CD048_HUMAN
ID CD048_HUMAN Reviewed; 95 AA.
AC Q5BLP8; B6ZDN0; B7ZBI7; B7ZBI8; X6RBU3;
DT 01-JUL-2008, integrated into UniProtKB/Swiss-Prot.
DT 05-APR-2011, sequence version 3.
DT 03-AUG-2022, entry version 100.
DE RecName: Full=Neuropeptide-like protein C4orf48;
DE Flags: Precursor;
GN Name=C4orf48; ORFNames=Chr4_55;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15815621; DOI=10.1038/nature03466;
RA Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P.,
RA Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C.,
RA Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L.,
RA Du H., Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A.,
RA Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J.,
RA Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M.,
RA Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T.,
RA Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S.,
RA Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K.,
RA McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C.,
RA Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S.,
RA Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C.,
RA Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M.,
RA Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C.,
RA Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J.,
RA Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E.,
RA Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X.,
RA Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M.,
RA Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C.,
RA Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S.,
RA Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H.,
RA Wilson R.K.;
RT "Generation and annotation of the DNA sequences of human chromosomes 2 and
RT 4.";
RL Nature 434:724-731(2005).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
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 project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [MRNA] OF 61-82.
RX PubMed=15809229; DOI=10.1093/nar/gki328;
RA Castelo R., Reymond A., Wyss C., Camara F., Parra G., Antonarakis S.E.,
RA Guigo R., Eyras E.;
RT "Comparative gene finding in chicken indicates that we are closing in on
RT the set of multi-exonic widely expressed human genes.";
RL Nucleic Acids Res. 33:1935-1939(2005).
RN [4]
RP PARTIAL NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RA Hillier L., Allen M., Bowles L., Dubuque T., Geisel G., Jost S.,
RA Krizman D., Kucaba T., Lacy M., Le N., Lennon G., Marra M., Martin J.,
RA Moore B., Schellenberg K., Steptoe M., Tan F., Theising B., White Y.,
RA Wylie T., Waterston R., Wilson R.;
RT "WashU-NCI human EST project.";
RL Submitted (MAR-2000) to the EMBL/GenBank/DDBJ databases.
RN [5]
RP ALTERNATIVE SPLICING (ISOFORMS 1 AND 2), AND TISSUE SPECIFICITY.
RX PubMed=21287218; DOI=10.1007/s10048-011-0275-8;
RA Endele S., Nelkenbrecher C., Bordlein A., Schlickum S., Winterpacht A.;
RT "C4ORF48, a gene from the Wolf-Hirschhorn syndrome critical region, encodes
RT a putative neuropeptide and is expressed during neocortex and cerebellar
RT development.";
RL Neurogenetics 12:155-163(2011).
CC -!- SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q5BLP8-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q5BLP8-2; Sequence=VSP_040898;
CC Name=3;
CC IsoId=Q5BLP8-3; Sequence=VSP_057610;
CC -!- TISSUE SPECIFICITY: Brain-specific (at protein level).
CC {ECO:0000269|PubMed:21287218}.
CC -!- MISCELLANEOUS: Share similarities with neuropeptides, however
CC functional characterization is required to confirm this hypothesis.
CC {ECO:0000305|PubMed:21287218}.
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DR EMBL; AL132868; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC047038; -; NOT_ANNOTATED_CDS; mRNA.
DR EMBL; AY947524; AAX21785.1; -; mRNA.
DR EMBL; AI929674; -; NOT_ANNOTATED_CDS; mRNA.
DR CCDS; CCDS47000.2; -. [Q5BLP8-1]
DR CCDS; CCDS54707.1; -. [Q5BLP8-1]
DR AlphaFoldDB; Q5BLP8; -.
DR SMR; Q5BLP8; -.
DR IntAct; Q5BLP8; 3.
DR STRING; 9606.ENSP00000386807; -.
DR BioMuta; C4orf48; -.
DR DMDM; 327478590; -.
DR MassIVE; Q5BLP8; -.
DR PaxDb; Q5BLP8; -.
DR PeptideAtlas; Q5BLP8; -.
DR PRIDE; Q5BLP8; -.
DR ProteomicsDB; 62716; -. [Q5BLP8-1]
DR ProteomicsDB; 62717; -. [Q5BLP8-2]
DR Antibodypedia; 64905; 5 antibodies from 5 providers.
DR Ensembl; ENST00000409248.10; ENSP00000386807.5; ENSG00000243449.8. [Q5BLP8-1]
DR Ensembl; ENST00000409860.1; ENSP00000386528.1; ENSG00000243449.8. [Q5BLP8-1]
DR MANE-Select; ENST00000409248.10; ENSP00000386807.5; NM_001168243.4; NP_001161715.3.
DR UCSC; uc003gep.4; human. [Q5BLP8-1]
DR UCSC; uc021xkn.1; human.
DR GeneCards; C4orf48; -.
DR HGNC; HGNC:34437; C4orf48.
DR HPA; ENSG00000243449; Tissue enhanced (brain, pituitary gland, testis).
DR MIM; 614690; gene.
DR neXtProt; NX_Q5BLP8; -.
DR OpenTargets; ENSG00000243449; -.
DR PharmGKB; PA164717315; -.
DR VEuPathDB; HostDB:ENSG00000243449; -.
DR eggNOG; ENOG502S5WR; Eukaryota.
DR GeneTree; ENSGT00390000013043; -.
DR HOGENOM; CLU_153985_0_0_1; -.
DR InParanoid; Q5BLP8; -.
DR PhylomeDB; Q5BLP8; -.
DR TreeFam; TF336171; -.
DR PathwayCommons; Q5BLP8; -.
DR SignaLink; Q5BLP8; -.
DR ChiTaRS; C4orf48; human.
DR Pharos; Q5BLP8; Tdark.
DR PRO; PR:Q5BLP8; -.
DR Proteomes; UP000005640; Chromosome 4.
DR RNAct; Q5BLP8; protein.
DR Bgee; ENSG00000243449; Expressed in C1 segment of cervical spinal cord and 170 other tissues.
DR Genevisible; Q5BLP8; HS.
DR GO; GO:0005576; C:extracellular region; IEA:UniProtKB-SubCell.
DR InterPro; IPR028147; Neuropep-like.
DR PANTHER; PTHR35451; PTHR35451; 1.
DR Pfam; PF15161; Neuropep_like; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Reference proteome; Secreted; Signal.
FT SIGNAL 1..34
FT /evidence="ECO:0000255"
FT CHAIN 35..95
FT /note="Neuropeptide-like protein C4orf48"
FT /id="PRO_0000342194"
FT VAR_SEQ 1
FT /note="M -> MGNPGGVGSERMRVARRTRNVCRCPRAAGPGVPEPRAAPLPLLAM
FT (in isoform 2)"
FT /evidence="ECO:0000305"
FT /id="VSP_040898"
FT VAR_SEQ 1
FT /note="M -> MRVARRTRNVCRCPRAAGPGVPEPRAAPLPLLAM (in isoform
FT 3)"
FT /id="VSP_057610"
FT CONFLICT 17
FT /note="P -> L (in Ref. 4; AI929674)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 95 AA; 10170 MW; 99CEDC5826CDE2A2 CRC64;
MAPPPACRSP MSPPPPPLLL LLLSLALLGA RARAEPAGSA VPAQSRPCVD CHAFEFMQRA
LQDLRKTACS LDARTETLLL QAERRALCAC WPAGH
