LOCUS       NM_001884               4849 bp    mRNA    linear   PRI 12-NOV-2024
DEFINITION  Homo sapiens hyaluronan and proteoglycan link protein 1 (HAPLN1),
            mRNA.
ACCESSION   NM_001884
VERSION     NM_001884.4
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  (bases 1 to 4849)
  AUTHORS   Lian,Z., Luo,W., Liu,J., Wang,J., Chai,W., Wang,Y., Sethi,S. and
            Ma,X.
  TITLE     Analysis of ANO6, HAPLN1, and EDIL3 Polymorphisms in Patients with
            Ankylosing Spondylitis in a Chinese Han Population: A Case-Control
            Study
  JOURNAL   Genet Test Mol Biomarkers 28 (10), 385-392 (2024)
   PUBMED   39358671
  REMARK    GeneRIF: Analysis of ANO6, HAPLN1, and EDIL3 Polymorphisms in
            Patients with Ankylosing Spondylitis in a Chinese Han Population: A
            Case-Control Study.
REFERENCE   2  (bases 1 to 4849)
  AUTHORS   Clarke,A., Farr,C.V., El-Kasaby,A., Szollosi,D., Freissmuth,M.,
            Sucic,S. and Stockner,T.
  TITLE     Probing binding and occlusion of substrate in the human creatine
            transporter-1 by computation and mutagenesis
  JOURNAL   Protein Sci 33 (1), e4842 (2024)
   PUBMED   38032325
  REMARK    GeneRIF: Probing binding and occlusion of substrate in the human
            creatine transporter-1 by computation and mutagenesis.
REFERENCE   3  (bases 1 to 4849)
  AUTHORS   Chang,H.Y., Huynh,M., Roopra,A., Callander,N.S. and Miyamoto,S.
  TITLE     HAPLN1 matrikine: a bone marrow homing factor linked to poor
            outcomes in patients with MM
  JOURNAL   Blood Adv 7 (22), 6859-6872 (2023)
   PUBMED   37647592
  REMARK    GeneRIF: HAPLN1 matrikine: a bone marrow homing factor linked to
            poor outcomes in patients with MM.
REFERENCE   4  (bases 1 to 4849)
  AUTHORS   Liu,H., Li,T., Ma,B., Wang,Y. and Sun,J.
  TITLE     Hyaluronan and Proteoglycan Link Protein 1 Activates the
            BMP4/Smad1/5/8 Signaling Pathway to Promote Osteogenic
            Differentiation: an Implication in Fracture Healing
  JOURNAL   Mol Biotechnol 65 (10), 1653-1663 (2023)
   PUBMED   36737556
  REMARK    GeneRIF: Hyaluronan and Proteoglycan Link Protein 1 Activates the
            BMP4/Smad1/5/8 Signaling Pathway to Promote Osteogenic
            Differentiation: an Implication in Fracture Healing.
REFERENCE   5  (bases 1 to 4849)
  AUTHORS   Chen,Y., Wang,B., Chen,Y., Wu,Q., Lai,W.F., Wei,L., Nandakumar,K.S.
            and Liu,D.
  TITLE     HAPLN1 Affects Cell Viability and Promotes the Pro-Inflammatory
            Phenotype of Fibroblast-Like Synoviocytes
  JOURNAL   Front Immunol 13, 888612 (2022)
   PUBMED   35720292
  REMARK    GeneRIF: HAPLN1 Affects Cell Viability and Promotes the
            Pro-Inflammatory Phenotype of Fibroblast-Like Synoviocytes.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 4849)
  AUTHORS   Mundlos,S., Meyer,R., Yamada,Y. and Zabel,B.
  TITLE     Distribution of cartilage proteoglycan (aggrecan) core protein and
            link protein gene expression during human skeletal development
  JOURNAL   Matrix 11 (5), 339-346 (1991)
   PUBMED   1725805
REFERENCE   7  (bases 1 to 4849)
  AUTHORS   Rhodes,C., Savagner,P., Line,S., Sasaki,M., Chirigos,M., Doege,K.
            and Yamada,Y.
  TITLE     Characterization of the promoter for the rat and human link protein
            gene
  JOURNAL   Nucleic Acids Res 19 (8), 1933-1939 (1991)
   PUBMED   2030970
REFERENCE   8  (bases 1 to 4849)
  AUTHORS   Osborne-Lawrence,S.L., Sinclair,A.K., Hicks,R.C., Lacey,S.W.,
            Eddy,R.L. Jr., Byers,M.G., Shows,T.B. and Duby,A.D.
