AEGP_HUMAN
ID AEGP_HUMAN Reviewed; 1216 AA.
AC Q6UXC1; A2A3D4; B0QZ81; Q5T5S2; Q8NCX7;
DT 15-MAY-2007, integrated into UniProtKB/Swiss-Prot.
DT 15-MAY-2007, sequence version 2.
DT 03-AUG-2022, entry version 131.
DE RecName: Full=Apical endosomal glycoprotein;
DE AltName: Full=MAM domain-containing protein 4;
DE Flags: Precursor;
GN Name=MAMDC4 {ECO:0000312|HGNC:HGNC:24083}; Synonyms=AEGP;
GN ORFNames=UNQ3001/PRO9742;
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] {ECO:0000305, ECO:0000312|EMBL:AAQ88785.1}
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), AND VARIANT GLY-987.
RX PubMed=12975309; DOI=10.1101/gr.1293003;
RA Clark H.F., Gurney A.L., Abaya E., Baker K., Baldwin D.T., Brush J.,
RA Chen J., Chow B., Chui C., Crowley C., Currell B., Deuel B., Dowd P.,
RA Eaton D., Foster J.S., Grimaldi C., Gu Q., Hass P.E., Heldens S., Huang A.,
RA Kim H.S., Klimowski L., Jin Y., Johnson S., Lee J., Lewis L., Liao D.,
RA Mark M.R., Robbie E., Sanchez C., Schoenfeld J., Seshagiri S., Simmons L.,
RA Singh J., Smith V., Stinson J., Vagts A., Vandlen R.L., Watanabe C.,
RA Wieand D., Woods K., Xie M.-H., Yansura D.G., Yi S., Yu G., Yuan J.,
RA Zhang M., Zhang Z., Goddard A.D., Wood W.I., Godowski P.J., Gray A.M.;
RT "The secreted protein discovery initiative (SPDI), a large-scale effort to
RT identify novel human secreted and transmembrane proteins: a bioinformatics
RT assessment.";
RL Genome Res. 13:2265-2270(2003).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15164053; DOI=10.1038/nature02465;
RA Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L.,
RA Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R.,
RA Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S.,
RA Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K.,
RA Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y.,
RA Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C.,
RA Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E.,
RA Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M.,
RA Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J.,
RA Frankish A., Frankland J.A., French L., Fricker D.G., Garner P.,
RA Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S.,
RA Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E.,
RA Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D.,
RA Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E.,
RA Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K.,
RA Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S.,
RA Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J.,
RA Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E.,
RA McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V.,
RA Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S.,
RA Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K.,
RA Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J.,
RA Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M.,
RA West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L.,
RA Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M.,
RA Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J.,
RA Dunham I.;
RT "DNA sequence and analysis of human chromosome 9.";
RL Nature 429:369-374(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 725-1216 (ISOFORM 3), AND VARIANT
RP GLY-987.
RC TISSUE=Testis;
RX PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D.,
RA Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A.,
RA Wiemann S., Schupp I.;
RT "The full-ORF clone resource of the German cDNA consortium.";
RL BMC Genomics 8:399-399(2007).
RN [5]
RP VARIANTS [LARGE SCALE ANALYSIS] THR-244 AND TRP-1174.
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., Buckhaults P.,
RA Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V.,
RA Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H.,
RA Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W.,
RA Velculescu V.E.;
RT "The consensus coding sequences of human breast and colorectal cancers.";
RL Science 314:268-274(2006).
CC -!- FUNCTION: Probably involved in the sorting and selective transport of
CC receptors and ligands across polarized epithelia.
CC {ECO:0000250|UniProtKB:Q63191}.
CC -!- SUBCELLULAR LOCATION: Membrane {ECO:0000250}; Single-pass type I
CC membrane protein {ECO:0000250}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1 {ECO:0000269|PubMed:15164053};
CC IsoId=Q6UXC1-1; Sequence=Displayed;
CC Name=2 {ECO:0000269|PubMed:12975309};
CC IsoId=Q6UXC1-2; Sequence=VSP_052395;
CC Name=3;
CC IsoId=Q6UXC1-3; Sequence=VSP_026431, VSP_026432;
CC -!- MISCELLANEOUS: [Isoform 1]: Gene prediction based on similarity to rat
CC ortholog.
