VISL1_HUMAN
ID VISL1_HUMAN Reviewed; 191 AA.
AC P62760; D6W515; P28677; P29103; P42323; Q9UM20;
DT 16-AUG-2004, integrated into UniProtKB/Swiss-Prot.
DT 23-JAN-2007, sequence version 2.
DT 03-AUG-2022, entry version 146.
DE RecName: Full=Visinin-like protein 1;
DE Short=VILIP;
DE Short=VLP-1;
DE AltName: Full=Hippocalcin-like protein 3;
DE Short=HLP3;
GN Name=VSNL1; Synonyms=VISL1;
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 [MRNA], AND VARIANTS GLY-65 AND ARG-172.
RX PubMed=8530085; DOI=10.1006/geno.1995.1244;
RA Polymeropoulos M.H., Ide S., Soares M.B., Lennon G.G.;
RT "Sequence characterization and genetic mapping of the human VSNL1 gene, a
RT homologue of the rat visinin-like peptide RNVP1.";
RL Genomics 29:273-275(1995).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA].
RA Bellingham J.;
RT "Peptide conservation between avian and mammalian visinin-like proteins.";
RL Submitted (DEC-1997) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [MRNA].
RC TISSUE=Brain;
RX PubMed=10520747; DOI=10.3109/10425179809072192;
RA Kobayashi M., Sakai E., Furuta Y., Takamatsu K.;
RT "Isolation of two human cDNAs, HLP3 and HLP4, homologous to the neuron-
RT specific calcium-binding protein genes.";
RL DNA Seq. 9:171-176(1998).
RN [4]
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 (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Testis;
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 [6]
RP TISSUE SPECIFICITY.
RX PubMed=18703769; DOI=10.1373/clinchem.2008.104497;
RA Lee J.M., Blennow K., Andreasen N., Laterza O., Modur V., Olander J.,
RA Gao F., Ohlendorf M., Ladenson J.H.;
RT "The brain injury biomarker VLP-1 is increased in the cerebrospinal fluid
RT of Alzheimer disease patients.";
RL Clin. Chem. 54:1617-1623(2008).
RN [7]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=21269460; DOI=10.1186/1752-0509-5-17;
RA Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T.,
RA Bennett K.L., Superti-Furga G., Colinge J.;
RT "Initial characterization of the human central proteome.";
RL BMC Syst. Biol. 5:17-17(2011).
CC -!- FUNCTION: Regulates (in vitro) the inhibition of rhodopsin
CC phosphorylation in a calcium-dependent manner. {ECO:0000250}.
CC -!- INTERACTION:
CC P62760; P54253: ATXN1; NbExp=7; IntAct=EBI-740943, EBI-930964;
CC P62760; Q9BXJ5: C1QTNF2; NbExp=3; IntAct=EBI-740943, EBI-2817707;
CC P62760; Q03692: COL10A1; NbExp=3; IntAct=EBI-740943, EBI-2528309;
CC P62760; Q86UW9: DTX2; NbExp=10; IntAct=EBI-740943, EBI-740376;
CC P62760; O94919: ENDOD1; NbExp=3; IntAct=EBI-740943, EBI-6163734;
CC P62760; Q96AQ9: FAM131C; NbExp=7; IntAct=EBI-740943, EBI-741921;
CC P62760; Q99732: LITAF; NbExp=3; IntAct=EBI-740943, EBI-725647;
CC P62760; Q7Z699: SPRED1; NbExp=5; IntAct=EBI-740943, EBI-5235340;
CC P62760; Q7Z698: SPRED2; NbExp=3; IntAct=EBI-740943, EBI-7082156;
CC P62760; O43610: SPRY3; NbExp=3; IntAct=EBI-740943, EBI-12290641;
CC P62760; Q86TD4-2: SRL; NbExp=3; IntAct=EBI-740943, EBI-12304565;
CC P62760; Q9BXU2: TEX13B; NbExp=8; IntAct=EBI-740943, EBI-12007066;
CC P62760; P04155: TFF1; NbExp=3; IntAct=EBI-740943, EBI-743871;
CC P62760; A0A1U9X8X8; NbExp=3; IntAct=EBI-740943, EBI-17234977;
CC -!- TISSUE SPECIFICITY: Brain and retina. Neuron-specific in the central
CC and peripheral nervous system. Increased in the cerebrospinal fluid of
CC Alzheimer disease patients (at protein level).
CC {ECO:0000269|PubMed:18703769}.
CC -!- MISCELLANEOUS: Probably binds three calcium ions.
CC -!- SIMILARITY: Belongs to the recoverin family. {ECO:0000305}.
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DR EMBL; U14747; AAA91295.1; -; mRNA.
DR EMBL; AF039555; AAD02174.1; -; mRNA.