  TITLE     Complete amino acid sequence of human cartilage link protein
            (CRTL1) deduced from cDNA clones and chromosomal assignment of the
            gene
  JOURNAL   Genomics 8 (3), 562-567 (1990)
   PUBMED   2286376
REFERENCE   9  (bases 1 to 4849)
  AUTHORS   Dudhia,J. and Hardingham,T.E.
  TITLE     The primary structure of human cartilage link protein
  JOURNAL   Nucleic Acids Res 18 (8), 2214 (1990)
   PUBMED   2336413
REFERENCE   10 (bases 1 to 4849)
  AUTHORS   Dudhia,J. and Hardingham,T.E.
  TITLE     The primary structure of human cartilage link protein
  JOURNAL   Nucleic Acids Res 18 (5), 1292 (1990)
   PUBMED   2320422
  REMARK    Erratum:[Nucleic Acids Res 1990 Apr 25;18(8):2214]
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC020899.6.
            
            On May 17, 2019 this sequence version replaced NM_001884.3.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: U43328.1, SRR3476690.395751.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2467144 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000274341.9/ ENSP00000274341.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-67                AC020899.6         117451-117517       c
            68-193              AC020899.6         70086-70211         c
            194-565             AC020899.6         49115-49486         c
            566-868             AC020899.6         41025-41327         c
            869-4456            AC020899.6         34860-38447         c
            4457-4849           AC020899.6         34467-34859         c
FEATURES             Location/Qualifiers
     source          1..4849
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q14.3"
     gene            1..4849
                     /gene="HAPLN1"
                     /gene_synonym="CRT1; CRTL1"
                     /note="hyaluronan and proteoglycan link protein 1"
                     /db_xref="GeneID:1404"
                     /db_xref="HGNC:HGNC:2380"
                     /db_xref="MIM:115435"
     exon            1..67
                     /gene="HAPLN1"
                     /gene_synonym="CRT1; CRTL1"
                     /inference="alignment:Splign:2.1.0"
     exon            68..193
                     /gene="HAPLN1"
                     /gene_synonym="CRT1; CRTL1"
                     /inference="alignment:Splign:2.1.0"
     CDS             94..1158
                     /gene="HAPLN1"
                     /gene_synonym="CRT1; CRTL1"
                     /note="Cartilage link protein; cartilage-link protein;
                     proteoglycan link protein; cartilage-linking protein 1"
                     /codon_start=1
                     /product="hyaluronan and proteoglycan link protein 1
                     precursor"
                     /protein_id="NP_001875.1"
                     /db_xref="CCDS:CCDS4061.1"
                     /db_xref="GeneID:1404"
                     /db_xref="HGNC:HGNC:2380"
                     /db_xref="MIM:115435"
                     /translation="MKSLLLLVLISICWADHLSDNYTLDHDRAIHIQAENGPHLLVEA
                     EQAKVFSHRGGNVTLPCKFYRDPTAFGSGIHKIRIKWTKLTSDYLKEVDVFVSMGYHK
                     KTYGGYQGRVFLKGGSDSDASLVITDLTLEDYGRYKCEVIEGLEDDTVVVALDLQGVV
                     FPYFPRLGRYNLNFHEAQQACLDQDAVIASFDQLYDAWRGGLDWCNAGWLSDGSVQYP
                     ITKPREPCGGQNTVPGVRNYGFWDKDKSRYDVFCFTSNFNGRFYYLIHPTKLTYDEAV
                     QACLNDGAQIAKVGQIFAAWKILGYDRCDAGWLADGSVRYPISRPRRRCSPTEAAVRF
                     VGFPDKKHKLYGVYCFRAYN"
     exon            194..565
                     /gene="HAPLN1"
                     /gene_synonym="CRT1; CRTL1"
                     /inference="alignment:Splign:2.1.0"
     exon            566..868
                     /gene="HAPLN1"
                     /gene_synonym="CRT1; CRTL1"
