LOCUS NP_075378 402 aa linear PRI 04-APR-2024
DEFINITION hyaluronan and proteoglycan link protein 4 precursor [Homo
sapiens].
ACCESSION NP_075378
VERSION NP_075378.1
DBSOURCE REFSEQ: accession NM_023002.3
KEYWORDS RefSeq; MANE Select.
SOURCE Homo sapiens (human)
ORGANISM Homo sapiens
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
REFERENCE 1 (residues 1 to 402)
CONSRTM Schizophrenia Working Group of the Psychiatric Genomics Consortium
TITLE Biological insights from 108 schizophrenia-associated genetic loci
JOURNAL Nature 511 (7510), 421-427 (2014)
PUBMED 25056061
REFERENCE 2 (residues 1 to 402)
AUTHORS Ripke,S., O'Dushlaine,C., Chambert,K., Moran,J.L., Kahler,A.K.,
Akterin,S., Bergen,S.E., Collins,A.L., Crowley,J.J., Fromer,M.,
Kim,Y., Lee,S.H., Magnusson,P.K., Sanchez,N., Stahl,E.A.,
Williams,S., Wray,N.R., Xia,K., Bettella,F., Borglum,A.D.,
Bulik-Sullivan,B.K., Cormican,P., Craddock,N., de Leeuw,C.,
Durmishi,N., Gill,M., Golimbet,V., Hamshere,M.L., Holmans,P.,
Hougaard,D.M., Kendler,K.S., Lin,K., Morris,D.W., Mors,O.,
Mortensen,P.B., Neale,B.M., O'Neill,F.A., Owen,M.J.,
Milovancevic,M.P., Posthuma,D., Powell,J., Richards,A.L.,
Riley,B.P., Ruderfer,D., Rujescu,D., Sigurdsson,E., Silagadze,T.,
Smit,A.B., Stefansson,H., Steinberg,S., Suvisaari,J., Tosato,S.,
Verhage,M., Walters,J.T., Levinson,D.F., Gejman,P.V., Kendler,K.S.,
Laurent,C., Mowry,B.J., O'Donovan,M.C., Owen,M.J., Pulver,A.E.,
Riley,B.P., Schwab,S.G., Wildenauer,D.B., Dudbridge,F., Holmans,P.,
Shi,J., Albus,M., Alexander,M., Campion,D., Cohen,D., Dikeos,D.,
Duan,J., Eichhammer,P., Godard,S., Hansen,M., Lerer,F.B.,
Liang,K.Y., Maier,W., Mallet,J., Nertney,D.A., Nestadt,G.,
Norton,N., O'Neill,F.A., Papadimitriou,G.N., Ribble,R.,
Sanders,A.R., Silverman,J.M., Walsh,D., Williams,N.M., Wormley,B.,
Arranz,M.J., Bakker,S., Bender,S., Bramon,E., Collier,D.,
Crespo-Facorro,B., Hall,J., Iyegbe,C., Jablensky,A., Kahn,R.S.,
Kalaydjieva,L., Lawrie,S., Lewis,C.M., Lin,K., Linszen,D.H.,
Mata,I., McIntosh,A., Murray,R.M., Ophoff,R.A., Powell,J.,
Rujescu,D., Van Os,J., Walshe,M., Weisbrod,M., Wiersma,D.,
Donnelly,P., Barroso,I., Blackwell,J.M., Bramon,E., Brown,M.A.,
Casas,J.P., Corvin,A.P., Deloukas,P., Duncanson,A., Jankowski,J.,
Markus,H.S., Mathew,C.G., Palmer,C.N., Plomin,R., Rautanen,A.,
Sawcer,S.J., Trembath,R.C., Viswanathan,A.C., Wood,N.W.,
Spencer,C.C., Band,G., Bellenguez,C., Freeman,C., Hellenthal,G.,
Giannoulatou,E., Pirinen,M., Pearson,R.D., Strange,A., Su,Z.,
Vukcevic,D., Donnelly,P., Langford,C., Hunt,S.E., Edkins,S.,
Gwilliam,R., Blackburn,H., Bumpstead,S.J., Dronov,S., Gillman,M.,
Gray,E., Hammond,N., Jayakumar,A., McCann,O.T., Liddle,J.,
Potter,S.C., Ravindrarajah,R., Ricketts,M.,
Tashakkori-Ghanbaria,A., Waller,M.J., Weston,P., Widaa,S.,
Whittaker,P., Barroso,I., Deloukas,P., Mathew,C.G., Blackwell,J.M.,
Brown,M.A., Corvin,A.P., McCarthy,M.I., Spencer,C.C., Bramon,E.,
Corvin,A.P., O'Donovan,M.C., Stefansson,K., Scolnick,E.,
Purcell,S., McCarroll,S.A., Sklar,P., Hultman,C.M. and
Sullivan,P.F.
