EGFEM_HUMAN
ID EGFEM_HUMAN Reviewed; 195 AA.
AC Q0D2K5;
DT 10-JUN-2008, integrated into UniProtKB/Swiss-Prot.
DT 17-OCT-2006, sequence version 1.
DT 25-MAY-2022, entry version 71.
DE RecName: Full=Putative EGF-like and EMI domain-containing protein 1;
GN Name=EGFEM1P; Synonyms=C3orf50, NCRNA00259;
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=16641997; DOI=10.1038/nature04728;
RA Muzny D.M., Scherer S.E., Kaul R., Wang J., Yu J., Sudbrak R., Buhay C.J.,
RA Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P.,
RA Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J., Jackson A.,
RA Khan Z.M., Kovar-Smith C., Lewis L.R., Lozado R.J., Metzker M.L.,
RA Milosavljevic A., Miner G.R., Morgan M.B., Nazareth L.V., Scott G.,
RA Sodergren E., Song X.-Z., Steffen D., Wei S., Wheeler D.A., Wright M.W.,
RA Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M.,
RA Brown M.J., Chen G., Chen Z., Clendenning J., Clerc-Blankenburg K.P.,
RA Chen R., Chen Z., Davis C., Delgado O., Dinh H.H., Dong W., Draper H.,
RA Ernst S., Fu G., Gonzalez-Garay M.L., Garcia D.K., Gillett W., Gu J.,
RA Hao B., Haugen E., Havlak P., He X., Hennig S., Hu S., Huang W.,
RA Jackson L.R., Jacob L.S., Kelly S.H., Kube M., Levy R., Li Z., Liu B.,
RA Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O.,
RA Palmeiri A., Pasternak S., Perez L.M., Phelps K.A., Plopper F.J., Qiang B.,
RA Raymond C., Rodriguez R., Saenphimmachak C., Santibanez J., Shen H.,
RA Shen Y., Subramanian S., Tabor P.E., Verduzco D., Waldron L., Wang J.,
RA Wang J., Wang Q., Williams G.A., Wong G.K.-S., Yao Z., Zhang J., Zhang X.,
RA Zhao G., Zhou J., Zhou Y., Nelson D., Lehrach H., Reinhardt R.,
RA Naylor S.L., Yang H., Olson M., Weinstock G., Gibbs R.A.;
RT "The DNA sequence, annotation and analysis of human chromosome 3.";
RL Nature 440:1194-1198(2006).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
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).
CC -!- CAUTION: Could be the product of a pseudogene. The N-terminus is
CC shorter and lacks the signal sequence compared to the mouse sequence,
CC suggesting it may not be functional. {ECO:0000305}.
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DR EMBL; AC058333; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC092954; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC105690; -; NOT_ANNOTATED_CDS; mRNA.
DR AlphaFoldDB; Q0D2K5; -.
DR iPTMnet; Q0D2K5; -.
DR PhosphoSitePlus; Q0D2K5; -.
DR BioMuta; HGNC:25149; -.
DR DMDM; 121940191; -.
DR PRIDE; Q0D2K5; -.
DR GeneCards; EGFEM1P; -.
DR HGNC; HGNC:25149; EGFEM1P.
DR neXtProt; NX_Q0D2K5; -.
DR InParanoid; Q0D2K5; -.
DR PhylomeDB; Q0D2K5; -.
DR ChiTaRS; EGFEM1P; human.
DR Pharos; Q0D2K5; Tdark.
DR Proteomes; UP000005640; Unplaced.
DR RNAct; Q0D2K5; protein.
DR PROSITE; PS00022; EGF_1; 1.
DR PROSITE; PS01186; EGF_2; 1.
PE 5: Uncertain;
KW EGF-like domain; Reference proteome.
FT CHAIN 1..195
FT /note="Putative EGF-like and EMI domain-containing protein
FT 1"
FT /id="PRO_0000340646"
FT DOMAIN 86..97
FT /note="EGF-like"
FT VARIANT 59
FT /note="G -> D (in dbSNP:rs603638)"
FT /id="VAR_044016"
FT VARIANT 157
FT /note="P -> L (in dbSNP:rs678690)"
FT /id="VAR_044017"
SQ SEQUENCE 195 AA; 21632 MW; C38E7944E17B543C CRC64;
MDELRWYHIT VCLDHIFGHN CSLSCKDCMN GGKCQEGKSE CSCPAGCRVI LCNENCLEGA
YGAGCTSECQ CVEENTLECS AKNGSCTCKS GYQGNRCQKD GLWGPEGWFS SAPCENGGQC
NKKTGNCDCT PDYTRKSCTI LRCISLTNLA LSRRSSPMKY QQNVSSHREV RQRQQCSSDR
PFKKLLCKFS FKIGM