LOCUS       NM_021023               2934 bp    mRNA    linear   PRI 12-OCT-2024
DEFINITION  Homo sapiens complement factor H related 3 (CFHR3), transcript
            variant 1, mRNA.
ACCESSION   NM_021023
VERSION     NM_021023.6
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 2934)
  AUTHORS   Tasaki,Y., Tsujimoto,H., Yokoyama,T., Sugimoto,N., Kitajima,S.,
            Fujii,H., Hidaka,Y., Kato,N., Maruyama,S., Inoue,N. and Wada,T.
  TITLE     Case report: A family of atypical hemolytic uremic syndrome
            involving a CFH::CFHR1 fusion gene and CFHR3-1-4-2 gene duplication
  JOURNAL   Front Immunol 15, 1360855 (2024)
   PUBMED   38524137
  REMARK    GeneRIF: Case report: A family of atypical hemolytic uremic
            syndrome involving a CFH::CFHR1 fusion gene and CFHR3-1-4-2 gene
            duplication.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2934)
  AUTHORS   Hamza,A., El-Sissy,C., Yousfi,N., Martins,P.V., Rafat,C.,
            Masliah-Planchon,J., Fremeaux-Bacchi,V. and Mesnard,L.
  TITLE     The absence of CFHR3 and CFHR1 genes from the T2T-CHM13 assembly
            can limit the molecular diagnosis of complement-related diseases
  JOURNAL   Eur J Hum Genet 31 (7), 730-732 (2023)
   PUBMED   37032353
  REMARK    GeneRIF: The absence of CFHR3 and CFHR1 genes from the T2T-CHM13
            assembly can limit the molecular diagnosis of complement-related
            diseases.
REFERENCE   3  (bases 1 to 2934)
  AUTHORS   Piras,R., Valoti,E., Alberti,M., Bresin,E., Mele,C., Breno,M.,
            Liguori,L., Donadelli,R., Rigoldi,M., Benigni,A., Remuzzi,G. and
            Noris,M.
  TITLE     CFH and CFHR structural variants in atypical Hemolytic Uremic
            Syndrome: Prevalence, genomic characterization and impact on
            outcome
  JOURNAL   Front Immunol 13, 1011580 (2023)
   PUBMED   36793547
  REMARK    GeneRIF: CFH and CFHR structural variants in atypical Hemolytic
            Uremic Syndrome: Prevalence, genomic characterization and impact on
            outcome.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2934)
  AUTHORS   Kumar,V., Pouw,R.B., Autio,M.I., Sagmeister,M.G., Phua,Z.Y.,
            Borghini,L., Wright,V.J., Hoggart,C., Pan,B., Tan,A.K.Y.,
            Binder,A., Brouwer,M.C., Pinnock,E., De Groot,R., Hazelzet,J.,
            Emonts,M., Van Der Flier,M., Reiter,K., Nothen,M.M., Hoffmann,P.,
            Schlapbach,L.J., Bellos,E., Anderson,S., Secka,F.,
            Martinon-Torres,F., Salas,A., Fink,C., Carrol,E.D., Pollard,A.J.,
            Coin,L.J., Zenz,W., Wouters,D., Ang,L.T., Hibberd,M.L., Levin,M.,
            Kuijpers,T.W. and Davila,S.
  CONSRTM   EUCLIDS consortium
  TITLE     Variation in CFHR3 determines susceptibility to meningococcal
            disease by controlling factor H concentrations
  JOURNAL   Am J Hum Genet 109 (9), 1680-1691 (2022)
   PUBMED   36007525
  REMARK    GeneRIF: Variation in CFHR3 determines susceptibility to
            meningococcal disease by controlling factor H concentrations.
REFERENCE   5  (bases 1 to 2934)
  AUTHORS   Raina,R., Mangat,G., Hong,G., Shah,R., Nair,N., Abboud,B., Bagga,S.
            and Sethi,S.K.
  TITLE     Anti-factor H antibody and its role in atypical hemolytic uremic
            syndrome
  JOURNAL   Front Immunol 13, 931210 (2022)
   PUBMED   36091034
  REMARK    GeneRIF: Anti-factor H antibody and its role in atypical hemolytic
            uremic syndrome.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2934)
  AUTHORS   Hellwage,J., Jokiranta,T.S., Koistinen,V., Vaarala,O., Meri,S. and
            Zipfel,P.F.