CONSRTM Multicenter Genetic Studies of Schizophrenia Consortium; Psychosis
Endophenotypes International Consortium; Wellcome Trust Case
Control Consortium 2
TITLE Genome-wide association analysis identifies 13 new risk loci for
schizophrenia
JOURNAL Nat Genet 45 (10), 1150-1159 (2013)
PUBMED 23974872
REFERENCE 3 (residues 1 to 402)
AUTHORS Kahler,A.K., Djurovic,S., Rimol,L.M., Brown,A.A., Athanasiu,L.,
Jonsson,E.G., Hansen,T., Gustafsson,O., Hall,H., Giegling,I.,
Muglia,P., Cichon,S., Rietschel,M., Pietilainen,O.P., Peltonen,L.,
Bramon,E., Collier,D., St Clair,D., Sigurdsson,E., Petursson,H.,
Rujescu,D., Melle,I., Werge,T., Steen,V.M., Dale,A.M.,
Matthews,R.T., Agartz,I. and Andreassen,O.A.
TITLE Candidate gene analysis of the human natural killer-1 carbohydrate
pathway and perineuronal nets in schizophrenia: B3GAT2 is
associated with disease risk and cortical surface area
JOURNAL Biol Psychiatry 69 (1), 90-96 (2011)
PUBMED 20950796
REMARK GeneRIF: Observational study and meta-analysis of gene-disease
association. (HuGE Navigator)
REFERENCE 4 (residues 1 to 402)
AUTHORS Sim,H., Hu,B. and Viapiano,M.S.
TITLE Reduced expression of the hyaluronan and proteoglycan link proteins
in malignant gliomas
JOURNAL J Biol Chem 284 (39), 26547-26556 (2009)
PUBMED 19633295
REMARK GeneRIF: Results indicate that HAPLN4 and HAPLN2 are the
predominant members of this family in the adult human brain but are
strongly reduced in the tumor parenchyma.
REFERENCE 5 (residues 1 to 402)
AUTHORS Bekku,Y., Su,W.D., Hirakawa,S., Fassler,R., Ohtsuka,A., Kang,J.S.,
Sanders,J., Murakami,T., Ninomiya,Y. and Oohashi,T.
TITLE Molecular cloning of Bral2, a novel brain-specific link protein,
and immunohistochemical colocalization with brevican in
perineuronal nets
JOURNAL Mol Cell Neurosci 24 (1), 148-159 (2003)
PUBMED 14550776
REFERENCE 6 (residues 1 to 402)
AUTHORS Spicer,A.P., Joo,A. and Bowling,R.A. Jr.
TITLE A hyaluronan binding link protein gene family whose members are
physically linked adjacent to chondroitin sulfate proteoglycan core
protein genes: the missing links
JOURNAL J Biol Chem 278 (23), 21083-21091 (2003)
PUBMED 12663660
COMMENT VALIDATED REFSEQ: This record has undergone validation or
preliminary review. The reference sequence was derived from
AC138430.2, BC142698.1 and BC142644.1.
