HIPL1_HUMAN
ID HIPL1_HUMAN Reviewed; 782 AA.
AC Q96JK4; A2RUF8; B2RN09; Q6UXX2;
DT 15-JAN-2008, integrated into UniProtKB/Swiss-Prot.
DT 15-JAN-2008, sequence version 2.
DT 03-AUG-2022, entry version 140.
DE RecName: Full=HHIP-like protein 1;
DE Flags: Precursor;
GN Name=HHIPL1; Synonyms=HHIP2, KIAA1822; ORFNames=UNQ9245/PRO34761;
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).
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=12508121; DOI=10.1038/nature01348;
RA Heilig R., Eckenberg R., Petit J.-L., Fonknechten N., Da Silva C.,
RA Cattolico L., Levy M., Barbe V., De Berardinis V., Ureta-Vidal A.,
RA Pelletier E., Vico V., Anthouard V., Rowen L., Madan A., Qin S., Sun H.,
RA Du H., Pepin K., Artiguenave F., Robert C., Cruaud C., Bruels T.,
RA Jaillon O., Friedlander L., Samson G., Brottier P., Cure S., Segurens B.,
RA Aniere F., Samain S., Crespeau H., Abbasi N., Aiach N., Boscus D.,
RA Dickhoff R., Dors M., Dubois I., Friedman C., Gouyvenoux M., James R.,
RA Madan A., Mairey-Estrada B., Mangenot S., Martins N., Menard M., Oztas S.,
RA Ratcliffe A., Shaffer T., Trask B., Vacherie B., Bellemere C., Belser C.,
RA Besnard-Gonnet M., Bartol-Mavel D., Boutard M., Briez-Silla S.,
RA Combette S., Dufosse-Laurent V., Ferron C., Lechaplais C., Louesse C.,
RA Muselet D., Magdelenat G., Pateau E., Petit E., Sirvain-Trukniewicz P.,
RA Trybou A., Vega-Czarny N., Bataille E., Bluet E., Bordelais I., Dubois M.,
RA Dumont C., Guerin T., Haffray S., Hammadi R., Muanga J., Pellouin V.,
RA Robert D., Wunderle E., Gauguet G., Roy A., Sainte-Marthe L., Verdier J.,
RA Verdier-Discala C., Hillier L.W., Fulton L., McPherson J., Matsuda F.,
RA Wilson R., Scarpelli C., Gyapay G., Wincker P., Saurin W., Quetier F.,
RA Waterston R., Hood L., Weissenbach J.;
RT "The DNA sequence and analysis of human chromosome 14.";
RL Nature 421:601-607(2003).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
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 NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 250-782 (ISOFORM 1).
RC TISSUE=Brain;
RX PubMed=11347906; DOI=10.1093/dnares/8.2.85;
RA Nagase T., Nakayama M., Nakajima D., Kikuno R., Ohara O.;
RT "Prediction of the coding sequences of unidentified human genes. XX. The
RT complete sequences of 100 new cDNA clones from brain which code for large
RT proteins in vitro.";
RL DNA Res. 8:85-95(2001).
RN [5]
RP IDENTIFICATION, AND NOMENCLATURE.
RX PubMed=16391842;
RA Katoh Y., Katoh M.;
RT "Comparative genomics on HHIP family orthologs.";
RL Int. J. Mol. Med. 17:391-395(2006).
CC -!- INTERACTION:
CC Q96JK4-2; Q8N9N5-2: BANP; NbExp=3; IntAct=EBI-12083878, EBI-11524452;
CC Q96JK4-2; O95967: EFEMP2; NbExp=3; IntAct=EBI-12083878, EBI-743414;
CC Q96JK4-2; Q8IUG1: KRTAP1-3; NbExp=3; IntAct=EBI-12083878, EBI-11749135;
CC Q96JK4-2; Q16656-4: NRF1; NbExp=3; IntAct=EBI-12083878, EBI-11742836;
CC -!- SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q96JK4-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q96JK4-2; Sequence=VSP_030455, VSP_030456;
CC -!- SIMILARITY: Belongs to the HHIP family. {ECO:0000305}.