  TITLE     Functional properties of complement factor H-related proteins FHR-3
            and FHR-4: binding to the C3d region of C3b and differential
            regulation by heparin
  JOURNAL   FEBS Lett 462 (3), 345-352 (1999)
   PUBMED   10622723
REFERENCE   7  (bases 1 to 2934)
  AUTHORS   Diaz-Guillen,M.A., Rodriguez de Cordoba,S. and Heine-Suner,D.
  TITLE     A radiation hybrid map of complement factor H and factor H-related
            genes
  JOURNAL   Immunogenetics 49 (6), 549-552 (1999)
   PUBMED   10380701
REFERENCE   8  (bases 1 to 2934)
  AUTHORS   Zipfel,P.F. and Skerka,C.
  TITLE     Complement factor H and related proteins: an expanding family of
            complement-regulatory proteins?
  JOURNAL   Immunol Today 15 (3), 121-126 (1994)
   PUBMED   8172644
  REMARK    Review article
REFERENCE   9  (bases 1 to 2934)
  AUTHORS   Skerka,C., Kuhn,S., Gunther,K., Lingelbach,K. and Zipfel,P.F.
  TITLE     A novel short consensus repeat-containing molecule is related to
            human complement factor H
  JOURNAL   J Biol Chem 268 (4), 2904-2908 (1993)
   PUBMED   8428964
REFERENCE   10 (bases 1 to 2934)
  AUTHORS   Noris,M., Bresin,E., Mele,C. and Remuzzi,G.
  TITLE     Genetic Atypical Hemolytic-Uremic Syndrome
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301541
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BG618529.1, BC058009.1 and
            AL049741.8.
            
            On Dec 4, 2019 this sequence version replaced NM_021023.5.
            
            Summary: The protein encoded by this gene is a secreted protein,
            which belongs to the complement factor H-related protein family. It
            binds to heparin, and may be involved in complement regulation.
            Mutations in this gene are associated with decreased risk of
            age-related macular degeneration, and with an increased risk of
            atypical hemolytic-uremic syndrome. Alternatively spliced
            transcript variants encoding different isoforms have been found for
            this gene. [provided by RefSeq, Oct 2011].
            
            Transcript Variant: This variant (1) encodes the longer isoform
            (1).
            
            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 :: BC058009.1, X68679.1 [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000367425.9/ ENSP00000356395.5
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-19                BG618529.1         42-60
            20-1600             BC058009.1         18-1598
            1601-2934           AL049741.8         23742-25075
FEATURES             Location/Qualifiers
     source          1..2934
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q31.3"
     gene            1..2934
                     /gene="CFHR3"
                     /gene_synonym="CFHL3; DOWN16; FHR-3; FHR3; HLF4"
                     /note="complement factor H related 3"
                     /db_xref="GeneID:10878"
                     /db_xref="HGNC:HGNC:16980"
                     /db_xref="MIM:605336"
     exon            1..105
                     /gene="CFHR3"
                     /gene_synonym="CFHL3; DOWN16; FHR-3; FHR3; HLF4"
                     /inference="alignment:Splign:2.1.0"
     CDS             48..1040
                     /gene="CFHR3"
                     /gene_synonym="CFHL3; DOWN16; FHR-3; FHR3; HLF4"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1; H factor-like protein 3; complement factor