DR EMBL; AB001104; BAA86891.1; -; mRNA.
DR EMBL; CH471053; EAX00870.1; -; Genomic_DNA.
DR EMBL; CH471053; EAX00871.1; -; Genomic_DNA.
DR EMBL; CH471053; EAX00872.1; -; Genomic_DNA.
DR EMBL; CH471053; EAX00875.1; -; Genomic_DNA.
DR EMBL; BC022012; AAH22012.1; -; mRNA.
DR CCDS; CCDS1689.1; -.
DR RefSeq; NP_003376.2; NM_003385.4.
DR AlphaFoldDB; P62760; -.
DR SMR; P62760; -.
DR BioGRID; 113286; 43.
DR CORUM; P62760; -.
DR IntAct; P62760; 21.
DR STRING; 9606.ENSP00000384719; -.
DR iPTMnet; P62760; -.
DR PhosphoSitePlus; P62760; -.
DR BioMuta; VSNL1; -.
DR DMDM; 51338696; -.
DR EPD; P62760; -.
DR jPOST; P62760; -.
DR MassIVE; P62760; -.
DR MaxQB; P62760; -.
DR PaxDb; P62760; -.
DR PeptideAtlas; P62760; -.
DR PRIDE; P62760; -.
DR ProteomicsDB; 57423; -.
DR Antibodypedia; 27025; 1393 antibodies from 35 providers.
DR DNASU; 7447; -.
DR Ensembl; ENST00000295156.9; ENSP00000295156.4; ENSG00000163032.12.
DR Ensembl; ENST00000404666.6; ENSP00000384014.1; ENSG00000163032.12.
DR Ensembl; ENST00000406397.1; ENSP00000384719.1; ENSG00000163032.12.
DR GeneID; 7447; -.
DR KEGG; hsa:7447; -.
DR MANE-Select; ENST00000295156.9; ENSP00000295156.4; NM_003385.5; NP_003376.2.
DR UCSC; uc002rcm.4; human.
DR CTD; 7447; -.
DR DisGeNET; 7447; -.
DR GeneCards; VSNL1; -.
DR HGNC; HGNC:12722; VSNL1.
DR HPA; ENSG00000163032; Tissue enriched (brain).
DR MIM; 600817; gene.
DR neXtProt; NX_P62760; -.
DR OpenTargets; ENSG00000163032; -.
DR PharmGKB; PA37333; -.
DR VEuPathDB; HostDB:ENSG00000163032; -.
DR eggNOG; KOG0044; Eukaryota.
DR GeneTree; ENSGT00940000156513; -.
DR HOGENOM; CLU_072366_1_0_1; -.
DR InParanoid; P62760; -.
DR OMA; ALFTCSC; -.
DR OrthoDB; 1369072at2759; -.
DR PhylomeDB; P62760; -.
DR TreeFam; TF300009; -.
DR PathwayCommons; P62760; -.
DR SignaLink; P62760; -.
DR BioGRID-ORCS; 7447; 12 hits in 1071 CRISPR screens.
DR ChiTaRS; VSNL1; human.
DR GeneWiki; VSNL1; -.
DR GenomeRNAi; 7447; -.
DR Pharos; P62760; Tbio.
DR PRO; PR:P62760; -.
DR Proteomes; UP000005640; Chromosome 2.
DR RNAct; P62760; protein.
DR Bgee; ENSG00000163032; Expressed in middle temporal gyrus and 160 other tissues.
DR ExpressionAtlas; P62760; baseline and differential.
DR Genevisible; P62760; HS.
DR GO; GO:0005829; C:cytosol; IEA:Ensembl.
DR GO; GO:0016020; C:membrane; IEA:Ensembl.
DR GO; GO:0005509; F:calcium ion binding; IEA:InterPro.
DR GO; GO:0046676; P:negative regulation of insulin secretion; IEA:Ensembl.
DR GO; GO:0045921; P:positive regulation of exocytosis; IEA:Ensembl.
DR GO; GO:0035774; P:positive regulation of insulin secretion involved in cellular response to glucose stimulus; IEA:Ensembl.
DR CDD; cd00051; EFh; 2.
DR InterPro; IPR011992; EF-hand-dom_pair.
DR InterPro; IPR018247; EF_Hand_1_Ca_BS.
DR InterPro; IPR002048; EF_hand_dom.
DR InterPro; IPR028846; Recoverin.
DR InterPro; IPR029533; VILIP-1.
DR PANTHER; PTHR23055; PTHR23055; 1.
DR PANTHER; PTHR23055:SF101; PTHR23055:SF101; 1.
DR Pfam; PF00036; EF-hand_1; 1.
DR Pfam; PF13499; EF-hand_7; 1.
DR SMART; SM00054; EFh; 3.
