APOL4_HUMAN
ID APOL4_HUMAN Reviewed; 351 AA.
AC Q9BPW4; Q9BQ37; Q9BXQ8;
DT 29-AUG-2001, integrated into UniProtKB/Swiss-Prot.
DT 03-APR-2007, sequence version 3.
DT 03-AUG-2022, entry version 136.
DE RecName: Full=Apolipoprotein L4;
DE AltName: Full=Apolipoprotein L-IV;
DE Short=ApoL-IV;
DE Flags: Precursor;
GN Name=APOL4;
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 [GENOMIC DNA / MRNA] (ISOFORMS 1 AND 2).
RC TISSUE=Pancreas;
RX PubMed=11290834;
RA Duchateau P.N., Pullinger C.R., Cho M.H., Eng C., Kane J.P.;
RT "Apolipoprotein L gene family: tissue-specific expression, splicing,
RT promoter regions; discovery of a new gene.";
RL J. Lipid Res. 42:620-630(2001).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3).
RC TISSUE=Placenta;
RX PubMed=11374903; DOI=10.1006/geno.2001.6534;
RA Page N.M., Butlin D.J., Lomthaisong K., Lowry P.J.;
RT "The human apolipoprotein L gene cluster: identification, classification,
RT and sites of distribution.";
RL Genomics 74:71-78(2001).
CC -!- FUNCTION: May play a role in lipid exchange and transport throughout
CC the body. May participate in reverse cholesterol transport from
CC peripheral cells to the liver (By similarity). {ECO:0000250}.
CC -!- SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1; Synonyms=B;
CC IsoId=Q9BPW4-1; Sequence=Displayed;
CC Name=2; Synonyms=A;
CC IsoId=Q9BPW4-2; Sequence=VSP_000295;
CC Name=3;
CC IsoId=Q9BPW4-3; Sequence=VSP_000295, VSP_024380;
CC -!- TISSUE SPECIFICITY: Widely expressed; the highest levels are in spinal
CC cord, placenta, adrenal gland; also detected in spleen, bone marrow,
CC uterus, trachea, mammary gland and testis; levels are low in brain,
CC heart and pancreas.
CC -!- SIMILARITY: Belongs to the apolipoprotein L family. {ECO:0000305}.
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DR EMBL; AY014915; AAG50353.1; -; mRNA.
DR EMBL; AY014913; AAG50350.1; -; Genomic_DNA.
DR EMBL; AY014909; AAG50350.1; JOINED; Genomic_DNA.
DR EMBL; AY014911; AAG50350.1; JOINED; Genomic_DNA.
DR EMBL; AY014912; AAG50350.1; JOINED; Genomic_DNA.
DR EMBL; AY014914; AAG50352.1; -; mRNA.
DR EMBL; AY014913; AAG50351.1; -; Genomic_DNA.
DR EMBL; AY014910; AAG50351.1; JOINED; Genomic_DNA.
DR EMBL; AY014911; AAG50351.1; JOINED; Genomic_DNA.
DR EMBL; AY014912; AAG50351.1; JOINED; Genomic_DNA.
DR EMBL; AF305226; AAK20212.1; -; mRNA.
DR CCDS; CCDS74851.1; -. [Q9BPW4-2]
DR CCDS; CCDS74852.1; -. [Q9BPW4-1]
DR RefSeq; NP_085146.2; NM_030643.4. [Q9BPW4-2]
DR RefSeq; NP_663693.1; NM_145660.2. [Q9BPW4-1]
DR AlphaFoldDB; Q9BPW4; -.
DR SMR; Q9BPW4; -.
DR BioGRID; 123325; 2.
DR IntAct; Q9BPW4; 1.
DR STRING; 9606.ENSP00000338260; -.
DR iPTMnet; Q9BPW4; -.
DR PhosphoSitePlus; Q9BPW4; -.
DR BioMuta; APOL4; -.
DR DMDM; 143811364; -.
DR MassIVE; Q9BPW4; -.
DR PaxDb; Q9BPW4; -.
DR PeptideAtlas; Q9BPW4; -.
DR PRIDE; Q9BPW4; -.
DR ProteomicsDB; 78577; -. [Q9BPW4-1]
DR ProteomicsDB; 78578; -. [Q9BPW4-2]
DR ProteomicsDB; 78579; -. [Q9BPW4-3]
DR Antibodypedia; 25529; 214 antibodies from 34 providers.
DR DNASU; 80832; -.
DR Ensembl; ENST00000332987.5; ENSP00000333229.2; ENSG00000100336.18. [Q9BPW4-2]
DR Ensembl; ENST00000352371.5; ENSP00000338260.3; ENSG00000100336.18. [Q9BPW4-1]
DR Ensembl; ENST00000457630.7; ENSP00000409085.3; ENSG00000100336.18. [Q9BPW4-2]
DR Ensembl; ENST00000616056.4; ENSP00000483497.1; ENSG00000100336.18. [Q9BPW4-2]
DR Ensembl; ENST00000683024.1; ENSP00000507418.1; ENSG00000100336.18. [Q9BPW4-2]
DR Ensembl; ENST00000684666.1; ENSP00000506782.1; ENSG00000100336.18. [Q9BPW4-2]
DR GeneID; 80832; -.
