Displayed;
CC Name=2; Synonyms=NCDN2, Neurochondrin-2;
CC IsoId=Q9UBB6-2; Sequence=VSP_032315;
CC Name=3;
CC IsoId=Q9UBB6-3; Sequence=VSP_032316;
CC Note=Incomplete sequence. No experimental confirmation
CC available;
CC -!- TISSUE SPECIFICITY: Abundantly expressed in whole adult brain and
CC in all individual brain regions examined, including spinal cord.
CC Weakly expressed in ovary, testis, fetal brain and small
CC intestine.
CC -!- SIMILARITY: Belongs to the neurochondrin family.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAD05029.1; Type=Erroneous gene model prediction;
CC -----------------------------------------------------------------------
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DR EMBL; AB018739; BAA85384.2; -; mRNA.
DR EMBL; AB018740; BAA85385.2; -; mRNA.
DR EMBL; AB027514; BAA77830.1; -; Genomic_DNA.
DR EMBL; AB027514; BAA77831.1; -; Genomic_DNA.
DR EMBL; AC004865; AAD05029.1; ALT_SEQ; Genomic_DNA.
DR EMBL; CH471059; EAX07410.1; -; Genomic_DNA.
DR EMBL; CH471059; EAX07411.1; -; Genomic_DNA.
DR EMBL; CH471059; EAX07412.1; -; Genomic_DNA.
DR EMBL; BC024592; AAH24592.1; -; mRNA.
DR EMBL; AB011179; BAA25533.1; -; mRNA.
DR RefSeq; NP_001014839.1; NM_001014839.1.
DR RefSeq; NP_001014841.1; NM_001014841.1.
DR RefSeq; NP_055099.1; NM_014284.2.
DR RefSeq; XP_005270717.1; XM_005270660.1.
DR RefSeq; XP_005270718.1; XM_005270661.1.
DR UniGene; Hs.121870; -.
DR ProteinModelPortal; Q9UBB6; -.
DR IntAct; Q9UBB6; 2.
DR STRING; 9606.ENSP00000348394; -.
DR PhosphoSite; Q9UBB6; -.
DR DMDM; 74753219; -.
DR PaxDb; Q9UBB6; -.
DR PRIDE; Q9UBB6; -.
DR DNASU; 23154; -.
DR Ensembl; ENST00000356090; ENSP00000348394; ENSG00000020129.
DR Ensembl; ENST00000373243; ENSP00000362340; ENSG00000020129.
DR Ensembl; ENST00000373253; ENSP00000362350; ENSG00000020129.
DR GeneID; 23154; -.
DR KEGG; hsa:23154; -.
DR UCSC; uc001bza.3; human.
DR CTD; 23154; -.
DR GeneCards; GC01P036023; -.
DR HGNC; HGNC:17597; NCDN.
DR HPA; HPA023676; -.
DR MIM; 608458; gene.
DR neXtProt; NX_Q9UBB6; -.
DR PharmGKB; PA134963729; -.
DR eggNOG; NOG240612; -.
DR HOGENOM; HOG000113742; -.
DR HOVERGEN; HBG097452; -.
DR InParanoid; Q9UBB6; -.
DR OMA; PEKQKEP; -.
DR OrthoDB; EOG72ZCDD; -.
DR PhylomeDB; Q9UBB6; -.
DR ChiTaRS; NCDN; human.
DR GeneWiki; NCDN; -.
DR GenomeRNAi; 23154; -.
DR NextBio; 44485; -.
DR PRO; PR:Q9UBB6; -.
DR ArrayExpress; Q9UBB6; -.
DR Bgee; Q9UBB6; -.
DR CleanEx; HS_NCDN; -.
DR Genevestigator; Q9UBB6; -.
DR GO; GO:0005829; C:cytosol; ISS:UniProtKB.
DR GO; GO:0030425; C:dendrite; ISS:UniProtKB.
DR GO; GO:0043025; C:neuronal cell body; ISS:UniProtKB.
DR GO; GO:0045453; P:bone resorption; IEA:Ensembl.
DR GO; GO:0031175; P:neuron projection development; ISS:UniProtKB.