                     H-related protein 3; H factor-like 4"
                     /codon_start=1
                     /product="complement factor H-related protein 3 isoform 1
                     precursor"
                     /protein_id="NP_066303.2"
                     /db_xref="CCDS:CCDS30958.1"
                     /db_xref="GeneID:10878"
                     /db_xref="HGNC:HGNC:16980"
                     /db_xref="MIM:605336"
                     /translation="MLLLINVILTLWVSCANGQVKPCDFPDIKHGGLFHENMRRPYFP
                     VAVGKYYSYYCDEHFETPSGSYWDYIHCTQNGWSPAVPCLRKCYFPYLENGYNQNYGR
                     KFVQGNSTEVACHPGYGLPKAQTTVTCTEKGWSPTPRCIRVRTCSKSDIEIENGFISE
                     SSSIYILNKEIQYKCKPGYATADGNSSGSITCLQNGWSAQPICINSSEKCGPPPPISN
                     GDTTSFLLKVYVPQSRVEYQCQPYYELQGSNYVTCSNGEWSEPPRCIHPCIITEENMN
                     KNNIKLKGRSDRKYYAKTGDTIEFMCKLGYNANTSILSFQAVCREGIVEYPRCE"
     exon            106..300
                     /gene="CFHR3"
                     /gene_synonym="CFHL3; DOWN16; FHR-3; FHR3; HLF4"
                     /inference="alignment:Splign:2.1.0"
     exon            301..477
                     /gene="CFHR3"
                     /gene_synonym="CFHL3; DOWN16; FHR-3; FHR3; HLF4"
                     /inference="alignment:Splign:2.1.0"
     exon            478..660
                     /gene="CFHR3"
                     /gene_synonym="CFHL3; DOWN16; FHR-3; FHR3; HLF4"
                     /inference="alignment:Splign:2.1.0"
     exon            661..843
                     /gene="CFHR3"
                     /gene_synonym="CFHL3; DOWN16; FHR-3; FHR3; HLF4"
                     /inference="alignment:Splign:2.1.0"
     exon            844..2934
                     /gene="CFHR3"
                     /gene_synonym="CFHL3; DOWN16; FHR-3; FHR3; HLF4"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1252..1257
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CFHR3"
                     /gene_synonym="CFHL3; DOWN16; FHR-3; FHR3; HLF4"
                     /note="hexamer: AATAAA"
     polyA_site      1275
                     /gene="CFHR3"
                     /gene_synonym="CFHL3; DOWN16; FHR-3; FHR3; HLF4"
                     /note="major polyA site"
     regulatory      1997..2002
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CFHR3"
                     /gene_synonym="CFHL3; DOWN16; FHR-3; FHR3; HLF4"
                     /note="hexamer: AATAAA"
     polyA_site      2032
                     /gene="CFHR3"
                     /gene_synonym="CFHL3; DOWN16; FHR-3; FHR3; HLF4"
     regulatory      2608..2613
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CFHR3"
                     /gene_synonym="CFHL3; DOWN16; FHR-3; FHR3; HLF4"
                     /note="hexamer: AATAAA"
     polyA_site      2626
                     /gene="CFHR3"
                     /gene_synonym="CFHL3; DOWN16; FHR-3; FHR3; HLF4"
                     /note="major polyA site"
     regulatory      2909..2914
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CFHR3"
                     /gene_synonym="CFHL3; DOWN16; FHR-3; FHR3; HLF4"
                     /note="hexamer: ATTAAA"
     polyA_site      2934
                     /gene="CFHR3"
                     /gene_synonym="CFHL3; DOWN16; FHR-3; FHR3; HLF4"
ORIGIN      
        1 agtgcaactg aaacttttgt attagcatac tactgagaat atctaacatg ttgttactaa
       61 tcaatgtcat tctgaccttg tgggtttcct gtgctaatgg acaagtgaaa ccttgtgatt
      121 ttccagacat taaacatgga ggtctatttc atgagaatat gcgtagacca tactttccag
