LOCUS       NM_030787               2814 bp    mRNA    linear   PRI 10-FEB-2025
DEFINITION  Homo sapiens complement factor H related 5 (CFHR5), mRNA.
ACCESSION   NM_030787
VERSION     NM_030787.4
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 2814)
  AUTHORS   Lee,J.H., Lee,S.H., Jeon,C., Han,J., Kim,S.H., Youn,J., Park,Y.S.,
            Kim,T.J., Kim,J.S., Jo,S., Kim,T.H. and Son,C.N.
  TITLE     The complement factor H-related protein-5 (CFHR5) exacerbates
            pathological bone formation in ankylosing spondylitis
  JOURNAL   J Mol Med (Berl) 102 (4), 571-583 (2024)
   PUBMED   38418621
  REMARK    GeneRIF: The complement factor H-related protein-5 (CFHR5)
            exacerbates pathological bone formation in ankylosing spondylitis.
REFERENCE   2  (bases 1 to 2814)
  AUTHORS   Peng,Y.L., Li,H., Sun,P., Zhang,H.D., Li,D., Wang,H.B. and Zhang,L.
  TITLE     Causal association between complement system FHR-5, CTRP9, and
            breast carcinoma in situ: a Mendelian randomization study
  JOURNAL   Eur Rev Med Pharmacol Sci 28 (6), 2363-2371 (2024)
   PUBMED   38567599
  REMARK    GeneRIF: Causal association between complement system FHR-5, CTRP9,
            and breast carcinoma in situ: a Mendelian randomization study.
REFERENCE   3  (bases 1 to 2814)
  AUTHORS   Iglesias,M.J., Sanchez-Rivera,L., Ibrahim-Kosta,M., Naudin,C.,
            Munsch,G., Goumidi,L., Farm,M., Smith,P.M., Thibord,F.,
            Kral-Pointner,J.B., Hong,M.G., Suchon,P., Germain,M.,
            Schrottmaier,W., Dusart,P., Boland,A., Kotol,D., Edfors,F.,
            Koprulu,M., Pietzner,M., Langenberg,C., Damrauer,S.M.,
            Johnson,A.D., Klarin,D.M., Smith,N.L., Smadja,D.M., Holmstrom,M.,
            Magnusson,M., Silveira,A., Uhlen,M., Renne,T., Martinez-Perez,A.,
            Emmerich,J., Deleuze,J.F., Antovic,J., Soria Fernandez,J.M.,
            Assinger,A., Schwenk,J.M., Souto Andres,J.C., Morange,P.E.,
            Butler,L.M., Tregouet,D.A. and Odeberg,J.
  TITLE     Elevated plasma complement factor H related 5 protein is associated
            with venous thromboembolism
  JOURNAL   Nat Commun 14 (1), 3280 (2023)
   PUBMED   37286573
  REMARK    GeneRIF: Elevated plasma complement factor H related 5 protein is
            associated with venous thromboembolism.
            Erratum:[Nat Commun. 2023 Nov 27;14(1):7752. doi:
            10.1038/s41467-023-43764-4.. PMID: 38012230]
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2814)
  AUTHORS   Papp,A., Papp,K., Uzonyi,B., Cserhalmi,M., Csincsi,A.I., Szabo,Z.,
            Banlaki,Z., Ermert,D., Prohaszka,Z., Erdei,A., Ferreira,V.P.,
            Blom,A.M. and Jozsi,M.
