APLD1_HUMAN
ID APLD1_HUMAN Reviewed; 279 AA.
AC Q96LR9; Q8IVR2; Q9H0I5;
DT 25-JUL-2006, integrated into UniProtKB/Swiss-Prot.
DT 25-JUL-2006, sequence version 2.
DT 03-AUG-2022, entry version 127.
DE RecName: Full=Apolipoprotein L domain-containing protein 1;
DE AltName: Full=Vascular early response gene protein;
GN Name=APOLD1; Synonyms=VERGE;
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 MRNA] (ISOFORM 2).
RC TISSUE=Testis;
RX PubMed=11230166; DOI=10.1101/gr.gr1547r;
RA Wiemann S., Weil B., Wellenreuther R., Gassenhuber J., Glassl S.,
RA Ansorge W., Boecher M., Bloecker H., Bauersachs S., Blum H., Lauber J.,
RA Duesterhoeft A., Beyer A., Koehrer K., Strack N., Mewes H.-W.,
RA Ottenwaelder B., Obermaier B., Tampe J., Heubner D., Wambutt R., Korn B.,
RA Klein M., Poustka A.;
RT "Towards a catalog of human genes and proteins: sequencing and analysis of
RT 500 novel complete protein coding human cDNAs.";
RL Genome Res. 11:422-435(2001).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Brain;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Eye;
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 [4]
RP FUNCTION, INDUCTION, TISSUE SPECIFICITY, AND SUBCELLULAR LOCATION.
RX PubMed=15102925; DOI=10.1523/jneurosci.4252-03.2004;
RA Regard J.B., Scheek S., Borbiev T., Lanahan A.A., Schneider A.,
RA Demetriades A.-M., Hiemisch H., Barnes C.A., Verin A.D., Worley P.F.;
RT "Verge: a novel vascular early response gene.";
RL J. Neurosci. 24:4092-4103(2004).
CC -!- FUNCTION: May be involved in angiogenesis. May play a role in activity-
CC dependent changes of brain vasculature. May affect blood-brain
CC permeability. {ECO:0000269|PubMed:15102925}.
CC -!- SUBCELLULAR LOCATION: Cell membrane {ECO:0000305|PubMed:15102925};
CC Multi-pass membrane protein {ECO:0000305|PubMed:15102925}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q96LR9-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q96LR9-2; Sequence=VSP_019960;
CC -!- TISSUE SPECIFICITY: Expressed in neonatal dermal microvascular
CC endothelial cells. {ECO:0000269|PubMed:15102925}.
CC -!- INDUCTION: In neonatal dermal microvascular endothelial cells, by
CC hypoxia. {ECO:0000269|PubMed:15102925}.
CC -!- SIMILARITY: Belongs to the apolipoprotein L family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAH42478.1; Type=Erroneous initiation; Evidence={ECO:0000305};
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DR EMBL; AL136783; CAB66717.1; -; mRNA.
DR EMBL; AK057867; BAB71601.1; -; mRNA.
DR EMBL; BC042478; AAH42478.1; ALT_INIT; mRNA.
DR CCDS; CCDS44833.1; -. [Q96LR9-1]
DR CCDS; CCDS8654.1; -. [Q96LR9-2]
DR RefSeq; NP_001123887.1; NM_001130415.1. [Q96LR9-1]
DR RefSeq; NP_110444.3; NM_030817.2. [Q96LR9-2]
DR AlphaFoldDB; Q96LR9; -.
DR BioGRID; 123535; 6.
DR STRING; 9606.ENSP00000324277; -.
DR GlyGen; Q96LR9; 3 sites, 1 O-linked glycan (3 sites).
DR iPTMnet; Q96LR9; -.
DR PhosphoSitePlus; Q96LR9; -.
DR BioMuta; APOLD1; -.
DR DMDM; 110832749; -.
DR PaxDb; Q96LR9; -.
DR PeptideAtlas; Q96LR9; -.
DR PRIDE; Q96LR9; -.
DR Antibodypedia; 11908; 87 antibodies from 24 providers.
DR DNASU; 81575; -.
DR Ensembl; ENST00000326765.10; ENSP00000324277.6; ENSG00000178878.13. [Q96LR9-1]
DR Ensembl; ENST00000356591.5; ENSP00000348998.4; ENSG00000178878.13. [Q96LR9-2]
DR GeneID; 81575; -.
