LOCUS       NM_001201550            2063 bp    mRNA    linear   PRI 06-OCT-2024
DEFINITION  Homo sapiens complement factor H related 4 (CFHR4), transcript
            variant 1, mRNA.
ACCESSION   NM_001201550
VERSION     NM_001201550.3
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  (bases 1 to 2063)
  AUTHORS   Zouache,M.A., Richards,B.T., Pappas,C.M., Anstadt,R.A., Liu,J.,
            Corsetti,T., Matthews,S., Seager,N.A., Schmitz-Valckenberg,S.,
            Fleckenstein,M., Hubbard,W.C., Thomas,J., Hageman,J.L.,
            Williams,B.L. and Hageman,G.S.
  TITLE     Levels of complement factor H-related 4 protein do not influence
            susceptibility to age-related macular degeneration or its course of
            progression
  JOURNAL   Nat Commun 15 (1), 443 (2024)
   PUBMED   38200010
  REMARK    GeneRIF: Levels of complement factor H-related 4 protein do not
            influence susceptibility to age-related macular degeneration or its
            course of progression.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2063)
  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   3  (bases 1 to 2063)
  AUTHORS   Yu,H., Wang,C., Ke,S., Bai,M., Xu,Y., Lu,S., Feng,Z., Qian,B.,
            Xu,Y., Zhou,M., Li,Z., Yin,B., Li,X., Hua,Y., Zhou,Y., Pan,S.,
            Fu,Y. and Ma,Y.
  TITLE     Identification of CFHR4 as a Potential Prognosis Biomarker
            Associated With lmmune Infiltrates in Hepatocellular Carcinoma
  JOURNAL   Front Immunol 13, 892750 (2022)
   PUBMED   35812416
  REMARK    GeneRIF: Identification of CFHR4 as a Potential Prognosis Biomarker
            Associated With lmmune Infiltrates in Hepatocellular Carcinoma.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2063)
  AUTHORS   Cipriani,V., Lores-Motta,L., He,F., Fathalla,D., Tilakaratna,V.,
            McHarg,S., Bayatti,N., Acar,I.E., Hoyng,C.B., Fauser,S.,
            Moore,A.T., Yates,J.R.W., de Jong,E.K., Morgan,B.P., den
            Hollander,A.I., Bishop,P.N. and Clark,S.J.
  TITLE     Increased circulating levels of Factor H-Related Protein 4 are
            strongly associated with age-related macular degeneration
  JOURNAL   Nat Commun 11 (1), 778 (2020)
   PUBMED   32034129
  REMARK    GeneRIF: FHR-4 as a key molecular player contributing to complement
            dysregulation in the age-related macular degeneration.FHR-4 is
            expressed in the liver but not in the eye.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2063)
  AUTHORS   Lores-Motta,L., Paun,C.C., Corominas,J., Pauper,M., Geerlings,M.J.,
            Altay,L., Schick,T., Daha,M.R., Fauser,S., Hoyng,C.B., den
            Hollander,A.I. and de Jong,E.K.
  TITLE     Genome-Wide Association Study Reveals Variants in CFH and CFHR4
            Associated with Systemic Complement Activation: Implications in
            Age-Related Macular Degeneration
  JOURNAL   Ophthalmology 125 (7), 1064-1074 (2018)
   PUBMED   29398083
  REMARK    GeneRIF: The SNP rs3753396 in CFH and SNP rs6685931 in CFHR4 are
            associated with systemic complement activation levels. The SNP
            rs6685931 in CFHR4 and its linked haplotype H1-2 also conferred a
            risk for age-related macular degeneration (AMD) development, and
            therefore could be used to identify AMD patients who would benefit
            most from complement-inhibiting therapies.
REFERENCE   6  (bases 1 to 2063)
  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 2063)
  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 2063)
  AUTHORS   Hellwage,J., Skerka,C. and Zipfel,P.F.
  TITLE     Biochemical and functional characterization of the factor-H-related
            protein 4 (FHR-4)
  JOURNAL   Immunopharmacology 38 (1-2), 149-157 (1997)
   PUBMED   9476126
REFERENCE   9  (bases 1 to 2063)
  AUTHORS   Skerka,C., Hellwage,J., Weber,W., Tilkorn,A., Buck,F., Marti,T.,
            Kampen,E., Beisiegel,U. and Zipfel,P.F.
  TITLE     The human factor H-related protein 4 (FHR-4). A novel short
            consensus repeat-containing protein is associated with human
            triglyceride-rich lipoproteins
  JOURNAL   J Biol Chem 272 (9), 5627-5634 (1997)
   PUBMED   9038172
REFERENCE   10 (bases 1 to 2063)
  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 AK292752.1, X98337.1,
            AJ640130.2 and BX248415.2.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 30, 2018 this sequence version replaced NM_001201550.2.