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DR EMBL; AY358173; AAQ88540.1; -; mRNA.
DR EMBL; AL160313; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC132877; AAI32878.1; -; mRNA.
DR EMBL; BC136577; AAI36578.1; -; mRNA.
DR EMBL; AB058725; BAB47451.1; -; mRNA.
DR CCDS; CCDS45162.1; -. [Q96JK4-1]
DR CCDS; CCDS9953.1; -. [Q96JK4-2]
DR RefSeq; NP_001120730.1; NM_001127258.2. [Q96JK4-1]
DR RefSeq; NP_115801.3; NM_032425.5. [Q96JK4-2]
DR AlphaFoldDB; Q96JK4; -.
DR SMR; Q96JK4; -.
DR BioGRID; 124078; 33.
DR IntAct; Q96JK4; 4.
DR STRING; 9606.ENSP00000330601; -.
DR GlyGen; Q96JK4; 1 site.
DR iPTMnet; Q96JK4; -.
DR PhosphoSitePlus; Q96JK4; -.
DR BioMuta; HHIPL1; -.
DR DMDM; 166218135; -.
DR MassIVE; Q96JK4; -.
DR PaxDb; Q96JK4; -.
DR PeptideAtlas; Q96JK4; -.
DR PRIDE; Q96JK4; -.
DR ProteomicsDB; 76977; -. [Q96JK4-1]
DR ProteomicsDB; 76978; -. [Q96JK4-2]
DR Antibodypedia; 57719; 59 antibodies from 16 providers.
DR DNASU; 84439; -.
DR Ensembl; ENST00000330710.10; ENSP00000330601.5; ENSG00000182218.10. [Q96JK4-1]
DR Ensembl; ENST00000357223.2; ENSP00000349757.2; ENSG00000182218.10. [Q96JK4-2]
DR GeneID; 84439; -.
DR KEGG; hsa:84439; -.
DR MANE-Select; ENST00000330710.10; ENSP00000330601.5; NM_001127258.3; NP_001120730.1.
DR UCSC; uc001ygl.2; human. [Q96JK4-1]
DR CTD; 84439; -.
DR DisGeNET; 84439; -.
DR GeneCards; HHIPL1; -.
DR HGNC; HGNC:19710; HHIPL1.
DR HPA; ENSG00000182218; Tissue enhanced (brain).
DR neXtProt; NX_Q96JK4; -.
DR OpenTargets; ENSG00000182218; -.
DR PharmGKB; PA162390893; -.
DR VEuPathDB; HostDB:ENSG00000182218; -.
DR eggNOG; ENOG502QQKP; Eukaryota.
DR GeneTree; ENSGT00940000162083; -.
DR HOGENOM; CLU_012344_2_3_1; -.
DR InParanoid; Q96JK4; -.
DR OMA; HEWIRIS; -.
DR PhylomeDB; Q96JK4; -.
DR TreeFam; TF329059; -.
DR PathwayCommons; Q96JK4; -.
DR SignaLink; Q96JK4; -.
DR BioGRID-ORCS; 84439; 11 hits in 1063 CRISPR screens.
DR ChiTaRS; HHIPL1; human.
DR GenomeRNAi; 84439; -.
DR Pharos; Q96JK4; Tdark.
DR PRO; PR:Q96JK4; -.
DR Proteomes; UP000005640; Chromosome 14.
DR RNAct; Q96JK4; protein.
DR Bgee; ENSG00000182218; Expressed in caudate nucleus and 87 other tissues.
DR ExpressionAtlas; Q96JK4; baseline and differential.
DR Genevisible; Q96JK4; HS.
DR GO; GO:0005576; C:extracellular region; IEA:UniProtKB-SubCell.
DR GO; GO:0016020; C:membrane; IEA:InterPro.
DR GO; GO:0005044; F:scavenger receptor activity; IEA:InterPro.
DR Gene3D; 2.120.10.30; -; 1.
DR Gene3D; 3.10.250.10; -; 1.
DR InterPro; IPR011042; 6-blade_b-propeller_TolB-like.
DR InterPro; IPR018143; Folate_rcpt-like.
DR InterPro; IPR012938; Glc/Sorbosone_DH.