CC -!- MISCELLANEOUS: [Isoform 3]: May be due to intron retention.
CC {ECO:0000305}.
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DR EMBL; AY358419; AAQ88785.1; -; mRNA.
DR EMBL; AL355987; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471090; EAW88294.1; -; Genomic_DNA.
DR EMBL; AL834531; CAD39187.1; -; mRNA.
DR CCDS; CCDS7010.1; -. [Q6UXC1-2]
DR RefSeq; NP_996803.2; NM_206920.2. [Q6UXC1-2]
DR AlphaFoldDB; Q6UXC1; -.
DR SMR; Q6UXC1; -.
DR BioGRID; 127643; 157.
DR IntAct; Q6UXC1; 1.
DR STRING; 9606.ENSP00000319388; -.
DR GlyGen; Q6UXC1; 6 sites.
DR iPTMnet; Q6UXC1; -.
DR PhosphoSitePlus; Q6UXC1; -.
DR BioMuta; MAMDC4; -.
DR DMDM; 147742916; -.
DR MassIVE; Q6UXC1; -.
DR MaxQB; Q6UXC1; -.
DR PaxDb; Q6UXC1; -.
DR PeptideAtlas; Q6UXC1; -.
DR PRIDE; Q6UXC1; -.
DR ProteomicsDB; 67588; -. [Q6UXC1-1]
DR ProteomicsDB; 67589; -. [Q6UXC1-2]
DR ProteomicsDB; 67590; -. [Q6UXC1-3]
DR Antibodypedia; 64043; 9 antibodies from 7 providers.
DR DNASU; 158056; -.
DR Ensembl; ENST00000317446.7; ENSP00000319388.2; ENSG00000177943.14. [Q6UXC1-2]
DR Ensembl; ENST00000445819.5; ENSP00000411339.1; ENSG00000177943.14. [Q6UXC1-1]
DR GeneID; 158056; -.
DR KEGG; hsa:158056; -.
DR MANE-Select; ENST00000317446.7; ENSP00000319388.2; NM_206920.3; NP_996803.2. [Q6UXC1-2]
DR UCSC; uc004cjs.4; human. [Q6UXC1-1]
DR CTD; 158056; -.
DR DisGeNET; 158056; -.
DR GeneCards; MAMDC4; -.
DR HGNC; HGNC:24083; MAMDC4.
DR HPA; ENSG00000177943; Tissue enhanced (liver).
DR neXtProt; NX_Q6UXC1; -.
DR OpenTargets; ENSG00000177943; -.
DR PharmGKB; PA142671487; -.
DR VEuPathDB; HostDB:ENSG00000177943; -.
DR eggNOG; KOG1095; Eukaryota.
DR GeneTree; ENSGT00940000162046; -.
DR HOGENOM; CLU_008233_0_0_1; -.
DR InParanoid; Q6UXC1; -.
DR OMA; QNAWLLS; -.
DR OrthoDB; 72691at2759; -.
DR PhylomeDB; Q6UXC1; -.
DR TreeFam; TF330345; -.
DR PathwayCommons; Q6UXC1; -.
DR SignaLink; Q6UXC1; -.
DR BioGRID-ORCS; 158056; 16 hits in 1078 CRISPR screens.
DR GenomeRNAi; 158056; -.
DR Pharos; Q6UXC1; Tdark.
DR PRO; PR:Q6UXC1; -.
DR Proteomes; UP000005640; Chromosome 9.
DR RNAct; Q6UXC1; protein.
DR Bgee; ENSG00000177943; Expressed in right hemisphere of cerebellum and 104 other tissues.
DR ExpressionAtlas; Q6UXC1; baseline and differential.
DR Genevisible; Q6UXC1; HS.