            
            Summary: This gene is a member of the complement factor H (CFH)
            gene family, and encodes one of the 5 CFH-related (CFHR) proteins.
            These 5 genes are closely linked to the CFH gene on chromosome
            1q31-q32. The CFHRs are secreted plasma proteins synthesized
            primarily by the hepatocytes, and composed of highly-related short
            consensus repeats (SCRs). This protein enhances the cofactor
            activity of CFH, and is involved in complement regulation. It can
            associate with lipoproteins and may play a role in lipid
            metabolism. Alternatively spliced transcript variants encoding
            different isoforms (varying in the number of SCRs) have been
            described for this gene. [provided by RefSeq, Jan 2011].
            
            Transcript Variant: This variant (1) encodes the longest isoform
            (1, also known as FHR-4A).
            
            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 :: AJ640130.2, DRR138515.717473.1
                                           [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000608469.6/ ENSP00000477162.2
            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
            1-30                AK292752.1         39-68
            31-309              X98337.1           17-295
            310-473             AJ640130.2         277-440
            474-474             BX248415.2         63573-63573
            475-2063            AJ640130.2         442-2030
FEATURES             Location/Qualifiers
     source          1..2063
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q31.3"
     gene            1..2063
                     /gene="CFHR4"
                     /gene_synonym="CFHL4; FHR-4; FHR4"
                     /note="complement factor H related 4"
                     /db_xref="GeneID:10877"
                     /db_xref="HGNC:HGNC:16979"
                     /db_xref="MIM:605337"
     exon            1..157
                     /gene="CFHR4"
                     /gene_synonym="CFHL4; FHR-4; FHR4"
                     /inference="alignment:Splign:2.1.0"
     CDS             100..1836
                     /gene="CFHR4"
                     /gene_synonym="CFHL4; FHR-4; FHR4"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1; complement factor H-related protein 4"
                     /codon_start=1
                     /product="complement factor H-related protein 4 isoform 1
                     precursor"
                     /protein_id="NP_001188479.1"
                     /db_xref="CCDS:CCDS91133.1"
                     /db_xref="GeneID:10877"
                     /db_xref="HGNC:HGNC:16979"
                     /db_xref="MIM:605337"
                     /translation="MLLLINVILTLWVSCANGQEVKPCDFPEIQHGGLYYKSLRRLYF
                     PAAAGQSYSYYCDQNFVTPSGSYWDYIHCTQDGWSPTVPCLRTCSKSDVEIENGFISE
                     SSSIYILNEETQYNCKPGYATAEGNSSGSITCLQNGWSTQPICIKFCDMPVFENSRAK
                     SNGMWFKLHDTLDYECYDGYESSYGNTTDSIVCGEDGWSHLPTCYNSSENCGPPPPIS
                     NGDTTSFPQKVYLPWSRVEYQCQSYYELQGSKYVTCSNGDWSEPPRCISMKPCEFPEI
                     QHGHLYYENTRRPYFPVATGQSYSYYCDQNFVTPSGSYWDYIHCTQDGWLPTVPCLRT
                     CSKSDIEIENGFISESSSIYILNKEIQYKCKPGYATADGNSSGSITCLQNGWSAQPIC
                     IKFCDMPVFENSRAKSNGMRFKLHDTLDYECYDGYEISYGNTTGSIVCGEDGWSHFPT
                     CYNSSEKCGPPPPISNGDTTSFLLKVYVPQSRVEYQCQSYYELQGSNYVTCSNGEWSE
                     PPRCIHPCIITEENMNKNNIQLKGKSDIKYYAKTGDTIEFMCKLGYNANTSVLSFQAV
                     CREGIVEYPRCE"
     exon            158..355
                     /gene="CFHR4"
                     /gene_synonym="CFHL4; FHR-4; FHR4"
                     /inference="alignment:Splign:2.1.0"
     exon            356..538
                     /gene="CFHR4"
                     /gene_synonym="CFHL4; FHR-4; FHR4"
                     /inference="alignment:Splign:2.1.0"
     exon            539..715
                     /gene="CFHR4"
                     /gene_synonym="CFHL4; FHR-4; FHR4"