DR KEGG; hsa:80832; -.
DR MANE-Select; ENST00000683024.1; ENSP00000507418.1; NM_001386885.1; NP_001373814.1. [Q9BPW4-2]
DR UCSC; uc032qne.2; human. [Q9BPW4-1]
DR CTD; 80832; -.
DR DisGeNET; 80832; -.
DR GeneCards; APOL4; -.
DR HGNC; HGNC:14867; APOL4.
DR HPA; ENSG00000100336; Low tissue specificity.
DR MalaCards; APOL4; -.
DR MIM; 607254; gene.
DR neXtProt; NX_Q9BPW4; -.
DR OpenTargets; ENSG00000100336; -.
DR PharmGKB; PA24907; -.
DR VEuPathDB; HostDB:ENSG00000100336; -.
DR eggNOG; ENOG502RZGU; Eukaryota.
DR GeneTree; ENSGT01030000234599; -.
DR HOGENOM; CLU_046288_1_0_1; -.
DR InParanoid; Q9BPW4; -.
DR OMA; QTLEEWN; -.
DR OrthoDB; 1060131at2759; -.
DR PhylomeDB; Q9BPW4; -.
DR PathwayCommons; Q9BPW4; -.
DR SignaLink; Q9BPW4; -.
DR BioGRID-ORCS; 80832; 11 hits in 282 CRISPR screens.
DR ChiTaRS; APOL4; human.
DR GenomeRNAi; 80832; -.
DR Pharos; Q9BPW4; Tdark.
DR PRO; PR:Q9BPW4; -.
DR Proteomes; UP000005640; Chromosome 22.
DR RNAct; Q9BPW4; protein.
DR Bgee; ENSG00000100336; Expressed in adenohypophysis and 140 other tissues.
DR ExpressionAtlas; Q9BPW4; baseline and differential.
DR Genevisible; Q9BPW4; HS.
DR GO; GO:0005615; C:extracellular space; ISS:BHF-UCL.
DR GO; GO:0043231; C:intracellular membrane-bounded organelle; IDA:HPA.
DR GO; GO:0008289; F:lipid binding; IBA:GO_Central.
DR GO; GO:0006629; P:lipid metabolic process; NAS:UniProtKB.
DR GO; GO:0006869; P:lipid transport; IEA:UniProtKB-KW.
DR GO; GO:0042157; P:lipoprotein metabolic process; IEA:InterPro.
DR InterPro; IPR008405; ApoL.
DR PANTHER; PTHR14096; PTHR14096; 1.
DR Pfam; PF05461; ApoL; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; Lipid transport; Reference proteome; Secreted;
KW Signal; Transport.
FT SIGNAL 1..21
FT /evidence="ECO:0000255"
FT CHAIN 22..351
FT /note="Apolipoprotein L4"
FT /id="PRO_0000002041"
FT VAR_SEQ 1..15
FT /note="MEGAALLKIFVVCIW -> MGSWVQLITSVG (in isoform 2 and
FT isoform 3)"
FT /evidence="ECO:0000303|PubMed:11290834,
FT ECO:0000303|PubMed:11374903"
FT /id="VSP_000295"
FT VAR_SEQ 111
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:11374903"
FT /id="VSP_024380"
FT VARIANT 9
FT /note="I -> V (in dbSNP:rs132736)"
FT /id="VAR_053008"
FT VARIANT 12
FT /note="V -> L (in dbSNP:rs80587)"
FT /id="VAR_053009"
FT VARIANT 159
FT /note="M -> V (in dbSNP:rs132700)"
FT /id="VAR_053010"
FT VARIANT 223
FT /note="R -> H (in dbSNP:rs2227168)"
FT /id="VAR_059966"
FT VARIANT 319
FT /note="A -> E (in dbSNP:rs6000173)"
FT /id="VAR_059967"
FT VARIANT 326
FT /note="S -> L (in dbSNP:rs6000172)"
FT /id="VAR_059968"
SQ SEQUENCE 351 AA; 39164 MW; E8EC440BA0292412 CRC64;
MEGAALLKIF VVCIWVQQNH PGWTVAGQFQ EKKRFTEEVI EYFQKKVSPV HLKILLTSDE
AWKRFVRVAE LPREEADALY EALKNLTPYV AIEDKDMQQK EQQFREWFLK EFPQIRWKIQ
ESIERLRVIA NEIEKVHRGC VIANVVSGST GILSVIGVML APFTAGLSLS ITAAGVGLGI
ASATAGIASS IVENTYTRSA ELTASRLTAT STDQLEALRD ILRDITPNVL SFALDFDEAT
KMIANDVHTL RRSKATVGRP LIAWRYVPIN VVETLRTRGA PTRIVRKVAR NLGKATSGVL
VVLDVVNLVQ DSLDLHKGAK SESAESLRQW AQELEENLNE LTHIHQSLKA G
