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hyaluronan and proteoglycan link protein 4 precursor [Homo sapiens]

NCBI Reference Sequence: NP_075378.1

Identical Proteins FASTA Graphics 

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
//
Feature
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Reference sequence information

  • RefSeq mRNA
    See reference mRNA sequence for the HAPLN4 gene (NM_023002.3).

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