DR KEGG; hsa:81575; -.
DR MANE-Select; ENST00000356591.5; ENSP00000348998.4; NM_030817.3; NP_110444.3. [Q96LR9-2]
DR UCSC; uc001rau.5; human. [Q96LR9-1]
DR CTD; 81575; -.
DR DisGeNET; 81575; -.
DR GeneCards; APOLD1; -.
DR HGNC; HGNC:25268; APOLD1.
DR HPA; ENSG00000178878; Tissue enhanced (adipose).
DR MIM; 612456; gene.
DR neXtProt; NX_Q96LR9; -.
DR OpenTargets; ENSG00000178878; -.
DR PharmGKB; PA143485306; -.
DR VEuPathDB; HostDB:ENSG00000178878; -.
DR eggNOG; ENOG502S2T4; Eukaryota.
DR GeneTree; ENSGT01030000234599; -.
DR HOGENOM; CLU_086689_0_0_1; -.
DR InParanoid; Q96LR9; -.
DR OMA; CNSREVR; -.
DR OrthoDB; 1299849at2759; -.
DR PhylomeDB; Q96LR9; -.
DR TreeFam; TF334681; -.
DR PathwayCommons; Q96LR9; -.
DR BioGRID-ORCS; 81575; 12 hits in 1065 CRISPR screens.
DR ChiTaRS; APOLD1; human.
DR GeneWiki; APOLD1_(gene); -.
DR GenomeRNAi; 81575; -.
DR Pharos; Q96LR9; Tdark.
DR PRO; PR:Q96LR9; -.
DR Proteomes; UP000005640; Chromosome 12.
DR RNAct; Q96LR9; protein.
DR Bgee; ENSG00000178878; Expressed in endothelial cell and 185 other tissues.
DR ExpressionAtlas; Q96LR9; baseline and differential.
DR Genevisible; Q96LR9; HS.
DR GO; GO:0005576; C:extracellular region; IEA:InterPro.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0005886; C:plasma membrane; IEA:UniProtKB-SubCell.
DR GO; GO:0008289; F:lipid binding; IBA:GO_Central.
DR GO; GO:0001525; P:angiogenesis; IBA:GO_Central.
DR GO; GO:0030154; P:cell differentiation; IEA:UniProtKB-KW.
DR GO; GO:0006869; P:lipid transport; IEA:InterPro.
DR GO; GO:0042157; P:lipoprotein metabolic process; IEA:InterPro.
DR GO; GO:0045601; P:regulation of endothelial cell differentiation; IBA:GO_Central.
DR InterPro; IPR008405; ApoL.
DR PANTHER; PTHR14096; PTHR14096; 1.
DR Pfam; PF05461; ApoL; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; Angiogenesis; Cell membrane; Coiled coil;
KW Developmental protein; Differentiation; Membrane; Reference proteome;
KW Transmembrane; Transmembrane helix.
FT CHAIN 1..279
FT /note="Apolipoprotein L domain-containing protein 1"
FT /id="PRO_0000247275"
FT TRANSMEM 83..105
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 122..142
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 192..212
FT /note="Helical"
FT /evidence="ECO:0000255"
FT COILED 226..253
FT /evidence="ECO:0000255"
FT VAR_SEQ 2..32
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:11230166,
FT ECO:0000303|PubMed:14702039"
FT /id="VSP_019960"
FT CONFLICT 64
FT /note="G -> R (in Ref. 1; CAB66717)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 279 AA; 30546 MW; E2CDA210C1FD80C3 CRC64;
MFRAPCHRLR ARGTRKARAG AWRGCTFPCL GKGMERPAAR EPHGPDALRR FQGLLLDRRG
RLHGQVLRLR EVARRLERLR RRSLVANVAG SSLSATGALA AIVGLSLSPV TLGTSLLVSA
VGLGVATAGG AVTITSDLSL IFCNSRELRR VQEIAATCQD QMREILSCLE FFCRWQGCGD
RQLLQCGRNA SIALYNSVYF IVFFGSRGFL IPRRAEGDTK VSQAVLKAKI QKLAESLESC
TGALDELSEQ LESRVQLCTK SSRGHDLKIS ADQRAGLFF