  TITLE     Complement Factor H-Related Proteins FHR1 and FHR5 Interact With
            Extracellular Matrix Ligands, Reduce Factor H Regulatory Activity
            and Enhance Complement Activation
  JOURNAL   Front Immunol 13, 845953 (2022)
   PUBMED   35392081
  REMARK    GeneRIF: Complement Factor H-Related Proteins FHR1 and FHR5
            Interact With Extracellular Matrix Ligands, Reduce Factor H
            Regulatory Activity and Enhance Complement Activation.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2814)
  AUTHORS   Garam,N., Cserhalmi,M., Prohaszka,Z., Szilagyi,A., Veszeli,N.,
            Szabo,E., Uzonyi,B., Ilias,A., Aigner,C., Schmidt,A., Gaggl,M.,
            Sunder-Plassmann,G., Bajcsi,D., Brunner,J., Dumfarth,A., Cejka,D.,
            Flaschberger,S., Flogelova,H., Haris,A., Hartmann,A., Heilos,A.,
            Mueller,T., Rusai,K., Arbeiter,K., Hofer,J., Jakab,D., Sinko,M.,
            Szigeti,E., Bereczki,C., Janko,V., Kelen,K., Reusz,G.S.,
            Szabo,A.J., Klenk,N., Kobor,K., Kojc,N., Knechtelsdorfer,M.,
            Laganovic,M., Lungu,A.C., Meglic,A., Rus,R., Kersnik Levart,T.,
            Macioniene,E., Miglinas,M., Pawlowska,A., Stompor,T., Podracka,L.,
            Rudnicki,M., Mayer,G., Rysava,R., Reiterova,J., Saraga,M.,
            Seeman,T., Zieg,J., Sladkova,E., Stajic,N., Szabo,T.,
            Capitanescu,A., Stancu,S., Tisljar,M., Galesic,K., Tisler,A.,
            Vainumae,I., Windpessl,M., Zaoral,T., Zlatanova,G., Jozsi,M. and
            Csuka,D.
  TITLE     FHR-5 Serum Levels and CFHR5 Genetic Variations in Patients With
            Immune Complex-Mediated Membranoproliferative Glomerulonephritis
            and C3-Glomerulopathy
  JOURNAL   Front Immunol 12, 720183 (2021)
   PUBMED   34566977
  REMARK    GeneRIF: FHR-5 Serum Levels and CFHR5 Genetic Variations in
            Patients With Immune Complex-Mediated Membranoproliferative
            Glomerulonephritis and C3-Glomerulopathy.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2814)
  AUTHORS   McRae,J.L., Murphy,B.E., Eyre,H.J., Sutherland,G.R., Crawford,J.
            and Cowan,P.J.
  TITLE     Location and structure of the human FHR-5 gene
  JOURNAL   Genetica 114 (2), 157-161 (2002)
   PUBMED   12041828
  REMARK    GeneRIF: Maps to between FHR-2 and the non-complement protein
            factor XIIIb at 1q32.
REFERENCE   7  (bases 1 to 2814)
  AUTHORS   Murphy,B., Georgiou,T., Machet,D., Hill,P. and McRae,J.
  TITLE     Factor H-related protein-5: a novel component of human glomerular
            immune deposits
  JOURNAL   Am J Kidney Dis 39 (1), 24-27 (2002)
   PUBMED   11774097
REFERENCE   8  (bases 1 to 2814)
  AUTHORS   Narkio-Makela,M., Hellwage,J., Tahkokallio,O. and Meri,S.
  TITLE     Complement-regulator factor H and related proteins in otitis media
            with effusion
  JOURNAL   Clin Immunol 100 (1), 118-126 (2001)
   PUBMED   11414752
REFERENCE   9  (bases 1 to 2814)
  AUTHORS   McRae,J.L., Cowan,P.J., Power,D.A., Mitchelhill,K.I., Kemp,B.E.,
            Morgan,B.P. and Murphy,B.F.
  TITLE     Human factor H-related protein 5 (FHR-5). A new
            complement-associated protein
  JOURNAL   J Biol Chem 276 (9), 6747-6754 (2001)
   PUBMED   11058592
REFERENCE   10 (bases 1 to 2814)
  AUTHORS   Martin,B. and Smith,R.J.H.
  TITLE     C3 Glomerulopathy
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301598
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA638244.1, BC111773.1,
            BG568555.1, AF295327.1 and AL353809.20.
            
            On Aug 31, 2019 this sequence version replaced NM_030787.3.
