Q96LR9 (APLD1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Apolipoprotein L domain-containing protein 1

Alternative name(s):
Vascular early response gene protein

Gene names

Name:	APOLD1
Synonyms:	VERGE

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	279 AA.
Sequence status	Complete.
Protein existence	Evidence at transcript level

General annotation (Comments)

Function	May be involved in angiogenesis. May play a role in activity-dependent changes of brain vasculature. May affect blood-brain permeability. Ref.4
Subcellular location	Cell membrane; Multi-pass membrane protein Probable Ref.4.
Tissue specificity	Expressed in neonatal dermal microvascular endothelial cells. Ref.4
Induction	In neonatal dermal microvascular endothelial cells, by hypoxia. Ref.4
Sequence similarities	Belongs to the apolipoprotein L family.
Sequence caution	The sequence AAH42478.1 differs from that shown. Reason: Erroneous initiation.

Ontologies

Keywords
Biological process	Angiogenesis Differentiation
Cellular component	Cell membrane Membrane
Coding sequence diversity	Alternative splicing
Domain	Coiled coil Transmembrane Transmembrane helix
Molecular function	Developmental protein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	angiogenesis Inferred from electronic annotation. Source: UniProtKB-KW cell differentiation Inferred from electronic annotation. Source: UniProtKB-KW endothelial cell activation Inferred from electronic annotation. Source: Compara lipid transport Inferred from electronic annotation. Source: InterPro lipoprotein metabolic process Inferred from electronic annotation. Source: InterPro regulation of endothelial cell differentiation Inferred from electronic annotation. Source: Compara response to hypoxia Inferred from electronic annotation. Source: Compara
Cellular_component	extracellular region Inferred from electronic annotation. Source: InterPro integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW plasma membrane Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular_function	lipid binding Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q96LR9-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

Note: No experimental confirmation available.

Isoform 2 (identifier: Q96LR9-2)

The sequence of this isoform differs from the canonical sequence as follows:
     2-32: Missing.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 279	279	Apolipoprotein L domain-containing protein 1		PRO_0000247275
Regions
	Transmembrane	83 – 105	23	Helical; Potential
	Transmembrane	122 – 142	21	Helical; Potential
	Transmembrane	192 – 212	21	Helical; Potential
	Coiled coil	226 – 253	28	Potential
	Compositional bias	3 – 82	80	Arg-rich
Natural variations
	Alternative sequence	2 – 32	31	Missing in isoform 2.		VSP_019960
Experimental info
	Sequence conflict	64	1	G → R in CAB66717. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified July 25, 2006. Version 2. Checksum: E2CDA210C1FD80C3	FASTA	279	30,546
	10 20 30 40 50 60 MFRAPCHRLR ARGTRKARAG AWRGCTFPCL GKGMERPAAR EPHGPDALRR FQGLLLDRRG 70 80 90 100 110 120 RLHGQVLRLR EVARRLERLR RRSLVANVAG SSLSATGALA AIVGLSLSPV TLGTSLLVSA 130 140 150 160 170 180 VGLGVATAGG AVTITSDLSL IFCNSRELRR VQEIAATCQD QMREILSCLE FFCRWQGCGD 190 200 210 220 230 240 RQLLQCGRNA SIALYNSVYF IVFFGSRGFL IPRRAEGDTK VSQAVLKAKI QKLAESLESC 250 260 270 TGALDELSEQ LESRVQLCTK SSRGHDLKIS ADQRAGLFF
	Isoform 2 [UniParc]. Checksum: 291DE656CDC04338	FASTA	248	27,063
	10 20 30 40 50 60 MGMERPAARE PHGPDALRRF QGLLLDRRGR LHGQVLRLRE VARRLERLRR RSLVANVAGS 70 80 90 100 110 120 SLSATGALAA IVGLSLSPVT LGTSLLVSAV GLGVATAGGA VTITSDLSLI FCNSRELRRV 130 140 150 160 170 180 QEIAATCQDQ MREILSCLEF FCRWQGCGDR QLLQCGRNAS IALYNSVYFI VFFGSRGFLI 190 200 210 220 230 240 PRRAEGDTKV SQAVLKAKIQ KLAESLESCT GALDELSEQL ESRVQLCTKS SRGHDLKISA DQRAGLFF

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs." Wiemann S., Weil B., Wellenreuther R., Gassenhuber J., Glassl S., Ansorge W., Boecher M., Bloecker H., Bauersachs S., Blum H., Lauber J., Duesterhoeft A., Beyer A., Koehrer K., Strack N., Mewes H.-W., Ottenwaelder B., Obermaier B. , Tampe J., Heubner D., Wambutt R., Korn B., Klein M., Poustka A. Genome Res. 11:422-435(2001) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2). Tissue: Testis.
[2]	"Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S. Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2). Tissue: Brain.
[3]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). Tissue: Eye.
[4]	"Verge: a novel vascular early response gene." Regard J.B., Scheek S., Borbiev T., Lanahan A.A., Schneider A., Demetriades A.-M., Hiemisch H., Barnes C.A., Verin A.D., Worley P.F. J. Neurosci. 24:4092-4103(2004) [PubMed] [Europe PMC] [Abstract] Cited for: FUNCTION, INDUCTION, TISSUE SPECIFICITY, SUBCELLULAR LOCATION.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AL136783 mRNA. Translation: CAB66717.1. AK057867 mRNA. Translation: BAB71601.1. BC042478 mRNA. Translation: AAH42478.1. Different initiation.
IPI	IPI00238434. IPI00477218.
RefSeq	NP_001123887.1. NM_001130415.1. NP_110444.3. NM_030817.2.
UniGene	Hs.23388. Hs.719938.
3D structure databases
ProteinModelPortal	Q96LR9.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000324277.
Polymorphism databases
DMDM	110832749.
Proteomic databases
PaxDb	Q96LR9.
PRIDE	Q96LR9.
Protocols and materials databases
DNASU	81575.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000326765; ENSP00000324277; ENSG00000178878. ENST00000356591; ENSP00000348998; ENSG00000178878.
GeneID	81575.
KEGG	hsa:81575.
UCSC	uc001rau.4. human.
Organism-specific databases
CTD	81575.
GeneCards	GC12P012879.
HGNC	HGNC:25268. APOLD1.
HPA	HPA052462.
MIM	612456. gene.
neXtProt	NX_Q96LR9.
PharmGKB	PA143485306.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG40567.
HOGENOM	HOG000092978.
HOVERGEN	HBG079426.
InParanoid	Q96LR9.
OMA	TFPCLGK.
OrthoDB	EOG44F6B7.
Gene expression databases
ArrayExpress	Q96LR9.
Bgee	Q96LR9.
Genevestigator	Q96LR9.
GermOnline	ENSG00000178878. Homo sapiens.
Family and domain databases
InterPro	IPR008405. ApoL. [Graphical view]
PANTHER	PTHR14096. PTHR14096. 1 hit.
Pfam	PF05461. ApoL. 1 hit. [Graphical view]
ProtoNet	Search...
Other
ChiTaRS	APOLD1. human.
GenomeRNAi	81575.
NextBio	71884.
SOURCE	Search...

Entry information

Entry name

APLD1_HUMAN

Accession

Primary (citable) accession number: Q96LR9
Secondary accession number(s): Q8IVR2, Q9H0I5

Entry history

Integrated into UniProtKB/Swiss-Prot:	July 25, 2006
Last sequence update:	July 25, 2006
Last modified:	May 1, 2013
This is version 78 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.