DR GO; GO:0005794; C:Golgi apparatus; IBA:GO_Central.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0015031; P:protein transport; IEA:UniProtKB-KW.
DR CDD; cd00112; LDLa; 2.
DR CDD; cd06263; MAM; 6.
DR Gene3D; 4.10.400.10; -; 2.
DR InterPro; IPR013320; ConA-like_dom_sf.
DR InterPro; IPR036055; LDL_receptor-like_sf.
DR InterPro; IPR023415; LDLR_class-A_CS.
DR InterPro; IPR002172; LDrepeatLR_classA_rpt.
DR InterPro; IPR000998; MAM_dom.
DR Pfam; PF00057; Ldl_recept_a; 1.
DR Pfam; PF00629; MAM; 6.
DR PRINTS; PR00261; LDLRECEPTOR.
DR SMART; SM00192; LDLa; 3.
DR SMART; SM00137; MAM; 6.
DR SUPFAM; SSF49899; SSF49899; 6.
DR SUPFAM; SSF57424; SSF57424; 1.
DR PROSITE; PS01209; LDLRA_1; 2.
DR PROSITE; PS50068; LDLRA_2; 2.
DR PROSITE; PS50060; MAM_2; 6.
PE 2: Evidence at transcript level;
KW Alternative splicing; Disulfide bond; Glycoprotein; Membrane;
KW Protein transport; Reference proteome; Repeat; Signal; Transmembrane;
KW Transmembrane helix; Transport.
FT SIGNAL 1..22
FT /evidence="ECO:0000255"
FT CHAIN 23..1216
FT /note="Apical endosomal glycoprotein"
FT /id="PRO_0000286578"
FT TOPO_DOM 23..1151
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 1152..1172
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 1173..1216
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT DOMAIN 26..53
FT /note="LDL-receptor class A 1; truncated"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00124"
FT DOMAIN 64..222
FT /note="MAM 1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00128"
FT DOMAIN 228..266
FT /note="LDL-receptor class A 2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00124"
FT DOMAIN 269..425
FT /note="MAM 2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00128"
FT DOMAIN 456..491
FT /note="LDL-receptor class A 3"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00124"
FT DOMAIN 491..644
FT /note="MAM 3"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00128"
FT DOMAIN 654..809
FT /note="MAM 4"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00128"
FT DOMAIN 811..969
FT /note="MAM 5"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00128"
FT DOMAIN 971..1138
FT /note="MAM 6"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00128"
FT REGION 280..307
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 429..455
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 289..304
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 435..449
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT CARBOHYD 203
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 281
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 339
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 583
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 636
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 835
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT DISULFID 229..241