            
            Summary: This gene is a member of a small complement factor H (CFH)
            gene cluster on chromosome 1. Each member of this gene family
            contains multiple short consensus repeats (SCRs) typical of
            regulators of complement activation. The protein encoded by this
            gene has nine SCRs with the first two repeats having heparin
            binding properties, a region within repeats 5-7 having heparin
            binding and C reactive protein binding properties, and the
            C-terminal repeats being similar to a complement component 3 b
            (C3b) binding domain. This protein co-localizes with C3, binds C3b
            in a dose-dependent manner, and is recruited to tissues damaged by
            C-reactive protein. Allelic variations in this gene have been
            associated, but not causally linked, with two different forms of
            kidney disease: membranoproliferative glomerulonephritis type II
            (MPGNII) and hemolytic uraemic syndrome (HUS). [provided by RefSeq,
            Jan 2010].
            
            Sequence Note: An in-frame AUG is located 24 codons upstream of the
            annotated translation start site but is not being annotated as a
            start site since it is not conserved and is in a weak Kozak
            sequence context.
            
            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 :: AF295327.1, BC111773.1 [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            CDS uses downstream in-frame AUG :: upstream AUG and CDS extension
                                                is not conserved
            MANE Ensembl match               :: ENST00000256785.5/
                                                ENSP00000256785.4
            RefSeq Select criteria           :: based on conservation,
                                                expression
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-30                DA638244.1         20-49
            31-2497             BC111773.1         15-2481
            2498-2620           BG568555.1         395-517
            2621-2660           AF295327.1         2606-2645
            2661-2661           BG568555.1         557-557
            2662-2810           AF295327.1         2647-2795
            2811-2814           AL353809.20        19003-19006
FEATURES             Location/Qualifiers
     source          1..2814
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q31.3"
     gene            1..2814
                     /gene="CFHR5"
                     /gene_synonym="CFHL5; CFHR5D; FHR-5; FHR5"
                     /note="complement factor H related 5"
                     /db_xref="GeneID:81494"
                     /db_xref="HGNC:HGNC:24668"
                     /db_xref="MIM:608593"
     exon            1..167
                     /gene="CFHR5"
                     /gene_synonym="CFHL5; CFHR5D; FHR-5; FHR5"
                     /inference="alignment:Splign:2.1.0"
     CDS             110..1819
                     /gene="CFHR5"
                     /gene_synonym="CFHL5; CFHR5D; FHR-5; FHR5"
                     /note="factor H-related protein 5"
                     /codon_start=1
                     /product="complement factor H-related protein 5 precursor"
                     /protein_id="NP_110414.1"
                     /db_xref="CCDS:CCDS1387.1"
                     /db_xref="GeneID:81494"
                     /db_xref="HGNC:HGNC:24668"
                     /db_xref="MIM:608593"