DR GO; GO:0048168; P:regulation of neuronal synaptic plasticity; IEA:Ensembl.
DR InterPro; IPR016024; ARM-type_fold.
DR InterPro; IPR008709; Neurochondrin.
DR PANTHER; PTHR13109; PTHR13109; 1.
DR SUPFAM; SSF48371; SSF48371; 1.
PE 1: Evidence at protein level;
KW Acetylation; Alternative splicing; Cell projection; Complete proteome;
KW Cytoplasm; Polymorphism; Reference proteome.
FT INIT_MET 1 1 Removed.
FT CHAIN 2 729 Neurochondrin.
FT /FTId=PRO_0000324617.
FT MOD_RES 2 2 N-acetylserine.
FT VAR_SEQ 1 17 Missing (in isoform 2).
FT /FTId=VSP_032315.
FT VAR_SEQ 1 11 MSCCDLAAAGQ -> ALGEDFAARGRSL (in isoform
FT 3).
FT /FTId=VSP_032316.
FT VARIANT 392 392 V -> E (in a colorectal cancer sample;
FT somatic mutation).
FT /FTId=VAR_039849.
FT VARIANT 392 392 V -> L (in a colorectal cancer sample;
FT somatic mutation).
FT /FTId=VAR_039850.
SQ SEQUENCE 729 AA; 78864 MW; FA8D46B06CE1F5AB CRC64;
MSCCDLAAAG QLGKASIMAS DCEPALNQAE GRNPTLERYL GALREAKNDS EQFAALLLVT
KAVKAGDIDA KTRRRIFDAV GFTFPNRLLT TKEAPDGCPD HVLRALGVAL LACFCSDPEL
AAHPQVLNKI PILSTFLTAR GDPDDAARRS MIDDTYQCLT AVAGTPRGPR HLIAGGTVSA
LCQAYLGHGY GFDQALALLV GLLAAAETQC WKEAEPDLLA VLRGLSEDFQ KAEDASKFEL
CQLLPLFLPP TTVPPECYRD LQAGLARILG SKLSSWQRNP ALKLAARLAH ACGSDWIPAG
SSGSKFLALL VNLACVEVRL ALEETGTEVK EDVVTACYAL MELGIQECTR CEQSLLKEPQ
KVQLVSVMKE AIGAVIHYLL QVGSEKQKEP FVFASVRILG AWLAEETSSL RKEVCQLLPF
LVRYAKTLYE EAEEANDLSQ QVANLAISPT TPGPTWPGDA LRLLLPGWCH LTVEDGPREI
LIKEGAPSLL CKYFLQQWEL TSPGHDTSVL PDSVEIGLQT CCHIFLNLVV TAPGLIKRDA
CFTSLMNTLM TSLPALVQQQ GRLLLAANVA TLGLLMARLL STSPALQGTP ASRGFFAAAI
LFLSQSHVAR ATPGSDQAVL ALSPEYEGIW ADLQELWFLG MQAFTGCVPL LPWLAPAALR
SRWPQELLQL LGSVSPNSVK PEMVAAYQGV LVELARANRL CREAMRLQAG EETASHYRMA
ALEQCLSEP
//
MIM
608458
*RECORD*
*FIELD* NO
608458
*FIELD* TI
*608458 NEUROCHONDRIN; NCDN
;;NORBIN;;
KIAA0607
*FIELD* TX
CLONING
By sequencing clones obtained from a size-fractionated brain cDNA
read morelibrary, Nagase et al. (1998) cloned NCDN, which they designated
KIAA0607. The 3-prime UTR of the cDNA contains repetitive sequences. The
deduced 731-amino acid protein has a calculated molecular mass of about
78 kD. Over a 718-amino acid stretch, NCDN shares 98% identity with rat
norbin. RT-PCR detected moderate to high NCDN expression in all tissues
examined, with highest expression in brain and kidney and lowest
expression in pancreas.