FT /evidence="ECO:0000250|UniProtKB:P01130,
FT ECO:0000255|PROSITE-ProRule:PRU00124"
FT DISULFID 236..254
FT /evidence="ECO:0000250|UniProtKB:P01130,
FT ECO:0000255|PROSITE-ProRule:PRU00124"
FT DISULFID 248..265
FT /evidence="ECO:0000250|UniProtKB:P01130,
FT ECO:0000255|PROSITE-ProRule:PRU00124"
FT DISULFID 457..468
FT /evidence="ECO:0000250|UniProtKB:P01130,
FT ECO:0000255|PROSITE-ProRule:PRU00124"
FT DISULFID 464..481
FT /evidence="ECO:0000250|UniProtKB:P01130,
FT ECO:0000255|PROSITE-ProRule:PRU00124"
FT DISULFID 475..490
FT /evidence="ECO:0000250|UniProtKB:P01130,
FT ECO:0000255|PROSITE-ProRule:PRU00124"
FT VAR_SEQ 573..651
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:12975309"
FT /id="VSP_052395"
FT VAR_SEQ 942..960
FT /note="VFEAVAAGVAHSYVALDDL -> SAGWGAPPPPPPPRAAWTR (in
FT isoform 3)"
FT /evidence="ECO:0000303|PubMed:17974005"
FT /id="VSP_026431"
FT VAR_SEQ 961..1216
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:17974005"
FT /id="VSP_026432"
FT VARIANT 244
FT /note="P -> T (in a breast cancer sample; somatic mutation;
FT dbSNP:rs755530502)"
FT /evidence="ECO:0000269|PubMed:16959974"
FT /id="VAR_035778"
FT VARIANT 987
FT /note="W -> G (in dbSNP:rs2275156)"
FT /evidence="ECO:0000269|PubMed:12975309,
FT ECO:0000269|PubMed:17974005"
FT /id="VAR_032128"
FT VARIANT 1174
FT /note="R -> W (in a breast cancer sample; somatic mutation;
FT dbSNP:rs138623341)"
FT /evidence="ECO:0000269|PubMed:16959974"
FT /id="VAR_035779"
SQ SEQUENCE 1216 AA; 131499 MW; 6E2957EDE7AD2465 CRC64;
MPLSSHLLPA LVLFLAGSSG WAWVPNHCRS PGQAVCNFVC DCRDCSDEAQ CGYHGASPTL
GAPFACDFEQ DPCGWRDIST SGYSWLRDRA GAALEGPGPH SDHTLGTDLG WYMAVGTHRG
KEASTAALRS PTLREAASSC KLRLWYHAAS GDVAELRVEL THGAETLTLW QSTGPWGPGW
QELAVTTGRI RGDFRVTFSA TRNATHRGAV ALDDLEFWDC GLPTPQANCP PGHHHCQNKV
CVEPQQLCDG EDNCGDLSDE NPLTCGRHIA TDFETGLGPW NRSEGWSRNH RAGGPERPSW
PRRDHSRNSA QGSFLVSVAE PGTPAILSSP EFQASGTSNC SLVFYQYLSG SEAGCLQLFL
QTLGPGAPRA PVLLRRRRGE LGTAWVRDRV DIQSAYPFQI LLAGQTGPGG VVGLDDLILS
DHCRPVSEVS TLQPLPPGPR APAPQPLPPS SRLQDSCKQG HLACGDLCVP PEQLCDFEEQ
CAGGEDEQAC GTTDFESPEA GGWEDASVGR LQWRRVSAQE SQGSSAAAAG HFLSLQRAWG
QLGAEARVLT PLLGPSGPSC ELHLAYYLQS QPRGFLALVV VDNGSRELAW QALSSSAGIW
KVDKVLLGAR RRPFRLEFVG LVDLDGPDQQ GAGVDNVTLR DCSPTVTTER DREVSCNFER
DTCSWYPGHL SDTHWRWVES RGPDHDHTTG QGHFVLLDPT DPLAWGHSAH LLSRPQVPAA
PTECLSFWYH LHGPQIGTLR LAMRREGEET HLWSRSGTQG NRWHEAWATL SHQPGSHAQY
QLLFEGLRDG YHGTMALDDV AVRPGPCWAP NYCSFEDSDC GFSPGGQGLW RRQANASGHA
AWGPPTDHTT ETAQGHYMVV DTSPDALPRG QTASLTSKEH RPLAQPACLT FWYHGSLRSP
GTLRVYLEER GRHQVLSLSA HGGLAWRLGS MDVQAERAWR VVFEAVAAGV AHSYVALDDL
LLQDGPCPQP GSCDFESGLC GWSHLAWPGL GGYSWDWGGG ATPSRYPQPP VDHTLGTEAG
HFAFFETGVL GPGGRAAWLR SEPLPATPAS CLRFWYHMGF PEHFYKGELK VLLHSAQGQL
AVWGAGGHRR HQWLEAQVEV ASAKEFQIVF EATLGGQPAL GPIALDDVEY LAGQHCQQPA
PSPGNTAAPG SVPAVVGSAL LLLMLLVLLG LGGRRWLQKK GSCPFQSNTE ATAPGFDNIL
FNADGVTLPA SVTSDP