DR SUPFAM; SSF47473; SSF47473; 1.
DR PROSITE; PS00018; EF_HAND_1; 3.
DR PROSITE; PS50222; EF_HAND_2; 4.
PE 1: Evidence at protein level;
KW Calcium; Lipoprotein; Metal-binding; Myristate; Reference proteome; Repeat.
FT INIT_MET 1
FT /note="Removed"
FT CHAIN 2..191
FT /note="Visinin-like protein 1"
FT /id="PRO_0000073763"
FT DOMAIN 40..58
FT /note="EF-hand 1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00448"
FT DOMAIN 60..95
FT /note="EF-hand 2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00448"
FT DOMAIN 96..131
FT /note="EF-hand 3"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00448"
FT DOMAIN 146..181
FT /note="EF-hand 4"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00448"
FT BINDING 73
FT /ligand="Ca(2+)"
FT /ligand_id="ChEBI:CHEBI:29108"
FT /ligand_label="1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00448"
FT BINDING 75
FT /ligand="Ca(2+)"
FT /ligand_id="ChEBI:CHEBI:29108"
FT /ligand_label="1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00448"
FT BINDING 77
FT /ligand="Ca(2+)"
FT /ligand_id="ChEBI:CHEBI:29108"
FT /ligand_label="1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00448"
FT BINDING 79
FT /ligand="Ca(2+)"
FT /ligand_id="ChEBI:CHEBI:29108"
FT /ligand_label="1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00448"
FT BINDING 84
FT /ligand="Ca(2+)"
FT /ligand_id="ChEBI:CHEBI:29108"
FT /ligand_label="1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00448"
FT BINDING 109
FT /ligand="Ca(2+)"
FT /ligand_id="ChEBI:CHEBI:29108"
FT /ligand_label="2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00448"
FT BINDING 111
FT /ligand="Ca(2+)"
FT /ligand_id="ChEBI:CHEBI:29108"
FT /ligand_label="2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00448"
FT BINDING 113
FT /ligand="Ca(2+)"
FT /ligand_id="ChEBI:CHEBI:29108"
FT /ligand_label="2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00448"
FT BINDING 115
FT /ligand="Ca(2+)"
FT /ligand_id="ChEBI:CHEBI:29108"
FT /ligand_label="2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00448"
FT BINDING 120
FT /ligand="Ca(2+)"
FT /ligand_id="ChEBI:CHEBI:29108"
FT /ligand_label="2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00448"
FT BINDING 159
FT /ligand="Ca(2+)"
FT /ligand_id="ChEBI:CHEBI:29108"
FT /ligand_label="3"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00448"
FT BINDING 161
FT /ligand="Ca(2+)"
FT /ligand_id="ChEBI:CHEBI:29108"
FT /ligand_label="3"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00448"
FT BINDING 163
FT /ligand="Ca(2+)"
FT /ligand_id="ChEBI:CHEBI:29108"
FT /ligand_label="3"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00448"
FT BINDING 165
FT /ligand="Ca(2+)"
FT /ligand_id="ChEBI:CHEBI:29108"
FT /ligand_label="3"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00448"
FT BINDING 170
FT /ligand="Ca(2+)"
FT /ligand_id="ChEBI:CHEBI:29108"
FT /ligand_label="3"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00448"
FT LIPID 2
FT /note="N-myristoyl glycine"
FT /evidence="ECO:0000250"
FT VARIANT 65
FT /note="A -> G (in dbSNP:rs1042674)"
FT /evidence="ECO:0000269|PubMed:8530085"
FT /id="VAR_047313"
FT VARIANT 172
FT /note="K -> R (in dbSNP:rs1042685)"
FT /evidence="ECO:0000269|PubMed:8530085"
FT /id="VAR_047314"
FT CONFLICT 75
FT /note="N -> I (in Ref. 1; AAA91295)"
FT /evidence="ECO:0000305"
FT CONFLICT 140
FT /note="M -> K (in Ref. 3; BAA86891)"
FT /evidence="ECO:0000305"
FT CONFLICT 158
FT /note="M -> K (in Ref. 3; BAA86891)"
FT /evidence="ECO:0000305"
FT CONFLICT 169
FT /note="D -> G (in Ref. 1; AAA91295)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 191 AA; 22142 MW; ACDC3B4FE8C79265 CRC64;
MGKQNSKLAP EVMEDLVKST EFNEHELKQW YKGFLKDCPS GRLNLEEFQQ LYVKFFPYGD
ASKFAQHAFR TFDKNGDGTI DFREFICALS ITSRGSFEQK LNWAFNMYDL DGDGKITRVE
MLEIIEAIYK MVGTVIMMKM NEDGLTPEQR VDKIFSKMDK NKDDQITLDE FKEAAKSDPS
IVLLLQCDIQ K