                     /inference="alignment:Splign:2.1.0"
     exon            869..4849
                     /gene="HAPLN1"
                     /gene_synonym="CRT1; CRTL1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2647..2652
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HAPLN1"
                     /gene_synonym="CRT1; CRTL1"
                     /note="hexamer: AATAAA"
     polyA_site      2665
                     /gene="HAPLN1"
                     /gene_synonym="CRT1; CRTL1"
                     /note="major polyA site"
     regulatory      2703..2708
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HAPLN1"
                     /gene_synonym="CRT1; CRTL1"
                     /note="hexamer: AATAAA"
     polyA_site      2721
                     /gene="HAPLN1"
                     /gene_synonym="CRT1; CRTL1"
     regulatory      4430..4435
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HAPLN1"
                     /gene_synonym="CRT1; CRTL1"
                     /note="hexamer: ATTAAA"
     polyA_site      4456
                     /gene="HAPLN1"
                     /gene_synonym="CRT1; CRTL1"
     regulatory      4824..4829
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HAPLN1"
                     /gene_synonym="CRT1; CRTL1"
                     /note="hexamer: ATTAAA"
     polyA_site      4849
                     /gene="HAPLN1"
                     /gene_synonym="CRT1; CRTL1"
ORIGIN      
        1 acttgatctc cagcttccaa cttaagcaga acttgagagc atccgaactc ctggatttca
       61 ggacaagtga agaagattct ttgggctata aagatgaaga gtctacttct tctggtgctg
      121 atttcaatct gctgggctga tcatctttca gacaactata ctctggatca tgacagagct
      181 attcacatcc aagcagaaaa tggcccccat ctacttgtgg aagcagagca agccaaggtg
      241 ttttcacaca gaggtggcaa tgttacactg ccatgtaaat tttatcgaga ccctacagca
      301 tttggctcag gaatccataa aatccgaatt aagtggacca agctaacttc ggattacctc
      361 aaggaagtgg atgtttttgt ttccatggga taccacaaaa aaacctatgg aggctaccag
      421 ggtagagtgt ttctgaaggg aggcagtgat agtgatgctt ctctggtcat cacagacctc
      481 actctggaag attatgggag atataagtgt gaggtgattg aaggattaga agatgatact
      541 gttgtggtag cactggactt acaaggtgtg gtattccctt actttccacg actggggcgc
      601 tacaatctca attttcacga ggcgcagcag gcgtgtctgg accaggatgc tgtgatcgcc
      661 tccttcgacc agctgtacga cgcctggcgg ggcgggctgg actggtgcaa tgccggctgg
      721 ctcagtgatg gctctgtgca atatcccatc acaaagccca gagagccctg tggggggcag
      781 aacacagtgc ccggagtcag gaactacgga ttttgggata aagataaaag cagatatgat
      841 gttttctgtt ttacatccaa tttcaatggc cgtttttact atctgatcca ccccaccaaa
      901 ctgacctatg atgaagcggt gcaagcttgt ctcaatgatg gtgctcagat tgcaaaagtg
      961 ggccagatat ttgctgcctg gaaaattctc ggatatgacc gctgtgatgc gggctggttg
     1021 gcggatggca gcgtccgcta ccccatctct aggccaagaa ggcgctgcag tcctactgag
     1081 gctgcagtgc gcttcgtggg tttcccagat aaaaagcata agctgtatgg tgtctactgc
     1141 ttcagagcat acaactgaat gtgcccttag agcgcatcag ttttaaagtc attaagaaca
     1201 tgtgaaaggt gttttttttt tccaatatga actcatgcaa gttaccaaaa ctgtgataac
     1261 ccttttttac ttactgtaaa gagtcatttt cataaagatc aattcattga tttgtttttt
     1321 gtaaagctat cattcaatat atattataaa ttaatataaa tttaagggaa gctctatgta
     1381 aggagactta gagccaaact gtttaagctg tatcatccca acaaagtatc ctttcatgaa
     1441 cggggcatgc aatagcttaa gaattgctag gattaaatta aggaaagtaa agctactcag
     1501 agcagcaggt tccacaagca caaactttac acatttgtac aattttgaaa tgcactacaa
     1561 taaacaaatt agagcaacac atttgaaata caggcttctt tacataaact gagaggttat
     1621 acaaaactca gtttcacaag ggaacaatct atacctttct aaaagttaat atttcaagtc
     1681 tctaataggc agaatatttt actctttaaa atcctgcctt tctgaccaaa aaaaaaaaaa
     1741 aaaattcata tggattccaa tccatagtaa caagcacagt taaaactcct caataatccc
     1801 atttatatga agcatgacac ataaataagc agataatatt taaccaatga aaaagacttc