##Evidence-Data-START##
Transcript exon combination :: BC142698.1, AY262756.1 [ECO:0000332]
RNAseq introns :: single sample supports all introns
SAMEA2153733, SAMEA2153932
[ECO:0000348]
##Evidence-Data-END##
##RefSeq-Attributes-START##
MANE Ensembl match :: ENST00000291481.8/ ENSP00000291481.5
RefSeq Select criteria :: based on single protein-coding transcript
##RefSeq-Attributes-END##
FEATURES Location/Qualifiers
source 1..402
/organism="Homo sapiens"
/db_xref="taxon:9606"
/chromosome="19"
/map="19p13.11"
Protein 1..402
/product="hyaluronan and proteoglycan link protein 4
precursor"
/note="brain link protein 2"
/calculated_mol_wt=40040
sig_peptide 1..29
/inference="COORDINATES: ab initio prediction:SignalP:6.0"
/calculated_mol_wt=2779
mat_peptide 30..402
/product="Hyaluronan and proteoglycan link protein 4.
/evidence=ECO:0000255. /id=PRO_0000013192"
/note="propagated from UniProtKB/Swiss-Prot (Q86UW8.1)"
/calculated_mol_wt=40040
Region 50..165
/region_name="Ig"
/note="Immunoglobulin domain; cl11960"
/db_xref="CDD:472250"
Region 64..68
/region_name="Ig strand B"
/note="Ig strand B [structural motif]"
/db_xref="CDD:409461"
Region 83..87
/region_name="Ig strand C"
/note="Ig strand C [structural motif]"
/db_xref="CDD:409461"
Region 126..130
/region_name="Ig strand E"
/note="Ig strand E [structural motif]"
/db_xref="CDD:409461"
Site 132
/site_type="glycosylation"
/note="N-linked (GlcNAc...) asparagine.
/evidence=ECO:0000305; propagated from
UniProtKB/Swiss-Prot (Q86UW8.1)"
Region 140..145
/region_name="Ig strand F"
/note="Ig strand F [structural motif]"
/db_xref="CDD:409461"
Region 158..161
/region_name="Ig strand G"
/note="Ig strand G [structural motif]"
/db_xref="CDD:409461"
Region 163..267
/region_name="Link_Domain"
/note="The link domain is a hyaluronan (HA)-binding
domain. It functions to mediate adhesive interactions
during inflammatory leukocyte homing and tumor metastasis.
It is found in the CD44 receptor and in human TSG-6. TSG-6
is the protein product of the tumor...; cl02612"
/db_xref="CDD:470631"
Site 173..174
/site_type="other"
/note="putative hyaluronan binding site [chemical
binding]"
/db_xref="CDD:238534"
Region 274..364
/region_name="Link_Domain"
/note="The link domain is a hyaluronan (HA)-binding
domain. It functions to mediate adhesive interactions
during inflammatory leukocyte homing and tumor metastasis.
It is found in the CD44 receptor and in human TSG-6. TSG-6
is the protein product of the tumor...; cl02612"
/db_xref="CDD:470631"
Site 281..282
/site_type="other"
/note="putative hyaluronan binding site [chemical
binding]"
/db_xref="CDD:238534"
CDS 1..402
/gene="HAPLN4"
/gene_synonym="BRAL2"
/coded_by="NM_023002.3:73..1281"
/db_xref="CCDS:CCDS12398.1"
/db_xref="GeneID:404037"
/db_xref="HGNC:HGNC:31357"
/db_xref="MIM:619710"
ORIGIN
1 mvcaraalgp galwaaawgv llltapagaq rgrkkvvhvl egesgsvvvq tapgqvvshr
61 ggtivlpcry hyeaaahghd gvrlkwtkvv dplaftdvfv algpqhrafg syrgraelqg
121 dgpgdaslvl rnvtlqdygr yecevtnele ddagmvkldl egvvfpyhpr ggrykltfae
181 aqracaeqdg ilasaeqlha awrdgldwcn agwlrdgsvq ypvnrprepc gglggtgsag
241 gggdangglr nygyrhnaee rydafcftsn lpgrvfflkp lrpvpfsgaa racaargaav
301 akvgqlfaaw klqlldrcta gwladgsary pivnprarcg grrpgvrslg fpdatrrlfg
361 vycyrapgap dpapggwgwg waggggwagg ardpaawtpl hv
//