                     /translation="MLLLFSVILISWVSTVGGEGTLCDFPKIHHGFLYDEEDYNPFSQ
                     VPTGEVFYYSCEYNFVSPSKSFWTRITCTEEGWSPTPKCLRMCSFPFVKNGHSESSGL
                     IHLEGDTVQIICNTGYSLQNNEKNISCVERGWSTPPICSFTKGECHVPILEANVDAQP
                     KKESYKVGDVLKFSCRKNLIRVGSDSVQCYQFGWSPNFPTCKGQVRSCGPPPQLSNGE
                     VKEIRKEEYGHNEVVEYDCNPNFIINGPKKIQCVDGEWTTLPTCVEQVKTCGYIPELE
                     YGYVQPSVPPYQHGVSVEVNCRNEYAMIGNNMITCINGIWTELPMCVATHQLKRCKIA
                     GVNIKTLLKLSGKEFNHNSRIRYRCSDIFRYRHSVCINGKWNPEVDCTEKREQFCPPP
                     PQIPNAQNMTTTVNYQDGEKVAVLCKENYLLPEAKEIVCKDGRWQSLPRCVESTAYCG
                     PPPSINNGDTTSFPLSVYPPGSTVTYRCQSFYKLQGSVTVTCRNKQWSEPPRCLDPCV
                     VSEENMNKNNIQLKWRNDGKLYAKTGDAVEFQCKFPHKAMISSPPFRAICQEGKFEYP
                     ICE"
     exon            168..362
                     /gene="CFHR5"
                     /gene_synonym="CFHL5; CFHR5D; FHR-5; FHR5"
                     /inference="alignment:Splign:2.1.0"
     exon            363..539
                     /gene="CFHR5"
                     /gene_synonym="CFHL5; CFHR5D; FHR-5; FHR5"
                     /inference="alignment:Splign:2.1.0"
     exon            540..716
                     /gene="CFHR5"
                     /gene_synonym="CFHL5; CFHR5D; FHR-5; FHR5"
                     /inference="alignment:Splign:2.1.0"
     exon            717..899
                     /gene="CFHR5"
                     /gene_synonym="CFHL5; CFHR5D; FHR-5; FHR5"
                     /inference="alignment:Splign:2.1.0"
     exon            900..1079
                     /gene="CFHR5"
                     /gene_synonym="CFHL5; CFHR5D; FHR-5; FHR5"
                     /inference="alignment:Splign:2.1.0"
     exon            1080..1256
                     /gene="CFHR5"
                     /gene_synonym="CFHL5; CFHR5D; FHR-5; FHR5"
                     /inference="alignment:Splign:2.1.0"
     exon            1257..1439
                     /gene="CFHR5"
                     /gene_synonym="CFHL5; CFHR5D; FHR-5; FHR5"
                     /inference="alignment:Splign:2.1.0"
     exon            1440..1622
                     /gene="CFHR5"
                     /gene_synonym="CFHL5; CFHR5D; FHR-5; FHR5"
                     /inference="alignment:Splign:2.1.0"
     exon            1623..2814
                     /gene="CFHR5"
                     /gene_synonym="CFHL5; CFHR5D; FHR-5; FHR5"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1839..1844
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CFHR5"
                     /gene_synonym="CFHL5; CFHR5D; FHR-5; FHR5"
                     /note="hexamer: AATATA"
     polyA_site      1859
                     /gene="CFHR5"
                     /gene_synonym="CFHL5; CFHR5D; FHR-5; FHR5"
                     /note="major polyA site"
     regulatory      2720..2725
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CFHR5"
                     /gene_synonym="CFHL5; CFHR5D; FHR-5; FHR5"
                     /note="hexamer: AATAAA"
     polyA_site      2743
                     /gene="CFHR5"
                     /gene_synonym="CFHL5; CFHR5D; FHR-5; FHR5"
                     /note="major polyA site"
     regulatory      2787..2792
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CFHR5"
                     /gene_synonym="CFHL5; CFHR5D; FHR-5; FHR5"
                     /note="hexamer: ATTAAA"
     polyA_site      2814
                     /gene="CFHR5"
                     /gene_synonym="CFHL5; CFHR5D; FHR-5; FHR5"
                     /note="major polyA site"