     1861 taccttctta taattaaaat tacacatgtc taagaggaat tgttttatct tttgagtagc
     1921 tttaccgagt tgtatttaaa ttctaagggc catttgctaa gcagcattta gcatctactc
     1981 agggcagtta tatagataaa ctgctggaca gaaaaattgt aaaatttagc agcttgattt
     2041 tctgttagcc tatgaaatgt tattgtccta taaaaataac tttaaactga tttaatattt
     2101 catatttaca ttatatgaaa atcaattaca ttataaaagg aatccctaat gcagaaacaa
     2161 agatgcaact ttcaaaattc ttattattcc tatttgtata tacacgagag aacccaacca
     2221 gtgcctgtgt ttggggggaa aagtcaacag tgtagttcta aaccttatcc caaacagaaa
     2281 atgtggttaa tgatgtcact ttccttgctg gtcatcatta ggcttaaatt aaatgctgaa
     2341 gctgtcatca aagagtttac actaaaatct tcagggcttt aaataaaagg ttaagtccag
     2401 cttccaaaca caattttcca cattagcagc tccaatcttc ttaaataaag ctctgttttc
     2461 ctatattttt atgactgctg agaccccaca gggaccaata tttgtattca aattacattt
     2521 catggtttcc cattgtttca caatgagttc taataaatgg gatttactat aataatccaa
     2581 gtatgacata gccggtatgc tttcatgaat gtttttatgt agattttcct cccatgaaca
     2641 tgagtaaata aatctgtttc ctgaatggat tgtggttgca tttaaagctc tgtaataatt
     2701 ctaataaatt tactctatag agttctgtgt gtggaaggta tagaacaatt ggaagtccat
     2761 gaaaccataa ctataatcat atattattca gacaaaatat tgtaataaaa gtaggtcctt
     2821 tctttcatca aaaacatatc tgaaaatttt cagatgcttt aatattaaaa gatgacaatg
     2881 ttatgtatgc acatttttaa gttaggttgg atatgcaaac tgtacaaaac tataaatcca
     2941 aagagtttgt aaagtttaaa ctcaaacact ggtggtataa atagaacttg cacttctaaa
     3001 ttaaggaaga tacctaaatg gtctaggatg agatgatata ttatttaaag aggggactat
     3061 ctcccaaata acaactttaa cacctcaaat atgggggcta gctcattgaa agaagtccat
     3121 acttgaacta ttattatgta tgttccgata attttgttga aaatacaagt gggaacaaat
     3181 ttctattgaa gcaaacatct aattttcagt tatgtccaga actctacttt ataatgttaa
     3241 atgtagtagt atttcttaac ttttaaatac ttactactat aggaattggt gctgatcaaa
     3301 atctctggag tgactgttag ctgattaaaa tctataccac ttacacatca tttttccatt
     3361 cgtgtaaaaa acaaaaaatc ttaacacagt gaatactgct gagcagaatt ttttcttctc
     3421 attttgctca aaggaccaga atttccatgc cctttatact catacttgaa tgagtctttt
     3481 taatgttctc attttgctgt ttttccacca aatgtctatt ttcctacttc attccccaag
     3541 atgtctcact gagcaggtct gaaaaagaaa ggttattcta atacaattcc taacagaaag
     3601 ttggtacaac actggctaat tcagaaatcg ctcctcagac ttagattcca agagtatcaa
     3661 agagattaga tgggaggctg ggccaggaac ccttgtttta atgtatttgt ccataattaa
     3721 cactggtgac catataagga acaaagtata tctgcacatt tcactgagac atctacattg
     3781 gaaaacccaa acaaaaagaa gcaattcaaa taaaaagaca acataagaac gaaaataagt
     3841 tggtcacatt aacactggaa gccatcttta agtgagtgct gtcatattgt gtcacagtaa
     3901 tttttagcca aatatggcgt ttgtaaattt aaactttctc tcatggaaag ggggctggta
     3961 cctgtcaaag tgttatttta tgcaacaata tagtcacttt ttattttggc aattagaagt
     4021 agactcaaag gagattacaa tttggttgct ggcagccatt ctgggtttct tgattttagt
     4081 actccaaaga atatggtggt ctcatggagt agctgaccac taaggagggg aggattaaaa
     4141 gggaatcact tatcagtttt tagcatagga tgcattaaga aatatcaacg gataactgac
     4201 atcgttttgt taagaagtta actgtatcgt agctcactac tgccagagcg gcaatggatg
     4261 tacaacgaaa gagatgaaaa atacaaaagt tattaagcca cctgattaaa agaaaaccaa
     4321 tatttaaagg catttaatag atatcaagta taactttgag gagaagaatc aatctgtatt
     4381 accaaaaaaa aaatgttttg attttctgta agatacaatg aactggtaca ttaaaagtca
     4441 attttgtgtt actgcagtat cttttaattc ttctgagttg tagaatctta gctatttttc
     4501 tttgtgtcaa actctgtcaa tacattattt ccaagaaagg catttaattc attcttgttc
     4561 tgatacattt gacttcaaat tgtaaatacg tacaattttc atttcctagt actcttgcaa
     4621 agtcaaaaaa aaaaaaagag catttatatg gtgtcgctaa atcaactata gtattatccc
     4681 aaaatatatt gacttttttc tctttgtata tgactcaaag cataattaat tttgcccacc
     4741 agttcagcaa tcccagaaat ctattgtgtt gttgattaga ttaacacatt ttaaatgctt
     4801 tataacttaa tcatgagtgc tgaattaaaa aaaggttttt cttttcata
//