      181 tagctgtagg aaaatattac tcctattact gtgatgaaca ttttgagact ccttcaggaa
      241 gttactggga ttacattcat tgcacacaaa atgggtggtc accagcagta ccatgtctca
      301 gaaaatgtta ttttccttat ttggaaaatg gatataatca aaattatgga agaaagtttg
      361 tacagggtaa ctctacagaa gttgcctgcc atcctggcta cggtcttcca aaagcgcaga
      421 ccacagttac atgtacggag aaaggctggt ctcctactcc cagatgcatc cgtgtcagaa
      481 catgctcaaa atcagatata gaaattgaaa atggattcat ttccgaatct tcctctattt
      541 atattttaaa taaagaaata caatataaat gtaaaccagg atatgcaaca gcagatggaa
      601 attcttcagg atcaattaca tgtttgcaaa atggatggtc agcacaacca atttgcatta
      661 attcttcaga aaagtgtggg cctcctccac ctattagcaa tggtgatacc acctcctttc
      721 tactaaaagt gtatgtgcca cagtcaagag tcgagtacca atgccagccc tactatgaac
      781 ttcagggttc taattatgta acatgtagta atggagagtg gtcggaacca ccaagatgca
      841 tacatccatg tataataact gaagaaaaca tgaataaaaa taacataaag ttaaaaggaa
      901 gaagtgacag aaaatattat gcaaaaacag gggataccat tgaatttatg tgtaaattgg
      961 gatataatgc aaatacatca attctatcat ttcaagcagt gtgtcgggaa gggatagtgg
     1021 aataccccag atgcgaataa ggcagcattg ttaccctaaa tgtatgtcca acttccactt
     1081 ttccacttct cactcttatg gtctcaaagc ttgcaaagat agcttctgat attgttgtaa
     1141 tttctacttt atttcaaaga aaattaatat aatagtttca atttgcaact taatatattc
     1201 tcaaaaatat attaaaacaa actaaattat tgcttatgct tgtactaaaa taataaaaac
     1261 tactcttata ttggacttct tatcaatgaa ttagtaagta tagagacaga cagctgaatg
     1321 gctttctgca tattgtatag tatacctaga catagaaaca aaatgacttt agattttatt
     1381 tggggaagta ataataccat aaaattagat attaaaattg taagtgaaga taaacacact
     1441 atagtattcc cttattgtag ccatggtcct ctagatgcag ttaaccaaat agggtcattt
     1501 ttattaaaag tagtgtttcc tggcaaacac tgacattaca tcattatcat gatttaaagg
     1561 aaatagtact agagaaggtg aattattatc attttcctgt gaaaaaagaa aagaggtttt
     1621 gctaaccctt tcagagcatt gggaacacag ccagaagtgc attaaatgta tatattaact
     1681 tgggcaatgt tgacacttta ggatgctgaa gccaggtgca gtggcacacg cctgtaatcc
     1741 tagcactttg agaggccaag ctggcaatca tcagaggtca aaagttcaag accagcctgt
     1801 tcaacacggt gaaaccctgt ctctactaaa aatagaaaaa ctagctcggc atgatggcgt
     1861 gcacctgtag tcccagctac tcaggaggct gaggtgggag aatcacttta accagtgggg
     1921 cagaggttga actgagccaa gatagtgcca ctgcactcca gcctgggcaa tagagtgaga
     1981 ctctgtctta aaaataaata aataggatgc tgaaaattcc tatttaagga aataattctt
     2041 tttctgattt atttaaggct acatttgtat tttcttaata caaatatttt gaaagtttct
     2101 tcatatatgg ttttttgcat ttcttattaa gttttgcttc agattttttt ttgtcttttc
     2161 tcctgttaat tgccttcact ctctttctgt tctgtacttt tctttgtata taaggatttt
     2221 ttgaaaagat tgtatatccc tgttaacaaa ttgaaatctc tattcacttt aatagatttt
     2281 tacccccagt tagcatatgg ttagtgagaa gttgcagggt aagaagaaaa caatgttccc
     2341 tttcccaaca cttttcctga ttatagagaa aaaagcatga acttgtataa tgatctagtc
     2401 ctgtacagaa tgagaaatat taattgctag actgagaatg ttttggtggc taaagctagg
     2461 aataactttt taagactgaa gaatgatata agctatcaaa tctaactcag ttttcaaata
     2521 acaggtttgc agagactgga gaataaaaag taaaaaattg ttttattaat tccagtgact
     2581 aattctactt catcaacata catcataaat aaaatttcaa aaataattgc tgatatggtt
     2641 tggctgtgtc ccacccaatt ttcaccttga attatataat caccatgcat caaaggtagg
     2701 gccaggtgga gataatggaa tcatgggagc agtttcccca taccccactc atggtagtaa
     2761 atacatctca tgagatctaa tggttttata aatgaaagtt cccctggaca agttctcttg
     2821 cctgccacca tgtaagatgt acctttgcta ctcattcacc ttctgtcatg atggtgaggc
     2881 cttcccagca atgtggaact gtgagtccat taaacctctt tcctttataa atta
//