ORIGIN      
        1 agtacattga aattcaaagt catgcttgta actgttaatg aaagcagatt taaagcaaca
       61 ccaccatcac tggagtattt ttagttatat acgattgaga ctaccaagca tgttgctctt
      121 attcagtgta atcctaatct catgggtatc cactgttggg ggagaaggaa cactttgtga
      181 ttttccaaaa atacaccatg gatttctgta tgatgaagaa gattataacc ctttttccca
      241 agttcctaca ggggaagttt tctattactc ctgtgaatat aattttgtgt ctccttcaaa
      301 atccttttgg actcgcataa catgcacaga agaaggatgg tcaccaacac cgaagtgtct
      361 cagaatgtgt tcctttcctt ttgtgaaaaa tggtcattct gaatcttcag gactaataca
      421 tctggaaggt gatactgtac aaattatttg caacacagga tacagccttc aaaacaatga
      481 gaaaaacatt tcgtgtgtag aacggggctg gtccactcct cccatatgca gcttcactaa
      541 aggagaatgt catgttccaa ttttagaagc caatgtagat gctcagccaa aaaaagaaag
      601 ctacaaagtt ggagacgtgt tgaaattctc ctgcagaaaa aatcttataa gagttggatc
      661 agactcagtt caatgttacc aatttgggtg gtcacctaac tttccaacat gcaaaggaca
      721 agtacgatca tgtggtccac ctcctcaact ctccaatggt gaagttaagg agataagaaa
      781 agaggaatat ggacacaatg aagtagtgga atatgattgc aatcctaatt ttataataaa
      841 cgggcctaag aaaatacaat gtgtggatgg agaatggaca actttaccca cttgtgttga
      901 acaagtgaaa acatgtggat acatacctga actcgagtac ggttatgttc agccgtctgt
      961 ccctccctat caacatggag tttcagtcga ggtgaattgc agaaatgaat atgcaatgat
     1021 tggaaataac atgattacct gtattaatgg aatatggaca gagcttccta tgtgtgttgc
     1081 aacacaccaa cttaagaggt gcaaaatagc aggagttaat ataaaaacat tactcaagct
     1141 atctgggaaa gaatttaatc ataattctag aatacgttac agatgttcag acatcttcag
     1201 atacaggcac tcagtctgta taaacgggaa atggaatcct gaagtagact gcacagaaaa
     1261 aagggaacaa ttctgcccac cgccacctca gatacctaat gctcagaata tgacaaccac
     1321 agtgaattat caggatggag aaaaagtagc tgttctctgt aaagaaaact atctacttcc
     1381 agaagcaaaa gaaattgtat gtaaagatgg acgatggcaa tcattaccac gctgtgttga
     1441 gtctactgca tattgtgggc cccctccatc tattaacaat ggagatacca cctcattccc
     1501 attatcagta tatcctccag ggtcaacagt gacgtaccgt tgccagtcct tctataaact
     1561 ccagggctct gtaactgtaa catgcagaaa taaacagtgg tcagaaccac caagatgcct
     1621 agatccatgt gtggtatctg aagaaaacat gaacaaaaat aacatacagt taaaatggag
     1681 aaacgatgga aaactctatg caaaaacagg ggatgctgtt gaattccagt gtaaattccc
     1741 acataaagcg atgatatcat caccaccatt tcgagcaatc tgtcaggaag ggaaatttga
     1801 atatcctata tgtgaatgaa gcaagcataa ttttcctgaa tatattcttc aaacatccat
     1861 ctatgctaaa agtagccatt atgtagccaa ttctgtagtt acttctttta ttctttcagg
     1921 tgttgtttaa ctcagtttta tttagaactc tggattttta gagctttaga aatttgtaag
     1981 ctgagagaac aatgtttcac ttaataggag ggtgtcttag tccatattac attgttataa
     2041 cagagtatca cagactggat aacttctaac caatagttta tttgtttcat aaatctaaaa
     2101 gctgagaagt ccaagatggt ggggctgcct ctggtgaggg tcttctcgaa gcatcataat
     2161 atgctggaag gcatcacaac atggtggaag ggatcacgtg gcaaaagagc atgtacatgg
     2221 gagtgagaga aaaagagaga gagagacaga gtggcggggg cggggaggag cgcaaactca
     2281 tcctttataa agacaccact cctgagataa caatccaatc ccatgataat gacattaatc
     2341 cattcaagaa gatagagctc tcgtgactta atcaccttct aaagatctca cctgacaaca
     2401 ctgttgcatt ggcagttaag tttccacgta aactttcggg gacacattca aaccacagga
     2461 gaaactcaaa ttgttcctgg gcaaatcaca acatggggaa ttttattcat aaatgtccac
     2521 agaaacagta aatgttctcg cttcagtact taattcatct aatccctcct gtttgtctca
     2581 aattatagga taactttgaa actttctgaa ttaacgttat ttaaaaggaa atgtagatgt
     2641 tattttagtc tctatcttca tgttattatc acttaaaaac ctgcgaaagc tgtcaacttt
     2701 tgtggttgta gcaagtatta ataaatattt ataaatcctc taatgtaagt ctagctacct
     2761 atccaatact aaatacccct taaagtatta aatgcactat ctgctgtaaa agaa
//