By PCR of a fetal brain cDNA library using primers designed from mouse
Ncdn, Mochizuki et al. (1999) obtained cDNAs encoding 2 NCDN splice
variants, which they designated NCDN1 and NCDN2. Full-length NCDN1
encodes a deduced 729-amino acid protein with a calculated molecular
mass of 78.9 kD. NCDN2, which contains a 68-nucleotide deletion relative
to NCDN1, encodes a deduced 712-amino acid protein with a calculated
molecular mass of 77.2 kD. NCDN1 and NCDN2 are leucine rich, and NCDN1
shares 98.2% amino acid identity with mouse Ncdn1. Northern blot
analysis detected a 4.0-kb transcript abundantly expressed in whole
adult brain and in all individual brain regions examined, including
spinal cord. A faint band was observed in ovary, testis, and fetal
brain.
GENE FUNCTION
Wang et al. (2009) reported that the neuron-specific protein Norbin
physically interacts with mouse GluR5 (138245) in vivo, increases the
cell surface localization of the receptor, and positively regulates
GluR5 signaling. Genetic deletion of Norbin attenuated GluR5-dependent
stable changes in synaptic function measured as long-term depression or
long-term potentiation of synaptic transmission in the hippocampus. As
with GluR5 knockout mice or mice treated with GluR5-selective
antagonists, Norbin knockout mice showed a behavioral phenotype
associated with a rodent model of schizophrenia (see 181500), as indexed
by alternations both in sensorimotor gating and psychotomimetic-induced
locomotor activity.
GENE STRUCTURE
Mochizuki et al. (2003) reported that the mouse Ncdn gene contains at
least 7 exons.
MAPPING
By radiation hybrid analysis, Nagase et al. (1998) mapped the NCDN gene
to chromosome 1.
ANIMAL MODEL
Mochizuki et al. (2003) found that mice homozygous for an Ncdn null
mutation died between 3.5 and 6.5 days postcoitum. Heterozygous mutant
mice showed no gross anatomic abnormalities; however, histologic
examination revealed abnormalities in developing cartilage. Expression
of Ncdn in the developing mouse central nervous system varied depending
on the developmental stage. Expression was prominent in the olfactory
bulb and in the lateral choroid plexus.
*FIELD* RF
1. Mochizuki, R.; Dateki, M.; Yanai, K.; Ishizuka, Y.; Amizuka, N.;
Kawashima, H.; Koga, Y.; Ozawa, H.; Fukamizu, A.: Targeted disruption
of the neurochondrin/norbin gene results in embryonic lethality. Biochem.
Biophys. Res. Commun. 310: 1219-1226, 2003.
2. Mochizuki, R.; Ishizuka, Y.; Yanai, K.; Murakami, K.; Koga, Y.;
Fukamizu, A.: Molecular cloning and expression of human neurochondrin-1
and -2. Biochim. Biophys. Acta 1446: 397-402, 1999. Note: Erratum:
Biochim. Biophys. Acta 1490: 367-368, 2000.
3. Nagase, T.; Ishikawa, K.; Miyajima, N.; Tanaka, A.; Kotani, H.;
Nomura, N.; Ohara, O.: Prediction of the coding sequences of unidentified
human genes. IX. The complete sequences of 100 new cDNA clones from
brain which can code for large proteins in vitro. DNA Res. 5: 31-39,
1998.
4. Wang, H.; Westin, L.; Nong, Y.; Birnbaum, S.; Bendor, J.; Brismar,
H.; Nestler, E.; Aperia, A.; Flajolet, M.; Greengard, P.: Norbin
is an endogenous regulator of metabotropic glutamate receptor 5 signaling. Science 326:
1554-1557, 2009.
*FIELD* CN
Ada Hamosh - updated: 1/6/2010
*FIELD* CD
Patricia A. Hartz: 2/10/2004
*FIELD* ED
alopez: 08/08/2012
alopez: 1/19/2010
terry: 1/6/2010
mgross: 2/10/2004
*RECORD*
*FIELD* NO
608458
*FIELD* TI
*608458 NEUROCHONDRIN; NCDN
;;NORBIN;;
KIAA0607
*FIELD* TX
CLONING
By sequencing clones obtained from a size-fractionated brain cDNA
read morelibrary, Nagase et al. (1998) cloned NCDN, which they designated
KIAA0607. The 3-prime UTR of the cDNA contains repetitive sequences. The
deduced 731-amino acid protein has a calculated molecular mass of about
78 kD. Over a 718-amino acid stretch, NCDN shares 98% identity with rat
norbin. RT-PCR detected moderate to high NCDN expression in all tissues
examined, with highest expression in brain and kidney and lowest
expression in pancreas.