DR InterPro; IPR011041; Quinoprot_gluc/sorb_DH.
DR InterPro; IPR001190; SRCR.
DR InterPro; IPR017448; SRCR-like_dom.
DR InterPro; IPR036772; SRCR-like_dom_sf.
DR Pfam; PF03024; Folate_rec; 1.
DR Pfam; PF07995; GSDH; 1.
DR Pfam; PF00530; SRCR; 1.
DR PRINTS; PR00258; SPERACTRCPTR.
DR SMART; SM00202; SR; 1.
DR SUPFAM; SSF50952; SSF50952; 1.
DR SUPFAM; SSF56487; SSF56487; 1.
DR PROSITE; PS00420; SRCR_1; 1.
DR PROSITE; PS50287; SRCR_2; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Disulfide bond; Glycoprotein; Reference proteome;
KW Secreted; Signal.
FT SIGNAL 1..19
FT /evidence="ECO:0000255"
FT CHAIN 20..782
FT /note="HHIP-like protein 1"
FT /id="PRO_0000314962"
FT DOMAIN 673..776
FT /note="SRCR"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00196"
FT REGION 604..666
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 628..644
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT CARBOHYD 234
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT DISULFID 181..521
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00196"
FT DISULFID 185..528
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00196"
FT DISULFID 399..417
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00196"
FT DISULFID 484..584
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00196"
FT DISULFID 700..765
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00196"
FT DISULFID 713..775
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00196"
FT DISULFID 745..755
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00196"
FT VAR_SEQ 577..608
FT /note="RRAPPGKCQIQPAQVKIRSRLIPFVPKEKFIP -> SCKARSAMPGYVPAPS
FT VCSSLTSQPFILQWWK (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:12975309,
FT ECO:0000303|PubMed:15489334"
FT /id="VSP_030455"
FT VAR_SEQ 609..782
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:12975309,
FT ECO:0000303|PubMed:15489334"
FT /id="VSP_030456"
FT VARIANT 692
FT /note="V -> A (in dbSNP:rs7158073)"
FT /id="VAR_060163"
FT CONFLICT 151
FT /note="L -> M (in Ref. 1; AAQ88540)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 782 AA; 86731 MW; 5A6170845C6F9472 CRC64;
MARARAGALL ALWVLGAAAH PQCLDFRPPF RPTQPLRLCA QYSDFGCCDE GRDAELTRRF
WALASRVDAA EWAACAGYAR DLLCQECSPY AAHLYDAEDP FTPLRTVPGL CQDYCLDMWH
KCRGLFRHLS TDQELWALEG NLARFCRYLS LDDTDYCFPY LLVNKNLNSN LGHVVADAKG
CLQLCLEEVA NGLRNPVAMV HARDGTHRFF VAEQVGLVWA YLPDRSRLGK PFLNISRVVL
TSPWEGDERG FLGIAFHPSF QHNRRLYVYY SVGIRSSEWI RISEFRVSED DENAVDHSSE
RIILEVKEPA SNHNGGQLLF GDDGYLYIFT GDGGMAGDPF GTFGNAQNKS ALLGKVLRID
VDRKERGLPY GIPPDNPFVG DPAAQPEVYA LGVRNMWRCS FDRGDPSSGT GRGRLFCGDV
GQNKFEEVDV VERGGNYGWR AREGFECYDR SLCANTSLND LLPIFAYPHT VGKSVTGGYV
YRGCEYPNLN GLYIFGDFMS GRLMSLQENP GTGQWQYSEI CMGHGQTCEF PGLINNYYPY
IISFGEDEAG ELYFMSTGEP SATAPRGVVY KIIDASRRAP PGKCQIQPAQ VKIRSRLIPF
VPKEKFIPKT RSTPRPTARA PTRAPRRGRP TAAPPAPTPR PARPTQQPGS RRGGGRRRGR
LNSASRAFRD GEVRLVRPAG LSSGSGRVEV FVGGRWGTVC DDSWNISGAA VVCRQLGFAY
AVRAVKRAEF GQGGSLPILL DDVRCAGWER NLLECQHNGV GTHNCEHDED AGVVCSHQNP
DL