                     /inference="alignment:Splign:2.1.0"
     exon            716..898
                     /gene="CFHR4"
                     /gene_synonym="CFHL4; FHR-4; FHR4"
                     /inference="alignment:Splign:2.1.0"
     exon            899..1096
                     /gene="CFHR4"
                     /gene_synonym="CFHL4; FHR-4; FHR4"
                     /inference="alignment:Splign:2.1.0"
     exon            1097..1279
                     /gene="CFHR4"
                     /gene_synonym="CFHL4; FHR-4; FHR4"
                     /inference="alignment:Splign:2.1.0"
     exon            1280..1456
                     /gene="CFHR4"
                     /gene_synonym="CFHL4; FHR-4; FHR4"
                     /inference="alignment:Splign:2.1.0"
     exon            1457..1639
                     /gene="CFHR4"
                     /gene_synonym="CFHL4; FHR-4; FHR4"
                     /inference="alignment:Splign:2.1.0"
     exon            1640..2063
                     /gene="CFHR4"
                     /gene_synonym="CFHL4; FHR-4; FHR4"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2040..2045
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CFHR4"
                     /gene_synonym="CFHL4; FHR-4; FHR4"
                     /note="hexamer: AATAAA"
     polyA_site      2063
                     /gene="CFHR4"
                     /gene_synonym="CFHL4; FHR-4; FHR4"
                     /note="major polyA site"
ORIGIN      
        1 aaattcagaa tcacacttgg taactaataa tgaaagattt caaaccccaa acagtgcaac
       61 tgaaactttt gcattactat actactgaga atatctaaca tgttgttact aatcaatgtc
      121 attctgacct tgtgggtttc ctgtgctaat ggacaagaag tgaaaccttg tgattttcca
      181 gaaattcaac atggaggtct atattataag agtttgcgta gactatactt tccagcagct
      241 gcaggacaat cttattccta ttactgtgat caaaattttg tgactccttc aggaagttac
      301 tgggattaca ttcattgcac acaagatggt tggtcaccaa cggtcccatg cctcagaaca
      361 tgctcaaaat cagatgtaga aattgaaaat ggattcattt ctgaatcttc ctctatttat
      421 attttaaatg aagaaacaca atataattgt aaaccaggat atgcaacagc agagggaaat
      481 tcttcaggat caattacatg tttgcaaaat ggatggtcaa cacaaccaat ttgcattaaa
      541 ttttgtgata tgcctgtttt tgagaattcc agagccaaga gtaatggcat gtggtttaag
      601 ctccatgaca cattggacta tgaatgctat gatggatatg aaagcagtta tggaaacacc
      661 acagattcca tagtgtgtgg tgaagatggc tggtcccatt tgccaacatg ctataattct
      721 tcagaaaact gtgggcctcc tccacctatt agcaatggag ataccacgtc cttcccgcaa
      781 aaagtgtatc tgccatggtc aagagtcgag taccagtgcc agtcctacta tgaacttcag
      841 ggttctaaat atgtaacatg tagtaatgga gactggtcag aaccaccaag atgcatatca
      901 atgaaacctt gtgagtttcc agaaattcaa catggacatc tatattatga gaatacgcgt
      961 agaccatact ttccagtagc tacaggacaa tcttactcct attactgtga ccaaaatttt
     1021 gtgactcctt caggaagtta ctgggattac attcactgca cacaagatgg gtggttgcca
     1081 acagtcccat gcctcagaac atgctcaaaa tcagatatag aaattgaaaa tggattcatt
     1141 tctgaatctt cctctattta tattttaaat aaagaaatac aatataaatg taaaccagga
     1201 tatgcaacag cagatggaaa ttcttcaggt tcaattacat gtttgcaaaa tggatggtca
     1261 gcacaaccaa tttgcattaa attttgtgat atgcctgttt ttgagaattc cagagccaag
     1321 agtaatggca tgcggtttaa gctccatgac acattggact acgaatgcta cgatggatat
     1381 gaaatcagtt atggaaacac cacaggttcc atagtgtgtg gtgaagatgg gtggtcccat
     1441 ttcccaacat gttataattc ttcagaaaag tgtgggcctc ctccacctat tagcaatggt
     1501 gataccacct cctttctact aaaagtgtat gtgccacagt caagagtcga gtaccaatgc
     1561 cagtcctact atgaacttca gggttctaat tatgtaacat gtagtaatgg agagtggtcg
     1621 gaaccaccaa gatgcataca tccatgtata ataactgaag aaaacatgaa taaaaataac
     1681 atacagttaa aaggaaaaag tgacataaaa tattatgcaa aaacagggga taccattgaa
     1741 tttatgtgta aattgggata taatgcgaat acatcagttc tatcatttca agcagtgtgt
     1801 agggaaggca tagtggaata ccccagatgc gaataaggca gcattgttac cctaaatgta
     1861 tgtccaactt ccacttctca ctcttatggt ctcaaagctt gcaaagatag cttctgatat
     1921 tgttgtaatt tctactttat ttcaaagaaa attaatataa tagtttcaat ttgcaactta
     1981 atatgttctc aaaaatatgt taaaacaaac taaattattg cttatgcttg tactaaaata
     2041 ataaaaacta cccttatatt gga
//