By PCR of a fetal brain cDNA library using primers designed from mouse
Ncdn, Mochizuki et al. (1999) obtained cDNAs encoding 2 NCDN splice
variants, which they designated NCDN1 and NCDN2. Full-length NCDN1
encodes a deduced 729-amino acid protein with a calculated molecular
mass of 78.9 kD. NCDN2, which contains a 68-nucleotide deletion relative
to NCDN1, encodes a deduced 712-amino acid protein with a calculated
molecular mass of 77.2 kD. NCDN1 and NCDN2 are leucine rich, and NCDN1
shares 98.2% amino acid identity with mouse Ncdn1. Northern blot
analysis detected a 4.0-kb transcript abundantly expressed in whole
adult brain and in all individual brain regions examined, including
spinal cord. A faint band was observed in ovary, testis, and fetal
brain.
GENE FUNCTION
Wang et al. (2009) reported that the neuron-specific protein Norbin
physically interacts with mouse GluR5 (138245) in vivo, increases the
cell surface localization of the receptor, and positively regulates
GluR5 signaling. Genetic deletion of Norbin attenuated GluR5-dependent
stable changes in synaptic function measured as long-term depression or
long-term potentiation of synaptic transmission in the hippocampus. As
with GluR5 knockout mice or mice treated with GluR5-selective
antagonists, Norbin knockout mice showed a behavioral phenotype
associated with a rodent model of schizophrenia (see 181500), as indexed
by alternations both in sensorimotor gating and psychotomimetic-induced
locomotor activity.
GENE STRUCTURE
Mochizuki et al. (2003) reported that the mouse Ncdn gene contains at
least 7 exons.
MAPPING
By radiation hybrid analysis, Nagase et al. (1998) mapped the NCDN gene
to chromosome 1.
ANIMAL MODEL
Mochizuki et al. (2003) found that mice homozygous for an Ncdn null
mutation died between 3.5 and 6.5 days postcoitum. Heterozygous mutant
mice showed no gross anatomic abnormalities; however, histologic
examination revealed abnormalities in developing cartilage. Expression
of Ncdn in the developing mouse central nervous system varied depending
on the developmental stage. Expression was prominent in the olfactory
bulb and in the lateral choroid plexus.
*FIELD* RF
1. Mochizuki, R.; Dateki, M.; Yanai, K.; Ishizuka, Y.; Amizuka, N.;
Kawashima, H.; Koga, Y.; Ozawa, H.; Fukamizu, A.: Targeted disruption
of the neurochondrin/norbin gene results in embryonic lethality. Biochem.
Biophys. Res. Commun. 310: 1219-1226, 2003.
2. Mochizuki, R.; Ishizuka, Y.; Yanai, K.; Murakami, K.; Koga, Y.;
Fukamizu, A.: Molecular cloning and expression of human neurochondrin-1
and -2. Biochim. Biophys. Acta 1446: 397-402, 1999. Note: Erratum:
Biochim. Biophys. Acta 1490: 367-368, 2000.
3. Nagase, T.; Ishikawa, K.; Miyajima, N.; Tanaka, A.; Kotani, H.;
Nomura, N.; Ohara, O.: Prediction of the coding sequences of unidentified
human genes. IX. The complete sequences of 100 new cDNA clones from
brain which can code for large proteins in vitro. DNA Res. 5: 31-39,
1998.
4. Wang, H.; Westin, L.; Nong, Y.; Birnbaum, S.; Bendor, J.; Brismar,
H.; Nestler, E.; Aperia, A.; Flajolet, M.; Greengard, P.: Norbin
is an endogenous regulator of metabotropic glutamate receptor 5 signaling. Science 326:
1554-1557, 2009.
*FIELD* CN
Ada Hamosh - updated: 1/6/2010
*FIELD* CD
Patricia A. Hartz: 2/10/2004
*FIELD* ED
alopez: 08/08/2012
alopez: 1/19/2010
terry: 1/6/2010
mgross: 2/10/2004